Trait
Albinism
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
Summary
- Also called
- Achromasia
- 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 Test19 genes linked to Albinism
Changes in these genes cause rare conditions in which Albinism 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 |
|---|---|---|
| AP3B1adaptor related protein complex 3 subunit beta 1 | Always | In 1 condition |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Always | In 1 condition |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Always | In 1 condition |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Always | In 1 condition |
| EDNRBendothelin receptor type B | Always | In 1 condition |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Always | In 1 condition |
| HPS4HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | Always | In 1 condition |
| HPS5HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 | Always | In 1 condition |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Always | In 1 condition |
| TYRtyrosinase | Very often (80–99%) | In 4 conditions |
| SLC45A2solute carrier family 45 member 2 | Often (30–79%) | In 2 conditions |
| DTNBP1dystrobrevin binding protein 1 | Not recorded | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Not recorded | In 1 condition |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Not recorded | In 1 condition |
| LRMDAleucine rich melanocyte differentiation associated | Not recorded | In 1 condition |
| MC1Rmelanocortin 1 receptor | Not recorded | In 1 condition |
| MITFmelanocyte inducing transcription factor | Not recorded | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | 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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