" /> Phoar2-enteropathy syndrome - CISMeF





Preferred Label : Phoar2-enteropathy syndrome;

Symbol : PHOAR2E;

CISMeF acronym : PHOAR2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pdp, autosomal recessive; Pachydermoperiostosis, autosomal recessive; Hypertrophic osteoarthropathy, primary, autosomal recessive, 2/enteropathy syndrome; PHOAR2; Hypertrophic osteoarthropathy, primary, autosomal recessive, 2;

Description : Primary hypertrophic osteoarthropathy (PHO), which is also known as pachydermoperiostosis, is a rare genetic disease that affects the skin and bones. PHO is characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and skin manifestations that include thickened facial skin, a thickened scalp, and coarse facial features (summary by Zhang et al., 2012). For a discussion of genetic heterogeneity of PHO, see PHOAR1 (259100).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier organic anion transporter family, member 2A1 gene (SLCO2A1, 601460.0001);

Laboratory abnormalities : Elevated urinary PGE(2) levels; Relatively low urinary PGE-M levels;

Prefixed ID : #614441;

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05/05/2025


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