ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 2

3 OMIM references -
5 associated genes
17 signs/symptoms

Hypothyroidism due to TSH receptor mutations

Essential thrombocythemia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSHR TSHR	(0.73) (0.65)	JAK2 CALR

Citations in the biomedical literature:

Hypothyroidism due to TSH receptor mutations		Essential thrombocythemia
	Synonym(s): (no synonyms)		Synonym(s): - ET - Essential thrombocytosis

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare hematologic disease - Rare oncologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Neoplasms -

	Epidemiological data: (no data available)		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

Hypothyroidism due to TSH receptor mutations		Essential thrombocythemia
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Absent / hypotonic / flaccid abdominal wall muscles - Anomalies of skin, subcutaneous tissue and mucosae - Constipation - Face / facial anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatitis / icterus / cholestasis - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Macroglossia / tongue protrusion / proeminent / hypertrophic - Sleep and vigilance disorders - Umbilical hernia		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