Details of Disease

General Information of Disease (ID: DISMD9UB)

Disease Name Hereditary hypotrichosis with recurrent skin vesicles
Synonyms hypotrichosis and recurrent skin vesicles; hereditary hypotrichosis with recurrent skin vesicles
Definition
Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.
Disease Hierarchy
DIS37HU4: Alopecia
DISMD9UB: Hereditary hypotrichosis with recurrent skin vesicles
Disease Identifiers
MONDO ID
MONDO_0013136
MESH ID
C567751
UMLS CUI
C2751292
OMIM ID
613102
MedGen ID
442697
Orphanet ID
217407
SNOMED CT ID
724350009

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
DSC2 OTODVH8K Strong Genetic Variation [1]
DSC3 OTYG47F8 Strong Autosomal recessive [1]
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References

1 A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am J Hum Genet. 2009 Oct;85(4):515-20. doi: 10.1016/j.ajhg.2009.08.015. Epub 2009 Sep 17.