Phoar2-enteropathy syndrome

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;

Détails

Origin ID

614441;

UMLS CUI

C3280800;

Automatic exact mappings (from CISMeF team)
- Pachydermoperiostosis [ORDO Disease]
- Primary hypertrophic osteoarthropathy [ORDO Disease]
- osteoarthropathy, primary hypertrophic [MeSH Descriptor]
Currated CISMeF NLP mapping
- hypertrophic osteoarthropathy primary autosomal recessive 2 [Disease (Nov.)]
Genes related to phenotype
- Solute carrier organic anion transporter family, member 2a1 [OMIM gene]
HPO term(s)
- Acne [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clubbing [HPO term]
- Hyperhidrosis [HPO term]
- Hyperostosis [HPO term]
- Hypoalbuminemia [HPO term]
- Juvenile onset [HPO term]
- Knee pain [HPO term]
- Periostosis [HPO term]
- Seborrheic dermatitis [HPO term]
- Secretory diarrhea [HPO term]
- Thickened skin [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Pachydermoperiostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypertrophic osteoarthropathy primary autosomal recessive 2 [Disease (Nov.)]
Validated automatic mappings to NTBT
- primary hypertrophic osteoarthropathy [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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