Trait
Hyperkeratotic papule
A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).
Summary
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Hyperkeratotic papule, and the rest of your genome, with one test.
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Get my Genome Test17 genes linked to Hyperkeratotic papule
Changes in these genes cause rare conditions in which Hyperkeratotic papule is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Always | In 1 condition |
| KRT1keratin 1 | Always | In 1 condition |
| AAGABalpha and gamma adaptin binding protein | Very often (80–99%) | In 1 condition |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Very often (80–99%) | In 1 condition |
| CCDC91coiled-coil domain containing 91 | Very often (80–99%) | In 1 condition |
| COL14A1collagen type XIV alpha 1 chain | Very often (80–99%) | In 1 condition |
| KRT14keratin 14 | Often (30–79%) | In 1 condition |
| KRT5keratin 5 | Often (30–79%) | In 2 conditions |
| LRP1LDL receptor related protein 1 | Often (30–79%) | In 2 conditions |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Often (30–79%) | In 1 condition |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Often (30–79%) | In 1 condition |
| COL7A1collagen type VII alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| GJB2gap junction protein beta 2 | Sometimes (5–29%) | In 1 condition |
| GJB6gap junction protein beta 6 | Sometimes (5–29%) | In 1 condition |
| POFUT1protein O-fucosyltransferase 1 | Sometimes (5–29%) | In 2 conditions |
| POGLUT1protein O-glucosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| PSENENpresenilin enhancer, gamma-secretase subunit | Sometimes (5–29%) | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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