Details of Disease | DrugMAP

General Information of Disease (ID: DIS1JN13)

Disease Name	Hypotrichosis 2
Synonyms	hypotrichosis, Spanish type; Htss; HYPT2; hypotrichosis 2; hypotrichosis simplex of the scalp 1; hypotrichosis type 2; CDSN hypotrichosis; hypt2; Spanish type hypotrichosis; hypotrichosis caused by mutation in CDSN
Definition	Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene.
Disease Hierarchy	DISSW933: Hypotrichosis DISE73OD: Hypotrichosis simplex of the scalp DIS1JN13: Hypotrichosis 2
Disease Identifiers	MONDO ID MONDO_0007805 MESH ID C564143 UMLS CUI C1840299 OMIM ID 146520 MedGen ID 374435 SNOMED CT ID 717256009

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
CDSN	OTQW4HV6	Strong	Autosomal dominant	[1]
KRT74	OT9MEIJ1	Strong	GermlineCausalMutation	[2]
------------------------------------------------------------------------------------

References

1	Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet. 2003 Jun;34(2):151-3. doi: 10.1038/ng1163.
2	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.