Trait
Blotchy loss of skin color
Clinical name: Vitiligo
Summary
- Also called
- Blotchy loss of skin colour
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
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Get my Genome Test39 genes linked to Blotchy loss of skin color
Changes in these genes cause rare conditions in which Blotchy loss of skin color 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 |
|---|---|---|
| CTNNBL1catenin beta like 1 | Always | In 1 condition |
| DSTYKdual serine/threonine and tyrosine protein kinase | Always | In 2 conditions |
| RNU6ATACRNA, U6atac small nuclear | Always | In 1 condition |
| FASFas cell surface death receptor | Very often (80–99%) | In 1 condition |
| FOXD3forkhead box D3 | Very often (80–99%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Very often (80–99%) | In 1 condition |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Very often (80–99%) | In 1 condition |
| CBLBCbl proto-oncogene B | Often (30–79%) | In 1 condition |
| IKZF2IKAROS family zinc finger 2 | Often (30–79%) | In 1 condition |
| TRACT cell receptor alpha constant | Often (30–79%) | In 1 condition |
| AIREautoimmune regulator | Sometimes (5–29%) | In 2 conditions |
| DCLRE1CDNA cross-link repair 1C | Sometimes (5–29%) | In 1 condition |
| EMC1ER membrane protein complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| KITLGKIT ligand | Sometimes (5–29%) | In 1 condition |
| LRBALPS responsive beige-like anchor protein | Sometimes (5–29%) | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sometimes (5–29%) | In 1 condition |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Sometimes (5–29%) | In 1 condition |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sometimes (5–29%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sometimes (5–29%) | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sometimes (5–29%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sometimes (5–29%) | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Sometimes (5–29%) | In 1 condition |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Sometimes (5–29%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sometimes (5–29%) | In 1 condition |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Sometimes (5–29%) | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Sometimes (5–29%) | In 1 condition |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Sometimes (5–29%) | In 1 condition |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sometimes (5–29%) | In 1 condition |
| PLCG2phospholipase C gamma 2 | Sometimes (5–29%) | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Sometimes (5–29%) | In 1 condition |
| ACP5acid phosphatase 5, tartrate resistant | Rarely (1–4%) | In 2 conditions |
| CATcatalase | Rarely (1–4%) | In 1 condition |
| CXCR4C-X-C motif chemokine receptor 4 | Rarely (1–4%) | In 1 condition |
| HRHR lysine demethylase and nuclear receptor corepressor | Rarely (1–4%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Rarely (1–4%) | In 1 condition |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Rarely (1–4%) | In 1 condition |
| NFKB2nuclear factor kappa B subunit 2 | Not recorded | In 1 condition |
| NLRP1NLR family pyrin domain containing 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.
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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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