Hypertrophic osteoarthropathy, primary, autosomal recessive, 1

Preferred Label : Hypertrophic osteoarthropathy, primary, autosomal recessive, 1;

Symbol : PHOAR1;

CISMeF acronym : CIO; COA; PHOAR1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pho, autosomal recessive; Pachydermoperiostosis, autosomal recessive; Pdp, autosomal recessive; Touraine-solente-gole syndrome;

Included titles and symbols : Cranioosteoarthropathy; Familial idiopathic osteoarthropathy of childhood; Currarino idiopathic osteoarthropathy; COA; CIO;

Description : Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osterarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008). Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. - Genetic Heterogeneity;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 15-alpha-hydroxyprostaglandin dehydrogenase gene (HPGD, 601688.0001).;

Laboratory abnormalities : Increased urinary prostaglandin E2;

Prefixed ID : #259100;

Details

Origin ID

259100;

UMLS CUI

C4551679;

Automatic exact mappings (from CISMeF team)
- 12-(4'-azido-2'-nitrophenoxy)dodecanoyl-coenzyme A [MeSH Supplementary Concept]
- Clinical Outcome Assessment [NCIt concept]
- Cranio-osteoarthropathy [ORDO Disease]
- Cranio-osteoarthropathy [ICD-11 More detail]
- Cranioosteoarthropathy (disorder) [SNOMED CT concept]
- HPGD wt Allele [NCIt concept]
- Opioid-Induced Constipation [MeSH Descriptor]
- Pachydermoperiostosis [ICD-11 More detail]
- coenzyme A [MeSH Descriptor]
- cranioosteoarthropathy [MeSH concept]
Currated CISMeF NLP mapping
- Pachydermoperiostosis [ORDO Disease]
- Pachydermoperiostosis syndrome (disorder) [SNOMED CT concept]
- Primary Hypertrophic Osteoarthropathy [NCIt concept]
- Primary Hypertrophic Osteoarthropathy, Autosomal Recessive Type 1 [NCIt concept]
- Primary hypertrophic osteoarthropathy [ORDO Disease]
- hypertrophic osteoarthropathy primary autosomal recessive 1 [Disease (Nov.)]
- osteoarthropathy, primary hypertrophic [MeSH Descriptor]
DO Cross reference
- primary hypertrophic osteoarthropathy [DO Concept]
Genes related to phenotype
- 15-hydroxyprostaglandin dehydrogenase [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Arthropathy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clubbing [HPO term]
- Coarse facial features [HPO term]
- Congenital onset [HPO term]
- Disproportionate tall stature [HPO term]
- Eczematoid dermatitis [HPO term]
- Erythema [HPO term]
- Flushing [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperhidrosis [HPO term]
- Large fontanelles [HPO term]
- Limitation of joint mobility [HPO term]
- Long clavicles [HPO term]
- Osteolytic defects of the phalanges of the hand [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus excavatum [HPO term]
- Ptosis [HPO term]
- Redundant skin [HPO term]
- Seborrheic dermatitis [HPO term]
- Thickened calvaria [HPO term]
- Wormian bones [HPO term]
Narrower ORDO disease(s)
- Cranio-osteoarthropathy [ORDO Disease]
ORDO concept(s)
- Cranio-osteoarthropathy [ORDO Disease]
- Pachydermoperiostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Clubbed nail pachydermoperiostosis [ICD-10 Sub-category (who)]
- Pachydermoperiostosis [MedDRA Preferred Term]
- Pachydermoperiostosis [ORDO Disease]
- Pachydermoperiostosis of nail (disorder) [SNOMED CT concept]
- Pachydermoperiostosis syndrome (disorder) [SNOMED CT concept]
- Primary Hypertrophic Osteoarthropathy [NCIt concept]
- Primary Hypertrophic Osteoarthropathy, Autosomal Recessive Type 1 [NCIt concept]
- Primary hypertrophic osteoarthropathy [ORDO Disease]
- hypertrophic osteoarthropathy primary autosomal recessive 1 [Disease (Nov.)]
- osteoarthropathy, primary hypertrophic [MeSH Descriptor]
- osteoarthropathy, primary hypertrophic [MeSH concept]
- pachydermoperiostosis syndrome [SNOMED Notion]
- primary hypertrophic osteoarthropathy [DO Concept]
- primary hypertrophic osteoarthropathy [Disease (Nov.)]
Validated automatic mappings to NTBT
- primary hypertrophic osteoarthropathy [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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