ODCs

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2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
19 signs/symptoms

Isolated delta-storage pool disease

Anophthalmia/microphthalmia - esophageal atresia

FLI1	(UniProt - OMIM)		SOX2	(UniProt - OMIM)
RUNX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RUNX1	(0.63)	SOX2

Citations in the biomedical literature:

Isolated delta-storage pool disease		Anophthalmia/microphthalmia - esophageal atresia
	Synonym(s): - Isolated delta-SPD - Isolated dense-SPD - Isolated dense-storage pool disease		Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic 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: no data available Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - No MeSH references

Anophthalmia/microphthalmia - esophageal atresia
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Autosomal dominant inheritance - Tracheo-esophageal fistula / esophageal atresia / stenosis Frequent - Abnormal vertebral size / shape - Corpus callosum / septum pellucidum total / partial agenesis - External ear anomalies - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia Occasional - Coloboma of iris - Failure to thrive / difficulties for feeding in infancy / growth delay - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Hypospadias / epispadias / bent penis - Intellectual deficit / mental / psychomotor retardation / learning disability - Micropenis / small penis / agenesis - Patent ductus arteriosus - Rib number anomalies - Sclerocornea - Ventricular septal defect / interventricular communication
Isolated delta-storage pool disease
(no data available)