Details of Disease | DrugMAP

General Information of Disease (ID: DISYT8C5)

Disease Name	Hypotrichosis 3
Synonyms	HYPT3; Htss2; hypotrichosis simplex of the scalp 2; hypotrichosis 3; hypt3; hypotrichosis caused by mutation in KRT74; hypotrichosis type 3; KRT74 hypotrichosis
Definition	Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.
Disease Hierarchy	DISSW933: Hypotrichosis DISE73OD: Hypotrichosis simplex of the scalp DISYT8C5: Hypotrichosis 3
Disease Identifiers	MONDO ID MONDO_0013514 UMLS CUI C3151432 OMIM ID 613981 MedGen ID 462782

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
KRT74	OT9MEIJ1	Strong	Autosomal dominant	[1]
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References

1	Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. Hum Genet. 2011 Apr;129(4):419-24. doi: 10.1007/s00439-010-0938-9. Epub 2010 Dec 28.