ORPHA:98994
Total early-onset cataract
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal 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 | Total early-onset cataract | |
| fr | Cataracte totale précoce | |
| de | Katarakt, totale, früh-beginnende | |
| es | Catarata total de inicio precoz | |
| it | Cataratta totale a esordio precoce | |
| nl | Totaal cataract met vroege aanvang | |
| pt | Catarata total de início precoce | |
| pl | Zaćma całkowita o wczesnym początku | |
| cs | Úplná katarakta s časným nástupem | |
| uk | Тотальна рання катаракта | |
| zh | 早发性全白内障 | |
| tr | Total erken başlangıçlı katarakt |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601547 | BTNT | validated | |
| OMIM | 616509 | BTNT | validated | |
| OMIM | 618415 | BTNT | validated | |
| ICD-10 | Q12.0 | NTBT | attributed | validated |
| ICD-11 | LA12.1 | NTBT | index | validated |
| MONDO | 0021548 | E | validated | |
| MeSH | C535341 | E | validated | |
| UMLS | C0266539 | E | validated | |
| GARD | 1159 | 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:91492Early onset non-syndromic cataract
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
17 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NHS | Candidate gene tested in | Not yet assessed | HGNC:7820 | ENSG00000188158 | 300457 | Xp22.2-p22.13 | NHS actin remodeling regulator | |
| DNMBP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30373 | ENSG00000107554 | 611282 | 10q24.2 | dynamin binding protein | 30290152[PMID] |
| AGK | Disease-causing germline mutation(s) in | Assessed | HGNC:21869 | ENSG00000006530 | 610345 | 7q34 | acylglycerol kinase | 22415731[PMID]_26622071[PMID] |
| CRYAA | Disease-causing germline mutation(s) in | Assessed | HGNC:2388 | ENSG00000160202 | 123580 | 21q22.3 | crystallin alpha A | 16862070[PMID] |
| CRYBB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2398 | ENSG00000244752 | 123620 | 22q11.23 | crystallin beta B2 | 21031021[PMID] |
| CRYGB | Disease-causing germline mutation(s) in | Assessed | HGNC:2409 | ENSG00000182187 | 123670 | 2q33.3 | crystallin gamma B | 23288985[PMID] |
| EPHA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3386 | ENSG00000142627 | 176946 | 1p36.13 | EPH receptor A2 | 19306328[PMID] |
| FYCO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14673 | ENSG00000163820 | 607182 | 3p21.31 | FYVE and coiled-coil domain autophagy adaptor 1 | 26622071[PMID] |
| GCNT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4204 | ENSG00000111846 | 600429 | 6p24.3-p24.2 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | 21761136[PMID]_26622071[PMID] |
| GJA8 | Disease-causing germline mutation(s) in | Assessed | HGNC:4281 | ENSG00000121634 | 600897 | 1q21.2 | gap junction protein alpha 8 | 17601931[PMID] |
| HSF4 | Disease-causing germline mutation(s) in | Assessed | HGNC:5227 | ENSG00000102878 | 602438 | 16q22.1 | heat shock transcription factor 4 | 15277496[PMID]_16876512[PMID] |
| LEMD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:21244 | ENSG00000161904 | 616312 | 6p21.31 | LEM domain nuclear envelope protein 2 | 26788539[PMID] |
| LIM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6610 | ENSG00000105370 | 154045 | 19q13.41 | lens intrinsic membrane protein 2 | 18596884[PMID] |
| LSS | Disease-causing germline mutation(s) in | Assessed | HGNC:6708 | ENSG00000160285 | 600909 | 21q22.3 | lanosterol synthase | 262003412[PMID] |
| MIP | Disease-causing germline mutation(s) in | Assessed | HGNC:7103 | ENSG00000135517 | 154050 | 12q13.3 | major intrinsic protein of lens fiber | 17893667[PMID] |
| PGRMC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:16090 | ENSG00000101856 | 300435 | Xq24 | progesterone receptor membrane component 1 | 33867527[PMID] |
| SIPA1L3 | Disease-causing germline mutation(s) in | Assessed | HGNC:23801 | ENSG00000105738 | 616655 | 19q13.13-q13.2 | signal induced proliferation associated 1 like 3 | 25804400[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/98994
- This record as JSON: /data/d/98994.json