Details of Disease

General Information of Disease (ID: DISUGGCJ)

Disease Name Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Synonyms
autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; ADCADN; autosomal dominant cerebellar ataxia, deafness, and narcolepsy; cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; ADCA-DN; autosomal dominant cerebellar ataxia, deafness and narcolepsy; ADCA-DN syndrome
Definition
Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.
Disease Hierarchy
DIS947AF: Autosomal dominant cerebellar ataxia type I
DISOBM0Q: Sleep-wake disorder
DISUGGCJ: Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Disease Identifiers
MONDO ID
MONDO_0011397
UMLS CUI
C3807295
OMIM ID
604121
MedGen ID
813625
Orphanet ID
314404

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DNMT1 TT6S2FE Definitive Autosomal dominant [1]
DNMT1 TT6S2FE Definitive Biomarker [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NAA50 OTFJ8S47 Strong Biomarker [3]
DNMT1 OTM2DGTK Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.Clin Epigenetics. 2016 Sep 5;8(1):91. doi: 10.1186/s13148-016-0254-x. eCollection 2016.
3 Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.Brain. 2014 Jun;137(Pt 6):1643-55. doi: 10.1093/brain/awu069. Epub 2014 Apr 10.