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Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Total congenital cataract

7 OMIM references -
5 associated genes
No signs/symptoms info

Metachondromatosis

Total congenital cataract

PTPN11	(UniProt - OMIM)		CRYBB2	(UniProt - OMIM)
			CRYGB	(UniProt - OMIM)
			EPHA2	(UniProt - OMIM)
			MIP	(UniProt - OMIM)
			NHS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11	(0.77)	EPHA2

Citations in the biomedical literature:

Metachondromatosis		Total congenital cataract

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: 7 OMIM references - 1 MeSH reference: C535341

Metachondromatosis
	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
Total congenital cataract
(no data available)