Trait
Cutis marmorata
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.
Summary
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Cutis marmorata, and the rest of your genome, with one test.
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Get my Genome Test77 genes linked to Cutis marmorata
Changes in these genes cause rare conditions in which Cutis marmorata 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 |
|---|---|---|
| ABCC9ATP binding cassette subfamily C member 9 | Always | In 1 condition |
| CAV1caveolin 1 | Always | In 1 condition |
| DDX11DEAD/H-box helicase 11 | Always | In 1 condition |
| FEM1Bfem-1 homolog B | Always | In 1 condition |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Always | In 1 condition |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Always | In 1 condition |
| MED16mediator complex subunit 16 | Always | In 1 condition |
| NFIAnuclear factor I A | Always | In 2 conditions |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| STING1stimulator of interferon response cGAMP interactor 1 | Always | In 1 condition |
| UBAP2Lubiquitin associated protein 2 like | Always | In 1 condition |
| ACTA2actin alpha 2, smooth muscle | Very often (80–99%) | In 1 condition |
| ADA2adenosine deaminase 2 | Very often (80–99%) | In 3 conditions |
| ARHGAP31Rho GTPase activating protein 31 | Very often (80–99%) | In 2 conditions |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Very often (80–99%) | In 1 condition |
| DLL4delta like canonical Notch ligand 4 | Very often (80–99%) | In 2 conditions |
| DOCK6dedicator of cytokinesis 6 | Very often (80–99%) | In 2 conditions |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Very often (80–99%) | In 1 condition |
| ELNelastin | Very often (80–99%) | In 1 condition |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Very often (80–99%) | In 2 conditions |
| FBN1fibrillin 1 | Very often (80–99%) | In 1 condition |
| FOXE3forkhead box E3 | Very often (80–99%) | In 1 condition |
| GNA11G protein subunit alpha 11 | Very often (80–99%) | In 1 condition |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Very often (80–99%) | In 1 condition |
| LOXlysyl oxidase | Very often (80–99%) | In 1 condition |
| MAT2Amethionine adenosyltransferase 2A | Very often (80–99%) | In 1 condition |
| MFAP5microfibril associated protein 5 | Very often (80–99%) | In 1 condition |
| MYH11myosin heavy chain 11 | Very often (80–99%) | In 2 conditions |
| MYLKmyosin light chain kinase | Very often (80–99%) | In 1 condition |
| NOTCH1notch receptor 1 | Very often (80–99%) | In 1 condition |
| PRKG1protein kinase cGMP-dependent 1 | Very often (80–99%) | In 1 condition |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Very often (80–99%) | In 1 condition |
| SMAD2SMAD family member 2 | Very often (80–99%) | In 1 condition |
| SMAD3SMAD family member 3 | Very often (80–99%) | In 1 condition |
| SMAD4SMAD family member 4 | Very often (80–99%) | In 1 condition |
| TGFB2transforming growth factor beta 2 | Very often (80–99%) | In 1 condition |
| TGFB3transforming growth factor beta 3 | Very often (80–99%) | In 1 condition |
| TGFBR1transforming growth factor beta receptor 1 | Very often (80–99%) | In 1 condition |
| TGFBR2transforming growth factor beta receptor 2 | Very often (80–99%) | In 1 condition |
| THSD4thrombospondin type 1 domain containing 4 | Very often (80–99%) | In 1 condition |
Show 37 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| BRD4bromodomain containing 4 | Often (30–79%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Often (30–79%) | In 1 condition |
| H4C3H4 clustered histone 3 | Often (30–79%) | In 1 condition |
| HDAC8histone deacetylase 8 | Often (30–79%) | In 2 conditions |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Often (30–79%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Often (30–79%) | In 1 condition |
| NFIXnuclear factor I X | Often (30–79%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Often (30–79%) | In 2 conditions |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Often (30–79%) | In 3 conditions |
| RAD21RAD21 cohesin complex component | Often (30–79%) | In 2 conditions |
| SMC1Astructural maintenance of chromosomes 1A | Often (30–79%) | In 2 conditions |
| SMC3structural maintenance of chromosomes 3 | Often (30–79%) | In 2 conditions |
| SOX18SRY-box transcription factor 18 | Often (30–79%) | In 1 condition |
| ADARadenosine deaminase RNA specific | Sometimes (5–29%) | In 1 condition |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Sometimes (5–29%) | In 1 condition |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Sometimes (5–29%) | In 2 conditions |
| HEATR3HEAT repeat containing 3 | Sometimes (5–29%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Sometimes (5–29%) | In 1 condition |
| LSM11LSM11, U7 small nuclear RNA associated | Sometimes (5–29%) | In 1 condition |
| MYD88MYD88 innate immune signal transduction adaptor | Sometimes (5–29%) | In 1 condition |
| POLA1DNA polymerase alpha 1, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| PTENphosphatase and tensin homolog | Sometimes (5–29%) | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Sometimes (5–29%) | In 1 condition |
| RNASEH2Bribonuclease H2 subunit B | Sometimes (5–29%) | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Sometimes (5–29%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Sometimes (5–29%) | In 1 condition |
| STAG1STAG1 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Sometimes (5–29%) | In 1 condition |
| AGXTalanine--glyoxylate aminotransferase | Not recorded | In 1 condition |
| AKT3AKT serine/threonine kinase 3 | Not recorded | In 1 condition |
| ARID1BAT-rich interaction domain 1B | Not recorded | In 1 condition |
| CBScystathionine beta-synthase | Not recorded | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Not recorded | In 1 condition |
| RNF113Aring finger protein 113A | Not recorded | In 1 condition |
| RPS6KA3ribosomal protein S6 kinase A3 | 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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