ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
18 signs/symptoms

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Uveal coloboma - cleft lip and palate - intellectual deficit


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STAT1	(0.63)	YAP1

Citations in the biomedical literature:

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency		Uveal coloboma - cleft lip and palate - intellectual deficit
	Synonym(s): - MSMD due to partial STAT1 deficiency - MSMD due to partial signal transducer and activator of transcription 1 deficiency - Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		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: No OMIM references No MeSH references		External references: 1 OMIM reference - No MeSH references

Uveal coloboma - cleft lip and palate - intellectual deficit
	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
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
(no data available)