©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

ErkrankungDemenzen, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Demenzen mit 7 Leitlinien-kuratierten sowie insgesamt 193 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
DP0870
Anzahl Gene
187 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
21,0 kb (Core-/Basis-Gene)
490,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS + X

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
APP2313AD und/oder Mult
C9orf721446AD
CHCHD10429AD
CHMP2B642AD
GRN1782AD und/oder AR
MAPT1326AD und/oder AR und/oder Mult und/oder Sus
NOTCH36966AD und/oder Mult
PRNP762AD
PSEN11404AD
PSEN21347AD
SQSTM11323AD und/oder AR
TARDBP1245AD
AARS22958AR
ABCA76441AD und/oder Sus
ABCD12238XLR
AFG3L22394AD und/oder AR
AHI13591AR
ANO101983AR
APTX1029AR
ARL13B1287AR
ARL3549AD und/oder AR
ARMC93275AR
ARSA1530AR
ATCAY1116AR
ATM9171AD und/oder AR und/oder SMu und/oder Sus
ATP13A23543AR
ATP1A33042AD
ATP8A23567AR
ATXN12448AD
ATXN23462AD
ATXN31086AD und/oder Ass
ATXN72679AD
B9D1615AR
C19orf12459AR
CA8873AR
CACNA1A6786AD und/oder Ass
CACNA1G6945AD
CAMTA15022AD
CBY1510AR
CC2D2A4863AR
CCDC88C6087AD und/oder AR
CEP1043059AR
CEP1202961AR
CEP2907440AR und/oder Dig
CEP411122AR und/oder Dig
CLN31317AR
CLN51077AR
CLN6936AR
CLN8861AR
COASY1695AR
COQ8A1944AR
CP3198AR
CPLANE19864AR
CSF1R2919AD
CSPP13666AR
CST3441AD
CTSA1497AR und/oder Mult
CTSD1239AR
CTSF1455AR
CWF19L11617AR
CYP27A11596AR
DAB11668AD
DCAF171563AR
DNAJC136732AD
DNAJC5597AD
DNMT14899AD und/oder Impr
EEF22577AD
EIF4G14821AD und/oder Sus
ELOVL4945AD und/oder AR
ELOVL5900AD und/oder Ass
EPM2A996AR
FA2H1119AR
FAM149B12067AR
FAT213050AD
FGF14744AD
FLVCR11668AR
FTL528AD und/oder AR
FUS1581AD und/oder AR und/oder Gen Fusion
FXN633AR und/oder Ass
GALC2058AR
GBA1611AD und/oder AR und/oder Sus
GBA22784AR
GIGYF23900Sus
GRID23024AR
GRM13585AD und/oder AR
HEXA1590AR
HEXB1671AR
HNRNPA11119AD
HNRNPA2B11026AD
HTRA11443AD und/oder AR und/oder Mult
HTT9429AD
HYLS1900AR
INPP5E1945AR
INPP5K1119AR
ITM2B801AD
ITPR18088AD und/oder AR
JAM2983AR
JPH3561AD
KATNIP5069AR
KCNC32274AD
KCND31968AD
KCTD7870AR
KIAA05865005AR
KIAA07532989AR
KIF74032AR und/oder Dig
LRRK27584AD und/oder Mult
MFSD81557AR
MKS11680AR
MME2253AD und/oder AR
MRE112127AR
MYORG2146AR
NHLRC11188AR
NPC13837AR
NPC2456AR
NPHP12202AR
OFD13039XL
PANK21713AR
PDE6D453AR
PDGFB726AD
PDGFRB3321AD und/oder Gen Fusion
PDYN765AD
PEX101041AR
PEX62943AD und/oder AR
PIBF12274AR
PIK3R52643AR
PLA2G62421AR
PLD31473AD
PMPCA1875AR
PNKP1566AR
POLG3720AD und/oder AR
PPP2R2B1350AD
PPT1921AR
PRKCG2094AD
PSAP1575AR
PUM13602AD
RNF1681716AR
RPGRIP1L3948AR
RUBCN2784AR
SCARB21437AR
SCYL12642AR
SETX8034AD und/oder AR
SIL11386AR
SLC20A21959AD
SNCA423AD
SNCB405AD
SPTBN27173AD und/oder AR
STUB1912AD und/oder AR
SUFU1455AD und/oder AR
SYNE126250AD und/oder AR
SYT141860AR
TBCE1584AR
TBK12190AD und/oder Ass
TCTN11764AR
TCTN22094AR
TCTN31824AR
TDP11827AR
TDP21089AR
TGM62121AD
TMEM106B832AD
TMEM138489AR
TMEM216438AR
TMEM2311110AR
TMEM2371227AR
TMEM240522AD
TMEM672988AR
TPP11692AR
TREM2660AR
TRPC32766AD
TTBK23735AD
TTPA837AR
TUBB2B1338AD
TWNK2055AD und/oder AR
TYROBP309AR
UBQLN21875XLD
VCP2421AD
VLDLR2622AR
VPS13A9408AR
VPS13D13236AR
VPS352391AD
VPS412625AR
WDR451086XLD
WDR731137AR
WDR815826AR
WWOX1245AR
XK1335XL
XPR12106AD
ZNF4233675AR

Infos zur Erkrankung

Klinischer Kommentar

Ein Viertel aller Menschen im Alter von >55 Jahren wiesen in der Familienanamnese Fälle von Demenz auf. Bei den meisten ist dies auf genetisch komplexe Erkrankungen zurückzuführen, bei der viele genetische Variationen mit geringem Effekt zusammenwirken und das Demenzrisiko erhöhen. Das Lebenszeitrisiko für Demenz beträgt in diesen Familien ca. 20% (10% in der Allgemeinbevölkerung). Wenige Familien zeigen autosomal dominante Vererbung von früh einsetzender Demenz, die oft durch Mutationen in einem der Demenz-Gene mit hoher Penetranz verursacht wird. Neben Alzheimer-Krankheit (AD) können auch frontotemporale und andere familiäre Demenzen molekulargenetisch definiert werden. AD ist die häufigste Form, mit einem geschätzten Lebenszeitrisiko von fast 20% bei Frauen und 10% bei Männern. Die genetischen Grundlagen der AD sind bei den früh auftretenden Formen am besten verstanden, die <1% der Fälle ausmachen und autosomal dominant vererbt werden. Die genetische Grundlage der spät auftretenden AD ist komplexer und wird hier nicht abgedeckt. Die frontotemporale Demenz ist die zweithäufigste Ursache für Demenz, etwa 20-50% der Fälle sind familiär bedingt, wobei in 60% der familiären Fälle Mutationen in drei Genen gefunden werden, von denen C9orf72-Mutationen am häufigsten sind (25 %) und <5 % der Mutationen in weiteren Genen auftreten. Praktisch alle monogenen Formen der Demenz werden autosomal-dominant vererbt. DNA-diagnostische Ausbeuten für monogene Demenzen erreichen bei hoher Familiarität 30%. Die klinische Diagnose kann durch ein negatives molekulargenetisches Ergebnis keinesfalls ausgeschlossen werden.

Referenzen: https://www.ncbi.nlm.nih.gov/books/NBK268647/

https://www.ncbi.nlm.nih.gov/books/NBK1476/

https://www.ncbi.nlm.nih.gov/books/NBK304142/

https://www.ncbi.nlm.nih.gov/books/NBK1371/

https://www.ncbi.nlm.nih.gov/books/NBK1224/

https://www.ncbi.nlm.nih.gov/books/NBK1450/

https://www.ncbi.nlm.nih.gov/books/NBK1197/

https://www.ncbi.nlm.nih.gov/books/NBK1438/

https://www.ncbi.nlm.nih.gov/books/NBK1491/

https://www.ncbi.nlm.nih.gov/books/NBK84112/

 

Synonyme
  • Alias: Alzheimer disease
  • Alias: Frontotemporale Demenz
  • Alias: Parkinson-Demenz
  • Alias: Pick-Demenz
  • Alias: Vaskuläre Demenz
  • Allelic: Acne inversa, familial, 3 (PSEN1)
  • Allelic: Al-Gazali-Bakalinova syndrome (KIF7)
  • Allelic: Alternating hemiplegia of childhood 2 (ATP1A3)
  • Allelic: Alzheimer disease, type 3, with spastic paraparesis + apraxia (PSEN1)
  • Allelic: Alzheimer disease, type 3, with spastic paraparesis + unusual plaques (PSEN1)
  • Allelic: Amyotrophic lateral sclerosis 17 (CHMP2B)
  • Allelic: Amyotrophic lateral sclerosis 20 (HNRNPA1)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
  • Allelic: Aphasia, primary progressive (GRN)
  • Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
  • Allelic: Basal cell nevus syndrome (SUFU)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: Brugada syndrome 9 (KCND3)
  • Allelic: Cardiomyopathy, dilated, 1U (PSEN1)
  • Allelic: Cardiomyopathy, dilated, 1V (PSEN2)
  • Allelic: Ceroid lipofuscinosis, neuronal, 11(GRN)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2T (MME)
  • Allelic: Charcot-Marie-Tooth disease, type 2B2 (PNKP)
  • Allelic: Charcot-Marie-Tooth disease, type 2Y (VCP)
  • Allelic: Dementia, frontotemporal (PSEN1)
  • Allelic: Dermatofibrosarcoma protuberans (PDGFB)
  • Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
  • Allelic: Encephalopathy, acute, infection-induced, herpes-specific, susceptibility to, 8 (TBK1)
  • Allelic: Episodic ataxia, type 2 (CACNA1A)
  • Allelic: Essential tremor, hereditary, 4 (FUS)
  • Allelic: Gaucher disease, perinatal lethal (GBA)
  • Allelic: Gaucher disease, type I + II (GBA)
  • Allelic: Gaucher disease, type IIIC (GBA)
  • Allelic: Heimler syndrome 2 (PEX6)
  • Allelic: Hydrolethalus syndrome 2 (KIF7)
  • Allelic: Hyperferritinemia-cataract syndrome (FTL)
  • Allelic: Inclusion body myopathy, early-onset Paget dis. +/- frontotemp. dement. 2 (HNRNPA2B1)
  • Allelic: Inclusion body myopathy, early-onset Paget dis. without frontotemporal demen. 3 (HNRNPA1)
  • Allelic: Inclusion body myopathy, early-onset Paget disease + frontotemporal dementia 1 (VCP)
  • Allelic: Insomnia, fatal familial (PRNP)
  • Allelic: Kuru, susceptibility to (PRNP)
  • Allelic: L-ferritin deficiency, AD + AR (FTL)
  • Allelic: Lateral meningocele syndrome (NOTCH3)
  • Allelic: Leber congenital amaurosis 10 (CEP290)
  • Allelic: Lopes-Maciel-Rodan syndrome (HTT)
  • Allelic: Macular degeneration, age-related, 11 (CST3)
  • Allelic: Macular degeneration, age-related, 7 (HTRA1)
  • Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
  • Allelic: Macular dystrophy with central cone involvement (MFSD8)
  • Allelic: Meckel syndrome 1 (MKS1)
  • Allelic: Meckel syndrome 11 (TMEM231)
  • Allelic: Meckel syndrome 2 (TMEM216)
  • Allelic: Meckel syndrome 3 (TMEM67)
  • Allelic: Meckel syndrome 4 (CEP290)
  • Allelic: Meckel syndrome 5 (RPGRIP1L)
  • Allelic: Meckel syndrome 6 (CC2D2A)
  • Allelic: Meckel syndrome 8 (TCTN2)
  • Allelic: Meckel syndrome 9 (B9D1)
  • Allelic: Medulloblastoma, desmoplastic (SUFU)
  • Allelic: Meningioma, SIS-related (PDGFB)
  • Allelic: Meningioma, familial, susceptibility to (SUFU)
  • Allelic: Migraine, familial hemiplegic, 1 (CACNA1A)
  • Allelic: Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
  • Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
  • Allelic: Myofibromatosis, infantile 2 (NOTCH3)
  • Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
  • Allelic: Myopathy, distal, with rimmed vacuoles (SQSTM1)
  • Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
  • Allelic: Nephronophthisis 1, juvenile (NPHP1)
  • Allelic: Nephronophthisis 11 (TMEM67)
  • Allelic: Neuropathy, hereditary sensory, type IE (DNMT1)
  • Allelic: Optic atrophy 12 (AFG3L2)
  • Allelic: Paget disease of bone 3 (SQSTM1)
  • Allelic: Parkinson disease 1 + 4 (SNCA)
  • Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
  • Allelic: Parkinson disease, susceptibility to (TBP)
  • Allelic: Perrault syndrome 5 (TWNK)
  • Allelic: Pick disease (MAPT, PSEN1)
  • Allelic: Premature aging syndrome, Penttinen type (PDGFRB)
  • Allelic: Progressive external ophthalmoplegia, AD 1 (POLG1)
  • Allelic: Progressive external ophthalmoplegia, AR 1 (POLG1)
  • Allelic: RHYNS syndrome (TMEM67)
  • Allelic: Retinal dystrophy with inner retinal dysfunction + ganglion cell abnormalities (ITM2B)
  • Allelic: Retinitis pigmentosa 23 (OFD1)
  • Allelic: Retinitis pigmentosa 83 (ARL3)
  • Allelic: Senior-Loken syndrome 6 (CEP290)
  • Allelic: Senior-Loken syndrome-1 (NPHP1)
  • Allelic: Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
  • Allelic: Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
  • Allelic: Short-rib thoracic dysplasia 21 without polydactyly (KIAA9753)
  • Allelic: Spastic paraplegia 43, AR (C19orf12)
  • Allelic: Spinal muscular atrophy, Jokela type (CHCHD10)
  • Allelic: Spinocerebellar ataxia 15 (ITPR1)
  • Allelic: Stargardt disease 3 (ELOVL4)
  • Allelic: Supranuclear palsy, progressive (MAPT)
  • Allelic: Supranuclear palsy, progressive atypical (MAPT)
  • Acrocallosal syndrome (KIF7)
  • Adrenoleukodystrophy (ABCD1)
  • Adrenomyeloneuropathy, adult (ABCD1)
  • Allelic: Nephronophthisis 14 (ZNF423)
  • Alzheimer disease 3 (PSEN1)
  • Alzheimer disease 4 (PSEN2)
  • Alzheimer disease 9, susceptibility to (ABCA7)
  • Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
  • Amyotrophic lateral sclerosis 14, with/-out frontotemporal dementia (VCP)
  • Amyotrophic lateral sclerosis 15, with/-out frontotemporal dementia (UBQLN2)
  • Amyotrophic lateral sclerosis 4, juvenile (SETX)
  • Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
  • Ataxia with isolated vitamin E deficiency (TTPA)
  • Ataxia, cerebellar, Cayman type (ATCAY)
  • Ataxia, early-onset, with oculomotor apraxia + hypoalbuminemia (APTX)
  • Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
  • Ataxia-oculomotor apraxia 3 (PIK3R5)
  • Ataxia-oculomotor apraxia 4 (PNKP)
  • Ataxia-telangiectasia (ATM)
  • Ataxia-telangiectasia-like disorder 1 (MRE11)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 14 (CEP290)
  • Bardet-Biedl syndrome 14, modifier of (TMEM67)
  • Basal ganglia calcification, idiopathic, 1 (SLC20A2)
  • Basal ganglia calcification, idiopathic, 4 (PDGFRB)
  • Basal ganglia calcification, idiopathic, 5 (PDGFB)
  • Basal ganglia calcification, idiopathic, 6 (XPR1)
  • Basal ganglia calcification, idiopathic, 7, AR (MYORG)
  • Basal ganglia calcification, idiopathic, 8, AR (JAM2)
  • Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
  • CAPOS syndrome (ATP1A3)
  • CARASIL syndrome (HTRA1)
  • COACH syndrome 1 (TMEM67)
  • COACH syndrome 2 (CC2D2A)
  • COACH syndrome 3 (RPGRIP1L)
  • Cerebellar ataxia (CP)
  • Cerebellar ataxia + mental retardation with/-out quadrupedal locomotion 3 (CA8)
  • Cerebellar ataxia, deafness, narcolepsy, AD (DNMT1)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 2 (WDR81)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 4 (ATP8A2)
  • Cerebellar ataxia, neuropathy + vestibular areflexia syndrome (RFC1)
  • Cerebellar ataxia, nonprogressive, with mental retardation (CAMTA1)
  • Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
  • Cerebral amyloid angiopathy (CST3)
  • Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants (APP)
  • Cerebral amyloid angiopathy, PRNP-related (PRNP)
  • Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
  • Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Ceroid lipofuscinosis, neuronal, 1 (PPT1)
  • Ceroid lipofuscinosis, neuronal, 10 (CTSD)
  • Ceroid lipofuscinosis, neuronal, 13 (Kufs type), AD (CTSF)
  • Ceroid lipofuscinosis, neuronal, 2 (TPP1)
  • Ceroid lipofuscinosis, neuronal, 3 (CLN3)
  • Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
  • Ceroid lipofuscinosis, neuronal, 4A, Kufs type, AR (CLN6)
  • Ceroid lipofuscinosis, neuronal, 4B, Kufs type, AD (DNAJC5)
  • Ceroid lipofuscinosis, neuronal, 5 (CLN5)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
  • Ceroid lipofuscinosis, neuronal, 8 (CLN8)
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
  • Choreoacanthocytosis (VPS13A)
  • Coenzyme Q10 deficiency, primary, 4 (COQ8A)
  • Combined SAP deficiency (PSAP)
  • Combined oxidative phosphorylation deficiency 8 (AARS2)
  • Congenital hypotonia, epilepsy, developmental delay, digital anomalies (ATN1)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Creutzfeldt-Jakob disease (PRNP)
  • Dementia, Lewy body (SNCA)
  • Dementia, Lewy body (SNCB)
  • Dementia, familial British (ITM2B)
  • Dementia, familial Danish (ITM2B)
  • Dementia, frontotemporal, with/-out parkinsonism (MAPT)
  • Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
  • Developemental + epileptic encephalopathy 42 (CACNA1A)
  • Developmental + epileptic encephalopathy 28 (WWOX)
  • Dystonia-12 (ATP1A3)
  • Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
  • Epilepsy, progressive myoclonic 2A [Lafora] (EPM2A)
  • Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
  • Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
  • Epilepsy, progressive myoclonic 4, with/-out renal failure (SCARB2)
  • Friedreich ataxia (FXN_GAA)
  • Friedreich ataxia with retained reflexes (FX_GAA)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9ORF72_GGGGCC)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (SQSTM1)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (TBK1)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
  • Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
  • Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
  • GM2-gangliosidosis, several forms (HEXA)
  • Galactosialidosis (CTSA)
  • Galloway-Mowat syndrome 1 (WDR73)
  • Gaucher disease, atypical (PSAP)
  • Gaucher disease, type I, II, III, IIIC (GBA)
  • Gaucher disease, type III (GBA)
  • Gerstmann-Straussler disease (PRNP)
  • Gillespie syndrome (ITPR1)
  • HARP syndrome (PANK2)
  • Hemosiderosis, systemic, due to aceruloplasminemia (CP)
  • Hex A pseudodeficiency (HEXA)
  • Huntington disease (HTT_CAG)
  • Huntington disease-like 1 (PRNP)
  • Huntington disease-like 2 (JPH3_CTG)
  • Hydrocephalus, congenital, 1 (CCDC88C)
  • Hydrocephalus, congenital, 3, with brain anomalies (WDR81)
  • Hydrolethalus syndrome (HYLS1)
  • Hypoceruloplasminemia, hereditary (CP)
  • Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
  • Ichthyosis, spastic quadriplegia + mental retardation (ELOVL4)
  • Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
  • Inclusion body myopathy with early-onset Paget disease +/- frontotemporal dementia 2 (HNRNPA2B1)
  • Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 (HNRNPA1)
  • Infantile neuroaxonal dystrophy 1 (PLA2G6)
  • Intellectual disability, cerebellar ataxia, molar tooth sign [panelapp] (CBY1)
  • Joubert syndrome 1 (INPP5E)
  • Joubert syndrome 10 (OFD1)
  • Joubert syndrome 12 (KIF7)
  • Joubert syndrome 13 (TCTN1)
  • Joubert syndrome 14 (TMEM237)
  • Joubert syndrome 15 (CEP41)
  • Joubert syndrome 16 (TMEM138)
  • Joubert syndrome 17 (CPLANE1)
  • Joubert syndrome 18 (TCTN3)
  • Joubert syndrome 19 (ZNF423)
  • Joubert syndrome 2 (TMEM216)
  • Joubert syndrome 20 (TMEM231)
  • Joubert syndrome 21 (CSPP1)
  • Joubert syndrome 22 (PDE6D)
  • Joubert syndrome 23 (KIAA0586)
  • Joubert syndrome 24 (TCTN2)
  • Joubert syndrome 25 (CEP104)
  • Joubert syndrome 26 (KATNIP syn. KIAA0556)
  • Joubert syndrome 27 (B9D1)
  • Joubert syndrome 28 (MKS1)
  • Joubert syndrome 3 (AHI1)
  • Joubert syndrome 30 (ARMC9)
  • Joubert syndrome 31 (CEP120)
  • Joubert syndrome 32 (SUFU)
  • Joubert syndrome 33 (PIBF1)
  • Joubert syndrome 35 (ARL3)
  • Joubert syndrome 36 (FAM149B1)
  • Joubert syndrome 38 (KIAA0753)
  • Joubert syndrome 4 (NPHP1)
  • Joubert syndrome 5 (CEP290)
  • Joubert syndrome 6 (TMEM67)
  • Joubert syndrome 7 (RPGRIP1L)
  • Joubert syndrome 8 (ARL13B)
  • Joubert syndrome 9 (CC2D2A)
  • Joubert syndrome [panelapp] (CBY1)
  • Kenny-Caffey syndrome, type 1 (TBCE)
  • Kosaki overgrowth syndrome (PDGFRB)
  • Krabbe disease (GALC)
  • Krabbe disease, atypical (PSAP)
  • Kufor-Rakeb syndrome (ATP13A2)
  • Leukodystrophy, hypomyelinating, 16 (TMEM106B)
  • Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
  • Leukoencephalopathy, progressive, with ovarian failure (AARS2)
  • Lewy body dementia, susceptibility to (GBA)
  • Machado-Joseph disease (ATXN3_CAG)
  • Marinesco-Sjogren syndrome (SIL1)
  • McLeod syndrome with/-out chronic granulomatous disease (XK)
  • Mental retardation, truncal obesity, retinal dystrophy + micropenis (INPP5E)
  • Metachromatic leukodystrophy (ARSA)
  • Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
  • Microcephaly, seizures + developmental delay (PNKP)
  • Mitochondrial DNA depletion syndrome 4A, Alpers type (POLG1)
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type (POLG1)
  • Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
  • Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG1)
  • Muscular dystrophy, congenital, with cataracts + intellectual disability (INPP5K)
  • Neurodegeneration with ataxia, dystonia + gaze palsy; childhood-onset (SQSTM1)
  • Neurodegeneration with brain iron accumulation 1 (PANK2)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
  • Neurodegeneration with brain iron accumulation 3 (FTL)
  • Neurodegeneration with brain iron accumulation 4 (C19orf12)
  • Neurodegeneration with brain iron accumulation 5 (WDR45)
  • Neurodegeneration with brain iron accumulation 6 (COASY)
  • Neurodegenerative disorder, adult onset [panelapp] (DNAJC13)
  • Niemann-Pick disease, type C2 (NPC2)
  • Niemann-Pick disease, types C1 + D (NPS1)
  • Orofaciodigital syndrome I (OFD1)
  • Orofaciodigital syndrome IV (TCTN3)
  • Orofaciodigital syndrome VI (CPLANE1)
  • Orofaciodigital syndrome XV (KIAA9753)
  • Parkinson disease 1 (Gigyf2)
  • Parkinson disease 14, AR (PLA2G6)
  • Parkinson disease 17 (VPS35)
  • Parkinson disease 18 (EIF4G1)
  • Parkinson disease 24, AD, susceptibility to (PSAP)
  • Parkinson disease 8 (LRRK2)
  • Parkinson disease, late-onset, susceptibility to (GBA)
  • Parkinson disease, susceptibility to (TBP)
  • Peroxisome biogenesis disorder 4A (Zellweger (PEX6)
  • Peroxisome biogenesis disorder 4B (PEX6)
  • Peroxisome biogenesis disorder 6A, Zellweger (PPEX10)
  • Peroxisome biogenesis disorder 6B (PEX10)
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (TYROBP)
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
  • Pontocerebellar hypoplasia, type 12 (COASY)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
  • RIDDLE [radiosensitivity, immunodeficiency, dysmorphic facies, lD] syndrome (RNF168)
  • Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spastic paraplegia 35, AR (FA2H)
  • Spastic paraplegia 46, AR (GBA2)
  • Spastic paraplegia 78, AR (ATP13A2)
  • Spinocerebellar ataxia 1 (ATXN1_CAG)
  • Spinocerebellar ataxia 10 (ATCN10_ATTCT)
  • Spinocerebellar ataxia 11 (TTBK2)
  • Spinocerebellar ataxia 12 (PPP2R2B)
  • Spinocerebellar ataxia 13 (KCNC3)
  • Spinocerebellar ataxia 14 (PRKCG)
  • Spinocerebellar ataxia 17 (TBP)
  • Spinocerebellar ataxia 17 (TBP_CAG)
  • Spinocerebellar ataxia 19 (KCND3)
  • Spinocerebellar ataxia 2 (ATXN2_CAG)
  • Spinocerebellar ataxia 21 (TMEM240)
  • Spinocerebellar ataxia 23 (PDYN)
  • Spinocerebellar ataxia 26 (EEF2)
  • Spinocerebellar ataxia 27 (FGF14)
  • Spinocerebellar ataxia 28 (AFG3L2)
  • Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
  • Spinocerebellar ataxia 31 (BEAN1_TGGAA)
  • Spinocerebellar ataxia 34 (ELOVL4)
  • Spinocerebellar ataxia 35 (TGM6)
  • Spinocerebellar ataxia 36 (NOP56_GGCCTG)
  • Spinocerebellar ataxia 37 (DAB1)
  • Spinocerebellar ataxia 38 (ELOVL5)
  • Spinocerebellar ataxia 40 (CCDC88C)
  • Spinocerebellar ataxia 41 (TRPC3)
  • Spinocerebellar ataxia 42 (CACNA1G)
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
  • Spinocerebellar ataxia 43 (MME)
  • Spinocerebellar ataxia 44 (GRM1)
  • Spinocerebellar ataxia 45 (FAT2)
  • Spinocerebellar ataxia 46 (PLD3)
  • Spinocerebellar ataxia 47 (PUM1)
  • Spinocerebellar ataxia 48 (STUB1)
  • Spinocerebellar ataxia 5 (SPTBN2)
  • Spinocerebellar ataxia 6 (CACNA1A_CAG + CACNA1A)
  • Spinocerebellar ataxia 7 (ATXN7_CAG)
  • Spinocerebellar ataxia, AR 10 (ANO10)
  • Spinocerebellar ataxia, AR 11 (SYT14)
  • Spinocerebellar ataxia, AR 12 (WWOX)
  • Spinocerebellar ataxia, AR 13 (GRM1)
  • Spinocerebellar ataxia, AR 14 (SPTBN2)
  • Spinocerebellar ataxia, AR 15 (RUBCN)
  • Spinocerebellar ataxia, AR 16 (STUB1)
  • Spinocerebellar ataxia, AR 17 (CWF19L1)
  • Spinocerebellar ataxia, AR 18 (GRID2)
  • Spinocerebellar ataxia, AR 2 (PMPCA)
  • Spinocerebellar ataxia, AR 21 (SCYL1)
  • Spinocerebellar ataxia, AR 23 (TDP2)
  • Spinocerebellar ataxia, AR 29 (VPS41)
  • Spinocerebellar ataxia, AR 4 (VPS13D)
  • Spinocerebellar ataxia, AR 7 (TPP1)
  • Spinocerebellar ataxia, AR 8 (SYNE1)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 1 (TDP1)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
  • Spongiform encephalopathy with neuropsychiatric features (PRNP)
  • Tay-Sachs disease (HEXA)
  • Woodhouse-Sakati syndrome (DCAF17)
  • or amyotrophic lateral sclerosis 4 (TBK1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Gen Fusion
  • AD und/oder AR und/oder Mult
  • AD und/oder AR und/oder Mult und/oder Sus
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Ass
  • AD und/oder Gen Fusion
  • AD und/oder Impr
  • AD und/oder Mult
  • AD und/oder Sus
  • AR
  • AR und/oder Ass
  • AR und/oder Dig
  • AR und/oder Mult
  • Sus
  • XL
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
F03

Bioinformatik und klinische Interpretation

Kein Text hinterlegt