Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant

Preferred Label : Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant;

Symbol : ADCADN;

CISMeF acronym : ADCADN;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DNA methyltransferase 1 gene (DNMT1, 126375.0003);

Laboratory abnormalities : Decreased CSF hypocretin;

Prefixed ID : #604121;

Details

Origin ID

604121;

UMLS CUI

C3807295;

Currated CISMeF NLP mapping
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome [ORDO Disease]
- autosomal dominant cerebellar ataxia, deafness and narcolepsy [DO Concept]
- cerebellar ataxia, deafness, and narcolepsy [MeSH concept]
- cerebellar ataxia, deafness, and narcolepsy [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant cerebellar ataxia, deafness and narcolepsy [DO Concept]
Genes related to phenotype
- Dna methyltransferase 1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataplexy [HPO term]
- Cerebellar atrophy [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Excessive daytime sleepiness [HPO term]
- Excessive daytime somnolence [HPO term]
- Hyperreflexia [HPO term]
- Memory impairment [HPO term]
- Narcolepsy [HPO term]
- Optic atrophy [HPO term]
- Primitive reflex [HPO term]
- Progressive [HPO term]
- Psychosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome [ORDO Disease]
- autosomal dominant cerebellar ataxia, deafness and narcolepsy [DO Concept]

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