ORPHA:314404
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Synonyms: ADCA-DN syndrome · Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult
- Status
- active
A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | ADCA-DN syndrome · Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome |
| fr | Syndrome d'ataxie cérébelleuse autosomique dominante-surdité-narcolepsie | syndrome ADCA-DN |
| de | Syndrom der autosomal-dominanten zerebellären Ataxie mit Schwerhörigkeit und Narkolepsie | ADCA-DN · Zerebelläre Ataxie-Schwerhörigkeit-Narkolepsie-Syndrom |
| es | Síndrome de ataxia cerebelosa-sordera-narcolepsia autosómico dominante | Síndrome ADCA-DN · Síndrome de ataxia cerebelosa-hipoacusia-narcolepsia autosómico dominante |
| it | Sindrome atassia cerebellare-sordità-narcolessia autosomica dominante | ADCA-DN · Sindrome atassia cerebellare autosomica dominante-sordità-narcolessia |
| nl | Autosomaal dominante cerebellaire ataxie - doofheid - narcolepsie-syndroom | ADCA-DN-syndroom · Autosomaal dominante cerebellaire ataxie - gehoorverlies - narcolepsie-syndroom |
| pt | Síndrome de ataxia cerebelosa-surdez-narcolepsia autossómica dominante | ADCA-DN · Síndrome de ataxia cerebelosa-surdez-narcolepsia |
| pl | Autosomalny dominujący zespół ataksji móżdżkowej, głuchoty i narkolepsji | Zespół ADCA-DN |
| cs | Autozomálně dominantní cerebelární ataxie, hluchota a narkolepsie | ADCA-DN · Syndrom zahrnující autozomálně dominantní cerebelární ataxii, hluchotu a narkolepsii |
| uk | Аутосомно-домінантний синдром мозочкової атаксії-глухоти-нарколепсії | Синдром ADCA-DN · Аутосомно-домінантний синдром мозочкової атаксії-глухоти-нарколепсії |
| zh | 常染色体显性遗传小脑共济失调、耳聋和嗜睡症 | 常染色体显性遗传小脑共济失调、听力丧失和嗜睡综合征 |
| tr | Otozomal dominant serebellar ataksi-sağırlık-narkolepsi sendromu | ADCA-DN sendromu · Otozomal dominant serebellar ataksi-işitme kaybı-narkolepsi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604121 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| MONDO | 0011397 | E | validated | |
| UMLS | C4302668 | E | validated | |
| GARD | 12372 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases - ORPHA:68354Rare sleep disorder
rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNMT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2976 | ENSG00000130816 | 126375 | 19p13.2 | DNA methyltransferase 1 | 22328086[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 80 cases | Worldwide | Case(s) | Validated | EXPERT | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22328086[PMID]_23904686[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
28 annotations · validated 2018-04-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030050 | Narcolepsy | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0003287 | Abnormality of mitochondrial metabolism | |
| HP:0000648 | Optic atrophy | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0002921 | Abnormality of the cerebrospinal fluid | |
| HP:0001251 | Ataxia | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0003487 | Babinski sign | |
| HP:0000518 | Cataract | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0000716 | Depression | |
| HP:0007082 | Dilated third ventricle | |
| HP:0002346 | Head tremor | |
| HP:0001347 | Hyperreflexia | |
| HP:0002354 | Memory impairment | |
| HP:0001268 | Mental deterioration | |
| HP:0002529 | Neuronal loss in central nervous system | |
| HP:0000639 | Nystagmus | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0003550 | Predominantly lower limb lymphedema | |
| HP:0002476 | Primitive reflex | |
| HP:0002200 | Pseudobulbar signs | |
| HP:0002322 | Resting tremor | |
| HP:0000763 | Sensory neuropathy | |
| HP:0001257 | Spasticity | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 8747854[PMID]_10599806[PMID]_22328086[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314404
- This record as JSON: /data/d/314404.json