Trait
Milk spot
Clinical name: Milia
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Summary
- Also called
- Millium cyst
- 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 Test20 genes linked to Milk spot
Changes in these genes cause rare conditions in which Milk spot 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 |
|---|---|---|
| DHRS3dehydrogenase/reductase 3 | Always | In 1 condition |
| PPOXprotoporphyrinogen oxidase | Always | In 2 conditions |
| SMARCAD1SNF2 related chromatin remodeling ATPase with DExD box 1 | Always | In 2 conditions |
| COL17A1collagen type XVII alpha 1 chain | Very often (80–99%) | In 3 conditions |
| COL7A1collagen type VII alpha 1 chain | Very often (80–99%) | In 12 conditions |
| ITGB4integrin subunit beta 4 | Very often (80–99%) | In 4 conditions |
| LAMA3laminin subunit alpha 3 | Very often (80–99%) | In 2 conditions |
| LAMB3laminin subunit beta 3 | Very often (80–99%) | In 2 conditions |
| LAMC2laminin subunit gamma 2 | Very often (80–99%) | In 2 conditions |
| MMP1matrix metallopeptidase 1 | Very often (80–99%) | In 1 condition |
| KRT14keratin 14 | Often (30–79%) | In 7 conditions |
| KRT5keratin 5 | Often (30–79%) | In 6 conditions |
| LIFRLIF receptor subunit alpha | Often (30–79%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Often (30–79%) | In 2 conditions |
| FERMT1FERM domain containing kindlin 1 | Sometimes (5–29%) | In 1 condition |
| PLECplectin | Sometimes (5–29%) | In 3 conditions |
| CYLDCYLD lysine 63 deubiquitinase | Not recorded | In 1 condition |
| ITGA6integrin subunit alpha 6 | Not recorded | In 1 condition |
| PTCH1patched 1 | Not recorded | In 1 condition |
| TBC1D32TBC1 domain family member 32 | 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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