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ErkrankungMorbus Huntington-ähnliche Krankheit 2, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Morbus Huntington-ähnliche Krankheit 2 mit 12 Leitlinien-kuratierten bzw. zusammen genommen 25 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP1780
Anzahl Gene
23 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
35,9 kb (Core-/Basis-Gene)
59,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

X

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ATXN23462AD
ATXN31086AD und/oder Ass
ATXN72679AD
C9orf721446AD
HTT9429AD
JPH3561AD
POLG3720AD und/oder AR
RNF2162772AR
VPS13A9408AR
XK1335XL
APP2313AD und/oder Mult
ATP7B4398AR
FTL528AD und/oder AR
MAPT1326AD und/oder AR und/oder Mult und/oder Sus
NKX2-11206AD
PANK21713AR
PDGFB726AD
PDGFRB3321AD und/oder Gen Fusion
PRNP762AD
PSEN11404AD
PSEN21347AD
SLC20A21959AD
XPR12106AD

Infos zur Erkrankung

Synonyme
  • Huntington Disease-Like 2 (JPH3_CTG)
  • Allelic: Acne inversa, familial, 3 (PSEN1)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
  • Allelic: Cardiomyopathy, dilated, 1U (PSEN1)
  • Allelic: Cardiomyopathy, dilated, 1V (PSEN2)
  • Allelic: Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
  • Allelic: Dermatofibrosarcoma protuberans (PDGFB)
  • Allelic: HARP [hyperprebetalipoproteinem., acanthocytos., RP, pallidal degen.] syndrome (PANK2)
  • Allelic: Hyperferritinemia-cataract syndrome (FTL)
  • Allelic: Kuru, susceptibility to (PRNP)
  • Allelic: L-ferritin deficiency, AD + AR (FTL)
  • Allelic: Lopes-Maciel-Rodan syndrome (HTT)
  • Allelic: Meningioma, SIS-related (PDGFB)
  • Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
  • Allelic: Parkinson disease, susceptibility to (MAPT)
  • Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
  • Alzheimer disease 1, familial (APP)
  • 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)
  • Basal ganglia calcification, idiopathic, 1 (SLC20A2)
  • Basal ganglia calcification, idiopathic, 5 (PDGFB)
  • Basal ganglia calcification, idiopathic, 6 (XPR1)
  • Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
  • Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants (APP)
  • Cerebral amyloid angiopathy, PRNP-related (PRNP)
  • Chorea, hereditary benign (NKX2-1)
  • Choreoacanthocytosis (VPS13A)
  • Choreoathetosis, hypothyroidism, neonatal respiratory distress (NKX2-1)
  • Creutzfeldt-Jakob disease (PRNP)
  • Dementia, frontotemporal (PSEN1)
  • Dementia, frontotemporal, with/-out parkinsonism (MAPT)
  • Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72_GGGGCC)
  • Gerstmann-Straussler disease (PRNP)
  • Huntington disease (HTT_CAG)
  • Huntington disease-like 1 (PRNP)
  • Insomnia, fatal familial (PRNP)
  • Machado-Joseph disease (ATXN3_CAG)
  • McLeod syndrome with/-out chronic granulomatous disease (XK)
  • Mitochondrial AR ataxia s. [incl. SANDO {sensory ataxic neurop., dysarthria, ophthalmopar.}] (POLG)
  • Mitochondrial AR ataxia syndrome [incl. SCAE {SCA + epilepsy}] (POLG)
  • Neurodegeneration with brain iron accumulation 1 (PANK2)
  • Neurodegeneration with brain iron accumulation 3 (FTL)
  • Parkinson disease, susceptibility to (TBP)
  • Pick disease (MAPT)
  • Pick disease (PSEN1)
  • Spinocerebellar ataxia 17 (TBP_CAG)
  • Spinocerebellar ataxia 2 (ATXN2_CAG)
  • Spinocerebellar ataxia 7 (ATXN7_CAG)
  • Spongiform encephalopathy with neuropsychiatric features )PRNP)
  • Supranuclear palsy, progressive (MAPT)
  • Supranuclear palsy, progressive atypical (MAPT)
  • Wilson disease (ATP7B)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Mult und/oder Sus
  • AD und/oder Ass
  • AD und/oder Gen Fusion
  • AD und/oder Mult
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G10

Bioinformatik und klinische Interpretation

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