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Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Insulin-resistance syndrome type A

1 OMIM reference -
1 associated gene
9 signs/symptoms

Metachondromatosis

Insulin-resistance syndrome type A

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11	(0.89)	INSR

Citations in the biomedical literature:

Metachondromatosis		Insulin-resistance syndrome type A

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: - Type of inheritance: autosomal dominant

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

Metachondromatosis		Insulin-resistance syndrome type A
	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 - Advanced bone age - Autosomal recessive inheritance - Diffuse / generalised skin hyperpigmentation / melanoderma - Hirsutism / hypertrichosis / Increased body hair - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Insulin-independent / type 2 diabetes - Late puberty / hypogonadism / hypogenitalism - Subcutaneous nodules / lipomas / tumefaction / swelling - Tall stature / gigantism / growth acceleration