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Trait

Thickening of upper layer of skin

Clinical name: Epidermal acanthosis

Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).

HPO HP:0025092

Summary

Also called
Acanthosis, Acanthotic epidermis
Body system
Abnormality of the integument

58 genes linked to Thickening of upper layer of skin

Changes in these genes cause rare conditions in which Thickening of upper layer of skin 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.

GeneHow often it is seenConditions
ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2AlwaysIn 2 conditions
CASTcalpastatinAlwaysIn 1 condition
CERS3ceramide synthase 3AlwaysIn 1 condition
DSC3desmocollin 3AlwaysIn 1 condition
DSG1desmoglein 1AlwaysIn 1 condition
DSPdesmoplakinAlwaysIn 1 condition
EGFRepidermal growth factor receptorAlwaysIn 1 condition
ELOVL1ELOVL fatty acid elongase 1AlwaysIn 1 condition
EXPH5exophilin 5AlwaysIn 1 condition
GJA1gap junction protein alpha 1AlwaysIn 1 condition
GRHL2grainyhead like transcription factor 2AlwaysIn 1 condition
IL1RNinterleukin 1 receptor antagonistAlwaysIn 1 condition
IL36RNinterleukin 36 receptor antagonistAlwaysIn 1 condition
INSRinsulin receptorAlwaysIn 1 condition
IRF4interferon regulatory factor 4AlwaysIn 1 condition
JUPjunction plakoglobinAlwaysIn 1 condition
KRT10keratin 10AlwaysIn 1 condition
LIPNlipase family member NAlwaysIn 1 condition
PERPp53 apoptosis effector related to PMP22AlwaysIn 1 condition
SLC27A4solute carrier family 27 member 4AlwaysIn 1 condition
SPINK5serine peptidase inhibitor Kazal type 5AlwaysIn 1 condition
CCDC91coiled-coil domain containing 91Very often (80–99%)In 1 condition
TGM1transglutaminase 1Very often (80–99%)In 2 conditions
AAGABalpha and gamma adaptin binding proteinOften (30–79%)In 2 conditions
CDSNcorneodesmosinOften (30–79%)In 1 condition
COL14A1collagen type XIV alpha 1 chainOften (30–79%)In 1 condition
GJB2gap junction protein beta 2Often (30–79%)In 1 condition
GJB6gap junction protein beta 6Often (30–79%)In 1 condition
KRT1keratin 1Often (30–79%)In 2 conditions
KRT16keratin 16Often (30–79%)In 1 condition
KRT74keratin 74Often (30–79%)In 1 condition
KRT9keratin 9Often (30–79%)In 1 condition
NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHLOften (30–79%)In 2 conditions
SLURP1secreted LY6/PLAUR domain containing 1Often (30–79%)In 1 condition
CSTAcystatin ASometimes (5–29%)In 1 condition
LORICRINloricrin cornified envelope precursor proteinSometimes (5–29%)In 1 condition
AKT1AKT serine/threonine kinase 1Not recordedIn 1 condition
ALOX12Barachidonate 12-lipoxygenase, 12R typeNot recordedIn 1 condition
ALOXE3arachidonate epidermal lipoxygenase 3Not recordedIn 1 condition
CARD14caspase recruitment domain family member 14Not recordedIn 1 condition
Show 18 more genes
GeneHow often it is seenConditions
CIB1calcium and integrin binding 1Not recordedIn 1 condition
CLDN1claudin 1Not recordedIn 1 condition
CYP4F22cytochrome P450 family 4 subfamily F member 22Not recordedIn 1 condition
ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1Not recordedIn 1 condition
GJB3gap junction protein beta 3Not recordedIn 1 condition
KDSR3-ketodihydrosphingosine reductaseNot recordedIn 1 condition
KLK11kallikrein related peptidase 11Not recordedIn 1 condition
KRT13keratin 13Not recordedIn 1 condition
KRT6Ckeratin 6CNot recordedIn 1 condition
MBTPS2membrane bound transcription factor peptidase, site 2Not recordedIn 1 condition
NIPAL4NIPA like domain containing 4Not recordedIn 1 condition
NLRP1NLR family pyrin domain containing 1Not recordedIn 2 conditions
POGLUT1protein O-glucosyltransferase 1Not recordedIn 1 condition
SERPINB7serpin family B member 7Not recordedIn 1 condition
SERPINB8serpin family B member 8Not recordedIn 1 condition
SMARCAD1SNF2 related chromatin remodeling ATPase with DExD box 1Not recordedIn 2 conditions
WNT10AWnt family member 10ANot recordedIn 1 condition
ZNF750zinc finger protein 750Not recordedIn 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

Broader traits

Abnormal epidermal morphology

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 2026.10.17-8666dff2.

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