ORPHA:3233
Cochleosaccular degeneration-cataract syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cochleosaccular degeneration-cataract syndrome | |
| fr | Syndrome de dégénérescence cochléo-sacculaire-cataracte | |
| de | Kochleosakkuläre Degeneration-Katarakt-Syndrom | Syndrom der cochleo-sacculären Degeneration mit Katarakt |
| es | Síndrome de degeneración cocleosacular-catarata | |
| it | Degenerazione cocleosacculare - cataratta | |
| nl | Cochleosacculaire degeneratie - cataract-syndroom | |
| pt | Síndrome de degenerescência cócleo-sacular-catarata | |
| pl | Zwyrodnienie ślimaka i woreczka - zaćma | |
| cs | Syndrom zahrnující kochleosakulární degeneraci a kataraktu | |
| uk | Синдром кохлеосаккуларної дегенерації-катаракти | |
| zh | 蜗球囊变性-白内障综合征 | |
| tr | Kokleosaküler dejenerasyon-katarakt sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 120040 | E | validated | |
| ICD-10 | H83.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0007346 | E | validated | |
| MeSH | C536432 | E | validated | |
| UMLS | C1861512 | E | validated | |
| GARD | 9418 | 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 (3):
- 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.
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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 families | Worldwide | Family(ies) | Validated | 7121157[PMID]_1623624[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7121157[PMID]_1623624[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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000518 | Cataract | |
| HP:0005102 | Cochlear degeneration | |
| HP:0000408 | Progressive sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| Occasional (29-5%) | ||
| HP:0001250 | Seizure | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3233
- This record as JSON: /data/d/3233.json