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Trait
Darkened and thickened skin
Clinical name: Acanthosis nigricans
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
Summary
- Also called
- Keratosis nigricans
- Body system
- Abnormality of the integument
Darkened and thickened skinHP:0000956
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Read the genes linked to Darkened and thickened skin, and the rest of your genome, with one test.
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Get my Genome Test63 genes linked to Darkened and thickened skin
Changes in these genes cause rare conditions in which Darkened and thickened 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.
| Gene | How often it is seen | Conditions |
|---|---|---|
| APOA1apolipoprotein A1 | Always | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Always | In 2 conditions |
| CIDECcell death inducing DFFA like effector c | Always | In 2 conditions |
| FGFR2fibroblast growth factor receptor 2 | Always | In 3 conditions |
| FGFR3fibroblast growth factor receptor 3 | Always | In 8 conditions |
| INSRinsulin receptor | Always | In 5 conditions |
| LMNAlamin A/C | Always | In 5 conditions |
| PLIN1perilipin 1 | Always | In 2 conditions |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Very often (80–99%) | In 1 condition |
| AKT2AKT serine/threonine kinase 2 | Very often (80–99%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Very often (80–99%) | In 2 conditions |
| LIPElipase E, hormone sensitive type | Very often (80–99%) | In 2 conditions |
| ADRA2Aadrenoceptor alpha 2A | Often (30–79%) | In 1 condition |
| ALMS1ALMS1 centrosome and basal body associated protein | Often (30–79%) | In 2 conditions |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Often (30–79%) | In 1 condition |
| CAV1caveolin 1 | Often (30–79%) | In 2 conditions |
| COPB1coat protein complex I subunit beta 1 | Often (30–79%) | In 1 condition |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Often (30–79%) | In 1 condition |
| ESR1estrogen receptor 1 | Often (30–79%) | In 2 conditions |
| HSD11B1hydroxysteroid 11-beta dehydrogenase 1 | Often (30–79%) | In 1 condition |
| PHLDB1pleckstrin homology like domain family B member 1 | Often (30–79%) | In 1 condition |
| PKDCCprotein kinase domain containing, cytoplasmic | Often (30–79%) | In 1 condition |
| PLAAT3phospholipase A and acyltransferase 3 | Often (30–79%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Often (30–79%) | In 1 condition |
| PPARGperoxisome proliferator activated receptor gamma | Often (30–79%) | In 2 conditions |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Often (30–79%) | In 1 condition |
| SPINK5serine peptidase inhibitor Kazal type 5 | Often (30–79%) | In 1 condition |
| TFE3transcription factor binding to IGHM enhancer 3 | Often (30–79%) | In 1 condition |
| AFF4ALF transcription elongation factor 4 | Sometimes (5–29%) | In 1 condition |
| AIPAHR interacting HSP90 co-chaperone | Sometimes (5–29%) | In 1 condition |
| CACHD1cache domain containing 1 | Sometimes (5–29%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Sometimes (5–29%) | In 1 condition |
| CLDN1claudin 1 | Sometimes (5–29%) | In 1 condition |
| CUL4Bcullin 4B | Sometimes (5–29%) | In 1 condition |
| GPR101G protein-coupled receptor 101 | Sometimes (5–29%) | In 2 conditions |
| JARID2jumonji and AT-rich interaction domain containing 2 | Sometimes (5–29%) | In 1 condition |
| JUPjunction plakoglobin | Sometimes (5–29%) | In 1 condition |
| MC4Rmelanocortin 4 receptor | Sometimes (5–29%) | In 1 condition |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Sometimes (5–29%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Sometimes (5–29%) | In 1 condition |
Show 23 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PEX6peroxisomal biogenesis factor 6 | Sometimes (5–29%) | In 1 condition |
| POMCproopiomelanocortin | Sometimes (5–29%) | In 1 condition |
| PSMB8proteasome 20S subunit beta 8 | Sometimes (5–29%) | In 1 condition |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Sometimes (5–29%) | In 1 condition |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Sometimes (5–29%) | In 1 condition |
| ABCC8ATP binding cassette subfamily C member 8 | Not recorded | In 1 condition |
| APPL1adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | Not recorded | In 1 condition |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Not recorded | In 1 condition |
| CELcarboxyl ester lipase | Not recorded | In 1 condition |
| ELOVL1ELOVL fatty acid elongase 1 | Not recorded | In 1 condition |
| GCKglucokinase | Not recorded | In 1 condition |
| HNF1AHNF1 homeobox A | Not recorded | In 1 condition |
| HNF4Ahepatocyte nuclear factor 4 alpha | Not recorded | In 1 condition |
| INSinsulin | Not recorded | In 1 condition |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Not recorded | In 1 condition |
| KLF11KLF transcription factor 11 | Not recorded | In 1 condition |
| NEUROD1neuronal differentiation 1 | Not recorded | In 1 condition |
| NOTCH3notch receptor 3 | Not recorded | In 1 condition |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Not recorded | In 1 condition |
| PAX4paired box 4 | Not recorded | In 1 condition |
| PDX1pancreatic and duodenal homeobox 1 | Not recorded | In 1 condition |
| PSMB4proteasome 20S subunit beta 4 | Not recorded | In 1 condition |
| XRCC4X-ray repair cross complementing 4 | 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.
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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