Trait
Abnormal skin pigmentation
An abnormality of the pigmentation of the skin.
Summary
- Also called
- Abnormal pigmentation, Abnormality of pigmentation, Abnormality of skin pigmentation, Pigmentary changes, Pigmentary skin changes, Pigmentation anomaly
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test87 genes linked to Abnormal skin pigmentation
Changes in these genes cause rare conditions in which Abnormal skin pigmentation 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 |
|---|---|---|
| TYMSthymidylate synthetase | Always | In 1 condition |
| WRAP53WD repeat containing antisense to TP53 | Always | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Very often (80–99%) | In 1 condition |
| ALKALK receptor tyrosine kinase | Very often (80–99%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | 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 |
| CAV1caveolin 1 | Very often (80–99%) | In 1 condition |
| CCN2cellular communication network factor 2 | Very often (80–99%) | In 1 condition |
| CCR6C-C motif chemokine receptor 6 | Very often (80–99%) | In 1 condition |
| COL17A1collagen type XVII alpha 1 chain | Very often (80–99%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | 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 2 conditions |
| 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 2 conditions |
| 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 |
| HCCSholocytochrome c synthase | Very often (80–99%) | In 1 condition |
| HGDhomogentisate 1,2-dioxygenase | Very often (80–99%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Very often (80–99%) | In 1 condition |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Very often (80–99%) | In 2 conditions |
| IRF5interferon regulatory factor 5 | Very often (80–99%) | In 1 condition |
| ITGB4integrin subunit beta 4 | Very often (80–99%) | In 1 condition |
| KIAA0319LKIAA0319 like | Very often (80–99%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Very often (80–99%) | In 1 condition |
| LAMA3laminin subunit alpha 3 | Very often (80–99%) | In 1 condition |
| LAMB3laminin subunit beta 3 | Very often (80–99%) | In 1 condition |
| LAMC2laminin subunit gamma 2 | Very often (80–99%) | In 1 condition |
| MAD2L2mitotic arrest deficient 2 like 2 | Very often (80–99%) | In 1 condition |
| MITFmelanocyte inducing transcription factor | Very often (80–99%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Very often (80–99%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
Show 47 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PALB2partner and localizer of BRCA2 | Very often (80–99%) | In 1 condition |
| RAD51RAD51 recombinase | Very often (80–99%) | In 1 condition |
| RAD51CRAD51 paralog C | Very often (80–99%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | 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 |
| SOX5SRY-box transcription factor 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 |
| ZEB2zinc finger E-box binding homeobox 2 | Very often (80–99%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Often (30–79%) | In 1 condition |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Often (30–79%) | In 1 condition |
| B4GALT7beta-1,4-galactosyltransferase 7 | Often (30–79%) | In 1 condition |
| FERMT1FERM domain containing kindlin 1 | Often (30–79%) | In 1 condition |
| PARNpoly(A)-specific ribonuclease | Often (30–79%) | In 1 condition |
| SEC23ASEC23 homolog A, COPII component | Often (30–79%) | In 1 condition |
| VPS13Bvacuolar protein sorting 13 homolog B | Often (30–79%) | In 1 condition |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Sometimes (5–29%) | In 1 condition |
| BUB3BUB3 mitotic checkpoint protein | Sometimes (5–29%) | In 1 condition |
| CEP57centrosomal protein 57 | Sometimes (5–29%) | In 1 condition |
| DDX3XDEAD-box helicase 3 X-linked | Sometimes (5–29%) | In 1 condition |
| EDARectodysplasin A receptor | Sometimes (5–29%) | In 1 condition |
| EDARADDEDAR associated via death domain | Sometimes (5–29%) | In 1 condition |
| IDUAalpha-L-iduronidase | Sometimes (5–29%) | In 1 condition |
| KDF1keratinocyte differentiation factor 1 | Sometimes (5–29%) | In 1 condition |
| LRP6LDL receptor related protein 6 | Sometimes (5–29%) | In 1 condition |
| PROCprotein C, inactivator of coagulation factors Va and VIIIa | Sometimes (5–29%) | In 1 condition |
| PROS1protein S | Sometimes (5–29%) | In 1 condition |
| TRAF6TNF receptor associated factor 6 | Sometimes (5–29%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Sometimes (5–29%) | In 1 condition |
| TSC1TSC complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| TSC2TSC complex subunit 2 | Sometimes (5–29%) | In 1 condition |
| TWIST2twist family bHLH transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| COL7A1collagen type VII alpha 1 chain | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Not recorded | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Not recorded | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Not recorded | In 1 condition |
| SLCO1B1solute carrier organic anion transporter family member 1B1 | Not recorded | In 1 condition |
| SLCO1B3solute carrier organic anion transporter family member 1B3 | Not recorded | In 1 condition |
| SRD5A3steroid 5 alpha-reductase 3 | Not recorded | In 1 condition |
| TUBGCP6tubulin gamma complex component 6 | Not recorded | In 1 condition |
| TYRP1tyrosinase related protein 1 | 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
- Patchy darkened skin103 genes
- Patchy lightened skin65 genes
- Freckling44 genes
- Blotchy loss of skin color39 genes
- Numerous pigmented freckles13 genes
- Mottled skin coloring8 genes
- Reticulated skin pigmentation6 genes
- Dark circles around the eyes4 genes
- Depigmentation/hyperpigmentation of skin4 genes
- Blotching pigmentation of the skin2 genes
- Abnormal pigmentation in sun-exposed skin1 gene
- Fine, reticulate skin pigmentation1 gene
- Pigment incontinence1 gene
- Abnormal dermal melanosome morphology
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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