ORPHA:98984
Pulverulent cataract
Synonyms: Coppock-like cataract · Dusty 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 | Pulverulent cataract | Coppock-like cataract · Dusty cataract |
| fr | Cataracte pulvérulente | Cataracte Coppock-like · Cataracte poussiéreuse |
| de | Katarakt, pulverförmige | Coppock-ähnliche Katarakt |
| es | Catarata pulverulenta | Catarata polvorienta · Catarata tipo Coppock |
| it | Cataratta pulverulenta | Cataratta Coppock-simile · Cataratta polverosa |
| nl | Pulverachtig cataract | Cataract, Coppock-achtig · Stoffig cataract |
| pt | Catarata pulverulenta | |
| pl | Zaćma proszkowa | Zaćma podobna do zaćmy Coppocka |
| cs | Pulverulentní katarakta | Coppockovská katarakta · Prachová katarakta |
| uk | Гнійна катаракта | Коппокоподібна катаракта · Пилова катаракта |
| zh | 粉尘状白内障 | Coppock样白内障 |
| tr | Pulverulent katarakt | Tozlu katarakt · Coppock-benzeri katarakt |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 116300 | BTNT | validated | |
| ICD-10 | Q12.0 | NTBT | attributed | validated |
| ICD-11 | LA12.1 | NTBT | index | validated |
| MONDO | 0011430 | E | validated | |
| MeSH | C563426 | E | validated | |
| UMLS | C1833118 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:98986OBSOLETE: Coppock-like cataract referred to · inactive
4
Genes
9 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GJA8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4281 | ENSG00000121634 | 600897 | 1q21.2 | gap junction protein alpha 8 | 18006672[PMID] |
| BFSP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1041 | ENSG00000170819 | 603212 | 3q22.1 | beaded filament structural protein 2 | 24654948[PMID] |
| CRYBB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2397 | ENSG00000100122 | 600929 | 22q12.1 | crystallin beta B1 | 22267527[PMID]_19461930[PMID]_12360425[PMID] |
| CRYBB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2398 | ENSG00000244752 | 123620 | 22q11.23 | crystallin beta B2 | 10634616[PMID] |
| CRYGC | Disease-causing germline mutation(s) in | Assessed | HGNC:2410 | ENSG00000163254 | 123680 | 2q33.3 | crystallin gamma C | 10914683[PMID]_23954869[PMID] |
| CRYGD | Disease-causing germline mutation(s) in | Assessed | HGNC:2411 | ENSG00000118231 | 123690 | 2q33.3 | crystallin gamma D | 21866214[PMID] |
| GJA3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4277 | ENSG00000121743 | 121015 | 13q12.11 | gap junction protein alpha 3 | 22876138[PMID] |
| MAF | Disease-causing germline mutation(s) in | Assessed | HGNC:6776 | ENSG00000178573 | 177075 | 16q23.2 | MAF bZIP transcription factor | 11772997[PMID]_12642301[PMID] |
| VIM | Disease-causing germline mutation(s) in | Assessed | HGNC:12692 | ENSG00000026025 | 193060 | 10p13 | vimentin | 19126778[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/98984
- This record as JSON: /data/d/98984.json