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Klinische FragestellungC9orf72-FTD + C9orf72-ALS; erweiterte Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein panel für C9orf72-FTD/-ALS - umfassend erweiterte Differentialdiagnose mit 6 Leitlinien-kuratierten "core"/"core candidate"-Genen, insgesamt 12 Leitlinien-kuratierten Genen bzw. zusammen genommen >180 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
FP0131
Anzahl Gene
125 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
14,9 kb (Core-/Core-canditate-Gene)
289,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS + [X]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
C9orf721446NM_018325.5AD
CHMP2B642NM_014043.4AD
FUS1581NM_004960.4AD
HTT9429NM_002111.8AD
SOD1465NM_000454.5AD, AR
TARDBP1245NM_007375.4AD
ABCA76441NM_019112.4Sus
ABCD12238NM_000033.4XLR
ADAR2796NM_001111.5AD, AR
AKAP911724NM_005751.5AR
ALDH18A12388NM_002860.4AD, AR
ALDH3A21458NM_000382.3AR
ALS24974NM_020919.4AR
AMPD22478NM_001368809.2AR
ANG444NM_001145.4AD
ANXA111518NM_001157.3AD
AP4B12220NM_006594.5AR
AP4E13414NM_007347.5AR
AP4M11362NM_004722.4AR
AP4S1480NM_007077.5AR
AP5Z12424NM_014855.3AR
AR2763NM_000044.6XLR
ATAD3A1761NM_001170535.3AD, AR
ATL11677NM_015915.5AD
ATP2B43513NM_001001396.3AD
ATP7B4398NM_000053.4AR
B4GALNT11437NM_001276468.2AR
BICD22568NM_001003800.2AD
BIN11782NM_139343.3AR
BSCL21197NM_032667.6AD
C19orf12459NM_001031726.3AR
CASS42367NM_001164114.2n.k.
CD2AP1920NM_012120.3n.k.
CD331235NM_001082618.2n.k.
CHCHD10429NM_213720.3AD
CLU1350NM_001831.4n.k.
CPT1C2379NM_001136052.3AD
CYP27A11596NM_000784.4AR
CYP2U11635NM_183075.3AR
CYP7B11521NM_004820.5AR
DAO1044NM_001917.5Ass
DCTN13837NM_004082.5AD
DDHD12640NM_001160147.2AR
DDHD22136NM_015214.3AR
DNM22613NM_001005360.3AD
ENTPD11554NM_001098175.2AR
EPHA12949NM_005232.5n.k.
ERBB43927NM_005235.3AD
ERLIN11047NM_006459.4AR
ERLIN21020NM_007175.8AR
FA2H1119NM_024306.5AR
FERMT22150NM_001134999.2n.k.
FIG42724NM_014845.6AD, AR
GAD11785NM_000817.3AR
GBA22784NM_020944.3AR
GBE12109NM_000158.4AR
GJC21320NM_020435.4AR
GRID23024NM_001510.4AR
GRN1782NM_002087.4AD
HEXA1590NM_000520.6AR
HNRNPA11119NM_031157.4AD
HNRNPA2B11026NM_002137.4AD
HSPD11722NM_002156.5AD, AR
IBA571071NM_001010867.4AR
INPP5D3493NM_001017915.3n.k.
KIF1A5073NM_004321.8AD, AR
KIF1C3312NM_006612.6AR
KIF5A3099NM_004984.4AD
KLC22244NM_001134774.2AR
KLC41999
  • Keine OMIM-Gs verknüpft
NM_138343.4AR
L1CAM3774NM_000425.5XLR
MAPT1326NM_005910.6AD
MARS12703NM_004990.3AD, AR
MATR32544NM_199189.3AD
MEF2C1422NM_002397.5AD
MOBP667NM_001278322.2n.k.
MS4A4E1425NM_001351235.2n.k.
MS4A6A762NM_001247999.1n.k.
MTRFR501NM_152269.5AR
NEK13777NM_012224.4AD
NIPA1990NM_144599.5AD
NT5C21686NM_001134373.3AR
OPTN1734NM_021980.4AD, AR
PGAP12769NM_024989.4AR
PICALM1833NM_001008660.3SMu
PLD31473NM_001031696.4AD
PLP1834NM_000533.5XLR
PNPLA63984NM_006702.5AR
PRNP762NM_000311.5AD
PSEN11404NM_000021.4AD
PSEN21347NM_000447.3AD
PTK2B3060NM_004103.4n.k.
REEP1606NM_022912.3AD
REEP2765NM_001271803.2AD, AR
RTN21638NM_005619.5AD
SCFD12219NM_001257376.1n.k.
SETX8034NM_015046.7AD
SLC16A21620NM_006517.5XL
SLC33A11650NM_004733.4AD, AR
SMN1885NM_000344.4AR
SORL16645NM_003105.6Ass
SPART2001NM_015087.5AR
SPAST1851NM_014946.4AD
SPG117332NM_025137.4AR
SPG21927NM_016630.7AR
SPG72388NM_003119.4AD, AR
SPTLC11422NM_006415.4AD
SQSTM11323NM_003900.5AD
TAF151770NM_003487.4Gen Fusion
TBK12190NM_013254.4AD
TECPR23804NM_001172631.3AR
TFG1203NM_006070.6AD, AR
TREM2660NM_001271821.2AR
TUBA4A1347NM_006000.3AD
TUBB4A1335NM_006087.4AD
UBQLN21875NM_013444.4XL
UNC13A5214NM_001080421.3n.k.
UNC5C2796NM_003728.4n.k.
USP83357NM_005154.5AR
VAPB732NM_004738.5AD
VCP2421NM_007126.5AD
WASHC53480NM_014846.4AD
WDR482034NM_020839.4AR
ZFYVE267620NM_015346.4AR
ZFYVE271251NM_001002261.4AD

Infos zur Erkrankung

Synonyme
  • Alias: C9orf72-related Huntington disease phenocopy
  • Alias: C9orf72-related Huntington disease-like syndrome
  • Alias: Huntington disease phenocopy due to C9ORF72 expansions
  • Alias: Huntington disease-like syndrome due to C9ORF72 expansions
  • Allelic: Acne inversa, familial, 3 (PSEN1)
  • Allelic: Adrenomyeloneuropathy, adult (ABCD1)
  • Allelic: Alzheimer disease, type 3, with spastic paraparesis + apraxia (PSEN1)
  • Allelic: Alzheimer disease, type 3, with spastic paraparesis + unusual plaques (PSEN1)
  • Allelic: Androgen insensitivity (AR)
  • Allelic: Androgen insensitivity, partial, with/-out breast cancer (AR)
  • Allelic: Aphasia, primary progressive (GRN)
  • Allelic: Bile acid synthesis defect, congenital, 3 (CYP7B1)
  • Allelic: Brugada syndrome 9 (KCND3)
  • Allelic: Cardiomyopathy, dilated, 1U (PSEN1)
  • Allelic: Cardiomyopathy, dilated, 1V (PSEN2)
  • Allelic: Cerebral amyloid angiopathy, PRNP-related (PRNP)
  • Allelic: Ceroid lipofuscinosis, neuronal, 11 (GRN)
  • Allelic: Chromosome 5q14.3 deletion syndrome (MEF2C)
  • Allelic: Congenital cataracts, hearing loss + neurodegeneration (SLC33A1)
  • Allelic: Corpus callosum, partial agenesis of (L1CAM)
  • Allelic: Creutzfeldt-Jakob disease (PRNP)
  • Allelic: Cutis laxa, AD 3 (ALDH18A1)
  • Allelic: Cutis laxa, AR, type IIIA (ALDH18A1)
  • Allelic: Dermatofibrosarcoma protuberans (PDGFB)
  • Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
  • Allelic: Encephalopathy, acute, infection-induced, herpes-specific, susceptibility to, 8 (TBK1)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 11 (CLCN2)
  • Allelic: Epilepsy, juvenile absence, susceptibility to, 2 (CLCN2)
  • Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 8 (CLCN2)
  • Allelic: Essential tremor, hereditary, 4 (FUS)
  • Allelic: Gerstmann-Straussler disease (PRNP)
  • Allelic: Glaucoma 1, open angle, E (OPTN)
  • Allelic: Glaucoma, normal tension, susceptibility to (OPTN)
  • Allelic: Hydrocephalus due to aqueductal stenosis (L1CAM)
  • Allelic: Hydrocephalus with Hirschsprung disease (L1CAM)
  • Allelic: Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (L1CAM)
  • Allelic: Hyperaldosteronism, familial, type II (CLCN2)
  • Allelic: Hyperferritinemia-cataract syndrome (FTL)
  • Allelic: Hypospadias 1, XL (AR)
  • Allelic: Insomnia, fatal familial (PRNP)
  • Allelic: Interstitial lung and liver disease (MARS syn. MARS1)
  • Allelic: Kuru, susceptibility to (PRNP)
  • Allelic: Lethal congenital contracture syndrome 5 (DNM2)
  • Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
  • Allelic: Long QT syndrome 11 (AKAP9)
  • Allelic: Lopes-Maciel-Rodan syndrome (HTT)
  • Allelic: Lymphatic malformation 3 (GJC2)
  • Allelic: Macular degeneration, age-related, 7 (HTRA1)
  • Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
  • Allelic: Multiple mitochondrial dysfunctions syndrome 3 (IBA57)
  • Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
  • Allelic: Myoclonus, intractable, neonatal (KIF5A)
  • Allelic: Myofibromatosis, infantile 2 (NOTCH3)
  • Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
  • Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
  • Allelic: Neuropathy, hereditary sensory, type ID (ATL1)
  • Allelic: Neuropathy, hereditary sensory, type IIC (KIF1A)
  • Allelic: Paget disease of bone 3 (SQSTM1)
  • Allelic: Pick disease (MAPT, PSEN1)
  • Allelic: Pituitary adenoma 4, ACTH-secreting, somatic (USP8)
  • Allelic: Polymicrogyria, bilateral temporooccipital (FIG4)
  • Allelic: Pontocerebellar hypoplasia, hypotonia, respiratory insuff. syndr., neonat. lethal (ATAD3A)
  • Allelic: Pontocerebellar hypoplasia, type 9 (AMPD2)
  • Allelic: Short-rib thoracic dysplasia 6 with or without polydactyly (NEK1)
  • Allelic: Spongiform encephalopathy with neuropsychiatric features (PRNP)
  • Allelic: Stargardt disease 3 (ELOVL4)
  • Allelic: Stuttering, familial persistent, 1 (AP4E1)
  • Allelic: Supranuclear palsy, progressive (MAPT)
  • Allelic: Supranuclear palsy, progressive atypical (MAPT)
  • Allelic: Yunis-Varon syndrome (FIG4)
  • 3-methylglutaconic aciduria, type I (AUH)
  • Adrenoleukodystrophy (ABCD1)
  • Adrenomyeloneuropathy, adult (ABCD1)
  • Aicardi-Goutieres syndrome 6 (ADAR)
  • Alexander disease (GFAP)
  • Allan-Herndon-Dudley syndrome [ID + muscle atrophy] (SLC16A2)
  • Alternating hemiplegia of childhood 2 (ATP1A3)
  • Alzheimer disease 1, familial (APP)
  • Alzheimer disease 9, susceptibility to (ABCA7)
  • Alzheimer disease, susceptibility to [genereviews] (AKAP9)
  • Alzheimer disease, susceptibility to [genereviews] (CASS4)
  • Alzheimer disease, susceptibility to [genereviews] (CD2AP)
  • Alzheimer disease, susceptibility to [genereviews] (CD33)
  • Alzheimer disease, susceptibility to [genereviews] (CLU)
  • Alzheimer disease, susceptibility to [genereviews] (EPH1)
  • Alzheimer disease, susceptibility to [genereviews] (FERMT2)
  • Alzheimer disease, susceptibility to [genereviews] (HLA-DRB1)
  • Alzheimer disease, susceptibility to [genereviews] (HLA-DRB5)
  • Alzheimer disease, susceptibility to [genereviews] (INP55D)
  • Alzheimer disease, susceptibility to [genereviews] (MS4A4E)
  • Alzheimer disease, susceptibility to [genereviews] (MS4A6A)
  • Alzheimer disease, susceptibility to [genereviews] (PICALM)
  • Alzheimer disease, susceptibility to [genereviews] (PLD3)
  • Alzheimer disease, susceptibility to [genereviews] (PTK2B)
  • Alzheimer disease, susceptibility to [genereviews] (SORL1)
  • Alzheimer disease, susceptibility to [genereviews] (UNC5C)
  • Alzheimer disease, type 3 (PSEN1)
  • Alzheimer disease, type 3, with spastic paraparesis + apraxia (PSEN1)
  • Alzheimer disease, type 3, with spastic paraparesis + unusual plaques (PSEN1)
  • Alzheimer disease-4 (PSEN2)
  • Amyotrophic lateral sclerosis 1 (SOD1)
  • Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
  • Amyotrophic lateral sclerosis 11 (FIG4)
  • Amyotrophic lateral sclerosis 12 with/-out frontotemporal dementia (OPTN)
  • Amyotrophic lateral sclerosis 15, with/-out frontotemporal dementia (UBQLN2)
  • Amyotrophic lateral sclerosis 18 (PFN1)
  • Amyotrophic lateral sclerosis 19 (ERBB4)
  • Amyotrophic lateral sclerosis 2, juvenile (ALS2)
  • Amyotrophic lateral sclerosis 20 (HNRNPA1)
  • Amyotrophic lateral sclerosis 21 (MATR3)
  • Amyotrophic lateral sclerosis 22 with/-out frontotemporal dementia (TUBA4A)
  • Amyotrophic lateral sclerosis 23 (ANXA11)
  • Amyotrophic lateral sclerosis 4, juvenile (SETX)
  • Amyotrophic lateral sclerosis 5, juvenile (SPG11)
  • Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
  • Amyotrophic lateral sclerosis 8 (VABP)
  • Amyotrophic lateral sclerosis 9 (ANG)
  • Amyotrophic lateral sclerosis [MONDO:0004976] (DAO)
  • Amyotrophic lateral sclerosis, susceptibility to (DCTN1)
  • Amyotrophic lateral sclerosis, susceptibility to (TAF15)
  • Amyotrophic lateral sclerosis, susceptibility to (UNC13A)
  • Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
  • Amyotrophic lateral sclerosis, susceptibility to, 25 (KIF5A)
  • 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)
  • Boucher-Neuhauser syndrome (PNPLA6)
  • Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
  • CAPOS syndrome (ATP1A3)
  • CARASIL syndrome (HTRA1)
  • CRASH syndrome (L1CAM)
  • Centronuclear myopathy 1 (DNM2)
  • Centronuclear myopathy 2 (BIN1)
  • Cerebellar ataxia (CP)
  • Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
  • Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
  • 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)
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type (CTSF)
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type), AD (DNAJC5)
  • Ceroid lipofuscinosis, neuronal, 6A (CLN6)
  • Ceroid lipofuscinosis, neuronal, 6B, Kufs type (CLN6)
  • Charcot-Marie-Tooth disease, DI B (DNM2)
  • Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
  • Charcot-Marie-Tooth disease, axonal, type 2U (MARS syn. MARS1)
  • Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
  • Charcot-Marie-Tooth disease, type 4J (FIG4)
  • Chediak-Higashi syndrome (LYST)
  • Choreoacanthocytosis (VPS13A)
  • Combined oxidative phosphorylation deficiency 7 (MTRFR)
  • Creutzfeldt-Jakob disease (PRNP)
  • Dementia, Lewy body (SNCA)
  • Dementia, familial British (ITM2B)
  • Dementia, familial Danish (ITM2B)
  • Dementia, frontotemporal (PSEN1)
  • Dementia, frontotemporal, with/-out parkinsonism (MAPT)
  • Developmental + epileptic encephalopathy 53 (SYNJ1)
  • Developmental + epileptic encephalopathy 89 (GAD1)
  • Developmental + epileptic encephalopathy 99 (ATP1A3)
  • Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
  • Dystonia-12 (ATP1A3)
  • Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
  • Epilepsy, progressive myoclonic 2A, Lafora (EPM2A)
  • 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 5 (CCNF)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (CHMP2B)
  • Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
  • Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
  • GM2-gangliosidosis, several forms (HEXA)
  • Gerstmann-Straussler disease (PRNP)
  • Glycogen storage disease IV (GBE1)
  • HARP syndrome (PANK2)
  • Harel-Yoon syndrome (ATAD3A)
  • Hemosiderosis, systemic, due to aceruloplasminemia (CP)
  • Hereditary motor + sensory neuropathy, Okinawa type (TFG)
  • Huntington disease (HTT_CAG)
  • Huntington disease-like 1 (PRNP)
  • Hyperphenylalaninemia, BH4-deficient, B (GCH1)
  • Hypoceruloplasminemia, hereditary (CP)
  • Ichthyosis, spastic quadriplegia + mental retardation (ELOVL4)
  • Inclusion body myopathy + early-onset Paget disease with/-out frontotemporal dementia 2 (HNRNPA2B1)
  • Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia (HNRNPA1)
  • Infantile neuroaxonal dystrophy 1 (PLA2G6)
  • Kosaki overgrowth syndrome (PDGFRB)
  • Kufor-Rakeb syndrome (ATP13A2)
  • L-ferritin deficiency, AD + AR (FTL)
  • Lateral meningocele syndrome (NOTCH3)
  • Laurence-Moon syndrome (PNPLA6)
  • Leukodystrophy, hypomyelinating, 2 (GJC2)
  • Leukodystrophy, hypomyelinating, 4 (HSPD)
  • Leukoencephalopathy with ataxia (CLCN2)
  • Leukoencephalopathy with brain stem, spinal cord involvement + lactate elevation (DARS2)
  • Leukoencephalopathy with vanishing white matter (EIF2B1)
  • Leukoencephalopathy with vanishing white matter (EIF2B2)
  • Leukoencephalopathy with vanishing white matter (EIF2B3)
  • Leukoencephalopathy with vanishing white matter (EIF2B4)
  • Leukoencephalopathy with vanishing white matter (EIF2B5)
  • Leukoencephalopathy, diffuse hereditary, with spheroids 1 (CSF1R)
  • MASA syndrome (L1CAM)
  • Mast syndrome (SPG21)
  • Meningioma, SIS-related (PDGFB)
  • Metachromatic leukodystrophy (ARSA)
  • Mitochondrial complex III deficiency, nuclear type 2 (TTC19)
  • Myopathy, distal, with rimmed vacuoles (SQSTM1)
  • NESCAV syndrome (KIF1A)
  • 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)
  • Neurodevelopmental disorder, dysmorphic features, spasticity + brain abnormalities (PGAP1)
  • Neurodevelopmental disorder, hypotonia, stereotypic hand movements, impaired language (MEF2C)
  • Neuronopathy, distal hereditary motor, type VB (REEP1)
  • Neuronopathy, distal hereditary motor, type VIIB (DCTN1
  • Neuropathy, distal hereditary motor, type VC (BSCL2)
  • Neuropathy, hereditary sensory + autonomic, type IA (SPTLC1)
  • Neuropathy, hereditary sensory + autonomic, type IX, with developmental delay (TECPR2)
  • Neuropathy, hereditary sensory, type IE (DNMT1)
  • Niemann-Pick disease, types C1 + D (NPC1)
  • Niemann-pick disease, type C2 (NPC2)
  • Oliver-McFarlane syndrome (PNPLA6)
  • Ovarioleukodystrophy (EIF2B2)
  • Ovarioleukodystrophy (EIF2B4)
  • Ovarioleukodystrophy (EIF2B5)
  • Parkinson disease 1 (SNCA)
  • Parkinson disease 14, AR (PLA2G6)
  • Parkinson disease 17 (VPS35)
  • Parkinson disease 19a, juvenile-onset (DNAJC6)
  • Parkinson disease 19b, early-onset (DNAJC6)
  • Parkinson disease 20, early-onset (SYNJ1)
  • Parkinson disease 4 (SNCA)
  • Parkinson disease 6, early onset (PINK1)
  • Parkinson disease 7, AR early-onset (PARK7)
  • Parkinson disease 8 (LRRK2)
  • Parkinson disease, juvenile, type 2 (PRKN)
  • Pelizaeus-Merzbacher disease (PLP1)
  • Perry syndrome (DCTN1)
  • Pick disease (PSEN1)
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (TYROBP)
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
  • Polyglucosan body disease, adult form (GBE1)
  • Pontocerebellar hypoplasia, type 12 (COASY)
  • Premature aging syndrome, Penttinen type (PDGFRB)
  • Primary lateral sclerosis, juvenile (ALS2)
  • Progressive complicated spastic paraplegia [panelapp] (KLC4)
  • Retinal dystrophy with inner retinal dysfunction + ganglion cell abnormalities (ITM2B)
  • Ritscher-Schinzel syndrome 1 [craniocerebellocardiac dysplasia] (WASHC5)
  • Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Silver spastic paraplegia syndrome (BSCL2)
  • Sjogren-Larsson syndrome (ALDH3A2)
  • Spastic ataxia 2, AR (KIF1C)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spastic paralysis, infantile onset ascending (ALS2)
  • Spastic paraplegia 10, AD (KIF5A)
  • Spastic paraplegia 11, AR (SPG11)
  • Spastic paraplegia 12, AD (RTN2)
  • Spastic paraplegia 13, AD (HSPD)
  • Spastic paraplegia 15, AR (ZFYVE26)
  • Spastic paraplegia 18, AR (ERLIN2)
  • Spastic paraplegia 2, XL (PLP1)
  • Spastic paraplegia 26, AR (B4GALNT1)
  • Spastic paraplegia 28, AR (DDHD1)
  • Spastic paraplegia 30, AD (KIF1A)
  • Spastic paraplegia 30, AR (KIF1A)
  • Spastic paraplegia 31, AD (REEP1)
  • Spastic paraplegia 33, AD (ZFYVE17)
  • Spastic paraplegia 35, AR (FA2H)
  • Spastic paraplegia 39, AR (PNPLA6)
  • Spastic paraplegia 3A, AD (ATL1)
  • Spastic paraplegia 4, AD (SPAST)
  • Spastic paraplegia 42, AD (SLC33A1)
  • Spastic paraplegia 43, AR (C19orf12)
  • Spastic paraplegia 44, AR (GJC2)
  • Spastic paraplegia 45, AR (NT5C2)
  • Spastic paraplegia 46, AR (GBA2)
  • Spastic paraplegia 47, AR (AP4B1)
  • Spastic paraplegia 48, AR (AP5Z1)
  • Spastic paraplegia 50, AR (AP4M1)
  • Spastic paraplegia 51, AR (AP4E1)
  • Spastic paraplegia 52, AR (AP4S1)
  • Spastic paraplegia 54, AR (DDHD2)
  • Spastic paraplegia 55, AR (MTRFR)
  • Spastic paraplegia 56, AR (CYP2U1)
  • Spastic paraplegia 57, AR (TFG)
  • Spastic paraplegia 57, AR (USP8)
  • Spastic paraplegia 5A, AR (CYP7B1)
  • Spastic paraplegia 6, AD (NIPA1)
  • Spastic paraplegia 62 (ERLIN1)
  • Spastic paraplegia 63 (AMPD2)
  • Spastic paraplegia 64, AR (ENTPD1)
  • Spastic paraplegia 7, AR (SPG7)
  • Spastic paraplegia 72, AD (REEP2)
  • Spastic paraplegia 72, AR (REEP2)
  • Spastic paraplegia 73, AD (CPT1C)
  • Spastic paraplegia 74, AR (IBA57)
  • Spastic paraplegia 78, AR (ATP13A2)
  • Spastic paraplegia 8, AD (WASHC5)
  • Spastic paraplegia 9A, AD (ALDH18A1)
  • Spastic paraplegia 9B, AR (ALDH18A1)
  • Spastic paraplegia [GeneReviews] (ATP2B4)
  • Spastic paraplegia [GeneReviews] (WDR48)
  • Spastic paraplegia, optic atrophy + neuropathy (KLC2)
  • Spastic tetraplegia + axial hypotonia, progressive (SOD1)
  • Spinal + bulbar muscular atrophy of Kennedy (AR_CAG)
  • Spinal muscular atrophy, Jokela type (CHCHD10)
  • Spinal muscular atrophy, late-onset, Finkel type (VAPB)
  • Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
  • Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
  • Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
  • Spinocerebellar ataxia 13 (KCNC3)
  • Spinocerebellar ataxia 19 (KCND3)
  • Spinocerebellar ataxia 21 (TMEM240)
  • Spinocerebellar ataxia 28 (AFG3L2)
  • Spinocerebellar ataxia 34 (ELOVL4)
  • Spinocerebellar ataxia 42 (CACNA1G)
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
  • Spinocerebellar ataxia 46 (PLD3)
  • Spinocerebellar ataxia, AR 18 (GRID2)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
  • Spongiform encephalopathy with neuropsychiatric features (PRNP)
  • Tay-Sachs disease (HEXA)
  • Troyer syndrome [spastic paraplegia, AR] (SPART)
  • Wilson disease (ATP7B)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Ass
  • Gen Fusion
  • SMu
  • Sus
  • XL
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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