Details of Disease | DrugMAP

General Information of Disease (ID: DISYWD0J)

Disease Name	Wooly hair, autosomal recessive 3
Synonyms	wooly hair, autosomal recessive 3, with hypotrichosis; woolly hair, autosomal recessive 3, with hypotrichosis; wooly hair (disease) caused by mutation in KRT25; woolly hair, autosomal recessive type 3; wooly hair, autosomal recessive 3; wooly hair, autosomal recessive type 3; KRT25 wooly hair (disease); ARWH3; woolly hair (disease) caused by mutation in KRT25; KRT25 woolly hair (disease)
Definition	Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene.
Disease Hierarchy	DISYKSRF: Genetic disease DISTWYN7: Isolated familial wooly hair disorder DISYWD0J: Wooly hair, autosomal recessive 3
Disease Identifiers	MONDO ID MONDO_0014765 UMLS CUI C4225214 OMIM ID 616760 MedGen ID 902275

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
KRT25	OT4JMRN6	Strong	Autosomal recessive	[1]
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References

1	Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament. Genomics. 2007 Dec;90(6):703-11. doi: 10.1016/j.ygeno.2007.07.013. Epub 2007 Oct 24.