Details of Disease | DrugMAP

General Information of Disease (ID: DISYE5SW)

Disease Name	Marie Unna hereditary hypotrichosis
Synonyms	Marie Unna congenital hypotrichosis; HR hypotrichosis; hypotrichosis, Marie Unna type; hypotrichosis caused by mutation in HR; MUHH
Definition	A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.
Disease Hierarchy	DISSW933: Hypotrichosis DISYE5SW: Marie Unna hereditary hypotrichosis
Disease Identifiers	MONDO ID MONDO_0018631 MESH ID C535912 UMLS CUI C2931059 MedGen ID 419706 Orphanet ID 444 SNOMED CT ID 254234005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EPS8L3	OT7XYA2T	Supportive	Autosomal dominant	[1]
HR	OTHEZWPW	Supportive	Autosomal dominant	[2]
FABP12	OTZD0E3B	Strong	Genetic Variation	[3]
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References

1	Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. J Med Genet. 2012 Dec;49(12):727-30. doi: 10.1136/jmedgenet-2012-101134. Epub 2012 Oct 25.
2	Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet. 2009 Feb;41(2):228-33. doi: 10.1038/ng.276. Epub 2009 Jan 4.
3	Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family.J Dermatol. 2019 May;46(5):413-417. doi: 10.1111/1346-8138.14811. Epub 2019 Feb 27.