ODCs

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Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Greig cephalopolysyndactyly syndrome

1 OMIM reference -
1 associated gene
24 signs/symptoms

Anophthalmia/microphthalmia - esophageal atresia

Greig cephalopolysyndactyly syndrome

SOX2

(UniProt - OMIM)

GLI3

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX2	(0.63)	GLI3

Citations in the biomedical literature:

Anophthalmia/microphthalmia - esophageal atresia		Greig cephalopolysyndactyly syndrome
	Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3		Synonym(s): - GCPS

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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: 1 OMIM reference - 1 MeSH reference: C537300


COMMON SIGNS	- Autosomal dominant inheritance - Corpus callosum / septum pellucidum total / partial agenesis - Hydrocephaly - Intellectual deficit / mental / psychomotor retardation / learning disability

Anophthalmia/microphthalmia - esophageal atresia		Greig cephalopolysyndactyly syndrome
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Tracheo-esophageal fistula / esophageal atresia / stenosis Frequent - Abnormal vertebral size / shape - 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 - Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis - Patent ductus arteriosus - Rib number anomalies - Sclerocornea - Ventricular septal defect / interventricular communication		Very frequent - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) - Preaxial polydactyly of toes / big toe duplication Frequent - Advanced bone age - Broad nose / nasal bridge - Frontal bossing / prominent forehead - High forehead - Hypertelorism - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Telecanthus / canthal dystopy Occasional - Broad / bifid big toe - Broad / bifid thumb - Craniostenosis / craniosynostosis / sutural synostosis - Diaphragmatic hernia / defect / agenesis - Insterstitial / subtelomeric microdeletion / deletion - Postaxial polydactyly of toes / fifth supernumerary toe - Preaxial polydactyly (hand) - Seizures / epilepsy / absences / spasms / status epilepticus - Umbilical hernia