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Kenmerk
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.
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Deze pagina als gegevens
Voeg .json toe aan het adres van de pagina, of vraag application/json aan, om haar als JSON te lezen.
library(jsonlite)
url <- "https://dantelabs.com/traits/cutis-marmorata.json"
page <- fromJSON(url)
page$trait$nameCutis marmorataHP:0000965
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Lees de genen die aan Cutis marmorata gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen44 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 →
Lees de genen die aan Cutis marmorata gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen77 genen gekoppeld aan Cutis marmorata
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Cutis marmorata voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ABCC9ATP binding cassette subfamily C member 9 | Altijd | In 1 aandoening |
| CAV1caveolin 1 | Altijd | In 1 aandoening |
| DDX11DEAD/H-box helicase 11 | Altijd | In 1 aandoening |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Altijd | In 1 aandoening |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Altijd | In 1 aandoening |
| MED16mediator complex subunit 16 | Altijd | In 1 aandoening |
| NFIAnuclear factor I A | Altijd | In 2 aandoeningen |
| PTBP1polypyrimidine tract binding protein 1 | Altijd | In 1 aandoening |
| STING1stimulator of interferon response cGAMP interactor 1 | Altijd | In 1 aandoening |
| UBAP2Lubiquitin associated protein 2 like | Altijd | In 1 aandoening |
| ACTA2actin alpha 2, smooth muscle | Heel vaak (80–99%) | In 1 aandoening |
| ADA2adenosine deaminase 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| ARHGAP31Rho GTPase activating protein 31 | Heel vaak (80–99%) | In 2 aandoeningen |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Heel vaak (80–99%) | In 1 aandoening |
| DLL4delta like canonical Notch ligand 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| DOCK6dedicator of cytokinesis 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| ELNelastin | Heel vaak (80–99%) | In 1 aandoening |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Heel vaak (80–99%) | In 2 aandoeningen |
| FBN1fibrillin 1 | Heel vaak (80–99%) | In 1 aandoening |
| FOXE3forkhead box E3 | Heel vaak (80–99%) | In 1 aandoening |
| GNA11G protein subunit alpha 11 | Heel vaak (80–99%) | In 1 aandoening |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Heel vaak (80–99%) | In 1 aandoening |
| LOXlysyl oxidase | Heel vaak (80–99%) | In 1 aandoening |
| MAT2Amethionine adenosyltransferase 2A | Heel vaak (80–99%) | In 1 aandoening |
| MFAP5microfibril associated protein 5 | Heel vaak (80–99%) | In 1 aandoening |
| MYH11myosin heavy chain 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| MYLKmyosin light chain kinase | Heel vaak (80–99%) | In 1 aandoening |
| NOTCH1notch receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| PRKG1protein kinase cGMP-dependent 1 | Heel vaak (80–99%) | In 1 aandoening |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Heel vaak (80–99%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Heel vaak (80–99%) | In 1 aandoening |
| SMAD3SMAD family member 3 | Heel vaak (80–99%) | In 1 aandoening |
| SMAD4SMAD family member 4 | Heel vaak (80–99%) | In 1 aandoening |
| TGFB2transforming growth factor beta 2 | Heel vaak (80–99%) | In 1 aandoening |
| TGFB3transforming growth factor beta 3 | Heel vaak (80–99%) | In 1 aandoening |
| TGFBR1transforming growth factor beta receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Heel vaak (80–99%) | In 1 aandoening |
| THSD4thrombospondin type 1 domain containing 4 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 37 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Vaak (30–79%) | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Vaak (30–79%) | In 1 aandoening |
| H4C3H4 clustered histone 3 | Vaak (30–79%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Vaak (30–79%) | In 2 aandoeningen |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Vaak (30–79%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Vaak (30–79%) | In 1 aandoening |
| NFIXnuclear factor I X | Vaak (30–79%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Vaak (30–79%) | In 2 aandoeningen |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Vaak (30–79%) | In 3 aandoeningen |
| RAD21RAD21 cohesin complex component | Vaak (30–79%) | In 2 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Vaak (30–79%) | In 2 aandoeningen |
| SMC3structural maintenance of chromosomes 3 | Vaak (30–79%) | In 2 aandoeningen |
| SOX18SRY-box transcription factor 18 | Vaak (30–79%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Soms (5–29%) | In 1 aandoening |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Soms (5–29%) | In 1 aandoening |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Soms (5–29%) | In 2 aandoeningen |
| HEATR3HEAT repeat containing 3 | Soms (5–29%) | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Soms (5–29%) | In 1 aandoening |
| LSM11LSM11, U7 small nuclear RNA associated | Soms (5–29%) | In 1 aandoening |
| MYD88MYD88 innate immune signal transduction adaptor | Soms (5–29%) | In 1 aandoening |
| POLA1DNA polymerase alpha 1, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 1 aandoening |
| RNASEH2Aribonuclease H2 subunit A | Soms (5–29%) | In 1 aandoening |
| RNASEH2Bribonuclease H2 subunit B | Soms (5–29%) | In 1 aandoening |
| RNASEH2Cribonuclease H2 subunit C | Soms (5–29%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Soms (5–29%) | In 1 aandoening |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Soms (5–29%) | In 1 aandoening |
| STAG1STAG1 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Soms (5–29%) | In 1 aandoening |
| AGXTalanine--glyoxylate aminotransferase | Niet vastgelegd | In 1 aandoening |
| AKT3AKT serine/threonine kinase 3 | Niet vastgelegd | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Niet vastgelegd | In 1 aandoening |
| CBScystathionine beta-synthase | Niet vastgelegd | In 1 aandoening |
| PTDSS1phosphatidylserine synthase 1 | Niet vastgelegd | In 1 aandoening |
| RNF113Aring finger protein 113A | Niet vastgelegd | In 1 aandoening |
| RPS6KA3ribosomal protein S6 kinase A3 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.19-9814e911.
AtlasVoor wie we er zijnOnze wetenschapProductenResultaten
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