Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Irregular hyperpigmentation, and the rest of your genome, with one test.
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Get my Genome Test60 genes linked to Irregular hyperpigmentation
Changes in these genes cause rare conditions in which Irregular hyperpigmentation 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 |
|---|---|---|
| AKT1AKT serine/threonine kinase 1 | Very often (80–99%) | In 1 condition |
| BRCA1BRCA1 DNA repair associated | Very often (80–99%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Very often (80–99%) | In 1 condition |
| BRIP1BRCA1 interacting DNA helicase 1 | Very often (80–99%) | In 1 condition |
| CARD14caspase recruitment domain family member 14 | Very often (80–99%) | In 1 condition |
| COL3A1collagen type III alpha 1 chain | Very often (80–99%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Very often (80–99%) | In 1 condition |
| FAAP100FA core complex associated protein 100 | Very often (80–99%) | In 1 condition |
| FANCAFA complementation group A | Very often (80–99%) | In 1 condition |
| FANCBFA complementation group B | Very often (80–99%) | In 1 condition |
| FANCCFA complementation group C | Very often (80–99%) | In 1 condition |
| FANCD2FA complementation group D2 | Very often (80–99%) | In 1 condition |
| FANCEFA complementation group E | Very often (80–99%) | In 1 condition |
| FANCFFA complementation group F | Very often (80–99%) | In 1 condition |
| FANCGFA complementation group G | Very often (80–99%) | In 1 condition |
| FANCIFA complementation group I | Very often (80–99%) | In 1 condition |
| FANCLFA complementation group L | Very often (80–99%) | In 1 condition |
| FANCMFA complementation group M | Very often (80–99%) | In 1 condition |
| GNAQG protein subunit alpha q | Very often (80–99%) | In 1 condition |
| HGDhomogentisate 1,2-dioxygenase | Very often (80–99%) | In 1 condition |
| MAD2L2mitotic arrest deficient 2 like 2 | Very often (80–99%) | In 1 condition |
| PALB2partner and localizer of BRCA2 | Very often (80–99%) | In 1 condition |
| PTENphosphatase and tensin homolog | Very often (80–99%) | In 2 conditions |
| RAD51RAD51 recombinase | Very often (80–99%) | In 1 condition |
| RAD51CRAD51 paralog C | Very often (80–99%) | In 1 condition |
| RFWD3ring finger and WD repeat domain 3 | Very often (80–99%) | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Very often (80–99%) | In 1 condition |
| SPINK5serine peptidase inhibitor Kazal type 5 | Very often (80–99%) | In 1 condition |
| UBE2Tubiquitin conjugating enzyme E2 T | Very often (80–99%) | In 1 condition |
| XRCC2X-ray repair cross complementing 2 | Very often (80–99%) | In 1 condition |
| CD28CD28 molecule | Often (30–79%) | In 2 conditions |
| COL7A1collagen type VII alpha 1 chain | Often (30–79%) | In 1 condition |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Often (30–79%) | In 2 conditions |
| DNASE1L3deoxyribonuclease 1L3 | Often (30–79%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Often (30–79%) | In 1 condition |
| GJB3gap junction protein beta 3 | Often (30–79%) | In 1 condition |
| GJB4gap junction protein beta 4 | Often (30–79%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| KDSR3-ketodihydrosphingosine reductase | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
Show 20 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| LBRlamin B receptor | Often (30–79%) | In 1 condition |
| MAPRE2microtubule associated protein RP/EB family member 2 | Often (30–79%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| TNFRSF1BTNF receptor superfamily member 1B | Often (30–79%) | In 2 conditions |
| TUBBtubulin beta class I | Often (30–79%) | In 1 condition |
| CASRcalcium sensing receptor | Sometimes (5–29%) | In 1 condition |
| CHN1chimerin 1 | Sometimes (5–29%) | In 1 condition |
| CLTRNcollectrin, amino acid transport regulator | Sometimes (5–29%) | In 1 condition |
| GNA11G protein subunit alpha 11 | Sometimes (5–29%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| MAFBMAF bZIP transcription factor B | Sometimes (5–29%) | In 1 condition |
| NOTCH3notch receptor 3 | Sometimes (5–29%) | In 1 condition |
| PDGFRAplatelet derived growth factor receptor alpha | Sometimes (5–29%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Sometimes (5–29%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sometimes (5–29%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Sometimes (5–29%) | In 1 condition |
| SDHCsuccinate dehydrogenase complex subunit C | Sometimes (5–29%) | In 1 condition |
| SLC6A19solute carrier family 6 member 19 | Sometimes (5–29%) | In 1 condition |
| SLF2SMC5/6 complex localization factor 2 | 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.
Narrower traits
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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