ODCs

Cytoscape Web

Click node...

Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Primary familial polycythemia

1 OMIM reference -
1 associated gene
15 signs/symptoms

Metachondromatosis

Primary familial polycythemia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11	(0.73)	EPOR

Citations in the biomedical literature:

Metachondromatosis		Primary familial polycythemia
	Synonym(s): (no synonyms)		Synonym(s): - Congenital erythrocytosis due to erythropoietin receptor mutation - Congenital polycythemia due to erythropoietin receptor mutation - Familial erythrocytosis - PFCP - Primary congenital erythrocytosis - Primary familial and congenital polycythemia

	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): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: variable Average age of death: normal Type of inheritance: autosomal dominant

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

Metachondromatosis		Primary familial polycythemia
	Very frequent - Autosomal dominant inheritance - 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 - Asthenia / fatigue / weakness - Dizziness - Epistaxis / nose bleeding - Facial pain / cephalalgia / migraine - Hemoglobinosis / hemoglobinopathy - Red cell disorders - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Acute abdominal pain / colic - Articular / joint pain / arthralgia - Pruritus / itching Occasional - Apnea / sleep apnea - Cough - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Transient cerebral ischemia / stroke