Cataract-microcornea syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cataract-microcornea syndrome | |
| fr | Syndrome de cataracte-microcornée | |
| de | Katarakt-Mikrokornea-Syndrom | |
| es | Síndrome de catarata-microcórnea | |
| it | Sindrome cataratta-microcornea | |
| nl | Cataract - microcornea-syndroom | |
| pt | Síndrome de catarata-microcórnea | |
| pl | Zaćma - zespół małej rogówki | |
| cs | Syndrom zahrnující kataraktu a mikrokorneu | |
| uk | Синдром катаракти - мікророгівки | |
| zh | 白内障-小角膜综合征 | |
| tr | Katarakt-mikrokornea sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 115700 | BTNT | validated | |
| OMIM | 116200 | BTNT | validated | |
| OMIM | 601547 | BTNT | validated | |
| OMIM | 604219 | BTNT | validated | |
| ICD-10 | Q13.8 | NTBT | attributed | validated |
| MONDO | 0015300 | E | validated | |
| MeSH | C538287 | E | validated | |
| UMLS | C1861829 | E | validated | |
| GARD | 1155 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CRYAA | Disease-causing germline mutation(s) in | Assessed | HGNC:2388 | ENSG00000160202 | 123580 | 21q22.3 | crystallin alpha A | 21686328[PMID]_21612679[PMID]_17724170[PMID] |
| CRYBA4 | Disease-causing germline mutation(s) in | Assessed | HGNC:2396 | ENSG00000196431 | 123631 | 22q12.1 | crystallin beta A4 | 20577656[PMID] |
| CRYBB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2397 | ENSG00000100122 | 600929 | 22q12.1 | crystallin beta B1 | 16110300[PMID]_21972112[PMID] |
| CRYBB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2398 | ENSG00000244752 | 123620 | 22q11.23 | crystallin beta B2 | 21402992[PMID] |
| CRYGC | Disease-causing germline mutation(s) in | Assessed | HGNC:2410 | ENSG00000163254 | 123680 | 2q33.3 | crystallin gamma C | 22876111[PMID]_19204787[PMID] |
| CRYGD | Disease-causing germline mutation(s) in | Assessed | HGNC:2411 | ENSG00000118231 | 123690 | 2q33.3 | crystallin gamma D | 17724170[PMID] |
| GJA8 | Disease-causing germline mutation(s) in | Assessed | HGNC:4281 | ENSG00000121634 | 600897 | 1q21.2 | gap junction protein alpha 8 | 20806042[PMID]_17724170[PMID] |
| MAF | Disease-causing germline mutation(s) in | Assessed | HGNC:6776 | ENSG00000178573 | 177075 | 16q23.2 | MAF bZIP transcription factor | 17982426[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_25406294[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000518 | Cataract | |
| HP:0000482 | Microcornea | |
| Frequent (79-30%) | ||
| HP:0000545 | Myopia | |
| Occasional (29-5%) | ||
| HP:0001131 | Corneal dystrophy | |
| HP:0007957 | Corneal opacity | |
| HP:0000612 | Iris coloboma | |
| HP:0000639 | Nystagmus | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1377
- This record as JSON: /data/d/1377.json