ODCs

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Familial thrombocytosis

4 OMIM references -
3 associated genes
26 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Growth delay due to insulin-like growth factor I resistance

1 OMIM reference -
1 associated gene
14 signs/symptoms

Familial thrombocytosis

Growth delay due to insulin-like growth factor I resistance

JAK2	(UniProt - OMIM)	IGF1R	(UniProt - OMIM)
MPL	(UniProt - OMIM)
THPO	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JAK2	(0.62)	IGF1R

Citations in the biomedical literature:

Familial thrombocytosis		Growth delay due to insulin-like growth factor I resistance
	Synonym(s): - Familial thrombocythemia - Hereditary thrombocythemia		Synonym(s): - Resistance to IGF-1

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance

Familial thrombocytosis		Growth delay due to insulin-like growth factor I resistance
	Very frequent - Arterial embolism / thrombosis - 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 - Autosomal recessive inheritance - Chromosomal or genetic anomaly - Intrauterine growth retardation - Short stature / dwarfism / nanism Frequent - Abnormally placed nipples - Broad nasal root - Everted lower lip - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Pectus excavatum - Philtrum flat / large / featureless / absent cupidon bows - Short hand / brachydactyly - Thin / retracted lips