Details of Disease | DrugMAP

General Information of Disease (ID: DISDMZ4W)

Disease Name	Exostoses, multiple, type 2
Synonyms	Ext2; exostoses, multiple, type II; exostoses (Multiple) 2 Gene; EXT2 Gene; EXT2 exostoses, multiple; exostoses, multiple, type 2; exostoses, multiple caused by mutation in EXT2
Definition	This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.
Disease Hierarchy	DIS606GH: Refractory multiple myeloma DISDMZ4W: Exostoses, multiple, type 2
Disease Identifiers	MONDO ID MONDO_0007586 UMLS CUI C1851413 OMIM ID 133701 MedGen ID 377018

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EXT1	OTRPALJK	Strong	Biomarker	[1]
EXT2	OT8IR5QN	Definitive	Autosomal dominant	[2]
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References

1	Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.Hum Mol Genet. 2019 Jul 1;28(13):2133-2142. doi: 10.1093/hmg/ddz046.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.