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Uveal coloboma - cleft lip and palate - intellectual deficit
1 OMIM reference -
1 associated gene
54 connected diseases
18 signs/symptoms
Disease Type of connection
Split hand-split foot malformation
Amyotrophic lateral sclerosis
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Coffin-Siris syndrome
Helicoid peripapillary chorioretinal degeneration
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Hepatocellular carcinoma, childhood-onset
Isolated delta-storage pool disease
Pilomatrixoma
17p13.3 microduplication syndrome
Congenital communicating hydrocephalus
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Neurofibromatosis type 2
Neurofibromatosis type 3
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Cleidocranial dysplasia
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Cardiofaciocutaneous syndrome
Holt-Oram syndrome
Acute promyelocytic leukemia
Aneurysm - osteoarthritis syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant spastic paraplegia type 10
Cerebellar ataxia - hypogonadism
Chronic mucocutaneous candidiasis
EEM syndrome
Familial gastric cancer
Familial thoracic aortic aneurysm and aortic dissection
Gastric linitis plastica
Giant cell glioblastoma
Gliosarcoma
Hypotrichosis with juvenile macular degeneration
Melanoma of soft part
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Syndromic multisystem autoimmune disease due to Itch deficiency
Cowden syndrome
Precursor T-cell acute lymphoblastic leukemia
Proteus syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
6q25 microdeletion syndrome
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Intellectual deficit - sparse hair - brachydactyly
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
YAP1 P46937606608
Very frequent
- Autosomal dominant inheritance
- Retinoschisis / retinal / chorioretinal coloboma
- Sensorineural deafness / hearing loss

Frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cleft lip and palate
- Coloboma of iris
- Hematuria / microhematuria
- Intellectual deficit / mental / psychomotor retardation / learning disability

Occasional
- Cataract / lens opacification
- Corneal clouding / opacity / vascularisation
- Embryotoxon
- Glaucoma
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Ptosis
- Retinal detachment
- Strabismus / squint
- Visual loss / blindness / amblyopia