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ORPHAN DISEASE CONNECTIONS - (ODCs)

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Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

46,XY partial gonadal dysgenesis

5 OMIM references -
7 associated genes
9 signs/symptoms

Genes and interactions
Diseases info
Signs and symptoms

Anophthalmia/microphthalmia - esophageal atresia

46,XY partial gonadal dysgenesis

SOX2	(UniProt - OMIM)		GATA4	(UniProt - OMIM)
			MAP3K1	(UniProt - OMIM)
			NR0B1	(UniProt - OMIM)
			NR5A1	(UniProt - OMIM)
			SRY	(UniProt - OMIM)
			WT1	(UniProt - OMIM)
			WWOX	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX2	(0.52)	NR5A1

Citations in the biomedical literature:

Anophthalmia/microphthalmia - esophageal atresia
SOX2
46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX

Anophthalmia/microphthalmia - esophageal atresia		46,XY partial gonadal dysgenesis
	Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3		Synonym(s): - 46,XY PGD - 46,XY partial testicular dysgenesis

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 5 OMIM references - No MeSH references


COMMON SIGNS	- Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis

Anophthalmia/microphthalmia - esophageal atresia		46,XY partial gonadal dysgenesis
	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 - Intellectual deficit / mental / psychomotor retardation / learning disability - Patent ductus arteriosus - Rib number anomalies - Sclerocornea - Ventricular septal defect / interventricular communication		Very frequent - Ambiguous genitalia - Female pseudohermaphrodism / virilisation / clitoridomegaly - Mixed gonadal dysgenesis - Testis anomalies Occasional - Cortico-adrenal hypoplasia / insufficiency - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)