General Information of Disease (ID: DISE73OD)

Disease Name Hypotrichosis simplex of the scalp
Synonyms hereditary hypotrichosis simplex of the scalp
Definition Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.
Disease Hierarchy
DIS37HU4: Alopecia
DISE73OD: Hypotrichosis simplex of the scalp

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 Supportive Autosomal dominant [1]
KRT74 OT9MEIJ1 Supportive Autosomal dominant [2]
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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.