Details of Disease

General Information of Disease (ID: DIS1A1ZQ)

Disease Name Hypotrichosis 6
Synonyms
Htl; hypotrichosis, localized, autosomal recessive; hypotrichosis 6; hypotrichosis type 6; HYPT6; autosomal recessive localized hypotrichosis; monilethrix-like hypotrichosis; hypotrichosis caused by mutation in DSG4; autosomal recessive localised hypotrichosis; hypotrichosis, localized, autosomal recessive 1; DSG4 hypotrichosis; Lah1
Definition Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.
Disease Hierarchy
DISSW933: Hypotrichosis
DIS8WHDJ: Hypotrichosis simplex
DIS1A1ZQ: Hypotrichosis 6
Disease Identifiers
MONDO ID
MONDO_0011932
MESH ID
C564312
UMLS CUI
C1842839
OMIM ID
607903
MedGen ID
335812

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
DSG4 OTWIQDC4 Strong Autosomal recessive [1]
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References

1 Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. J Invest Dermatol. 2006 Jun;126(6):1281-5. doi: 10.1038/sj.jid.5700113.