Trait
Hyperkeratosis
Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.
Summary
- Also called
- Epidermal hyperkeratosis
- 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 Hyperkeratosis, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test148 genes linked to Hyperkeratosis
Changes in these genes cause rare conditions in which Hyperkeratosis 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 |
|---|---|---|
| ADAM10ADAM metallopeptidase domain 10 | Always | In 1 condition |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Always | In 2 conditions |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Always | In 3 conditions |
| CASTcalpastatin | Always | In 1 condition |
| CERS3ceramide synthase 3 | Always | In 1 condition |
| DCLRE1CDNA cross-link repair 1C | Always | In 1 condition |
| DSPdesmoplakin | Always | In 1 condition |
| ELOVL1ELOVL fatty acid elongase 1 | Always | In 1 condition |
| EXPH5exophilin 5 | Always | In 1 condition |
| GJA1gap junction protein alpha 1 | Always | In 3 conditions |
| GJB2gap junction protein beta 2 | Always | In 4 conditions |
| GLSglutaminase | Always | In 1 condition |
| IL1RNinterleukin 1 receptor antagonist | Always | In 1 condition |
| JUPjunction plakoglobin | Always | In 1 condition |
| KDSR3-ketodihydrosphingosine reductase | Always | In 2 conditions |
| KRT10keratin 10 | Always | In 3 conditions |
| KRT83keratin 83 | Always | In 1 condition |
| LIPNlipase family member N | Always | In 2 conditions |
| LORICRINloricrin cornified envelope precursor protein | Always | In 2 conditions |
| MAD1L1mitotic arrest deficient 1 like 1 | Always | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Always | In 3 conditions |
| NDC1NDC1 transmembrane nucleoporin | Always | In 1 condition |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Always | In 2 conditions |
| OSBPL2oxysterol binding protein like 2 | Always | In 1 condition |
| PERPp53 apoptosis effector related to PMP22 | Always | In 1 condition |
| PPOXprotoporphyrinogen oxidase | Always | In 1 condition |
| RAG1recombination activating 1 | Always | In 1 condition |
| RAG2recombination activating 2 | Always | In 1 condition |
| RIGIRNA sensor RIG-I | Always | In 1 condition |
| SPINK5serine peptidase inhibitor Kazal type 5 | Always | In 2 conditions |
| SULT2B1sulfotransferase family 2B member 1 | Always | In 2 conditions |
| TRPS1transcriptional repressor GATA binding 1 | Always | In 1 condition |
| VEGFCvascular endothelial growth factor C | Always | In 1 condition |
| WNT10AWnt family member 10A | Always | In 1 condition |
| ABCA12ATP binding cassette subfamily A member 12 | Very often (80–99%) | In 2 conditions |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Very often (80–99%) | In 1 condition |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Very often (80–99%) | In 2 conditions |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Very often (80–99%) | In 3 conditions |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Very often (80–99%) | In 1 condition |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Very often (80–99%) | In 1 condition |
Show 108 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ASPRV1aspartic peptidase retroviral like 1 | Very often (80–99%) | In 2 conditions |
| ATP2C1ATPase secretory pathway Ca2+ transporting 1 | Very often (80–99%) | In 1 condition |
| CLEC7AC-type lectin domain containing 7A | Very often (80–99%) | In 1 condition |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Very often (80–99%) | In 1 condition |
| FLGfilaggrin | Very often (80–99%) | In 1 condition |
| GJB3gap junction protein beta 3 | Very often (80–99%) | In 1 condition |
| GJB4gap junction protein beta 4 | Very often (80–99%) | In 1 condition |
| GLAgalactosidase alpha | Very often (80–99%) | In 1 condition |
| HLA-Bmajor histocompatibility complex, class I, B | Very often (80–99%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| IL17Finterleukin 17F | Very often (80–99%) | In 1 condition |
| IL17RAinterleukin 17 receptor A | Very often (80–99%) | In 1 condition |
| IL17RCinterleukin 17 receptor C | Very often (80–99%) | In 1 condition |
| INSRinsulin receptor | Very often (80–99%) | In 3 conditions |
| KRT1keratin 1 | Very often (80–99%) | In 3 conditions |
| KRT14keratin 14 | Very often (80–99%) | In 2 conditions |
| KRT16keratin 16 | Very often (80–99%) | In 1 condition |
| KRT5keratin 5 | Very often (80–99%) | In 3 conditions |
| KRT9keratin 9 | Very often (80–99%) | In 1 condition |
| LMNAlamin A/C | Very often (80–99%) | In 2 conditions |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Very often (80–99%) | In 1 condition |
| MVKmevalonate kinase | Very often (80–99%) | In 1 condition |
| NAGAalpha-N-acetylgalactosaminidase | Very often (80–99%) | In 3 conditions |
| NEU1neuraminidase 1 | Very often (80–99%) | In 1 condition |
| NIPAL4NIPA like domain containing 4 | Very often (80–99%) | In 2 conditions |
| PEPDpeptidase D | Very often (80–99%) | In 1 condition |
| PMVKphosphomevalonate kinase | Very often (80–99%) | In 1 condition |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Very often (80–99%) | In 2 conditions |
| STSsteroid sulfatase | Very often (80–99%) | In 2 conditions |
| TATtyrosine aminotransferase | Very often (80–99%) | In 1 condition |
| TGM1transglutaminase 1 | Very often (80–99%) | In 1 condition |
| TP63tumor protein p63 | Very often (80–99%) | In 2 conditions |
| TRAF3IP2TRAF3 interacting protein 2 | Very often (80–99%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Very often (80–99%) | In 2 conditions |
| ANAPC1anaphase promoting complex subunit 1 | Often (30–79%) | In 1 condition |
| ATL1atlastin GTPase 1 | Often (30–79%) | In 1 condition |
| ATL3atlastin GTPase 3 | Often (30–79%) | In 2 conditions |
| CDSNcorneodesmosin | Often (30–79%) | In 1 condition |
| COG6component of oligomeric golgi complex 6 | Often (30–79%) | In 1 condition |
| DDB2damage specific DNA binding protein 2 | Often (30–79%) | In 1 condition |
| ECM1extracellular matrix protein 1 | Often (30–79%) | In 2 conditions |
| ELOVL4ELOVL fatty acid elongase 4 | Often (30–79%) | In 2 conditions |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Often (30–79%) | In 2 conditions |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Often (30–79%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Often (30–79%) | In 1 condition |
| ERCC5ERCC excision repair 5, endonuclease | Often (30–79%) | In 1 condition |
| FLT4fms related receptor tyrosine kinase 4 | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 2 conditions |
| KRT74keratin 74 | Often (30–79%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Often (30–79%) | In 2 conditions |
| MAP2K2mitogen-activated protein kinase kinase 2 | Often (30–79%) | In 2 conditions |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Often (30–79%) | In 3 conditions |
| POFUT1protein O-fucosyltransferase 1 | Often (30–79%) | In 1 condition |
| POGLUT1protein O-glucosyltransferase 1 | Often (30–79%) | In 1 condition |
| PSENENpresenilin enhancer, gamma-secretase subunit | Often (30–79%) | In 1 condition |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Often (30–79%) | In 1 condition |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Often (30–79%) | In 1 condition |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Often (30–79%) | In 1 condition |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Often (30–79%) | In 1 condition |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Often (30–79%) | In 1 condition |
| VPS33BVPS33B late endosome and lysosome associated | Often (30–79%) | In 1 condition |
| WRNWRN RecQ like helicase | Often (30–79%) | In 1 condition |
| XPAXPA, DNA damage recognition and repair factor | Often (30–79%) | In 1 condition |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Often (30–79%) | In 1 condition |
| AHSGalpha 2-HS glycoprotein | Sometimes (5–29%) | In 1 condition |
| CD28CD28 molecule | Sometimes (5–29%) | In 1 condition |
| CDH3cadherin 3 | Sometimes (5–29%) | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL6A1collagen type VI alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL6A2collagen type VI alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| COL6A3collagen type VI alpha 3 chain | Sometimes (5–29%) | In 1 condition |
| COL7A1collagen type VII alpha 1 chain | Sometimes (5–29%) | In 2 conditions |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Sometimes (5–29%) | In 1 condition |
| DIP2BDIP2 acetate--CoA ligase B (putative) | Sometimes (5–29%) | In 1 condition |
| DKC1dyskerin pseudouridine synthase 1 | Sometimes (5–29%) | In 1 condition |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Sometimes (5–29%) | In 1 condition |
| DOLKdolichol kinase | Sometimes (5–29%) | In 1 condition |
| ELMO2engulfment and cell motility 2 | Sometimes (5–29%) | In 1 condition |
| ERMARDER membrane associated RNA degradation | Sometimes (5–29%) | In 1 condition |
| FERMT1FERM domain containing kindlin 1 | Sometimes (5–29%) | In 1 condition |
| GMPPAGDP-mannose pyrophosphorylase A | Sometimes (5–29%) | In 1 condition |
| HDAC6histone deacetylase 6 | Sometimes (5–29%) | In 1 condition |
| ITGB6integrin subunit beta 6 | Sometimes (5–29%) | In 1 condition |
| LSSlanosterol synthase | Sometimes (5–29%) | In 1 condition |
| MDFICMyoD family inhibitor domain containing | Sometimes (5–29%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Sometimes (5–29%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sometimes (5–29%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Sometimes (5–29%) | In 1 condition |
| TNFRSF1BTNF receptor superfamily member 1B | Sometimes (5–29%) | In 1 condition |
| TYRtyrosinase | Sometimes (5–29%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Not recorded | In 1 condition |
| CARD14caspase recruitment domain family member 14 | Not recorded | In 1 condition |
| CSTAcystatin A | Not recorded | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Not recorded | In 1 condition |
| GBA1glucosylceramidase beta 1 | Not recorded | In 1 condition |
| GRHL2grainyhead like transcription factor 2 | Not recorded | In 1 condition |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Not recorded | In 1 condition |
| KITLGKIT ligand | Not recorded | In 1 condition |
| KLK11kallikrein related peptidase 11 | Not recorded | In 1 condition |
| MPDU1mannose-P-dolichol utilization defect 1 | Not recorded | In 1 condition |
| PNPLA1patatin like domain 1, omega-hydroxyceramide transacylase | Not recorded | In 1 condition |
| POLA1DNA polymerase alpha 1, catalytic subunit | Not recorded | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Not recorded | In 1 condition |
| SERPINB8serpin family B member 8 | Not recorded | In 1 condition |
| SOX18SRY-box transcription factor 18 | Not recorded | In 1 condition |
| SRD5A3steroid 5 alpha-reductase 3 | Not recorded | In 1 condition |
| ST14ST14 transmembrane serine protease matriptase | Not recorded | In 1 condition |
| ZNF750zinc finger protein 750 | Not recorded | 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.
Narrower traits
- Follicular hyperkeratosis32 genes
- Hyperkeratotic papule17 genes
- Plantar hyperkeratosis17 genes
- Palmar hyperkeratosis12 genes
- Thickened, discolored skin under nail8 genes
- Generalized hyperkeratosis7 genes
- Orthokeratotic hyperkeratosis7 genes
- Cobblestone-like hyperkeratosis5 genes
- Linear arrays of macular hyperkeratoses in flexural areas5 genes
- Hyperparakeratosis4 genes
- Perifollicular hyperkeratosis2 genes
- Gingival hyperkeratosis1 gene
- Hyperkeratosis over edematous areas1 gene
- Hyperkeratosis with erythema1 gene
- Periorificial hyperkeratosis1 gene
- Streaks of hyperkeratosis along each finger onto the palm1 gene
- Subungual hyperkeratotic fragments1 gene
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.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks