Details of Disease

General Information of Disease (ID: DISQO9V4)

Disease Name Primary hypertrophic osteoarthropathy
Synonyms
PHOAR1; hypertrophic osteoarthropathy, primary, autosomal recessive, 1; PHO; hypertrophic osteoarthropathy, primary; PDP; idiopathic hypertrophic osteoarthropathy; pachydermoperiostosis of nail; Touraine Solente Gole syndrome; Touraine-Solente-Gole syndrome; pachydermoperiostosis syndrome; hypertrophic osteoarthropathy, primary, autosomal recessive, type 1; hypertropic osteoarthropathy, primary; pachydermoperiostosis; pachydermoperiostosis of nail [ambiguous]
Definition
A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DISQO9V4: Primary hypertrophic osteoarthropathy
Disease Identifiers
MONDO ID
MONDO_0016620
MESH ID
D010004
UMLS CUI
C0029411
MedGen ID
18210
Orphanet ID
2796
SNOMED CT ID
223726008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CBR1 TTVG0SN Strong Genetic Variation [1]
SLCO2A1 TTKVTQO Strong Genetic Variation [2]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
HPGD DEHKSC6 Strong Genetic Variation [3]
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References

1 A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.Mod Rheumatol. 2015 Mar;25(2):315-21. doi: 10.3109/14397595.2013.874757. Epub 2014 Feb 18.
2 Novel SLCO2A1compound heterozygous mutation causing primary hypertrophic osteoarthropathy with Bartter-like hypokalemia in a Chinese family.J Endocrinol Invest. 2019 Oct;42(10):1245-1252. doi: 10.1007/s40618-019-01048-z. Epub 2019 Apr 19.
3 The first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation.Endocr Connect. 2019 Jun;8(6):736-744. doi: 10.1530/EC-19-0149.