Details of Disease | DrugMAP

General Information of Disease (ID: DISF6DEA)

Disease Name	Exostoses, multiple, type 1
Synonyms	multiple osteochondromas; osteochondromatosis; EXT; diaphyseal Aclasis; exostoses, multiple, type I; multiple cartilaginous exostoses; exostoses, multiple caused by mutation in EXT1; exostoses, multiple, type 1; EXT1 exostoses, multiple
Definition	Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.
Disease Hierarchy	DIS606GH: Refractory multiple myeloma DISF6DEA: Exostoses, multiple, type 1

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EXT1	OTRPALJK	Definitive	Autosomal dominant	[1]
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References

1	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.