ODCs

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2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
18 signs/symptoms

Isolated delta-storage pool disease

Uveal coloboma - cleft lip and palate - intellectual deficit

FLI1	(UniProt - OMIM)		YAP1	(UniProt - OMIM)
RUNX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RUNX1	(0.84)	YAP1

Citations in the biomedical literature:

Isolated delta-storage pool disease		Uveal coloboma - cleft lip and palate - intellectual deficit
	Synonym(s): - Isolated delta-SPD - Isolated dense-SPD - Isolated dense-storage pool disease		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare hematologic 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: (no data available)		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
Isolated delta-storage pool disease
(no data available)