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Kenmerk
Spider veins
Klinische naam: Telangiectasia
Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
Samenvatting
- Ook bekend als
- Telangiectases
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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/telangiectasia.json"
page <- fromJSON(url)
page$trait$nameSpider veinsHP:0001009
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Lees de genen die aan Spider veins gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen46 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.
- Hereditary Hemorrhagic TelangiectasiaReads 4 of these genesENGGDF2ACVRL1SMAD4About this report →
- GPI Anchor Biosynthesis DefectsReads 7 of these genesPGAP2PGAP3PIGLPIGOPIGVPIGWAbout this report →
- DNA Repair DiseaseReads 10 of these genesERCC6XPCDDB2ERCC2ERCC3ERCC4About this report →
- Rothmund-Thomson SyndromeReads 2 of these genesANAPC1RECQL4About this report →
Show 42 more reports
- Moyamoya DiseaseReads 2 of these genesACTA2RNF213About this report →
- Bloom SyndromeReads 1 of these genesBLMAbout this report →
- DIAPH1-Related Microcephaly, Seizures and Cortical BlindnessReads 1 of these genesDIAPH1About this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- Nail-Patella SyndromeReads 1 of these genesLMX1BAbout this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- Congenital Disorders of GlycosylationReads 8 of these genesPGAP2PGAP3PIGLPIGOPIGVPIGWAbout this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 2 of these genesNAGANEU1About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesPTENAbout this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Type I InterferonopathiesReads 2 of these genesSTING1TREX1About this report →
- Cerebral Cavernous MalformationReads 1 of these genesCCM2About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesREREAbout this report →
- Hereditary Vascular MalformationsReads 1 of these genesEPHB4About this report →
- Syndromic CraniosynostosisReads 2 of these genesSKIRECQL4About this report →
- HemochromatosisReads 1 of these genesHFEAbout this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesBMPR2About this report →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesERCC2ERCC5About this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesTREX1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 2 of these genesSTING1TREX1About this report →
- Marfan Like SyndromesReads 1 of these genesSKIAbout this report →
- Aortic AneurysmReads 1 of these genesACTA2About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesRNF168PNKPAbout this report →
- Lysosomal Storage DiseaseReads 2 of these genesNAGANEU1About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesEPHB4About this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- Epidermolysis BullosaReads 1 of these genesCOL7A1About this report →
- Autoimmune DiseaseReads 1 of these genesTREX1About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesLIG4About this report →
- Inherited ThrombocytopeniasReads 1 of these genesDIAPH1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesPNKPAbout this report →
- Inherited Neurodegenerative DisordersReads 3 of these genesRNF168TREX1PNKPAbout this report →
- Epilepsy (Full Panel)Reads 2 of these genesSTXBP1PNKPAbout this report →
- Dilated CardiomyopathyReads 1 of these genesPRDM16About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesLIG4TREX1About this report →
- Intellectual DisabilityReads 2 of these genesSMAD4PIGLAbout this report →
- Other Inherited LeukodystrophiesReads 1 of these genesTREX1About this report →
- Hearing Loss and DeafnessReads 1 of these genesDIAPH1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesPNKPAbout this report →
Lees de genen die aan Spider veins gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen63 genen gekoppeld aan Spider veins
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Spider veins 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 |
|---|---|---|
| ATRATR checkpoint kinase | Altijd | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Altijd | In 1 aandoening |
| ENGendoglin | Altijd | In 2 aandoeningen |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altijd | In 2 aandoeningen |
| GDF2growth differentiation factor 2 | Altijd | In 2 aandoeningen |
| STING1stimulator of interferon response cGAMP interactor 1 | Altijd | In 1 aandoening |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Altijd | In 2 aandoeningen |
| ACTA2actin alpha 2, smooth muscle | Heel vaak (80–99%) | In 1 aandoening |
| ACVRL1activin A receptor like type 1 | Heel vaak (80–99%) | In 1 aandoening |
| ANO1anoctamin 1 | Heel vaak (80–99%) | In 1 aandoening |
| DDB2damage specific DNA binding protein 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| DIAPH1diaphanous related formin 1 | Heel vaak (80–99%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 3 aandoeningen |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 1 aandoening |
| RNF213ring finger protein 213 | Heel vaak (80–99%) | In 1 aandoening |
| SMAD4SMAD family member 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| XPAXPA, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 2 aandoeningen |
| ANAPC1anaphase promoting complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| COL7A1collagen type VII alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| NAGAalpha-N-acetylgalactosaminidase | Vaak (30–79%) | In 1 aandoening |
| POLHDNA polymerase eta | Vaak (30–79%) | In 1 aandoening |
| TALDO1transaldolase 1 | Vaak (30–79%) | In 2 aandoeningen |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| BLMBLM RecQ like helicase | Soms (5–29%) | In 1 aandoening |
| CASZ1castor zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Soms (5–29%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Soms (5–29%) | In 1 aandoening |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Soms (5–29%) | In 1 aandoening |
| LIG4DNA ligase 4 | Soms (5–29%) | In 1 aandoening |
| LMX1BLIM homeobox transcription factor 1 beta | Soms (5–29%) | In 1 aandoening |
| LUZP1leucine zipper protein 1 | Soms (5–29%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Soms (5–29%) | In 1 aandoening |
| NEU1neuraminidase 1 | Soms (5–29%) | In 1 aandoening |
| PDPNpodoplanin | Soms (5–29%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Soms (5–29%) | In 1 aandoening |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Soms (5–29%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Soms (5–29%) | In 1 aandoening |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Soms (5–29%) | In 1 aandoening |
Toon nog 23 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Soms (5–29%) | In 1 aandoening |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Soms (5–29%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Soms (5–29%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Soms (5–29%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Soms (5–29%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 1 aandoening |
| RNF168ring finger protein 168 | Soms (5–29%) | In 1 aandoening |
| SKISKI proto-oncogene | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| STXBP1syntaxin binding protein 1 | Soms (5–29%) | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Soms (5–29%) | In 2 aandoeningen |
| UBE4Bubiquitination factor E4B | Soms (5–29%) | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Niet vastgelegd | In 1 aandoening |
| BMPR2bone morphogenetic protein receptor type 2 | Niet vastgelegd | In 1 aandoening |
| CCM2CCM2 scaffold protein | Niet vastgelegd | In 1 aandoening |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Niet vastgelegd | In 1 aandoening |
| EPHB4EPH receptor B4 | Niet vastgelegd | In 1 aandoening |
| HFEhomeostatic iron regulator | Niet vastgelegd | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Niet vastgelegd | In 1 aandoening |
| PORCNporcupine O-acyltransferase | Niet vastgelegd | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Niet vastgelegd | In 1 aandoening |
| UVSSAUV stimulated scaffold protein A | 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.
Smallere kenmerken
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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The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
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