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Tunnus
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.
Kokkuvõte
Cutis marmorataHP:0000965
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Read the genes linked to Cutis marmorata, and the rest of your genome, with one test.
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Telli oma Genome Test77 geeni on seotud tunnusega Cutis marmorata
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Cutis marmorata. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABCC9ATP binding cassette subfamily C member 9 | Alati | Esineb 1 haiguses |
| CAV1caveolin 1 | Alati | Esineb 1 haiguses |
| DDX11DEAD/H-box helicase 11 | Alati | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Alati | Esineb 1 haiguses |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Alati | Esineb 1 haiguses |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Alati | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Alati | Esineb 1 haiguses |
| NFIAnuclear factor I A | Alati | Esineb 2 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Alati | Esineb 1 haiguses |
| STING1stimulator of interferon response cGAMP interactor 1 | Alati | Esineb 1 haiguses |
| UBAP2Lubiquitin associated protein 2 like | Alati | Esineb 1 haiguses |
| ACTA2actin alpha 2, smooth muscle | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADA2adenosine deaminase 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ARHGAP31Rho GTPase activating protein 31 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DLL4delta like canonical Notch ligand 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DOCK6dedicator of cytokinesis 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ELNelastin | Väga sageli (80–99%) | Esineb 1 haiguses |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Väga sageli (80–99%) | Esineb 2 haiguses |
| FBN1fibrillin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FOXE3forkhead box E3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GNA11G protein subunit alpha 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LOXlysyl oxidase | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAT2Amethionine adenosyltransferase 2A | Väga sageli (80–99%) | Esineb 1 haiguses |
| MFAP5microfibril associated protein 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MYH11myosin heavy chain 11 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MYLKmyosin light chain kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| NOTCH1notch receptor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRKG1protein kinase cGMP-dependent 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMAD2SMAD family member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMAD3SMAD family member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TGFB2transforming growth factor beta 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TGFB3transforming growth factor beta 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TGFBR1transforming growth factor beta receptor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| THSD4thrombospondin type 1 domain containing 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 37 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| BRD4bromodomain containing 4 | Sageli (30–79%) | Esineb 1 haiguses |
| DHCR77-dehydrocholesterol reductase | Sageli (30–79%) | Esineb 1 haiguses |
| H4C3H4 clustered histone 3 | Sageli (30–79%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Sageli (30–79%) | Esineb 2 haiguses |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Sageli (30–79%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Sageli (30–79%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Sageli (30–79%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Sageli (30–79%) | Esineb 2 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sageli (30–79%) | Esineb 3 haiguses |
| RAD21RAD21 cohesin complex component | Sageli (30–79%) | Esineb 2 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Sageli (30–79%) | Esineb 2 haiguses |
| SMC3structural maintenance of chromosomes 3 | Sageli (30–79%) | Esineb 2 haiguses |
| SOX18SRY-box transcription factor 18 | Sageli (30–79%) | Esineb 1 haiguses |
| ADARadenosine deaminase RNA specific | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| HEATR3HEAT repeat containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LSM11LSM11, U7 small nuclear RNA associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYD88MYD88 innate immune signal transduction adaptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLA1DNA polymerase alpha 1, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNASEH2Aribonuclease H2 subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNASEH2Bribonuclease H2 subunit B | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNASEH2Cribonuclease H2 subunit C | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU7-1RNA, U7 small nuclear 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAG1STAG1 cohesin complex component | Mõnikord (5–29%) | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AGXTalanine--glyoxylate aminotransferase | Pole registreeritud | Esineb 1 haiguses |
| AKT3AKT serine/threonine kinase 3 | Pole registreeritud | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Pole registreeritud | Esineb 1 haiguses |
| CBScystathionine beta-synthase | Pole registreeritud | Esineb 1 haiguses |
| PTDSS1phosphatidylserine synthase 1 | Pole registreeritud | Esineb 1 haiguses |
| RNF113Aring finger protein 113A | Pole registreeritud | Esineb 1 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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