ORPHA:98990
Coralliform cataract
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coralliform cataract | |
| fr | Cataracte coralliforme | |
| de | Katarakt, koralliforme | |
| es | Catarata coraliforme | |
| it | Cataratta coralliforme | |
| nl | Koraalvormig cataract | Coralliform cataract |
| pt | Catarata coraliforme | |
| pl | Zaćma koralowa | |
| cs | Korálová katarakta | |
| uk | Коралоподібна катаракта | |
| zh | 珊瑚状白内障 | |
| tr | Coralliform katarakt |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 115800 | BTNT | validated | |
| ICD-10 | Q12.0 | NTBT | attributed | validated |
| ICD-11 | LA12.1 | NTBT | index | validated |
| UMLS | C1392104 | 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 (1):
- ORPHA:98992Early-onset partial cataract
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CRYGD | Disease-causing germline mutation(s) in | Assessed | HGNC:2411 | ENSG00000118231 | 123690 | 2q33.3 | crystallin gamma D | 21552497[PMID]_18334953[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98990
- This record as JSON: /data/d/98990.json