ORPHA:98989
Cerulean cataract
Synonyms: Blue-dot cataract
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A type of hereditary congenital cataract, distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus, and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerulean cataract | Blue-dot cataract |
| fr | Cataracte céruléenne | Cataracte de Vogt |
| de | Katarakt, zölinblaue | Cataracta coerulea |
| es | Catarata cerúlea | |
| it | Cataratta cerulea | Cataratta con punti blu |
| nl | Cataracta caerulea | Blauwe cataract |
| pt | Catarata cerúlea | |
| pl | Zaćma błękitna | Zaćma "niebieskich kropek |
| cs | Blankytná katarakta | = en |
| uk | Райдужна катаракта | Катаракта з блакитною крапкою |
| zh | 蔚蓝白内障 | 蓝点状白内障 |
| tr | Cerulean katarakt | Mavi-noktalı katarakt |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 115660 | BTNT | validated | |
| OMIM | 614422 | BTNT | validated | |
| ICD-10 | Q12.0 | NTBT | index | validated |
| ICD-11 | LA12.1 | NTBT | index | validated |
| MONDO | 0020374 | E | validated | |
| MeSH | C537955 | E | validated | |
| UMLS | C0344523 | E | validated | |
| GARD | 9508 | E | validated | |
| MedDRA | 10090531 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CRYBB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2398 | ENSG00000244752 | 123620 | 22q11.23 | crystallin beta B2 | 9158139[PMID]_19321936[PMID] |
| CRYGD | Disease-causing germline mutation(s) in | Assessed | HGNC:2411 | ENSG00000118231 | 123690 | 2q33.3 | crystallin gamma D | 12676897[PMID] |
| MAF | Disease-causing germline mutation(s) in | Assessed | HGNC:6776 | ENSG00000178573 | 177075 | 16q23.2 | MAF bZIP transcription factor | 16470690[PMID] |
| MIP | Disease-causing germline mutation(s) in | Assessed | HGNC:7103 | ENSG00000135517 | 154050 | 12q13.3 | major intrinsic protein of lens fiber | 21850180[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98989
- This record as JSON: /data/d/98989.json