ODCs

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Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Axenfeld-Rieger syndrome

3 OMIM references -
2 associated genes
22 signs/symptoms

Anophthalmia/microphthalmia - esophageal atresia

Axenfeld-Rieger syndrome

SOX2	(UniProt - OMIM)		FOXC1	(UniProt - OMIM)
			PITX2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX2	(0.63)	FOXC1

Citations in the biomedical literature:

Anophthalmia/microphthalmia - esophageal atresia		Axenfeld-Rieger syndrome
	Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3		Synonym(s): - Axenfeld syndrome - Rieger syndrome

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic 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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: C535679


COMMON SIGNS	- Autosomal dominant inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypospadias / epispadias / bent penis

Anophthalmia/microphthalmia - esophageal atresia		Axenfeld-Rieger syndrome
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - 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 - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Micropenis / small penis / agenesis - Patent ductus arteriosus - Rib number anomalies - Sclerocornea - Ventricular septal defect / interventricular communication		Very frequent - Aniridia / iris hypoplasia - Anterior chamber anomaly - Embryotoxon Frequent - Congenital cardiac anomaly / malformation / cardiopathy - Everted lower lip - Glaucoma - Hearing loss / hypoacusia / deafness - Mid-facial hypoplasia / short / small midface Occasional - Anodontia / oligodontia / hypodontia - Broad nose / nasal bridge - Complete / partial microdontia - Depressed nasal bridge - Frontal bossing / prominent forehead - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Loose skin / skin relaxation / excess skin / creases - Telecanthus / canthal dystopy