Trait
Hypomelanotic macule
Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.
Summary
- Also called
- Hypomelanotic macules
- 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 Test8 genes linked to Hypomelanotic macule
Changes in these genes cause rare conditions in which Hypomelanotic macule 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 |
|---|---|---|
| IFNGinterferon gamma | Very often (80–99%) | In 2 conditions |
| TSC1TSC complex subunit 1 | Very often (80–99%) | In 2 conditions |
| TSC2TSC complex subunit 2 | Very often (80–99%) | In 2 conditions |
| KRT14keratin 14 | Often (30–79%) | In 2 conditions |
| KRT5keratin 5 | Often (30–79%) | In 2 conditions |
| SASH1SAM and SH3 domain containing 1 | Often (30–79%) | In 1 condition |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Sometimes (5–29%) | In 1 condition |
| POFUT1protein O-fucosyltransferase 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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