Clinical AreaHuman genetics
Associated diseases
- Opitz G/BBB syndroms, differential diagnosis
- "Actionable genes 3.1"
- "Prenatal test panel, Sweden"
- (Warburg-)Micro syndrome, differential diagnosis
- 3-Methylglutaconaziduria type 7, differential diagnosis; Caseinolytic peptidase B deficiency
- 46XX - disorders of sex development, differential diagnosis
- 46XX - gonadal dysgenesis, differential diagnosis
- 46XX - indifferentes Genitale, Differentialdiagnose
- 46XX - testicular disorders of testes development, non-syndromic; differential diagnosis
- 46XX infertility / sterility, differential diagnosis
- 46XY - disorders of sexual development, differential diagnosis
- 46XY - disorders of testes development, non-syndromic; differential diagnosis
- 46XY infertility / sterility
- 5-FU toxicity
- Aarskog [Scott] syndrome, differential diagnosis
- Aarskog syndrome
- Abetalipoproteinaemia
- Absence epilepsy, atypical; differential diagnosis
- Absence epilepsy, children + youths; differential diagnosis
- Aceruloplasminemia, differential diagnosis
- Achondrogenesis type II
- Achondroplasia
- Achromatopsia, differential diagnosis
- Acid sphingomyelinase deficiency - Niemann-Pick disease type A; differential diagnosis
- Acrocallosal syndrome, differential diagnosis
- Acrogigantism, differential diagnosis
- ACTH deficiency
- Action myoclonus-renal failure syndrome, differential diagnosis
- Adams-Oliver syndrome, differential diagnosis
- Adenosine deaminase 2 deficiency, differential diagnosis
- Adipositas, pure; differential diagnosis
- Adrenal insufficiency, differential diagnosis
- Adrenogenital syndrome, differential diagnosis
- Adrenoleukodystrophy, X linked
- Ahornsirup-Krankheit, Differentialdiagnose
- Aicardi syndrome, differential diagnosis
- Aicardi-Goutières syndrome, differential diagnosis
- Akne inversa, familial; differential diagnosis
- Alagille syndrome, differential diagnosis
- Albinism, ocular/oculocutaneous; differential diagnosis
- Alcohol intolerance
- Alkaptonuria, differential diagnosis
- Allan-Herndon-Dudley syndrome, differential diagnosis
- Alopecia universalis
- Alopecia, cicatricial
- Alopecia, syndromal; differential diagnosis
- Alport syndrome, differential diagnosis
- Alstrom syndrome
- Alveolar proteinoses, differential diagnosis
- Amelogenesis imperfecta, differential diagnosis
- Amyloidosis, differential diagnosis
- Amyotrophe Lateralsklerose [seltener mutierte Gene], Differentialdiagnose
- Amyotrophic lateral sclerosis, autosomal recessive; differential diagnosis
- Amyotrophic lateral sclerosis, differential diagnosis
- Anal atresia/anorectal malformations, differential diagnosis
- Androgen insensitivity syndrome
- Anencephaly + neural tube-defects; differential diagnosis
- Angelman syndrome, differential diagnosis
- Angioedema, hereditary
- Angioedema, hereditary, differential diagnosis
- Aniridia, differential diagnosis
- Anonychia, differential diagnosis
- Anophthalmia, microphthalmia: differential diagnosis
- Anorectal malformations, differential diagnosis
- Aortectasia, thoracic (EBM 11448)
- Aortectasia, thoracic; differential diagnosis
- Apert syndrome
- Aphakia, congenital primary
- Apolipoprotein C-III deficiency
- Arachnodactyly, congenital contractural; differential diagnosis
- Aromatase deficiency
- Aromatase excess syndrome
- ARSACS, differential diagnosis
- Arterial calcification, generalised, infantile
- Arterial-Tortuosity syndrome, differential diagnosis
- Arteriosclerosis, monogenic; differential diagnosis
- Arthrogrypose, Differentialdiagnose
- Arthrogrypose, distal; Differentialdiagnose
- Arthrogryposis, neuromuscular
- Arthrogryposis, renal dysfunction + cholestasis
- Arthrogryposis, syndromal; differential diagnosis
- Arts syndrome
- Ataxia telangiectasia
- Ataxia, autosomal recessive; differential diagnosis
- Ataxia, episodic; differential diagnosis
- Ataxie, autosomal dominant [Erwachsenenalter]; Differentialdiagnose
- Ataxie, autosomal rezessiv [Erwachsenenalter]; Differentialdiagnose
- Ataxie, zerebelläre [Erwachsenenalter]; Differentialdiagnose
- Atelosteogenesis I-III, differential diagnosis
- ATP8B1 deficiency, differential diagnosis
- Atrio-ventrikulärer Block, Differentialdiagnose
- Au-Kline syndrome; differential diagnosis
- Autism I
- Autism II
- Autism, susceptibility
- Autismus III
- Autoimmun-hämolytische Anämie; Differentialdiagnose
- Autoimmun-LymphoProliferatives Syndrom, ALPS; Differentialdiagnose
- Autoimmune polyglandular insufficiency
- Axenfeld-Rieger-Syndrom, Differentialdiagnose
- Aymé-Gripp syndrome, differential diagnosis
- Azoospermia factor (AZF)
- Azoospermia syndrome [expanded]
- Azoospermia syndrome, differential diagnosis
- Baller-Gerold syndrome, differential diagnosis
- Baraitser-Winter-Syndrom, Differentialdiagnose
- Bardet-Biedl syndrome, differential diagnosis I
- Bardet-Biedl syndrome, differential diagnosis II [expanded supplementary panel]
- Barth syndrome, differential diagnosis
- Bartter syndrome type 1-4, differential diagnosis
- Beckwith-Wiedemann syndrome, congenital overgrowth; differential diagnosis
- Beckwith-Wiedemann syndrome, differential diagnosis
- Berardinelli-Seip congenital lipodystrophy, differential diagnosis
- Bernard-Soulier syndrome, differential diagnosis
- Bestrophinopathy, differential diagnosis
- Beta globinopathies
- Bicuspid aortic valve, differential diagnosis
- Bietti crystalline corneoretinal dystrophy
- Biotin-responsive basal ganglia disease
- Biotinidase deficiency, differential diagnosis
- Birt-Hogg-Dubé syndrome, differential diagnosis
- Blasenkarzinom, Suszeptibilität
- Blepharophimosis-Ptosis-Epicanthus inversus syndrome, differential diagnosis
- Bloom syndrome, differential diagnosis
- Bohring-Opitz syndrome, differential diagnosis
- Bone marrow dysfunction, hereditary; differential diagnosis
- Brachydaktylie, Differentialdiagnose
- Bradyarrythmie, kardiale; Differentialdiagnose
- Bradyopsia
- Brain tumors, susceptibility
- Brain vessel malformations, differential diagnosis
- Branchio-oculo-facial syndrome, differential diagnosis
- Branchio-oto-renal syndrome
- Breast cancer / therapy with PARP inhibitors
- Bronchiektasen, Differentialdiagnose
- Brooke-Spiegler-Syndrom ["CYLD cutaneous syndrome"], Differentialdiagnose
- Bruck-Syndrom 1 + 2
- Brugada syndrome, narrow definition
- Brugada-Syndrom [erweitertes panel], Differentialdiagnose
- Burn-McKeown syndrome, differential diagnosis
- C1Q deficiency
- C9orf72-FTD + C9orf72-ALS; erweiterte Differentialdiagnose
- CACNA1C gene-related disorders, differential diagnosis
- CADASIL
- CADASIL, differential diagnosis
- Calcification, intracerebral; differential diagnosis
- Campomelic dysplasia, differential diagnosis
- Camurati-Engelmann disease, differential diagnosis
- Cancer precaution panel, genetic [private medical service]
- Cancer predisposition for solid tumors, adults
- Cancer susceptibility upper gastrointestinal tract
- Capillary malformation-arteriovenous malformation, differential diagnosis
- CARASIL
- Cardio-facio-cutaneous syndrome, differential diagnosis
- Carnitine Palmitoyltransferase II Deficiency, differential diagnosis
- Carnitine-Palmitoyl-Transferase IA Deficiency, differential diagnosis
- CASK gene-related disorders, differential diagnosis
- Cataract with other eye anomalies, differential diagnosis
- Cataract, differential diagnosis
- Cataract, isolated
- Cataract, syndromal; differential diagnosis
- Catecholaminergic polymorphic ventricular tachycardia
- CEBALID syndrome, MCTT syndrome
- Cerebrotendinous xanthomatosis, CTX
- Cerebrotendinous Xanthomatosis, CTX; differential diagnosis
- Ceroid-Lipofuszinosen, neuronale; Differentialdiagnose
- Char syndrome, differential diagnosis
- CHARGE syndrome, differential diagnosis
- Chediak-Higashi syndrome
- Cherubism, differential diagnosis
- CHILD-/CK-Syndrom, Differentialdiagnose
- Choanalatresie, Differentialdiagnose
- Cholestase, intrahepatische, Schwangerschaft; Differentialdiagnose
- Cholestase, progressive familiäre intrahepatische, Differentialdiagnose
- Cholestasis, congenital + adult; differential diagnosis
- Chondrodysplasia punctata, differential diagnosis
- Choroideremia
- Christianson syndrome, differential diagnosis
- Chromosomen-Aberration, postnatal
- Chromosomen-Aberration, pränatal
- Citrin deficiency, neonatal intrahepatic cholestasis; differential diagnosis
- Clefting, non-syndromal; differential diagnosis
- Cleidocranial dysostosis
- Cockayne syndrome
- Cockayne syndrome/Trichothiodystrophy/Xeroderma pig., differential diagnosis
- Coenzyme Q10 deficiency, differential diagnosis
- Coffin-Lowry syndrome, differential diagnosis
- Coffin-Siris syndrome, differential diagnosis
- Cohen syndrome
- Colon cancer, hereditary non-polyposis; differential diagnosis
- Colon carcinoma, POLD1-related
- Colorectal cancers, hereditary; differential diagnosis
- Conduction disorders, cardiac; differential diagnosis
- Congenital cataracts, facial dysmorphism + neuropathy
- Congenital disorders of glycosylation, CDG; differential diagnosis
- Contracture syndrome, lethal congenital; differential diagnosis
- Corneal disorders, except for dystrophies; differentialdiagnosis
- Corneal dystrophy, differential diagnosis
- Cornelia-de Lange syndrome, differential diagnosis
- Cortex malformations, differential diagnosis
- Cortical dysplasia, complex, with other brain malformations; differential diagnosis
- Costeff syndrome, differential diagnosis
- Costello syndrome, differential diagnosis
- Cowden syndrome, differential diagnosis
- Craniofacial microsomia, differential diagnosis
- Craniosynostosis [frequently mutated genes]
- Craniosynostosis, differential diagnostics
- Creatin deficiency syndromes, differential diagnosis
- Crigler-Najjar-Syndrom I
- Crigler-Najjar-Syndrom II
- Crouzon syndrome
- Currarino triad
- Cutis laxa, differential diagnosis
- CYP2D6 bei geplanter M. Gaucher-Therapie
- Cystic fibrosis - full sequence
- Cystinosis
- Cystinuria type 1-3
- Cystische Fibrose, Differentialdiagnose
- Cystische Fibrose, häufigste Mutationen
- Danon disease, differential diagnosis
- Déjerine-Sottas syndrome
- Dementias, differential diagnosis
- Demenz, früh einsetzend; Differentialdiagnose
- Dent syndrome, differential diagnosis
- Dentato-rubro-pallido-luysian atrophy
- Denys-Drash syndrome
- Deoxyguanosine Kinase Deficiency, mtDNA depletions syndrome, hepatocerebral; differential diagnosis
- Desminopathy
- Diabetes bei Autoimmunität in mehreren Organen, Differentialdiagnose
- Diabetes insipidus, centralis/nephrogen, familiär; Differentialdiagnose
- Diabetes mellitus, genetic
- Diabetes mellitus, MODY
- Diabetes mellitus, monogen mit Zusatzsymptomen; Differentialdiagnose
- Diabetes mellitus, neonatal with congenital hypothyreosis
- Diabetes mellitus, neonatal; Differentialdiagnose
- Diabetes mellitus, transient neonatal; differential diagnosis
- Diabetes mellitus, type 2, susceptibility
- Diamond-Blackfan anemia, aplastic; differential diagnosis
- Diaphragmatic hernias, congenital, differential diagnosis
- Dopamine beta-hydroxylase deficiency, differential doagnosis
- Ductal plate malformations, differential diagnosis
- Dwarfism, diastrophic
- Dwarfism, idiopathic; differential diagnosis
- Dysautonomia, familial; differential diagnosis
- Dysferlinopathy, Differential diagnosis
- Dyskeratosis congenita, differential diagnosis
- Dyskeratosis congenita, X-chromosomal
- Dystonia-Parkinson syndrome, diufferential diagnosis
- Dystonie, Dopa-responsiv; Differentialdiagnose
- Dystonie, Kindesalter; Differentialdiagnose
- Dystrophy, myotonic 1
- Early repolarisation syndrome(s); differential diagnosis
- EAST syndrome
- Ectodermal dysplasia, hypohydrotic; differential diagnosis
- Ectopia-Lentis syndrome, differential diagnosis
- Ectopia-lentis-[et-pupillae-]Syndrom, incl. minimaler Linsen-/Pupillenveränderungen
- Ehlers-Danlos-Syndrom; Differentialdiagnose
- Ektodermale Dysplasie, ohne An-/Hypohydrosis; Differentialdiagnose
- Ellis-van-Creveld-Syndrom, Differentialdiagnose
- Emanuel syndrome, differential diagnosis [post-cytogenetic]
- Emery-Dreifuss muscular dystrophy, differential diagnosis
- Endometrium-Karzinom [erblich, Suszeptibilität]
- Enlarged Parietal Foramina, differential diagnosis
- Enzephalopathie, mitochondriale; Differentialdiagnose
- Epidermodysplasia verruciformis, differential diagnosis
- Epidermolysis bullosa dystrophica, Differentialdiagnose
- Epidermolysis bullosa junctionalis, Differentialdiagnose
- Epidermolysis bullosa simplex with pyloric atresia
- Epidermolysis bullosa simplex, Differentialdiagnose
- Epidermolysis bullosa, Differentialdiagnose
- Epilepsie, erbliche Syndrome, Differentialdiagnose
- Epilepsie, generalisierte idiopathische (Erwachsene)
- Epilepsie, progressive myoklonische; Differentialdiagnose
- Epilepsies, metabolic; differentialdiagnosis
- Epilepsy, early infantile; differential diagnosis
- Epilepsy, familial focal; differential diagnosis
- Epilepsy, generalized with fever attacks
- Epileptic encephalopathy, early infantile -"Dravet syndrome"; differential diagnosis
- Epileptische Enzephalopathie, frühinfantil; Differentialdiagnose
- Erythromelalgia, primary
- Erythrozytenmembran-Defekte, Differentialdiagnose
- Erythrozytose, familiäre hereditäre; Differentialdiagnose
- Esophagus atresia/tracheo-esophageal fistulas, differential diagnosis
- Exostosen, multiple; Differentialdiagnose
- Factor V + VIII deficiency, combined
- Failure to implant, recurrent; differential diagnosis
- Faktor II-Defizienz, Prothrombin-Mutation; Thrombophilie
- Fallot-Tetralogie, Differentialdiagnose
- Familial mediterranean fever
- FAMMM-Syndrom, Differentialdiagnose
- Fanconi anemia, differential diagnosis
- Fanconi-Bickel syndrome
- Farber lipogranulomatosis
- Fatty acid hydroxylase-associated neurodegeneration, differential diagnosis
- Feingold syndrome
- Fettsäure-Oxidationsstörungen, Differentialdiagnose
- FGFR-craniosynostosis syndromes, differential diagnosis
- Fibrodysplasia ossificans progressiva, differential diagnosis
- Fibrose der äußeren Augenmuskeln, kongenitale; Differentialdiagnose
- Fieber-Syndrome, hereditäre periodische; Differentialdiagnose
- Floating-Harbor syndrome, differential dignosis
- Floppy infant
- Folate malabsorption, hereditary; differential diagnosis
- Folsäure-Defizienz, zerebrale; Differentialdiagnose
- Fragile X-associated tremor / ataxia syndrome [FXTAS]
- Fragile-X syndrome
- Fraser syndrome, differential diagnosis
- Frasier syndrome
- Frontonasal dysplasia + Opitz GBBB syndrome, differential diagnosis
- Frontotemporal dementia (C9orf72) - Amyotrophic Lateralsklerosis; differential diagnosis
- Fructose intolerance, hereditary
- Fructose-1,6-biphosphatase deficiency, differential diagnosis
- FSHR-Gen-Polymorphismus, Stimulation für IVF/ICSI
- Fucosidosis
- Fukuyama Congenital Muscular Dystrophy, differential diagnosis
- Gabriele-de Vries syndrome, differential diagnosis
- Galactosialidosis
- Galaktosemia, differential diagnosis
- GAND syndrome
- Gastroenterologic epithelial barrier disorders
- Gastroenterologic neuromuscular disorders, differential diagnosis
- Gefleckte-Retina-Syndrom, Differentialdiagnose
- Genitopatellar syndrome/SBBYS syndrome, differential diagnosis
- Genodermatoses with malignant degeneration, differential diagnosis
- Gerinnungsstörungen, Differentialdiagnose
- Gerinnungsstörungen, Koagulopathien; Differentialdiagnose
- Gestörter Cobalamin-Metabolismus, Differentialdiagnose
- Gilbert-Syndrom
- Gitelman plus Bartter syndromes, differential diagnosis
- Gitelman syndrome
- Glaucoma, infantile; differential diagnosis
- Glaukom, adultes Weitwinkel-; Suszeptibilität
- Glaukom, primäres Weitwinkel-; POAG-SNP-Loci
- Gliedergürtel-Muskeldystrophie, autosomal dominant; Differentialdiagnose
- Gliedergürtel-Muskeldystrophie, autosomal rezessiv; Differentialdiagnose
- Gliedergürtel-Muskeldystrophie, X-chromosomal; Differentialdiagnose
- Glioma, associated with hereditary tumor syndromes
- Glioma, glioblastoma
- Glioma, susceptibility
- Globozoospermie, Differentialdiagnose
- Glomerulonephritis, fokal segmental; Differentialdiagnose
- Glomerulonephritis, membranoproliferative; differential diagnosis
- Glomerulopathies, C3-; differential diagnosis
- Glomerulosklerose, fokal-segmentale; Differentialdiagnose
- Glucocorticoid deficiency, familial; differential diagnosis
- Glucose transporter type 1 deficiency syndrome, classic; differential diagnosis
- Glucosuria, renal
- Glukoneogenese-Defizienz, Differentialdiagnose
- Glutaraciduria type I; differential diagnosis
- Glycogen storage disorders
- Glycosylphosphatidylinositol biosynthesis defects, differential diagnosis
- GM1-Gangliosidosis typ I-II, differential diagnosis
- GM1-Gangliosidosis type I-III
- GM1-Gangliosidosis type III, differential diagnosis
- GM2-Gangliosidose, Differentialdiagnose
- GM2-Gangliosidosis, AB variant
- Goldenhar-Syndrom, Differentialdiagnose
- Goltz[-Gorlin]-Syndrom, differential diagnosis
- Gorlin syndrome, differential diagnosis
- Greig cephalopolysyndactyly, differential diagnosis
- Growth hormone deficiency
- Gynaecological tumors based on familial predisposition for inherited cancers
- Haematological malignancies, germline mutations; differential diagnosis
- Haemochromatosis, differential diagnosis
- Hamartomas [extra-gastrointestinal], Differentialdiagnose
- Hämaturie, familiäre, Differentialdiagnose
- Hämolytische Anämie, nicht-sphärozytisch
- Hand-foot-uterus syndrome; differential diagnosis
- Hartsfield-Syndrom, Differentialdiagnose
- HBOC / Brustkrebs + Eierstockkrebs, erblich; Differentialdiagnose
- HBOC / Brustkrebs + Eierstockkrebs, erblich; Konsortium
- Head and neck cancer, susceptibility
- Hearing loss, autosomal dominant; differential diagnosis
- Hearing loss, autosomal recessive; differential diagnosis
- Hearing loss, sensorineural, type 1
- Hearing loss, X-linked; differential diagnosis
- Helsmoortel-Van der Aa-Syndrom, Differentialdiagnose
- Hemostasis disorders, inherited; differential diagnosis
- Hepatic lipase deficiency
- Hepatitis-C virus infection, susceptibility + prognosis markers
- Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome, differential diagnosis
- Hermansky-Pudlak-Syndrom, Differentialdiagnose
- Heterotaxy - Situs inversus, differential diagnosis
- Hodenhochstand, Differentialdiagnose
- Holoprosencephalc, microform; differential diagnosis
- Holoprosencephaly, differential diagnosis
- Holt-Oram syndrome, differential diagnosis
- Homocystinuria, classic; differential diagnosis
- Hornhaut-Dystrophie, stromale, kongenitale; Differentialdiagnose
- Hörverlust bei (Ohr-)Fehlbildungen, Differentialdiagnose
- Hörverlust bei (Ohr-)Fehlbildungen, Differentialdiagnose
- Hörverlust, großes panel incl. Syndrome; Differentialdiagnose
- HT amedes infant gene care
- HT amedes Mutationsträger-Test für Ashkenasi-Juden
- HT amedes Mutationsträger-Test für Sephardische Juden
- HT amedes STANDARD heterozygosity test
- HT amedes STANDARD heterozygosity test without sensorics genes
- Huppke-Brendel syndrome; differential diagnosis
- Hutchinson-Gilford progeria syndrome; differential diagnosis
- Hyaline Fibromatose-Syndrom, Differentialdiagnose
- Hydroa vacciniforme
- Hydrocephalus, X linked; differential diagnosis
- Hydrolethalus syndrome, differential diagnosis
- Hyper-IgD syndrome
- Hyper-IgE syndrome, differential diagnosis
- Hyperaldosteronism, familial; differential diagnosis
- Hypercholesterinämie, familiäre - PCSK9-Gen
- Hypercholesterolaemia, familial; differential diagnosis
- Hyperekplexia, differential diagnosis
- Hyperglycinemia, non-ketotic; differential diagnosis
- Hyperinsulinism, congenital; differential diagnosis
- Hyperkalzämie, infantile; Differentialdiagnose
- Hyperlipidaemias/Dyslipidaemias, familial; differential diagnosis
- Hyperlipoproteinaemia, type III
- Hyperornithinämie-Hyperammonämie-Homocitrullinurie-Syndrom, Differentialdiagnose
- Hyperoxalurie, primäre; Differentialdiagnose
- Hyperparathyreoidism jaw tumor syndrome
- Hypertension, pulmonary; differential diagnosis
- Hyperthyroidism; differential diagnosis
- Hypertonie, juvenile extreme; Differentialdiagnose
- Hypertrichosis, konnatal; Differentialdiagnose
- Hypertriglyceridaemia
- Hypertriglycerolaemia, differential diagnosis
- Hypertrophic osteoarthropathy, primary
- Hypoaldosteronism, familial
- Hypobeta-lipoproteinaemia
- Hypobeta-lipoproteinemia, differential diagnosis
- Hypocalciuric hypercalcaemia, differential diagnosis
- Hypochondroplasia
- Hypocitraturia, differential diagnosis
- Hypoglycemia, ketotic; differential diagnosis
- Hypoglykämie, familiärer Hyperinsulinismus; Differentialdiagnose
- Hypogonadism, hypogonadotropic; differential diagnosis
- Hypogonadismus, männlicher hypergonadotroper; Differentialdiagnose
- Hypogonadismus, weiblicher hypergonadotroper; Differentialdiagnose A
- Hypogonadismus, weiblicher hypergonadotroper; Differentialdiagnose erweitert
- Hypogonadotropic hypogonadism, Kallmann syndrome; differential diagnosis
- Hypomagnesiämie [mit "Gitelman-like"], Differentialdiagnose
- Hypomagnesiämie, genetisch bedingt; Differentialdiagnose
- Hypomagnesiämie, hyperkalziurisch; Differentialdiagnose
- Hypoparathyreoidismus, familiär; Differentialdiagnose
- Hypophosphataemia / rickets, differential diagnosis
- Hypophosphatasia, adult, infantile, perinatal lethal; differential diagnosis
- Hypophosphatasie, adult, kindlich, perinatal letal
- Hypophysenhormon-Defizienz, kombinierte; Differentialdiagnose
- Hypoplastisches Linksherz-Syndrom, Differentialdiagnose
- Hypospadia, differential diagnosis
- Hypothyroidism, congenital; differential diagnosis
- Hypotonie-Cystinurie-Syndrom
- Hypourikaemia, renal; differential diagnosis
- Hypoventilationssyndrom, zentrales; Differentialdiagnose
- Ichthyosis + related dyskeratinoses, differential diagnosis
- Ichthyosis, congenital, recessive; differential diagnosis
- IMAGe-Syndrom, Differentialdiagnose
- Imerslund-Gräsbeck syndrome
- Immunodeficiency, primary; differential diagnosis
- Imprinting disturbances, multilocus
- Imprinting-Störungen/Epigenetische Signaturen
- Infantile-Onset Spinocerebellar Ataxia; differential diagnosis
- Inflammatory bowel diseases + infantile enterocolitis (monogenic)
- Insulin-like growth factor 1 deficiency
- Intellectual deficit + (ponto-)cerebellar hypoplasia, differential diagnosis
- Intellectual deficit + epilepsy / encephalopathy
- Intellectual deficit + macrocephaly, differential diagnosis
- Intellectual deficit + metabolism disorders
- Intellectual deficit + microcephaly, differential diagnosis
- Intellectual deficit + small stature, differential diagnosis
- Intellectual deficit, autosomal dominant
- Intellectual deficit, autosomal recessive, no other symptoms
- Intellectual deficit, cerebro-organic
- Intestinal failure / Diarrhea, differential diagnosis
- IPEX syndrome, differential diagnosis
- Iron-refractory iron deficiency anemia, IRIDA; differential diagnosis
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; differential doagnosis
- Isolated Sulfite Oxidase Deficiency; differential diagnosis
- Jackson-Weiss syndrome
- Jervell- + Lange-Nielsen syndrome, differential diagnosis
- Jeune syndrome, differential diagnosis
- Joubert syndrome [rarely mutated genes]
- Joubert syndrome, differential diagnosis
- Juvenile hemochromatosis [type 2], differential diagnosis
- Kabuki syndrome, differential diagnosis
- Kalzinose, tumoröse; Differentialdiagnose
- Kammerflimmern I, Differentialdiagnose
- Kammerflimmern II, Differentialdiagnose erweitert
- Kanal-Erkrankungen, Gehirn; Differentialdiagnose
- Kardiomyopathie, arrhythmogene rechtsventrikuläre; Differentialdiagnose
- Kardiomyopathie, dilatative; Differentialdiagnose
- Kardiomyopathie, hypertrophe; Differentialdiagnose
- Kardiomyopathie, pädiatrisch mit zusätzl. Phänotyp; Differentialdiagnose
- Kardiomyopathie, pädiatrisch; Differentialdiagnose
- Kartagener syndrome/primary ciliary dyskinesia, differential diagnosis
- KBG syndrome
- KBG syndrome, differential diagnosis I
- KBG syndrome, differential diagnosis II
- Kearns-Sayre syndrome, differential diagnosis
- Kennedy syndrome
- Kenny-Caffey-Syndrom
- Keratose, Keratoderma, Erythrokeratoderma; Differentialdiagnose
- Ketogenesis disorders, differential diagnosis
- Ketolyse-Störungen, Differentialdiagnose
- Kidney cysts, medullary, type 1+2
- Kindler syndrome; differential diagnosis
- Kleefstra-Syndrom, Differentialdiagnose
- Kleine-Levin-Syndrom, Differentialdiagnose
- Kleinhirn-Hypoplasie, Differentialdiagnose
- Kleinwuchs im Kindesalter, Differentialdiagnose
- Kleinwuchs, frühe Kindheit; Differentialdiagnose
- Kleinwuchs, idiopatisch [familiär]; SHOX-Gen
- Kleinwuchs, idiopatisch; SHOX-Gen
- Klippel-Feil syndrome
- Klumpfuß, Differentialdiagnose
- Knorpel-Haar-Hypoplasie-/anauxetische Dysplasie-Spektrum, Differentialdiagnose
- Kohlenhydrat-Stoffwechsel-Störungen; Differentialdiagnose
- Kolonkarzinom, "POLE related"
- Koolen-de Vries syndrome; differential diagnosis
- L1-Syndrom, Differentialdiagnose
- Lactose intolerance, primary
- Lafora syndrome, differential diagnosis
- Laing distal myopathy; differential diagnosis
- Larsen-Syndrom, Differentialdiagnose
- Lateral meningocele syndrome, differential diagnosis
- Lebersche kongenitale Amaurose/Abiotrophie, Differentialdiagnose
- Lebervenen-Verschlusskrankheit + Immunschwäche, Differentialdiagnose
- Legius syndrome; differential diagnosis
- Leigh syndrome, differential diagnosis
- Leiomyomatose, mit Nierenzell-Karzinom; Differentialdiagnose
- Lens dislocation
- Léri-Weill-Syndrom
- Lesch-Nyhan syndrome
- Leukaemia, chronic myeloid; hereditary
- Leukämie, akute lymphoblastische, hereditär; Suszeptibilität
- Leukämie, akute myeloische; hereditär
- Leukämie, chronisch lymphatische B-Zell, hereditär; Differentialdiagnose
- Leukämie, chronisch myelomonozytäre; hereditär
- Leukämie, chronisch neutrophile; hereditär
- Leukencephalopathy, differential diagnosis
- Leukenzephalopathie mit Hirnstamm-, Rückenmarksbeteiligung + Laktaterhöhung; Differentialdiagnose
- Leukodystrophie, hypomyelinisierende; Differentialdiagnose
- Leukodystrophies, adult onset, differential diagnosis
- Leukodystrophy, early onset; differential diagnosis
- Leukodystrophy, metachromatic
- Li-Fraumeni syndrome, differential diagnosis
- Liddle syndrome 1-3
- Lipodystrophy, familial; differential diagnosis
- Lipoidproteinosis, differential diagnosis
- Lipoprotein lipase deficiency, differential diagnosis
- Lippen-Kiefer-Gaumen-(Gesichts-)Spalten, Differentialdiagnose
- Lissenzephalie, Differentialdiagnose
- Loeys-Dietz syndrome, differential diagnosis
- Loeys-Dietz-/ Marfan-/ vaskuläres Ehlers-Danlos-Syndrom, Differentialdiagnose
- Long-QT-Syndrom, Differentialdiagnose
- Lowe syndrome, differential diagnosis
- Lung cancer (NSCLC; susceptibility + protection)
- Lungenfibrose, idiopathische familiäre; Differentialdiagnose
- Lungenkarzinom, Adeno-Ca: Suszeptibilität + Protektion
- Lupus [erythematosus], "monogenic"; differential diagnosis
- Lupus erythematodes Suszeptibilität
- Lymph edema, congenital hereditary; differential diagnosis
- Lymphödem-Distichiasis, Differentialdiagnose
- Lymphohistiozytosis, familial hemophagocytic; differential diagnosis
- Lymphoid malignancy, predisposition
- Lymphom, peripheres T-Zell-; somatische Mutationen
- Lymphom, splenisches Marginalzonen- [SMu]
- Lymphoma, diffuse large B-cell (mutations)
- Lymphoma, follicular; prognosis
- Lymphoproliferative disease, X chromosomal; differential diagnosis
- Lysinuric protein intolerance, differential diagnosis
- Macrosomia, congenital; differential diagnosis
- Macrothrombocytopenias, differential diagnosis
- Macular degeneration, early onset; differentialdiagnosis
- Macular dystrophy, vitelliform, differential diagnosis
- Magenkarzinom, hereditär diffus + multifaktoriell bedingt
- Mainzer-Saldino syndrome
- Makula-Degeneration, spät; Differentialdiagnose
- Malignant hyperthermia/central core disease/multiminicore disease
- Maligne Hyperthermie-Suszeptibilität, Differentialdiagnose
- Mamma aplasia / hypoplasia
- Mannosidase deficiency
- Mannosidase deficiency; differential diagnosis
- Marfan syndrome, differential diagnosis
- Marinesco-Sjögren syndrome, differential diagnosis
- Martsolf syndrome, differential diagnosis
- Mayer-Rokitansky-Küster-Hauser syndrome, differential diagnosis
- McCune-Albright syndrome/Fibrous dysplasia, differential diagnosis
- McKusick-Kaufman syndrome; differential diagnosis
- McLeod neuroacanthocytosis syndrome; differential diagnosis
- MDS - mtDNA depletion syndromes, differential diagnosis
- Meacham syndrome
- Meckel[-Gruber] syndrome, differential diagnosis
- Medication metabolism
- Medullär-zystische Nierenerkrankung [ADTKD]; Differentialdiagnose
- Megacystis, LUTO; differential diagnosis
- Megacystis, MMIHS; differential diagnostics
- Megalencephalic leukoencephalopathy with subcortical cysts, differential diagnosis
- Meier-Gorlin-Syndrom, Differentialdiagnose
- Melanom + Nierenzellkarzinom, MITF-assoziiert
- Melanomas, familial + uveal; differential diagnosis
- MELAS - mt enzephalomyopathy, lactacidosis, stroke
- Meningioma, multiple, familial; susceptibility
- Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome 1
- Menke-Hennekam-Syndrom 1; Rubinstein-Taybi-Syndrom 1
- Menke-Hennekam-Syndrom 2; Rubinstein-Taybi-Syndrom 2
- Mentale Retardierung - intellektuelle Defizite; Differentialdiagnose
- Mentale Retardierung bei kortikaler Dysplasie, Differentialdiagnose
- Mentale Retardierung bei Lissenzephalie, Differentialdiagnose
- Mentale Retardierung bei Megalenzephalie, Differentialdiagnose
- Mentale Retardierung mit Hyperphosphatasie, Differentialdiagnose
- Mentale Retardierung, X-chromosomal, nicht-syndromisch; Differentialdiagnose
- MEPAN syndrome, differential diagnosis
- MERRF - Myoklonus-Epilepsie mit ragged-red fibers
- Methylmalonazidämie ohne Homocystinurie, Differentialdiagnose
- Microcephaly (double cortex/subcortical band heterotypia), differential diagnosis
- Microcephaly (patients with Seckel symptoms)
- Microcephaly [patients without Seckel symptoms], differential diagnosis
- Microcephaly + holoprosencephaly spectrum (including septooptic dysplasia); differential diagnosis
- Microcephaly + lissencephaly + cerebellar hypoplasia
- Microcephaly + polymicrogyria, differential diagnosis
- Microcephaly + pontocerebellar hypoplasia, differential diagnosis
- Microcephaly + pseudo TORCH, differential diagnosis
- Microcephaly-Capillary Malformation Syndrome, differential diagnosis
- Microcephaly, isolated, primary/secondary; differential diagnosis
- Microcephaly, predominantly secondary, syndromal; differential diagnosis
- Microcephaly, prenatal + postnatal; differential diagnosis
- Microcephaly, primary/secondary + growth retardation; differential diagnosis
- Microcephaly, short stature, polymicrogyria with / without seizures
- Microphthalmia with Linear Skin Defects Syndrome, differential diagnosis
- Migraine, hemiplegic; differential diagnosis
- Mikrozephalie mit Dysgyrie, Differentialdiagnose
- Mikrozephalie mit Hydranenzephalie, Differentialdiagnose
- Mikrozephalie mit Kleinhirnhypoplasie, Differentialdiagnose
- Mikrozephalie mit Lissenzephalie [dicker Kortex], Differentialdiagnose
- Mikrozephalie mit Lissenzephalie, dünner Kortex
- Mikrozephalie mit mandibulofazialer Dysostose, Differentialdiagnose
- Mikrozephalie mit Muskelschwäche, Differentialdiagnose
- Mikrozephalie mit periventrikulären nodulären Heterotopien, Differentialdiagnose
- Mikrozephalie, Differentialdiagnose
- Milroy disease; differential diagnosis
- MIRAGE syndrome, differential diagnosis
- Mitochondrial diseases, complex I deficiency; differential diagnosis
- Mitochondrial diseases, complex III deficiency; differential diagnosis
- Mitochondrial diseases, complex IV deficiency; differential diagnosis
- Mitochondrial diseases, complex V deficiency; differential diagnosis
- Mitochondrial liver diseases, difrferential diagnosis
- Mitochondriale Erkrankungen; Komplex II-Defizienz; Differentialdiagnose
- MLPA-Dx15
- MNGIE - Mitochondrial neurogastrointestinal encephalomyopathy
- Möbius-Syndrom, Differentialdiagnose
- Monosomy 7 predisposition syndromes, differential diagnosis
- Morbus Alexander
- Morbus Bechterew
- Morbus Caffey, differential diagnosis
- Morbus Crohn, genetic predisposition
- Morbus Danon
- Morbus Fabry
- Morbus Gaucher
- Morbus Gaucher, DD congenital ichthyosis, AR
- Morbus Gaucher, DD hydrops fetalis
- Morbus Gaucher, differential diagnosis
- Morbus Hirschsprung, familial; differential diagnosis
- Morbus Huntington
- Morbus Huntington-ähnliche Krankheit 2, Differentialdiagnose
- Morbus Huntington-like disease 1, differential diagnosis
- Morbus Huntington, differential diagnosis
- Morbus Krabbe
- Morbus Krabbe, differential diagnosis
- Morbus Menière, familial; differential diagnosis
- Morbus Niemann-Pick type A/B
- Morbus Niemann-Pick type C
- Morbus Niemann-Pick, type C; differential diagnosis
- Morbus Paget [der Knochen], Differentialdiagnose
- Morbus Pompe
- Morbus Pompe, differential diagnosis
- Morbus Sandhoff, differential diagnosis
- Morbus Schindler
- Morbus Stargardt, differential diagnosis
- Morbus Waldenström, Mutationen + Prädisposition
- Morbus Wolman, Cholesterol ester storage disease
- Morbus Wolman, differential diagnosis
- Movement disorders, adult onset
- Mowat-Wilson syndrome; differential diagnosis
- MPPH-Syndrom, Differentialdiagnose
- mtDNA maintenance disorders, differential diagnosis
- MTHFR-Defizienz (RFLP)
- MTHFR-Defizienz (Sequenzierung)
- Mucocutaneous venous malformations; differential diagnosis
- Muenke syndrome
- Mukolipidosen, Differentialdiagnosen
- Mukopolysaccharidosen, Differentialdiagnose I
- Mukopolysaccharidosen, Differentialdiagnose II
- Multiple Acyl-CoA Dehydrogenase Deficiency, neonatal; differential diagnosis
- Multiple Acyl-CoA Dehydrogenase Deficiency, non-neonatal; differential diagnosis
- Multiple endocrine neoplasia, MEN; differential diagnosis
- Multiple endokrine Tumore, Differentialdiagnose
- Multiple epiphyseal dysplasia, differential diagnosis
- Multiple gutartige Hauttumore, monogen bedingt; Differentialdiagnose
- Multiples Myelom, Suszeptibilität
- Multiples-Pterygium-Syndrom, lethal; Differentialdiagnose
- Muscle-eye-brain disease, differential diagnosis
- Muscular dystrophy Duchenne/Becker
- Muscular dystrophy, congenital; differential diagnosis
- Muscular dystrophy, congenital; expanded differential diagnosis
- Muscular dystrophy, facio-scapulo-humeral 2; differential diagnosis FSHD
- Muskel-Glykogenosen, Differentialdiagnose
- Mutation confirmation diagnostics for metabolic disorders after newborn screening
- Myasthenes Syndrom, kongenital; Differentialdiagnose
- Myelodysplastisches Syndrom; hereditär
- Myelofibrose, primäre; hereditär
- Myelofibrose, primäre; hereditär
- Myelofibrosis, somatic
- Myeloproliferative neoplasia - genetic predisposition; hereditary
- Myhre syndrome, differential diagnosis
- Myokard-Infarkt, monogen; Differentialdiagnose
- Myoklonus-Dystonie, Differentialdiagnose
- Myopathie, distal; Differentialdiagnose
- Myopathie, mitochondriale, incl. CPEO; Differentialdiagnose
- Myopathie, myofibrilläre; Differentialdiagnose
- Myopathie, nemaline; Differentialdiagnose
- Myopathy, congenital; differential diagnosis
- Myopathy, tubular aggregated; differential diagnosis
- Myotonia congenita
- Nachtblindheit, kongenital; Differentialdiagnose
- Naevus, epidermal; differential diagnosis
- Nail dysplasia, congenital; differential diagnosis
- Nail-patella syndrome
- Nasu-Hakola disease, differential diagnosis
- Nephrolithiasis, Differentialdiagnose
- Nephrolithiasis, expanded panel; differential diagnosis
- Nephronophthisis, tubulointerstitial kidney disease; differential diagnosis
- Nephrotic syndrome, infantile, Steroid-resistant
- Nephrotic syndrome, infantile, Steroid-resistant; large panel
- Netzhaut-Ablösung, Differentialdiagnose
- Neuralgic amyotrophy, differential diagnosis
- Neurodegeneration with brain iron accumulation, NBIA; differential diagnosis
- Neuroendocrine tumors/polyposis, pediatric; differential diagnosis
- Neuroferritinopathy, differential diagnosis
- Neurofibromatosis, differential diagnosis
- Neuronopathie/Muskelatrophie, distale hereditäre; Differentialdiagnose
- Neuropathie, CMT/HMSN, infantil/juvenil; autosomal dominant/X-gebunden; Differentialdiagnose
- Neuropathie, CMT/HMSN, infantil/juvenil; autosomal rezessiv; Differentialdiagnose
- Neuropathie, CMT/HMSN; Differentialdiagnose
- Neuropathie, CMT1/-4 / HMSNI/-IV, demyelinisierend, AD/AR; Differentialdiagnose
- Neuropathie, CMT1/-4/-X, demyelinisierend; Differentialdiagnose
- Neuropathie, CMT2/HMSNII, axonal; Differentialdiagnose
- Neuropathie, distale hereditäre motorische / Muskelatrophien, distale spinale; Differentialdiagnose
- Neuropathie, hereditär, infantil/juvenil; Differentialdiagnose
- Neuropathie, hereditäre motorisch-sensorische, demyelinisierend, Typ I; Differentialdiagnose
- Neuropathie, hereditäre motorische, Kinder/Jugendliche; Differentialdiagnose
- Neuropathie, hereditäre sensorische + autonome - HSN/HSAN; Differentialdiagnose
- Neuropathies: HSN - HSAN - SFN; differential diagnosis
- Neuropathy, auditory; differential diagnosis
- Neuropathy, hereditary motor-sensory, demyelinating; type I - step 1
- Neuropathy, hereditary sensible + autonomous, infantile/juvenile; differential diagnosis
- Neuropathy, hereditary sensory and autonomic type 2; differential diagnosis
- Neuropathy, hereditary sensory and autonomous - HSN/HSAN
- Neuropathy, hereditary with liability for pressure pulsies - HNPP; differential diagnosis
- Neutropenia, cyclic; differential diagnosis
- Neutropenie, kongenital; Differentialdiagnose
- Nicolaides-Baraitser syndrome + Coffin-Siris syndrome; differential diagnosis
- Niere + ableitende Harnwege, kongenitale Anomalien [CAKUT]; Differentialdiagnose
- Nierenagenesie/Nieren(a)dysplasie, Differentialdiagnose
- Nierenkarzinom [Suszeptibilität]
- Nierenkarzinom/-zellkarzinom, erblich; Differentialdiagnose
- Noonan syndrome, differential diagnosis
- Noonan-Syndrom mit multiplen Lentigines, Differentialdiagnose [obsolet: LEOPARD-S.]
- Norrie syndrome
- Nystagmus, infantile; differential diagnosis
- Okihiro syndrome
- Okulo-zerebro-faziales Syndrom, Typ Kaufman; Differentialdiagnose
- Oligodontia, anodontia; differential diagnosis
- Omphalozele, Bauchwanddefekt; Differentialdiagnose
- Optikus-Atrophie, autosomal dominant; Differentialdiagnose
- Optikus-Atrophie, hereditäre; Differentialdiagnose
- Oro-facio-digital syndrome, differential diagnosis
- Ösophagus-Plattenepithel-Karzinom [Suszeptibilität]
- Osteoarthropathy, primary hypertrophic
- Osteochondritis dissecans, differential diagnosis
- Osteochondromas, multiple; differential diagnosis
- Osteogenesis imperfecta, differential diagnosis
- Osteopathia striata - cranial sclerosis, differential diagnosis
- Osteopetrosis, differential diagnosis
- Osteoporosis, monogenic; differential diagnosis
- Otopalatodigital syndrome
- Ovarian cancer / PARP inhibitor therapy
- Ovarian cancer, familial; susceptibility
- Ovarian insufficiency, primary; differential diagnosis
- Overgrowth syndromes, differential diagnosis
- Pachyonychia congenita, differential diagnosis
- Pädiatrische Tumor-Prädisposition, hereditär
- Pallister-Hall syndrome, differential diagnoses
- Pancreatitis, chronic; differential diagnosis
- Pankreas-Karzinom - PARP-Inhibitor-Therapie
- Pankreas-Karzinom [familiäre Krebssyndrome]
- Pankreas-Karzinom [Suszeptibilitäts-Loci]
- Pankreas-Karzinom, nach chronischer Pankreatitis; Differentialdiagnose
- Pantothenate-kinase-associated neurodegeneration, differential diagnosis
- Paraganglioma / pheochromocytoma, differential diagnosis
- Paraganglioma 1 / phaeochromocytoma
- Paraganglioma 3 / phaeochromocytoma
- Paraganglioma 4 / phaeochromocytoma
- Paralyse, hypokaliämische periodische; Differentialdiagnose
- Paralysis, hypercaliaemic periodic
- Paralysis, hypocaliaemic periodic
- Paramyotonia congenita
- Parathyroid cancer, differential diagnosis
- Parkinson-Syndrom + -Krankheit, Differentialdiagnose
- Parkinson-Syndrom, Suszeptibilität
- Paroxysmal CNS disorders [predominantly dyskinesia, predominantly episodic ataxia]; differential diagnosis
- Paroxysmal nocturnal haemoglobinuria 2
- Paroxysmal non-kinesigenic dyskinesia, differential diagnosis
- Pediatric diseases, genetic; differential diagnosis
- Peeling-skin-Syndrom, Differentialdiagnose
- Pelizaeus-Merzbacher disease
- Pena-Shokeir-Syndrom I, Differentialdiagnose
- Pena–Shokeir syndrome II
- Pendred syndrome, differential diagnosis
- Peritoneal carcinoma / PARP inhibitor therapy
- Perlman syndrome
- Peroxisome biogenesis disorders, large panel
- Peroxisomen-Biogenese-Störungen, Zellweger-Spektrum; Differentialdiagnose
- Perrault syndrome, differential diagnosis
- Perry syndrome, differential diagnosis
- Persistent Mullerian duct syndrome
- Peutz-Jeghers syndrome
- PFAPA-Syndrom, Prädisposition/Assoziation; Differentialdiagnose
- Pfeiffer syndrome 1-3
- Phenylketonuria, differential diagnosis
- Photosensitivität, kutane; Differentialdiagnose
- Piebaldismus, Differentialdiagnose
- Pierre-Robin sequence, differential diagnosis
- Pierson syndrome
- Pitt-Hopkins syndrome, differential diagnosis
- Pituitary hormone deficiency, differential diagnosis
- Pituitary tumors, differential diagnosis
- Plasminogen activator inhibitor 1 deficiency, complete; differential diagnosis
- Pleuropulmonary blastoma
- Plötzlicher Tod (<40 Jahren), Differentialdiagnose
- Pneumothorax, familial; differential diagnosis
- Podozytopathien, Differentialdiagnose
- Podozytopathien, syndromal; Differentialdiagnose
- POI - Premature Ovarian Insufficiency [replaces POF]
- Poly-/Syndaktylie, prä- + postaxial; Differentialdiagnose
- Polycystic kidney disease, ARPKD; differential diagnosis
- Polycystic liver disease, differential diagnosis
- Polycythaemia vera, familiär hereditär; Differentialdiagnose
- Polycythemia/paraganglioma/pheochromocytoma, differential diagnosis
- Polymicrogyria, asymmetric
- Polyposis coli, Differentialdiagnose
- Polyposis syndrome, juvenile
- Polyposis syndrome, serrated; differential diagnosis
- Polyposis, APC-assoiated, differential diagnosis
- Polyposis, familial adenomatous 3
- Polyposis, familial adenomatous 4
- Polyposis, familial adenomatous; FAP
- Polyposis, MUTYH associated
- Polyps, hamartomatous [gastrointestinal], differential diagnosis
- Porokeratosis, familial; differential diagnosis
- Porphyria, differential diagnosis
- Porphyria, erythropoetic 1
- Prader-Willi syndrome / Angelman syndrome
- Prader-Willi syndrome, differential diagnosis
- Pränatal auffällige Nackentransparenz, Differentialdiagnose
- Pränatal auffällige Nieren/Urogenitalsystem, Differentialdiagnose
- Pränatal auffälliges Herz, Differentialdiagnose
- Pränatale Holoprosenzephalie, Differentialdiagnose
- Pränatale pontocerebelläre Hypoplasie, Differentialdiagnose
- Pränatale Wachstumsverzögerung, Differentialdiagnose
- Pränataler Hydrozephalus, Differentialdiagnose
- Pränatales Noonan-Syndromspektrum, Differentialdiagnose
- Prenatal akinesia / hypokinesia
- Prenatal anophthalmia / microphthalmia
- Prenatal Dandy-Walker syndrome
- Prenatal DSD
- Prenatal Joubert syndrome spectrum
- Prenatal lissencephaly
- Prenatal VATER/VACTERL association
- Prenatally abnormal fetus - rare syndrome?
- Prenatally abnormal limbs
- Prenatally abnormal skeleton, differential diagnosis
- Primrose syndrome, differential diagnosis
- Progerie-Syndrome, Differentialdiagnose
- Propionic acidaemia
- Prostata-Karzinom [uroweb guidelines]
- Prostata-Karzinom, Keimbahn-Mutationen [NCCN guidelines]
- Prostate cancer, hereditary; Olaparib therapy
- Protein C deficiency; thrombophilia
- Protein S deficiency; thrombophilia
- Proteus syndrome
- Pseudohypoaldosteronism, differential diagnosis
- Pseudohypoparathyreoidism, differential diagnosis
- Pseudohypoparathyreoidismus, Pseudopseudohypoparathyreoidismus
- Pseudoxanthoma elasticum, differential diagnosis
- Psoriasis, generalisierte pustulöse
- PTEN hamartoma tumor syndrome
- Pubertas praecox, central; differential diagnosis
- Pulmonal surfactant protein anomaly, differential diagnosis
- Pulmonale veno-okklusive Krankheit 1+2, Differentialdiagnose
- Pyruvatdehydrogenase deficiency, differential diagnosis
- Pyruvate Carboxylase Deficiency, differential diagnosis
- Refsum-Syndrom, adult, incl. Zellweger-Spektrum; Differentialdiagnose
- Renal coloboma syndrome
- Renal-tubular acidosis, differential diagnosis
- Renal-tubuläre Dysgenesie, Differentialdiagnose
- Rendu-Osler-Weber disease, differential diagnosis
- Retinitis pigmentosa, autosomal dominant; Differentialdiagnose
- Retinitis pigmentosa, autosomal rezessiv; Differentialdiagnose
- Retinitis pigmentosa, ohne weitere Informationen [Einstiegs-panel]
- Retinitis pigmentosa, syndromal
- Retinitis pigmentosa, X-gekoppelt; Differentialdiagnose
- Retinoblastoma
- Retinoschisis
- Rett syndrome
- Rett syndrome, congenital variant
- Rett-like-Syndrom, Differentialdiagnose
- Rhabdoid tumor predisposition
- Rhabdomyosarkom, familiär; Differentialdiagnose
- Riboflavin transporter deficiency, differential diagnosis
- Rickets, hypophosphataemic; differential diagnosis
- Riesenaxon-Neuropathie, Differentialdiagnose
- Ritscher-Schinzel syndrome, differential diagnosis
- Roberts-Syndrom, Differentialdiagnose
- Robinow syndrome, autosomal recessive
- Robinow-Syndrom, AD/XLR; Differentialdiagnose
- Rotor syndrome, differential diagnosis
- Saethre-Chotzen syndrome + Münke syndrome, differential diagnosis
- SANDD syndrome
- Sanjad-Sakati syndrome
- Sarkoidose, Prädisposition
- Schilddrüsen-Dysgenesie, Differentialdiagnose
- Schilddrüsen-Dyshormonogenese, Differentialdiagnose
- Schilddrüsen-Karzinom, hereditäres medulläres; Differentialdiagnose
- Schilddrüsen-Karzinom, hereditäres nicht-medulläres; Differentialdiagnose
- Schilddrüsen-Karzinom, hereditäres; Differentialdiagnose
- Schimmelpenning-Feuerstein-Mims syndrome, differential diagnosis
- Schizencephaly
- Schlafstörungen, primär; Differentialdiagnose
- Schlafstörungen, sekundär; Differentialdiagnose
- Schlaganfall, Differentialdiagnose
- Schwannomatosis, Differentialdiagnose
- Schwartz-Jampel syndrome, differential diagnosis
- Schwerer kombinierter Immundefekt, SCID; Differentialdiagnose
- Segawa syndrome, differential diagnosis
- Seltene hämatologische neoplastische Syndrome; hereditär
- Senior-Loken-Syndrom, Differentialdiagnose
- Sensenbrenner syndrome, differential diagnosis
- Septooptische Dysplasie-Spektrum, Differentialdiagnose
- SERAC1 deficiency, differential diagnosis
- Short bowel syndrome, congenital
- Short-QT-Syndrom, Differentialdiagnose
- Short-rib thoracic dysplasia. differential diagnosis
- Sialinic acid storage disorder, differential diagnosis
- Sickle cell anaemia
- Siegelringzell-Karzinom, Magen; Differentialdiagnose
- Sifrim-Hitz-Weiss syndrome, differential diagnosis
- Silver-Russell syndrome, differential diagnosis
- Simpson-Golabi-Behmel syndrome, differential diagnosis
- Sinusknotendysfunktion, familiäre; Differentialdiagnose
- Sitosterolämie, Differentialdiagnose
- Skeletal dysplasia, differential diagnosis
- Skelettdysplasie, rezessiv; Differentialdiagnose
- Skoliose, früh beginnend; Differentialdiagnose
- Small stature, differential diagnosis
- Smith-Lemli-Opitz syndrome
- Smith-Lemli-Opitz syndrome, differential diagnosis
- Snyder-Robinson syndrome, differential diagnosis
- Sorsby pseudoinflammatory fundus dystrophy, differential diagnosis
- Sotos-Syndrom, Differentialdiagnose
- Spastic ataxias, differential diagnosis
- Spastische Paraplegie, autosomal dominant; Differentialdiagnose
- Spastische Paraplegie, autosomal rezessiv; Differentialdiagnose
- Spastische Paraplegie, infantil; Differentialdiagnose
- Spastische Paraplegie, unkompliziert ("pure"); Differentialdiagnose
- Spastische Paraplegie, X-chromosomal; Differentialdiagnose
- Spermatogenesis, disturbed
- Sphärozytose, hereditäre; Differentialdiagnose
- Spiegelbewegungen, (familiäre) kongenitale; Differentialdiagnose
- Spinale Muskelatrophie Typ 0, I, II, III, IV; Differentialdiagnose
- Spinale Muskelatrophie; SMN1-/SMN2-Gene
- Spinozerebelläre Ataxie 8 – SCA Typ 8
- Spinozerebelläre Ataxie, autosomal dominant; Differentialdiagnose
- Spinozerebelläre Ataxie, autosomal rezessiv; Differentialdiagnose
- Spondylocarpotarsale Synostose, Differentialdiagnose
- Spondyloepimetaphyseal dysplasia, differential diagnosis
- Spondyloepiphyseal dysplasia, differential diagnosis
- Squalen synthase deficiency, differential diagnosis
- Statin toxicity
- Sterility, CBAVD
- Stickler syndrome, differential diagnosis I
- Stickler syndrome, differential diagnosis II; enlargement panel
- Stiff-skin syndrome
- Stomach cancer, predisposition
- Stüve-Wiedemann syndrome
- Submikroskopische Chromosomen-Aberration
- Sudden cardiac death, differential diagnosis
- Sulfatase deficiency, multiple
- Sulfatase deficiency, multiple; differential diagnosis
- Synspondylism
- Tatton-Brown-Rahman syndrome
- Tay-Sachs disease
- Teratozoospermie, Differentialdiagnose
- Thalassaemia alpha
- Thalassaemia beta
- Thalassemia alpha + thalassemia beta
- Thanatophoric dysplasia I/II
- Thanatophoric dysplasia, differential diagnosis
- Thorax-Dystrophien, Differentialdiagnose
- Thrombocyte function disturbances/thrombocytopathies
- Thrombozytopenia-Absent radius syndrome, differential diagnosis
- Thrombozytopenien + Thrombozytopathien, hereditäre; Differentialdiagnose
- Thyroid carcinoma, susceptibility
- Thyroid hormone receptor deficiency, differential diagnosis
- Tibial muscular dystrophy, differential diagnosis
- Torsion dystonia, idiopathic
- TRAPS
- Treacher-Collins-Syndrom, Differentialdiagnose
- Tremor, hereditary essential
- Tricho-hepato-enteric syndrome, differential diagnosis
- Trimethylaminuria, primary; differential diagnosis
- Triple-A syndrome
- Troyer syndrome, differential diagnosis
- TSC2/PKD1 microdeletion syndrome
- Tuberous sclerosis, differential diagnosis
- Tumor predisposition syndrome, BAP1-dependent
- Tumor progression (CNI-monitor for therapy control)
- Tumor-Schnittmengen panel
- Tumor-Syndrome des Nervensystems (ZNS + PNS), familiäre; Differentialdiagnose
- Tyrosinaemia type I-III, differential diagnosis
- Überwachstum, segmentales - PIK3CA; Differentialdiagnose
- Ulna-mamma syndrome
- UNC80-Defizienz: Hypotonie-Sprachstörung-kognitive Entwicklungsverzögerung; Differentialdiagnose
- Uniparentale Disomie 14
- Urea cyle disorders, hyperammonemia; differential diagnosis
- Urofacial syndrome, differential diagnosis
- Usher syndrome type 1
- Usher syndrome type 2
- Usher-Syndrom Typ 1 + 2 + 3, Differentialdiagnose
- Vascular skin disorders
- Vasculopathy, retinal, with cerebral Leukencephalopathy + systemic manifestations
- Vaskulopathie, erblich; Differentialdiagnose
- Vaskulopathie, hereditäre retinale; Differentialdiagnose
- Vici syndrome, differential diagnosis
- Virus-Resistenz, Differentialdiagnose
- Vitreoretinopathie, exsudative familiäre; Differentialdiagnose
- von Hippel-Lindau syndrome
- Vorhofflimmern, familiäres; Differentialdiagnose
- Waardenburg-Shah syndrome
- Waardenburg-Syndrom I-IV, Differentialdiagnose
- Wachstumshormonmangel IV
- WAGR/WAGRO syndrome
- Walker-Warburg syndrome, differential diagnosis
- Warsaw-Breakage syndrome, differential diagnosis
- Weaver syndrome
- Weill-Marchesani syndrome 1-4, differential diagnosis
- Weiße Hirnsubstanz-Erkrankungen, erblich; Differentialdiagnose
- Weiße Hirnsubstanz-Erkrankungen, im Erwachsenenalter; Differentialdiagnose
- White brain matter disorders, childhood onset
- White sponge naevus
- Wiedemann-Steiner-Syndrom, Differentialdiagnose
- Williams-Beuren syndrome, differential diagnosis
- Wilms-Tumor [incl. Suszeptibilität], Differentialdiagnose
- Wiskott-Aldrich syndrome, differential diagnosis
- Wolfram-Syndrom 1 + 2; Differentialdiagnose
- Woolly hair syndrome, isolated; differential diagnosis
- WT1 disorder, DD Wilms tumor predisposition + Steroid-resistant nephrotic syndrome
- WT1 disorder; DD congenital diaphragmatic hernia
- WT1 disorder; DD disorders of testis development + DSD
- Xanthinuria type I + II
- Xeroderma pigmentosum, Trichothiodystrophie/Cockayne-Syndrom; Differentialdiagnose
- Zapfen-Stäbchen-Dystrophie/Makuladystrophie, Differentialdiagnose
- Zerebrale cavernöse Malformation, Differentialdiagnose
- Zerebrale Mikroangiopathie mit Hämorrhagie, Differentialdiagnose
- Zitrullinämie Typ I, Differentialdiagnose
- Zitrullinämie Typ II, Differentialdiagnose
- Zystennieren, ADPKD; Differentialdiagnose
- Zystennieren, familiäre; Differentialdiagnose
Notes on the clinical area
Here you will find the disease-related gene panels available for the clinical area specified above.
If you cannot find the disease you are looking for, please use a known synonym in the search (also in English).
Human genetics
Human genetic diagnostics are used to clarify the hereditary causes of thousands of genetically determined diseases. The aim here is to identify deviations from the reference genome ("wild type") and then, if necessary, to distinguish between neutral variants and pathogenic mutations that are important for the physiological development and undisturbed functioning of the organism. The inheritance patterns of genetically caused diseases are the basis of genetic counselling for patients, persons at risk and affected families.
Over the past 30 years, hundreds of genes that cause hereditary diseases or contribute to the development of genetic disorders have been successively characterised. Current results of genetic research have a direct impact on the diagnostic procedure in the laboratory and in genetic counselling. For example, mutations in independent genes on different chromosomes can cause clinically indistinguishable syndromes (genetic heterogeneity in the eye disease retinitis pigmentosa with >80 different mutated genes). On the other hand, different mutations in one and the same gene lead to clinically clearly separated disease entities (CFTR gene: to the full picture of cystic fibrosis and/or only to CBAVD [Congenital Bilateral Aplasia of the Vas deferens]).
Formal genetics and etiology
Formal genetically and etiologically, the following groups of genetic diseases can be distinguished:
- monogenic diseases (autosomal or X-chromosomal inheritance)
- mitochondrial diseases (maternal or autosomal inheritance)
- multifactorial diseases (interaction of several to many genes plus environmental factors)
Congenital malformations
Congenital malformations often appear sporadically - is there a genetic (co-)cause? More than 7000 hereditary disorders are proven to be based on genetic changes and lead to disorders in the proteins needed in the organism. DNA diagnostics therefore often involves a step-by-step procedure in which the most frequent mutations are first tested before the very rare genetic causes are also identified in parallel approaches using extensive and cost-intensive panel procedures. Mutations found or all variants with unclear significance (VUS) are verified by DNA sequence analysis using Sanger technology. Practically all genetically determined disease entities as well as the corresponding genes and their chromosomal localisation etc. are listed in the OMIM database (https://www.omim.org/) at least monthly with extensive additional information and are accessible to everyone.