Details of Disease | DrugMAP

General Information of Disease (ID: DIS4HZSS)

Disease Name	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
Synonyms	PDP, autosomal recessive; Pho, autosomal recessive; PHOAR1; Touraine-Solente-Gole syndrome; Cranioosteoarthropathy; familial idiopathic osteoarthropathy of childhood; Currarino idiopathic osteoarthropathy; pachydermoperiostosis, autosomal recessive; primary hypertrophic osteoarthropathy caused by mutation in HPGD; hypertrophic osteoarthropathy, primary, autosomal recessive 1; hypertrophic osteoarthropathy, primary, autosomal recessive, 1; HPGD primary hypertrophic osteoarthropathy
Definition	Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.
Disease Hierarchy	DISQO9V4: Primary hypertrophic osteoarthropathy DIS4HZSS: Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
Disease Identifiers	MONDO ID MONDO_0024546 UMLS CUI C4551679 OMIM ID 259100 MedGen ID 1641972

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

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 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HPGD	DEHKSC6	Limited	Genetic Variation	[2]
HPGD	DEHKSC6	Definitive	Autosomal recessive	[3]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HPGD	OTYZI6JB	Definitive	Autosomal recessive	[3]
------------------------------------------------------------------------------------

References

1	Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study.Bone. 2018 Jan;106:96-102. doi: 10.1016/j.bone.2017.09.015. Epub 2017 Sep 28.
2	Clinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention.J Bone Miner Res. 2017 Aug;32(8):1659-1666. doi: 10.1002/jbmr.3157. Epub 2017 Jun 2.
3	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.