Details of Disease

General Information of Disease (ID: DIS2FX7S)

Disease Name Hypotrichosis 8
Synonyms
woolly hair, autosomal recessive 1, with or without hypotrichosis; wooly hair, autosomal recessive 1, with or without hypotrichosis; hypotrichosis type 8; hypotrichosis 8; LPAR6 hypotrichosis; LAH3; hypotrichosis, localized, autosomal recessive 3; HYPT8; hypotrichosis caused by mutation in LPAR6
Definition Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.
Disease Hierarchy
DISSW933: Hypotrichosis
DISTWYN7: Isolated familial wooly hair disorder
DIS8WHDJ: Hypotrichosis simplex
DIS2FX7S: Hypotrichosis 8
Disease Identifiers
MONDO ID
MONDO_0010206
MESH ID
C566950
UMLS CUI
C3279470
OMIM ID
278150
MedGen ID
481100

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
LPAR6 TTZDAGB Strong Autosomal recessive [1]
LPAR6 TTZDAGB Strong Genetic Variation [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT25 OT4JMRN6 Strong CausalMutation [3]
LIPH OTRGYLKL Strong Genetic Variation [4]
LPAR6 OT4BY3W4 Strong Autosomal recessive [1]
RB1 OT9VMY7B Strong Genetic Variation [2]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.PLoS One. 2014 Aug 13;9(8):e104756. doi: 10.1371/journal.pone.0104756. eCollection 2014.
3 A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. J Med Genet. 2015 Oct;52(10):676-80. doi: 10.1136/jmedgenet-2015-103255. Epub 2015 Jul 9.
4 Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). Hum Genet. 2008 Jun;123(5):515-9. doi: 10.1007/s00439-008-0507-7. Epub 2008 May 7.