ODCs

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4 OMIM references -
3 associated genes
26 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 2

1 OMIM reference -
1 associated gene
12 signs/symptoms

Familial thrombocytosis

Congenital amegakaryocytic thrombocytopenia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JAK2 THPO	(0.66) (0.62)	MPL MPL

Citations in the biomedical literature:

Familial thrombocytosis		Congenital amegakaryocytic thrombocytopenia
	Synonym(s): - Familial thrombocythemia - Hereditary thrombocythemia		Synonym(s): (no synonyms)

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: no data available Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535982

Familial thrombocytosis		Congenital amegakaryocytic thrombocytopenia
	Very frequent - Arterial embolism / thrombosis - Autosomal dominant inheritance - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Platelet disorders / thrombopathies - Platelets shape anomalies - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Acute ischemia of the lower limbs - Acute ischemic syndrome - Facial pain / cephalalgia / migraine - Hyperhidrosis / increased sweating - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Pruritus / itching - Splenomegaly - Thoracic / chest pain - Transient cerebral ischemia / stroke Occasional - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Acute leukemia - Dizziness - Early death / lethality - Elocution disorders / dysarthria / dysphonia - Myelodysplastic syndrome - Myeloproliferative syndrome / chronic leukemia - Pulmonary hypertension - Seizures / epilepsy / absences / spasms / status epilepticus - Spontaneous abortions - Weight loss / loss of appetite / break in weight curve / general health alteration		Very frequent - Hemoglobinosis / hemoglobinopathy - Thrombocytopenia / thrombopenia - X-linked recessive inheritance Frequent - Abnormal vertebral size / shape - Anaemia - Coarse face - Pigmented naevi / naevus pigmentosus / lentigo - Scoliosis - Short neck - Short stature / dwarfism / nanism Occasional - Cardiac septal defect - Poorly ossified skull / calvarium