Details of Disease

General Information of Disease (ID: DISIGR8N)

• Disease Name: Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
• Synonyms: PDP, autosomal recessive; PHOAR2; pachydermoperiostosis, autosomal recessive; primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1; SLCO2A1 primary hypertrophic osteoarthropathy; hypertrophic osteoarthropathy, primary, autosomal recessive 2; hypertrophic osteoarthropathy, primary, autosomal recessive, type 2; hypertrophic osteoarthropathy, primary, autosomal recessive, 2
• Definition: Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.
• Disease Hierarchy:
  DISQO9V4: Primary hypertrophic osteoarthropathy
  DISIGR8N: Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
• Disease Identifiers:
  MONDO ID: MONDO_0013756
  UMLS CUI: C3280800
  OMIM ID: 614441
  MedGen ID: 482430

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLCO2A1	TTKVTQO	Strong	Biomarker	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLCO2A1	DT021JD	Definitive	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLCO2A1	OT3062CA	Definitive	Autosomal recessive	[2]

References

• [1] 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.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.