ODCs

Cytoscape Web

Click node...

Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1

HSD10 disease, infantile type

1 associated gene
No signs/symptoms info

Anophthalmia/microphthalmia - esophageal atresia

HSD10 disease, infantile type

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX2	(0.63)	HSD17B10

Citations in the biomedical literature:

Anophthalmia/microphthalmia - esophageal atresia		HSD10 disease, infantile type
	Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3		Synonym(s): - 2-methyl-3-hydroxybutyric aciduria, classic type - 2-methyl-3-hydroxybutyric aciduria, infantile type - 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type - 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type - HSD10 deficiency, classic type - HSD10 deficiency, infantile type - HSD10 disease, classic type - MHBD deficiency, classic type - MHBD deficiency, infantile type

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (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		Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references 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
HSD10 disease, infantile type
(no data available)