ODCs

Cytoscape Web

Click node...

Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

Familial thrombocytosis

4 OMIM references -
3 associated genes
26 signs/symptoms

Metachondromatosis

Familial thrombocytosis

PTPN11	(UniProt - OMIM)		JAK2	(UniProt - OMIM)
			MPL	(UniProt - OMIM)
			THPO	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11 PTPN11	(0.96) (0.52)	JAK2 MPL

Citations in the biomedical literature:

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

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare hematologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance

Metachondromatosis		Familial thrombocytosis
	Very frequent - Bone pain - Cranial nerves palsy - Enchondroses - Epiphyseal anomaly - Exostoses - Metaphyseal anomaly - Osteonecrosis / bone infarction - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Periarticular tissue anomaly / extraarticular calcifications		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