Details of Disease | DrugMAP

General Information of Disease (ID: DISUM6CO)

Disease Name	Metachondromatosis
Synonyms	METACHONDROMATOSIS; METCDS; metachondromatosis
Definition	Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.
Disease Hierarchy	DISYKSRF: Genetic disease DISE1F82: Bone disease DISUM6CO: Metachondromatosis
Disease Identifiers	MONDO ID MONDO_0007979 MESH ID C562938 UMLS CUI C0410530 OMIM ID 156250 MedGen ID 98377 Orphanet ID 2499 SNOMED CT ID 205481009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PTPN11	TT7WUAV	Strong	Autosomal dominant	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EXT2	OT8IR5QN	Strong	Biomarker	[2]
IHH	OT1DWGXC	Strong	Altered Expression	[3]
PTPN11	OTFH9M73	Strong	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.Skeletal Radiol. 2012 May;41(5):607-10. doi: 10.1007/s00256-011-1261-9. Epub 2011 Sep 4.
3	EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis.J Pathol. 2006 Jul;209(3):411-9. doi: 10.1002/path.1985.