ORPHA:441452
Early-onset lamellar cataract
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- 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 lamellar cataract | |
| fr | Cataracte lamellaire précoce | |
| de | Katarakt, lamelläre, früh-beginnende | |
| es | Catarata lamelar de inicio precoz | |
| it | Cataratta lamellare a esordio precoce | |
| nl | Lamellair cataract met vroege aanvang | |
| pt | Catarata lamelar de início precoce | |
| pl | Zaćma wrodzona o wczesnym początku | |
| cs | Lamelární katarakta s časným nástupem | |
| uk | Рання пластинчаста катаракта | |
| zh | 早发性片状性白内障 | |
| tr | Erken başlangıçlı lamelli katarakt |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 116100 | NTBT | validated | |
| OMIM | 600881 | NTBT | validated | |
| OMIM | 613763 | NTBT | validated | |
| ICD-10 | H26.8 | NTBT | attributed | validated |
| MONDO | 0018611 | E | validated | |
| UMLS | C5681191 | 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:98995Early-onset zonular cataract
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
11 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BFSP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1041 | ENSG00000170819 | 603212 | 3q22.1 | beaded filament structural protein 2 | 10729115[PMID]_18958306[PMID] |
| CRYAA | Disease-causing germline mutation(s) in | Assessed | HGNC:2388 | ENSG00000160202 | 123580 | 21q22.3 | crystallin alpha A | 23255486[PMID] |
| CRYAB | Disease-causing germline mutation(s) in | Assessed | HGNC:2389 | ENSG00000109846 | 123590 | 11q23.1 | crystallin alpha B | 16505043[PMID] |
| CRYBA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2394 | ENSG00000108255 | 123610 | 17q11.2 | crystallin beta A1 | 15016766[PMID] |
| CRYBA4 | Disease-causing germline mutation(s) in | Assessed | HGNC:2396 | ENSG00000196431 | 123631 | 22q12.1 | crystallin beta A4 | 16960806[PMID] |
| CRYGB | Disease-causing germline mutation(s) in | Assessed | HGNC:2409 | ENSG00000182187 | 123670 | 2q33.3 | crystallin gamma B | 23288985[PMID] |
| CRYGC | Disease-causing germline mutation(s) in | Assessed | HGNC:2410 | ENSG00000163254 | 123680 | 2q33.3 | crystallin gamma C | 12011157[PMID] |
| CRYGD | Disease-causing germline mutation(s) in | Assessed | HGNC:2411 | ENSG00000118231 | 123690 | 2q33.3 | crystallin gamma D | 12011157[PMID]_21866214[PMID] |
| CRYGS | Disease-causing germline mutation(s) in | Assessed | HGNC:2417 | ENSG00000213139 | 123730 | 3q27.3 | crystallin gamma S | 18587492[PMID]_16141006[PMID] |
| HSF4 | Disease-causing germline mutation(s) in | Assessed | HGNC:5227 | ENSG00000102878 | 602438 | 16q22.1 | heat shock transcription factor 4 | 12089525[PMID] |
| MIP | Disease-causing germline mutation(s) in | Assessed | HGNC:7103 | ENSG00000135517 | 154050 | 12q13.3 | major intrinsic protein of lens fiber | 23116563[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/441452
- This record as JSON: /data/d/441452.json