autosomal dominant cerebellar ataxia, deafness and narcolepsy
Findings
No curated finding names autosomal dominant cerebellar ataxia, deafness and narcolepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011397), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Progressive · Young adult onset
HPO, annotations 2026-09-02
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal rapid eye movement sleepHPOHP:0002494
- 4 of 4 reported patients
- AtaxiaHPOHP:0001251
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- CataplexyHPOHP:0002524
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Excessive daytime somnolenceHPOHP:0001262
- 4 of 4 reported patients
- Optic atrophyHPOHP:0000648
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DNMT1HGNC:2976
- Definitive · ClinGen · Unknown · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: autosomal dominant cerebellar ataxia, deafness and narcolepsy
- Also called
- ADCA-DN syndrome