ODCs

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Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Atypical teratoid tumor

1 OMIM reference -
1 associated gene
16 signs/symptoms

Anophthalmia/microphthalmia - esophageal atresia

Atypical teratoid tumor

SOX2

(UniProt - OMIM)

SMARCB1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX2	(0.73)	SMARCB1

Citations in the biomedical literature:

Anophthalmia/microphthalmia - esophageal atresia		Atypical teratoid tumor
	Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare neurologic disease - Rare oncologic 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: (no data available)

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


COMMON SIGNS	- Hydrocephaly

Anophthalmia/microphthalmia - esophageal atresia		Atypical teratoid tumor
	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 - 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		Very frequent - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Nausea / vomiting / regurgitation / merycism / hyperemesis Frequent - Ataxia / incoordination / trouble of the equilibrium - Early death / lethality - Facial pain / cephalalgia / migraine - Hemiplegia / diplegia / hemiparesia / limb palsy - Macrocephaly / macrocrania / megalocephaly / megacephaly - Muscle weakness / flaccidity - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus - Sleep and vigilance disorders Occasional - Acute palsy - Cranial nerves palsy - Intracranial / cerebral calcifications