ORPHA:98993
Early-onset posterior polar 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 | Early-onset posterior polar cataract | |
| fr | Cataracte polaire postérieure précoce | |
| de | Katarakt, posteriore polare, früh-beginnende | Katarakt, posteriore subkapsuläre |
| es | Catarata polar posterior de inicio precoz | |
| it | Cataratta polare posteriore a esordio precoce | |
| nl | Posterieur polair cataract met vroege aanvang | Posterieur subcapsulair cataract |
| pt | Catarata polar posterior de início precoce | |
| pl | Zaćma biegunowa tylna o wczesnym początku | |
| cs | Zadní polární katarakta s časným nástupem | |
| uk | Рання задня полярна катаракта | |
| zh | 早发性后极性白内障 | |
| tr | Erken başlangıçlı posterior polar katarakt |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600881 | NTBT | validated | |
| OMIM | 613763 | NTBT | validated | |
| OMIM | 619593 | BTNT | validated | |
| ICD-10 | Q12.0 | NTBT | attributed | validated |
| ICD-11 | LA12.1 | NTBT | index | validated |
| MONDO | 0020378 | E | validated | |
| UMLS | C0858617 | 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
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHMP4B | Disease-causing germline mutation(s) in | Assessed | HGNC:16171 | ENSG00000101421 | 610897 | 20q11.22 | charged multivesicular body protein 4B | 17701905[PMID] |
| CRYAB | Disease-causing germline mutation(s) in | Assessed | HGNC:2389 | ENSG00000109846 | 123590 | 11q23.1 | crystallin alpha B | 16877416[PMID]_25195561[PMID] |
| CRYBA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2394 | ENSG00000108255 | 123610 | 17q11.2 | crystallin beta A1 | 20142846[PMID] |
| EPHA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3386 | ENSG00000142627 | 176946 | 1p36.13 | EPH receptor A2 | 19306328[PMID]_23447127[PMID] |
| GJA3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4277 | ENSG00000121743 | 121015 | 13q12.11 | gap junction protein alpha 3 | 21031021[PMID] |
| MIP | Disease-causing germline mutation(s) in | Assessed | HGNC:7103 | ENSG00000135517 | 154050 | 12q13.3 | major intrinsic protein of lens fiber | 25803033[PMID] |
| PANK4 | Disease-causing germline mutation(s) in | Assessed | HGNC:19366 | ENSG00000157881 | 606162 | 1p36.32 | pantothenate kinase 4 (inactive) | 30585370[PMID] |
| PITX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:9006 | ENSG00000107859 | 602669 | 10q24.32 | paired like homeodomain 3 | 16636655[PMID]_21633712[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/98993
- This record as JSON: /data/d/98993.json