Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2)

Stable Identifier
R-HSA-5619095
Type
Pathway
Species
Homo sapiens
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The human gene SLCO2A1 encodes prostaglandin transporter PGT. It is ubiquitously expressed and can transport the protaglandins PGD2, PGE1, PGE2 and PGF2A. This transport may be important for release of newly-formed prostaglandins (PGs) and/or their clearance of prostaglandins from the circulation. Defects in SLCO2A1 can cause hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2; MIM:614441), a rare genodermatosis characterised by pachydermia, digital clubbing, periostosis and affecting more males than females (Castori et al. 2005, Seifert et al. 2012, Diggle et al. 2012, Madruga Dias et al. 2014).

Literature References
PubMed ID Title Journal Year
22553128 Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Diggle, CP, Parry, DA, Logan, CV, Laissue, P, Rivera, C, Restrepo, CM, Fonseca, DJ, Morgan, JE, Allanore, Y, Fontenay, M, Wipff, J, Varret, M, Gibault, L, Dalantaeva, N, Korbonits, M, Zhou, B, Yuan, G, Harifi, G, Cefle, K, Palanduz, S, Akoglu, H, Zwijnenburg, PJ, Lichtenbelt, KD, Aubry-Rozier, B, Superti-Furga, A, Dallapiccola, B, Accadia, M, Brancati, F, Sheridan, EG, Taylor, GR, Carr, IM, Johnson, CA, Markham, AF, Bonthron, DT

Hum. Mutat. 2012
24012041 Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation-case report and review of literature

Madruga Dias, JA, Rosa, RS, Perpétuo, I, Rodrigues, AM, Janeiro, A, Costa, MM, Gaião, L, Pereira da Silva, JA, Fonseca, JE, Miltenberger-Miltenyi, G

Semin. Arthritis Rheum. 2014
22331663 Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing

Seifert, W, Kühnisch, J, Tüysüz, B, Specker, C, Brouwers, A, Horn, D

Hum. Mutat. 2012
16283874 Pachydermoperiostosis: an update

Castori, M, Sinibaldi, L, Mingarelli, R, Lachman, RS, Rimoin, DL, Dallapiccola, B

Clin. Genet. 2005
Participants
Participant Of
Disease
Name Identifier Synonyms
primary hypertrophic osteoarthropathy 14283 Pachydermoperiostosis of nail [Ambiguous], Pachydermoperiostosis of nail (disorder), Pachydermoperiostosis of nail, Pachydermoperiostosis syndrome (disorder)
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