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Egenskap
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.
Sammendrag
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/cutis-marmorata.json"
page <- fromJSON(url)
page$trait$nameCutis marmorataHP:0000965
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Les genene knyttet til Cutis marmorata, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test44 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Aortic AneurysmReads 12 of these genesACTA2FBN1FOXE3LOXMFAP5MYH11About this report →
- Aicardi-Goutieres SyndromeReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Adams-Oliver SyndromeReads 6 of these genesARHGAP31DLL4DOCK6EOGTNOTCH1RBPJAbout this report →
- Cornelia de Lange SyndromeReads 6 of these genesBRD4HDAC8NIPBLRAD21SMC1ASMC3About this report →
Show 40 more reports
- Loeys-Dietz SyndromeReads 6 of these genesSMAD2SMAD3TGFB2TGFB3TGFBR1TGFBR2About this report →
- Marfan Like SyndromesReads 7 of these genesFBN1SMAD2SMAD3TGFB2TGFB3TGFBR1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 11 of these genesSTING1ADA2ADARIFIH1POLA1RNASEH2AAbout this report →
- Moyamoya DiseaseReads 3 of these genesACTA2GUCY1A1SAMHD1About this report →
- Type I InterferonopathiesReads 4 of these genesSTING1IFIH1POLA1TREX1About this report →
- Deficiency of Adenosine Deaminase 2 (DADA2)Reads 1 of these genesADA2About this report →
- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma)Reads 1 of these genesTGFBR1About this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- NFIA-Related Brain MalformationsReads 1 of these genesNFIAAbout this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- Warsaw Breakage SyndromeReads 1 of these genesDDX11About this report →
- Other Inherited LeukodystrophiesReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 2 of these genesPIK3CAAKT3About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 2 of these genesMYH11MYLKAbout this report →
- Cantú SyndromeReads 1 of these genesABCC9About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesPTENAbout this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Other Inborn Errors of ImmunityReads 9 of these genesADARIFIH1MYD88RNASEH2ARNASEH2BRNASEH2CAbout this report →
- Primary HyperoxaluriaReads 1 of these genesAGXTAbout this report →
- Inherited Congenital Heart DefectsReads 2 of these genesELNNOTCH1About this report →
- Cutis LaxaReads 2 of these genesEFEMP2ELNAbout this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNFIXAbout this report →
- Intellectual DisabilityReads 7 of these genesSMAD4BRD4FOSL2POLA1STAG1ARID1BAbout this report →
- Inherited Neurodegenerative DisordersReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesCAV1About this report →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Inherited Parathyroid & Calcium-Sensing DisordersReads 1 of these genesGNA11About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesFOXE3About this report →
- Coffin-Siris SyndromeReads 1 of these genesARID1BAbout this report →
- LipodystrophyReads 1 of these genesCAV1About this report →
- Diamond-Blackfan AnemiaReads 1 of these genesHEATR3About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesSOX18About this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesCBSAbout this report →
- Autoimmune DiseaseReads 1 of these genesTREX1About this report →
- Thyroid CancerReads 1 of these genesGNA11About this report →
- Osteogenesis ImperfectaReads 1 of these genesIFIH1About this report →
- Dilated CardiomyopathyReads 1 of these genesABCC9About this report →
- Epilepsy (Full Panel)Reads 1 of these genesSMC1AAbout this report →
Les genene knyttet til Cutis marmorata, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test77 gener knyttet til Cutis marmorata
Endringer i disse genene forårsaker sjeldne tilstander der Cutis marmorata forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABCC9ATP binding cassette subfamily C member 9 | Alltid | I 1 tilstand |
| CAV1caveolin 1 | Alltid | I 1 tilstand |
| DDX11DEAD/H-box helicase 11 | Alltid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Alltid | I 1 tilstand |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Alltid | I 1 tilstand |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| NFIAnuclear factor I A | Alltid | I 2 tilstander |
| PTBP1polypyrimidine tract binding protein 1 | Alltid | I 1 tilstand |
| STING1stimulator of interferon response cGAMP interactor 1 | Alltid | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Alltid | I 1 tilstand |
| ACTA2actin alpha 2, smooth muscle | Svært ofte (80–99 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Svært ofte (80–99 %) | I 3 tilstander |
| ARHGAP31Rho GTPase activating protein 31 | Svært ofte (80–99 %) | I 2 tilstander |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Svært ofte (80–99 %) | I 1 tilstand |
| DLL4delta like canonical Notch ligand 4 | Svært ofte (80–99 %) | I 2 tilstander |
| DOCK6dedicator of cytokinesis 6 | Svært ofte (80–99 %) | I 2 tilstander |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Svært ofte (80–99 %) | I 1 tilstand |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Svært ofte (80–99 %) | I 2 tilstander |
| FBN1fibrillin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FOXE3forkhead box E3 | Svært ofte (80–99 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Svært ofte (80–99 %) | I 1 tilstand |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Svært ofte (80–99 %) | I 1 tilstand |
| LOXlysyl oxidase | Svært ofte (80–99 %) | I 1 tilstand |
| MAT2Amethionine adenosyltransferase 2A | Svært ofte (80–99 %) | I 1 tilstand |
| MFAP5microfibril associated protein 5 | Svært ofte (80–99 %) | I 1 tilstand |
| MYH11myosin heavy chain 11 | Svært ofte (80–99 %) | I 2 tilstander |
| MYLKmyosin light chain kinase | Svært ofte (80–99 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PRKG1protein kinase cGMP-dependent 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Svært ofte (80–99 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Svært ofte (80–99 %) | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| THSD4thrombospondin type 1 domain containing 4 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 37 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ofte (30–79 %) | I 1 tilstand |
| H4C3H4 clustered histone 3 | Ofte (30–79 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Ofte (30–79 %) | I 2 tilstander |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Ofte (30–79 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Ofte (30–79 %) | I 2 tilstander |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ofte (30–79 %) | I 3 tilstander |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 2 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 2 tilstander |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 2 tilstander |
| SOX18SRY-box transcription factor 18 | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Noen ganger (5–29 %) | I 1 tilstand |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Noen ganger (5–29 %) | I 2 tilstander |
| HEATR3HEAT repeat containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Noen ganger (5–29 %) | I 1 tilstand |
| MYD88MYD88 innate immune signal transduction adaptor | Noen ganger (5–29 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AGXTalanine--glyoxylate aminotransferase | Ikke registrert | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Ikke registrert | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ikke registrert | I 1 tilstand |
| CBScystathionine beta-synthase | Ikke registrert | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Ikke registrert | I 1 tilstand |
| RNF113Aring finger protein 113A | Ikke registrert | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.19-9814e911.
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