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Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Cutaneous mastocytoma

1 associated gene
11 signs/symptoms

Metachondromatosis

Cutaneous mastocytoma

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Metachondromatosis		Cutaneous mastocytoma
	Synonym(s): (no synonyms)		Synonym(s): - Cutaneous local mastocytoma - Multiple mastocytoma - Solitary mastocytoma

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

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

	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: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references 1 MeSH reference: D054705

Metachondromatosis		Cutaneous mastocytoma
	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 - Abnormal pigmentary skin changes / skin pigmentation anomalies - Macules - Mastocytosis - Pruritus / itching - Subcutaneous nodules / lipomas / tumefaction / swelling - Urticaria - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Thick skin / pachydermia / orange skin Occasional - Acute abdominal pain / colic - Facial pain / cephalalgia / migraine - Hot flushes / sensation of cold