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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 479 | |
Name: | Hypotrichosis 8; HYPT8 | |
Associated with: | 1 target |
Synonyms |
Hypotrichosis | Hypotrichosis simplex | Woolly hair |
Database Links |
Disease Ontology:
DOID:4535 OMIM: 278150 Orphanet: ORPHA55654, ORPHA170 |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖LPA6 receptor | |
Role: | LPA6/p2y5 is an LPA receptor essential for human hair growth |
Comments: | Hypotrichosis, localised, autosomal recessive 3; LAH3,however a case of congenital woolly with no associated P2RY5 mutation has also been reported. |
References: | 3,5-7,9 |
Mutations: | LPA6 receptor is associated with 11 mutation. Click here for details ![]() |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Hypotrichosis 8; HYPT8
1. Azeem Z, Jelani M, Naz G, Tariq M, Wasif N, Kamran-Ul-Hassan Naqvi S, Ayub M, Yasinzai M, Amin-Ud-Din M, Wali A et al.. (2008) Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). Hum Genet, 123 (5): 515-9. [PMID:18461368]
2. Azhar A, Tariq M, Baig SM, Dahl N, Klar J. (2012) A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect. Eur J Dermatol, 22 (4): 464-6. [PMID:22531990]
3. Horev L, Saad-Edin B, Ingber A, Zlotogorski A. (2010) A novel deletion mutation in P2RY5/LPA(6) gene cause autosomal recessive woolly hair with hypotrichosis. J Eur Acad Dermatol Venereol, 24 (7): 858-9. [PMID:20015179]
4. Mahmoudi H, Tug E, Parlak AH, Atasoy HI, Ludwig M, Polat M, Pasternack SM, Betz RC. (2012) Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair. Exp Dermatol, 21 (6): 469-71. [PMID:22621192]
5. Nakamura M, Tokura Y. (2009) Congenital woolly hair without P2RY5 mutation. Dermatoendocrinol, 1 (1): 58-9. [PMID:20046591]
6. Pasternack SM, Murugusundram S, Eigelshoven S, Müller M, Kruse R, Lehmann P, Betz RC. (2009) Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair. Arch Dermatol Res, 301 (8): 621-4. [PMID:19529952]
7. Pasternack SM, von Kügelgen I, Aboud KA, Lee YA, Rüschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nürnberg P, Nöthen MM, Betz RC. (2008) G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet, 40 (3): 329-34. [PMID:18297070]
8. Petukhova L, Sousa Jr EC, Martinez-Mir A, Vitebsky A, Dos Santos LG, Shapiro L, Haynes C, Gordon D, Shimomura Y, Christiano AM. (2008) Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. Genomics, 92 (5): 273-8. [PMID:18692127]
9. Shimomura Y, Garzon MC, Kristal L, Shapiro L, Christiano AM. (2009) Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene. Exp Dermatol, 18 (3): 218-21. [PMID:18803659]
10. Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM. (2008) Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nat Genet, 40 (3): 335-9. [PMID:18297072]
11. Tariq M, Ayub M, Jelani M, Basit S, Naz G, Wasif N, Raza SI, Naveed AK, ullah Khan S, Azeem Z et al.. (2009) Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. Br J Dermatol, 160 (5): 1006-10. [PMID:19292720]