ODCs

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Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1

Essential thrombocythemia

3 OMIM references -
5 associated genes
17 signs/symptoms

Anophthalmia/microphthalmia - esophageal atresia

Essential thrombocythemia

SOX2	(UniProt - OMIM)	CALR	(UniProt - OMIM)
		JAK2	(UniProt - OMIM)
		MPL	(UniProt - OMIM)
		TET2	(UniProt - OMIM)
		TP53	(UniProt - OMIM)


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

Citations in the biomedical literature:

Anophthalmia/microphthalmia - esophageal atresia		Essential thrombocythemia
	Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3		Synonym(s): - ET - Essential thrombocytosis

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare hematologic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	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: 1-5 / 10 000 Average age onset: adulthood Average age of death: normal Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: D013920

Anophthalmia/microphthalmia - esophageal atresia		Essential thrombocythemia
	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		Very frequent - Acute ischemic syndrome - Angor pectoris / myocardial infarction - Arterial embolism / thrombosis - Bone marrow anomalies - Cerebral vascular anomalies - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Platelet disorders / thrombopathies - Platelets shape anomalies - Thoracic / chest pain - Transient amaurosis / acute visual trouble - Transient cerebral ischemia / stroke - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Splenomegaly Occasional - Acute leukemia - Myelodysplastic syndrome - Myeloproliferative syndrome / chronic leukemia