Trait
Partial absent skin pigmentation
Clinical name: Partial albinism
Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.
Summary
- Also called
- Congenital partial albinism on face, trunk, or limbs, Congenital partial leucoderma
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
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Get my Genome Test10 genes linked to Partial absent skin pigmentation
Changes in these genes cause rare conditions in which Partial absent 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 |
|---|---|---|
| PAX3paired box 3 | Always | In 2 conditions |
| LAMTOR2late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 | Very often (80–99%) | In 1 condition |
| MYO5Amyosin VA | Very often (80–99%) | In 2 conditions |
| RAB27ARAB27A, member RAS oncogene family | Very often (80–99%) | In 1 condition |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Sometimes (5–29%) | In 1 condition |
| MLPHmelanophilin | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Not recorded | In 1 condition |
| MITFmelanocyte inducing transcription factor | 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.
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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