MCID: WLL013
MIFTS: 12

Woolly Hair, Autosomal Recessive malady

Summaries for Woolly Hair, Autosomal Recessive

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64Wikipedia, 33MalaCards
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Wikipedia:64 Afro-textured hair is a term used to refer to the natural texture of Black African hair that has not... more...

MalaCards: Woolly Hair, Autosomal Recessive is related to woolly hair, autosomal recessive 2 with or without hypotrichosis and woolly hair, autosomal recessive 1, with or without hypotrichosis. An important gene associated with Woolly Hair, Autosomal Recessive is LPAR6 (lysophosphatidic acid receptor 6). Affiliated tissues include skin.

Aliases & Classifications for Woolly Hair, Autosomal Recessive

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Aliases & Descriptions:

woolly hair, autosomal recessive 20


Related Diseases for Woolly Hair, Autosomal Recessive

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17GeneCards, 18GeneDecks
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Diseases in the woolly hair, autosomal dominant family:

woolly hair, autosomal recessive woolly hair, autosomal recessive 2 with or without hypotrichosis
woolly hair, autosomal recessive 1, with or without hypotrichosis

Diseases related to Woolly Hair, Autosomal Recessive via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1woolly hair, autosomal recessive 2 with or without hypotrichosis10.4
2woolly hair, autosomal recessive 1, with or without hypotrichosis10.4
3hypotrichosis10.0LIPH, LPAR6

Clinical Features for Woolly Hair, Autosomal Recessive

Drugs & Therapeutics for Woolly Hair, Autosomal Recessive

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Woolly Hair, Autosomal Recessive

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20GeneTests
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Genetic tests related to Woolly Hair, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Woolly Hair, Autosomal Recessive20

Anatomical Context for Woolly Hair, Autosomal Recessive

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33MalaCards
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MalaCards organs/tissues related to Woolly Hair, Autosomal Recessive:

33
Skin

Animal Models for Woolly Hair, Autosomal Recessive or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Woolly Hair, Autosomal Recessive

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51PubMed
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Articles related to Woolly Hair, Autosomal Recessive:

(show all 16)
idTitleAuthorsYear
1
Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood. (22449147)
2013
2
A novel deletion mutation in the LPAR6 gene underlies autosomal recessive woolly hair with hypotrichosis. (23773027)
2013
3
The I^9 loop domain of PA-PLA1I+ has a crucial role in autosomal recessive woolly hair/hypotrichosis. (22475755)
2012
4
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. (23066499)
2012
5
Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair. (21352330)
2011
6
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. (21426374)
2011
7
Mutations in two genes on chromosome 13 resulting in a complex hair and skin phenotype due to two rare genodermatoses: KLICK and autosomal recessive woolly hair/hypotrichosis simplex. (21275938)
2011
8
Marie-Unna hereditary hypotrichosis or autosomal recessive hereditary hypotrichosis with woolly hair: the diagnostic dilemma of labeling cases with hypotrichosis. (22082473)
2011
9
A novel deletion mutation in P2RY5/LPA(6) gene cause autosomal recessive woolly hair with hypotrichosis. (20015179)
2010
10
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. (19892526)
2009
11
Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. (19262606)
2009
12
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. (18830268)
2009
13
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. (19365138)
2009
14
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. (19766349)
2009
15
Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene. (18803659)
2009
16
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. (18297072)
2008

Genetic Variations for Woolly Hair, Autosomal Recessive

Expression for genes affiliated with Woolly Hair, Autosomal Recessive

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Woolly Hair, Autosomal Recessive

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Pathways for genes affiliated with Woolly Hair, Autosomal Recessive

Compounds for genes affiliated with Woolly Hair, Autosomal Recessive

GO Terms for genes affiliated with Woolly Hair, Autosomal Recessive

Products for genes affiliated with Woolly Hair, Autosomal Recessive

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  • Proteins
  • Lysates
  • Antibodies

Sources for Woolly Hair, Autosomal Recessive

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet