Hypotrichosis 8; HYPT8

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

Targets

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

Ligands

No ligand related data available for Hypotrichosis 8; HYPT8

References

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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]