ODCs

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1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
4 signs/symptoms

Metachondromatosis

Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11	(0.9)	KIT

Citations in the biomedical literature:

Metachondromatosis		Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	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: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: sporadic

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

Metachondromatosis		Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
	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 - Acute leukemia - Eosinophils anomalies / hypereosinophilia - Mastocytosis - Myeloproliferative syndrome / chronic leukemia