Details of Disease | DrugMAP

General Information of Disease (ID: DISDFBQ5)

Disease Name	Hypotrichosis 7
Synonyms	hypotrichosis, total, Mari type; wooly hair, autosomal recessive 2, with or without hypotrichosis; Mari type alopecia universalis congenita; hypotrichosis, autosomal recessive; alopecia universalis congenita, Mari type; woolly hair, autosomal recessive 2, with or without hypotrichosis; Wh/Ht; total hypotrichosis, Mari type; HYPT7; total Mari type hypotrichosis,; hypotrichosis caused by mutation in LIPH; hypotrichosis 7; woolly hair, autosomal recessive 2 with or without hypotrichosis; hypotrichosis, localized, autosomal recessive 2; hypotrichosis type 7; wooly hair, autosomal recessive 2 with or without hypotrichosis; LIPH hypotrichosis; Lah2
Definition	Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene.
Disease Hierarchy	DISSW933: Hypotrichosis DISTWYN7: Isolated familial wooly hair disorder DIS8WHDJ: Hypotrichosis simplex DISDFBQ5: Hypotrichosis 7
Disease Identifiers	MONDO ID MONDO_0011452 MESH ID C536973 UMLS CUI C1836672 OMIM ID 604379 MedGen ID 322969

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYSLTR2	TT0PZR5	Strong	Biomarker	[1]
LPAR6	TTZDAGB	Strong	Genetic Variation	[2]
PTGER2	TT1ZAVI	Strong	Altered Expression	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CST6	OTZVHJTF	Strong	Biomarker	[3]
LIPH	OTRGYLKL	Strong	Autosomal recessive	[4]
SPAG11A	OTNQ9UB0	Strong	Altered Expression	[1]
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References

1	Expression of arachidonate metabolism enzymes and receptors in nasal polyps of aspirin-hypersensitive asthmatics.Int Arch Allergy Immunol. 2012;157(4):354-62. doi: 10.1159/000329744. Epub 2011 Nov 24.
2	A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect.Eur J Dermatol. 2012 Jul-Aug;22(4):464-6. doi: 10.1684/ejd.2012.1731.
3	Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. Genet Med. 2019 Jul;21(7):1559-1567. doi: 10.1038/s41436-018-0355-3. Epub 2018 Nov 14.
4	A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. Hum Genet. 2007 May;121(3-4):319-25. doi: 10.1007/s00439-007-0344-0. Epub 2007 Feb 27.