ORPHA:1368
Cataract-ataxia-deafness syndrome
historical
Synonyms: Cataract-ataxia-hearing loss syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cataract-ataxia-deafness syndrome | Cataract-ataxia-hearing loss syndrome |
| fr | Syndrome de cataracte-ataxie-surdité | |
| de | Katarakt-Ataxie-Schwerhörigkeit-Syndrom | |
| es | Síndrome de catarata-ataxia-sordera | Síndrome de catarata-ataxia-hipoacusia |
| it | Sindrome cataratta-atassia-sordità | |
| nl | Cataract - ataxie - doofheid-syndroom | Cataract - ataxie - gehoorverlies-syndroom |
| pt | Síndrome de catarata-ataxia-surdez | |
| pl | Zaćma - ataksja - głuchota | = en |
| cs | Syndrom zahrnující kataraktu, ataxii a hluchotu | = en |
| uk | Синдром катаракти-атаксії-глухоти | Синдром катаракти-атаксії-глухоти |
| zh | 白内障-共济失调-耳聋综合征 | 白内障-共济失调-听力丧失综合征 |
| tr | Katarakt-ataksi-sağırlık sendromu | Katarakt-ataksi-işitme kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212710 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0008928 | E | validated | |
| MeSH | C538283 | E | validated | |
| UMLS | C0796123 | E | validated | |
| GARD | 1141 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 1661780[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1661780[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.
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HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008615 | Adult onset sensorineural hearing impairment | |
| HP:0001284 | Areflexia | |
| HP:0001251 | Ataxia | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0000519 | Developmental cataract | |
| HP:0001276 | Hypertonia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0000639 | Nystagmus | |
| HP:0004322 | Short stature | |
| HP:0001337 | Tremor | |
| HP:0000505 | Visual impairment | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1368
- This record as JSON: /data/d/1368.json