Details of Disease | DrugMAP

General Information of Disease (ID: DIST0X30)

Disease Name	Ectodermal dysplasia 9, hair/nail type
Synonyms	ECTD9; HOXC13 pure hair and nail ectodermal dysplasia; pure hair and nail ectodermal dysplasia caused by mutation in HOXC13; ectodermal dysplasia 9, hair/nail type
Definition	Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.
Disease Hierarchy	DIS83WTF: Pure hair and nail ectodermal dysplasia DIST0X30: Ectodermal dysplasia 9, hair/nail type
Disease Identifiers	MONDO ID MONDO_0013976 UMLS CUI C3554127 OMIM ID 614931 MedGen ID 767041

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
HOXC13	OT52AVNA	Definitive	Autosomal recessive	[1]
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References

1	A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family. Hum Mutat. 2013 Apr;34(4):578-81. doi: 10.1002/humu.22271. Epub 2013 Mar 5.