ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1

3 OMIM references -
5 associated genes
17 signs/symptoms

Glaucoma - ectopia - microspherophakia - stiff joints - short stature

Essential thrombocythemia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBN1	(0.52)	CALR

Citations in the biomedical literature:

Glaucoma - ectopia - microspherophakia - stiff joints - short stature		Essential thrombocythemia
	Synonym(s): - Gemss syndrome		Synonym(s): - ET - Essential thrombocytosis

	Classification (Orphanet): - Rare developmental defect during embryogenesis - 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: variable Average age of death: - 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

Glaucoma - ectopia - microspherophakia - stiff joints - short stature		Essential thrombocythemia
	Very frequent - Autosomal dominant inheritance - Glaucoma - Lens dislocation / luxation / subluxation / ectopia lentis - Short stature / dwarfism / nanism		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