ORPHA:289499
Congenital cataract microcornea with corneal opacity
Synonyms: CCMCO
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital cataract microcornea with corneal opacity | CCMCO |
| fr | Syndrome de cataracte congenitale-microcornée-opacité cornéenne | = en |
| de | Kongenitale Katarakt mit Mikrokornea und Hornhauttrübung | = en |
| es | Catarata congénita con microcórnea y opacidad corneal | = en |
| it | Cataratta congenita con microcornea e opacità corneale | = en |
| nl | Congenitaal cataract met microcornea en cornea-opaciteit | = en |
| pt | Catarata congénita com microcornea e opacidade da córnea | = en |
| pl | Wrodzona zaćma małej rogówki ze zmętnieniem rogówki | = en |
| cs | Vrozená mikrokornea a katarakta s korneální opacitou | = en |
| uk | Вроджена катаракта мікрокорнеа з помутнінням рогівки | = en |
| zh | 先天性白内障小角膜伴角膜混浊 | 先天性白内障小角膜伴角膜混浊 |
| tr | Kornea opasitesi ile seyreden doğumsal katarakt mikrokornea | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269400 | E | validated | |
| ICD-10 | Q12.0 | NTBT | attributed | validated |
| ICD-11 | 9B3Y | NTBT | attributed | validated |
| MONDO | 0010015 | E | validated | |
| UMLS | C5779991 | 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 (2):
- ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PXDN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14966 | ENSG00000130508 | 605158 | 2p25.3 | peroxidasin | 21907015[PMID]_24939590[PMID] |
| ATOH7 | Disease-causing germline mutation(s) in | Assessed | HGNC:13907 | ENSG00000179774 | 609875 | 10q21.3 | atonal bHLH transcription factor 7 | 22068589[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/289499
- This record as JSON: /data/d/289499.json