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Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

2 OMIM references -
6 associated genes
No signs/symptoms info

Metachondromatosis

West syndrome

PTPN11	(UniProt - OMIM)		ARX	(UniProt - OMIM)
			CDKL5	(UniProt - OMIM)
			GRIN2B	(UniProt - OMIM)
			PIGA	(UniProt - OMIM)
			SCN2A	(UniProt - OMIM)
			ST3GAL3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11	(0.62)	GRIN2B

Citations in the biomedical literature:

Metachondromatosis		West syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Infantile spasms - Intellectual deficit - hypsarrhythmia

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

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
West syndrome
(no data available)