HPGD Chromosome 4
15-hydroxyprostaglandin dehydrogenase
Upload your DNA to see your personal genotypes for variants in HPGD.
What This Gene Does
This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
4q34.1
Ensembl
ENSG00000164120
Associated Conditions (7)
Hypertrophic osteoarthropathy
primary
autosomal recessive
1
Isolated congenital digital clubbing
HPGD-related disorder
Cranioosteoarthropathy
Key Variants
RS201828747
Conflicting classifications of pathogenicity
Hypertrophic osteoarthropathy, primary, autosomal recessive
Health Risk
RS2477966287
Conflicting classifications of pathogenicity
Hypertrophic osteoarthropathy, primary, autosomal recessive
Health Risk
RS374385011
Conflicting classifications of pathogenicity
Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary
Health Risk
RS750817164
Conflicting classifications of pathogenicity
Hypertrophic osteoarthropathy, primary, autosomal recessive
Health Risk
RS1164877128
Likely pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive
Health Risk
RS121434481
Likely pathogenic
Isolated congenital digital clubbing, Isolated congenital digital clubbing
Health Risk
RS375335006
Likely pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive
Health Risk
RS1166031576
Pathogenic
Health Risk
RS1191997234
Pathogenic
Health Risk
RS121434480
Pathogenic
Cranioosteoarthropathy, Hypertrophic osteoarthropathy, primary
Health Risk
RS1579268244
Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive
Health Risk
RS1735312842
Pathogenic
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201828747 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic osteoarthropathy, primary, autosomal recessive |
| RS2477966287 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic osteoarthropathy, primary, autosomal recessive |
| RS374385011 | Health Risk | Conflicting classifications of pathogenicity | Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary |
| RS750817164 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic osteoarthropathy, primary, autosomal recessive |
| RS1164877128 | Health Risk | Likely pathogenic | Hypertrophic osteoarthropathy, primary, autosomal recessive |
| RS121434481 | Health Risk | Likely pathogenic | Isolated congenital digital clubbing, Isolated congenital digital clubbing |
| RS375335006 | Health Risk | Likely pathogenic | Hypertrophic osteoarthropathy, primary, autosomal recessive |
| RS1166031576 | Health Risk | Pathogenic | — |
| RS1191997234 | Health Risk | Pathogenic | — |
| RS121434480 | Health Risk | Pathogenic | Cranioosteoarthropathy, Hypertrophic osteoarthropathy, primary |
| RS1579268244 | Health Risk | Pathogenic | Hypertrophic osteoarthropathy, primary, autosomal recessive |
| RS1735312842 | Health Risk | Pathogenic | — |
| RS1736201319 | Health Risk | Pathogenic | Hypertrophic osteoarthropathy, primary, autosomal recessive |
| RS2477840776 | Health Risk | Pathogenic | Hypertrophic osteoarthropathy, primary, autosomal recessive |
| RS2477896212 | Health Risk | Pathogenic | — |
| RS548208942 | Health Risk | Pathogenic | Hypertrophic osteoarthropathy, primary, autosomal recessive |
| RS577045722 | Health Risk | Pathogenic | Hypertrophic osteoarthropathy, primary, autosomal recessive |
| RS587776676 | Health Risk | Pathogenic | Hypertrophic osteoarthropathy, primary, autosomal recessive |
| RS587777719 | Health Risk | Pathogenic | Hypertrophic osteoarthropathy, primary, autosomal recessive |
| RS747458590 | Health Risk | Pathogenic | — |
| RS751774080 | Health Risk | Pathogenic | Hypertrophic osteoarthropathy, primary, autosomal recessive |
| RS769423339 | Health Risk | Pathogenic | Hypertrophic osteoarthropathy, primary, autosomal recessive |