ODCs

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Familial thrombocytosis

4 OMIM references -
3 associated genes
26 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Infantile myofibromatosis

2 OMIM references -
2 associated genes
31 signs/symptoms

Familial thrombocytosis

Infantile myofibromatosis

JAK2	(UniProt - OMIM)	NOTCH3	(UniProt - OMIM)
MPL	(UniProt - OMIM)	PDGFRB	(UniProt - OMIM)
THPO	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JAK2	(0.65)	PDGFRB

Citations in the biomedical literature:

Familial thrombocytosis		Infantile myofibromatosis
	Synonym(s): - Familial thrombocythemia - Hereditary thrombocythemia		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Neoplasms -

	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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 4 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Early death / lethality

Familial thrombocytosis		Infantile myofibromatosis
	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 - 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 - Bone cyst - Bone / osseous neoplasm / tumor / carcinoma / cancer - Fibromatosis / bone fibroma - Metaphyseal anomaly - Muscle anomalies - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Anomalies of chest / thorax / trunk - Face / facial anomalies - Intestinal / colonic anomaly - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Periarticular tissue anomaly / extraarticular calcifications - Skull / cranial anomalies - Thickened / hypertrophic / fibromatous gingivae Occasional - Anomalies of eyes and vision - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Benign tumor of the brain / nervous system - Chronic skin infection / ulcerations / ulcers / cancrum - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypercalcemia - Intestinal obstruction / ileus - Irregular / in bands / reticular skin hyperpigmentation - Osteolysis / osteoclasia / bone destruction / erosions - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Renal / kidney anomalies - Restricted joint mobility / joint stiffness / ankylosis - Sacro-coccyx / sacrum anomaly - Tracheo-esophageal fistula / esophageal atresia / stenosis