Uveal coloboma-cleft lip and palate-intellectual disability
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Uveal coloboma-cleft lip and palate-intellectual disability | |
| fr | Syndrome de colobome-fente labiopalatine-déficience intellectuelle | |
| de | Uvea-Kolobom mit Lippen-Kiefer-Gaumenspalte und Intelligenzminderung | |
| es | Coloboma uveal-fisura labiopalatina-discapacidad intelectual | |
| it | Coloboma dell'uvea-labiopalatoschisi-disabilità intellettiva | |
| nl | Coloboom van uvea - gespleten lip en gehemelte - intellectuele achterstand | |
| pt | Coloboma uveal-fenda lábio-palatina-perturbação do desenvolvimento intelectual | |
| pl | Szczelina błony naczyniowej - rozszczep wargi i podniebienia - niepełnosprawność intelektualna | |
| cs | Syndrom zahrnující kolobom uvey, rozštěp patra a rtu a mentální retardaci | |
| uk | Колобома хоріоідеї - розщілина губи та піднебіння - розумова відсталість | |
| zh | 葡萄膜缺损-唇腭裂-智力障碍三联征 | |
| tr | Uveal koloboma-yarık dudak ve damak-zihinsel yetersizlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 120433 | E | validated | |
| ICD-10 | Q13.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007355 | E | validated | |
| UMLS | C4305003 | E | validated | |
| GARD | 1440 | 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 (4):
- ORPHA:519276Anterior segment developmental anomaly with extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| YAP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16262 | ENSG00000137693 | 606608 | 11q22.1 | Yes1 associated transcriptional regulator | 24462371[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 24462371[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0000790 | Hematuria | |
| HP:0001249 | Intellectual disability | |
| HP:0000612 | Iris coloboma | |
| HP:0000568 | Microphthalmia | |
| Occasional (29-5%) | ||
| HP:0000518 | Cataract | |
| HP:0007957 | Corneal opacity | |
| HP:0000501 | Glaucoma | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000627 | Posterior embryotoxon | |
| HP:0000508 | Ptosis | |
| HP:0000541 | Retinal detachment | |
| HP:0000486 | Strabismus | |
| HP:0000505 | Visual impairment | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1473
- This record as JSON: /data/d/1473.json