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HPGD

Synonyms
15-PGDH, PGDH, PGDH1, PHOAR1, SDR36C1
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
20
Likely pathogenic
3
VUS
824
Likely benign
2,044
Benign
0

Patient phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on HPGD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
56.5%
Abnormality of head or neck
30.4%
Abnormality of the musculoskeletal system
26.1%
Abnormality of the ear
17.4%
Abnormality of the eye
17.4%
Abnormality of the cardiovascular system
13%
Abnormality of the genitourinary system
13%
Growth abnormality
13%
Abnormality of the endocrine system
8.7%
Abnormality of the integument
8.7%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of limbs
4.3%
Abnormality of prenatal development or birth
4.3%
Abnormality of the digestive system
4.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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