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Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Childhood-onset nemaline myopathy

6 associated genes
No signs/symptoms info

Metachondromatosis

Childhood-onset nemaline myopathy

PTPN11	(UniProt - OMIM)		ACTA1	(UniProt - OMIM)
			KBTBD13	(UniProt - OMIM)
			KLHL41	(UniProt - OMIM)
			NEB	(UniProt - OMIM)
			TPM2	(UniProt - OMIM)
			TPM3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11	(0.63)	NEB

Citations in the biomedical literature:

Metachondromatosis		Childhood-onset nemaline myopathy
	Synonym(s): (no synonyms)		Synonym(s): - Mild nemaline myopathy

	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 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: No 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
Childhood-onset nemaline myopathy
(no data available)