primary hypertrophic osteoarthropathy, autosomal recessive, type 2

primary hypertrophic osteoarthropathy, autosomal recessive, type 2

An autosomal recessive condition (OMIM:614441) characterised by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, pachydermia (e.G, of the facial skin and scalp), variably accompanied by delayed closure of the cranial sutures and congenital heart disease. 

Molecular pathology
Defects in SLCO2A1, which encodes a prostaglandin transporter, cause primary hypertrophic osteoarthropathy, autosomal recessive, type 2.
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