Trait
Multiple birthmarks
Clinical name: Multiple cafe-au-lait spots
The presence of six or more cafe-au-lait spots.
Summary
- Also called
- Multiple flat light-brown marks on skin
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
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Get my Genome Test60 genes linked to Multiple birthmarks
Changes in these genes cause rare conditions in which Multiple birthmarks 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 |
|---|---|---|
| LRRC7leucine rich repeat containing 7 | Always | In 1 condition |
| MSH6mutS homolog 6 | Always | In 1 condition |
| NF1neurofibromin 1 | Always | In 5 conditions |
| LZTR1leucine zipper like post translational regulator 1 | Very often (80–99%) | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Very often (80–99%) | In 2 conditions |
| MLH1mutL homolog 1 | Very often (80–99%) | In 1 condition |
| SPRED1sprouty related EVH1 domain containing 1 | Very often (80–99%) | In 1 condition |
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Often (30–79%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Often (30–79%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| BRIP1BRCA1 interacting DNA helicase 1 | Often (30–79%) | In 2 conditions |
| CIB1calcium and integrin binding 1 | Often (30–79%) | In 1 condition |
| IL7interleukin 7 | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Often (30–79%) | In 1 condition |
| PCNTpericentrin | Often (30–79%) | In 1 condition |
| PDE11Aphosphodiesterase 11A | Often (30–79%) | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Often (30–79%) | In 1 condition |
| TMC6transmembrane channel like 6 | Often (30–79%) | In 1 condition |
| TMC8transmembrane channel like 8 | Often (30–79%) | In 1 condition |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Sometimes (5–29%) | In 1 condition |
| ATMATM serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BRCA1BRCA1 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Sometimes (5–29%) | In 1 condition |
| BUB3BUB3 mitotic checkpoint protein | Sometimes (5–29%) | In 1 condition |
| CEP57centrosomal protein 57 | Sometimes (5–29%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sometimes (5–29%) | In 1 condition |
| FAAP100FA core complex associated protein 100 | Sometimes (5–29%) | In 1 condition |
| FANCAFA complementation group A | Sometimes (5–29%) | In 1 condition |
| FANCBFA complementation group B | Sometimes (5–29%) | In 1 condition |
| FANCCFA complementation group C | Sometimes (5–29%) | In 1 condition |
| FANCD2FA complementation group D2 | Sometimes (5–29%) | In 1 condition |
| FANCEFA complementation group E | Sometimes (5–29%) | In 1 condition |
| FANCFFA complementation group F | Sometimes (5–29%) | In 1 condition |
| FANCGFA complementation group G | Sometimes (5–29%) | In 2 conditions |
| FANCIFA complementation group I | Sometimes (5–29%) | In 1 condition |
| FANCLFA complementation group L | Sometimes (5–29%) | In 1 condition |
| FANCMFA complementation group M | Sometimes (5–29%) | In 1 condition |
Show 20 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| GNA11G protein subunit alpha 11 | Sometimes (5–29%) | In 1 condition |
| KDM5Clysine demethylase 5C | Sometimes (5–29%) | In 1 condition |
| MAD2L2mitotic arrest deficient 2 like 2 | Sometimes (5–29%) | In 1 condition |
| PALB2partner and localizer of BRCA2 | Sometimes (5–29%) | In 1 condition |
| PLXND1plexin D1 | Sometimes (5–29%) | In 1 condition |
| PTENphosphatase and tensin homolog | Sometimes (5–29%) | In 2 conditions |
| RAD51RAD51 recombinase | Sometimes (5–29%) | In 1 condition |
| RAD51CRAD51 paralog C | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Sometimes (5–29%) | In 1 condition |
| RFWD3ring finger and WD repeat domain 3 | Sometimes (5–29%) | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Sometimes (5–29%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Sometimes (5–29%) | In 1 condition |
| TWIST2twist family bHLH transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| UBE2Tubiquitin conjugating enzyme E2 T | Sometimes (5–29%) | In 1 condition |
| XRCC2X-ray repair cross complementing 2 | Sometimes (5–29%) | In 1 condition |
| MAN1B1mannosidase alpha class 1B member 1 | Rarely (1–4%) | In 1 condition |
| TP63tumor protein p63 | Rarely (1–4%) | In 1 condition |
| MSH2mutS homolog 2 | Not recorded | In 1 condition |
| PMS2PMS1 homolog 2, mismatch repair system component | 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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