ORPHA:441447
Early-onset posterior subcapsular cataract
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- 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 subcapsular cataract | |
| fr | Cataracte sous capsulaire postérieure précoce | |
| de | Früh beginnende posteriore subkapsuläre Katarakt | |
| es | Catarata subcapsular posterior de inicio precoz | |
| it | Cataratta subcapsulare posteriore a esordio precoce | |
| nl | Posterieur subcapsulair cataract met vroege aanvang | |
| pt | Catarata subcapsular posterior de início precoce | |
| pl | Zaćma podtorebkowa tylna o wczesnym początku | |
| cs | Zadní subkapsulární katarakta s časným nástupem | |
| uk | Рання задня субкапсулярна катаракта | |
| zh | 早发性后囊状白内障 | |
| tr | Erken başlangıçlı arka subkapsüler katarakt |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 116600 | NTBT | validated | |
| ICD-10 | H26.0 | NTBT | attributed | validated |
| MONDO | 0018610 | E | validated | |
| UMLS | C5681190 | 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
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHMP4B | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:16171 | ENSG00000101421 | 610897 | 20q11.22 | charged multivesicular body protein 4B | 17701905[PMID] |
| CRYBB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2398 | ENSG00000244752 | 123620 | 22q11.23 | crystallin beta B2 | 21245961[PMID] |
| EPHA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3386 | ENSG00000142627 | 176946 | 1p36.13 | EPH receptor A2 | 24014202[PMID] |
| LEMD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:21244 | ENSG00000161904 | 616312 | 6p21.31 | LEM domain nuclear envelope protein 2 | 26788539[PMID] |
| UNC45B | Disease-causing germline mutation(s) in | Assessed | HGNC:14304 | ENSG00000141161 | 611220 | 17q12 | unc-45 myosin chaperone B | 24549050[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/441447
- This record as JSON: /data/d/441447.json