ORPHA:98991
Early-onset nuclear cataract
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- 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 nuclear cataract | |
| fr | Cataracte nucléaire précoce | |
| de | Katarakt, nukleäre, früh-beginnende | |
| es | Catarata nuclear de inicio precoz | |
| it | Cataratta nucleare a esordio precoce | |
| nl | Nucleair cataract met vroege aanvang | |
| pt | Catarata nuclear de início precoce | |
| pl | Zaćma jądrowa o wczesnym początku | |
| cs | Nukleární katarakta s časným nástupem | |
| uk | Рання ядерна катаракта | |
| zh | 早发性核性白内障 | |
| tr | Erken başlangıçlı nükleer katarakt |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 116400 | BTNT | validated | |
| OMIM | 600881 | NTBT | validated | |
| OMIM | 607304 | BTNT | validated | |
| OMIM | 609376 | BTNT | validated | |
| OMIM | 610019 | BTNT | validated | |
| OMIM | 611391 | BTNT | validated | |
| ICD-10 | Q12.0 | NTBT | attributed | validated |
| ICD-11 | LA12.1 | NTBT | index | validated |
| MONDO | 0020376 | E | validated | |
| UMLS | C5681644 | 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
18 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BFSP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1040 | ENSG00000125864 | 603307 | 20p12.1 | beaded filament structural protein 1 | 24379646[PMID] |
| CRYAA | Disease-causing germline mutation(s) in | Assessed | HGNC:2388 | ENSG00000160202 | 123580 | 21q22.3 | crystallin alpha A | 19390652[PMID]_24074001[PMID]_24384146[PMID] |
| CRYAB | Disease-causing germline mutation(s) in | Assessed | HGNC:2389 | ENSG00000109846 | 123590 | 11q23.1 | crystallin alpha B | 19597569[PMID]_24384146[PMID]_26622071[PMID] |
| CRYBA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2394 | ENSG00000108255 | 123610 | 17q11.2 | crystallin beta A1 | 21686330[PMID]_24384146[PMID] |
| CRYBA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2395 | ENSG00000163499 | 600836 | 2q35 | crystallin beta A2 | 23508780[PMID] |
| CRYBB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2397 | ENSG00000100122 | 600929 | 22q12.1 | crystallin beta B1 | 18432316[PMID]_17460281[PMID]_24384146[PMID] |
| CRYBB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2398 | ENSG00000244752 | 123620 | 22q11.23 | crystallin beta B2 | 19649175[PMID]_24384146[PMID] |
| CRYBB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2400 | ENSG00000100053 | 123630 | 22q11.23 | crystallin beta B3 | 23508780[PMID]_15914629[PMID] |
| CRYGC | Disease-causing germline mutation(s) in | Assessed | HGNC:2410 | ENSG00000163254 | 123680 | 2q33.3 | crystallin gamma C | 18618005[PMID]_24384146[PMID] |
| CRYGD | Disease-causing germline mutation(s) in | Assessed | HGNC:2411 | ENSG00000118231 | 123690 | 2q33.3 | crystallin gamma D | 21031598[PMID]_26147294[PMID]_24384146[PMID] |
| EPHA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3386 | ENSG00000142627 | 176946 | 1p36.13 | EPH receptor A2 | 24014202[PMID] |
| FYCO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14673 | ENSG00000163820 | 607182 | 3p21.31 | FYVE and coiled-coil domain autophagy adaptor 1 | 21636066[PMID]_24384146[PMID] |
| GJA3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4277 | ENSG00000121743 | 121015 | 13q12.11 | gap junction protein alpha 3 | 16234473[PMID]_20431721[PMID]_21552498[PMID] |
| GJA8 | Disease-causing germline mutation(s) in | Assessed | HGNC:4281 | ENSG00000121634 | 600897 | 1q21.2 | gap junction protein alpha 8 | 14627691[PMID]_24384146[PMID] |
| MIP | Disease-causing germline mutation(s) in | Assessed | HGNC:7103 | ENSG00000135517 | 154050 | 12q13.3 | major intrinsic protein of lens fiber | 21245956[PMID]_21647270[PMID]_24384146[PMID] |
| NHS | Disease-causing germline mutation(s) in | Assessed | HGNC:7820 | ENSG00000188158 | 300457 | Xp22.2-p22.13 | NHS actin remodeling regulator | 19414485[PMID]_24968223[PMID]_24384146[PMID] |
| UNC45B | Disease-causing germline mutation(s) in | Assessed | HGNC:14304 | ENSG00000141161 | 611220 | 17q12 | unc-45 myosin chaperone B | 24549050[PMID] |
| WFS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12762 | ENSG00000109501 | 606201 | 4p16.1 | wolframin ER transmembrane glycoprotein | 23531866[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/98991
- This record as JSON: /data/d/98991.json