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Egenskap
Hanging skin
Klinisk navn: Cutis laxa
Wrinkled, redundant, inelastic and sagging skin.
Sammendrag
- Også kalt
- Loose and inelastic skin, Chalazoderma, Cutaneous laxity, Dermatochalasia, Dermatomegaly, Elastolysis, Generalised elastolysis, Generalized elastolysis, Hypoelastic skin, Inelastic skin, Lax skin, Loose skin, Skin laxity
- Kroppssystem
- Abnormality of the integument
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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-laxa.json"
page <- fromJSON(url)
page$trait$nameHanging skinHP:0000973
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Les genene knyttet til Hanging skin, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test47 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.
- Cutis LaxaReads 16 of these genesALDH18A1ATP6V1AEFEMP2FBLN5LTBP1LTBP4About this report →
- Pseudoxanthoma ElasticumReads 2 of these genesGGCXABCC6About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 3 of these genesWDR19IFT43WDR35About this report →
- ARC Syndrome 1 (VPS33B)Reads 1 of these genesVPS33BAbout this report →
Show 43 more reports
- ARC Syndrome 2 (VIPAS39)Reads 1 of these genesVIPAS39About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsReads 1 of these genesCHST3About this report →
- Congenital Disorders of GlycosylationReads 9 of these genesATP6AP1ATP6AP2ATP6V0A2B3GALT6MAN1B1ALG8About this report →
- Osteogenesis ImperfectaReads 5 of these genesNBASPYCR1ATP6V0A2XYLT2GORABAbout this report →
- Syndromic CraniosynostosisReads 4 of these genesWDR19MEGF8IFT43WDR35About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesPTENAbout this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A24About this report →
- Ehlers-Danlos SyndromeReads 3 of these genesFKBP14B4GALT7B3GALT6About this report →
- Rare Inherited Coagulation Factor DeficienciesReads 2 of these genesGGCXVKORC1About this report →
- Polycystic Kidney DiseaseReads 2 of these genesIFT140ALG8About this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7AAbout this report →
- Hereditary Arterial CalcificationReads 1 of these genesABCC6About this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Inherited Congenital Heart DefectsReads 2 of these genesELNFLNAAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesEZH2About this report →
- Polycystic Liver Disease (1 and 2)Reads 1 of these genesALG8About this report →
- Charcot-Marie-Tooth DiseaseReads 4 of these genesFBLN5AARS1EMILIN1ATP7AAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Intellectual DisabilityReads 6 of these genesATP6AP2MAN1B1NAA10ASXL1BCL11BRPS6KA3About this report →
- Spinal Muscular AtrophyReads 2 of these genesEMILIN1ATP7AAbout this report →
- GlaucomaReads 1 of these genesEFEMP1About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesXYLT1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 5 of these genesFBLN5AARS1EMILIN1GSNATP7AAbout this report →
- Hereditary Macular DystrophiesReads 1 of these genesEFEMP1About this report →
- Marfan Like SyndromesReads 1 of these genesFBN1About this report →
- Epilepsy (Full Panel)Reads 4 of these genesATP6AP2ATP6V1AAARS1FLNAAbout this report →
- Hereditary AmyloidosisReads 1 of these genesGSNAbout this report →
- Urea Cycle DisorderReads 1 of these genesSLC7A7About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Congenital Diarrhoeas & EnteropathiesReads 1 of these genesSPINT2About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesGSNAbout this report →
- Retinitis PigmentosaReads 2 of these genesIFT140IFT43About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesWDR19About this report →
- Inherited Neurodegenerative DisordersReads 4 of these genesALDH18A1AARS1EMILIN1ATP7AAbout this report →
- Other Inborn Errors of ImmunityReads 3 of these genesATP6AP1NBASBCL11BAbout this report →
- VitreoretinopathyReads 1 of these genesXYLT2About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesBCL11BAbout this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesALDH18A1About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesAARS1About this report →
Les genene knyttet til Hanging skin, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test63 gener knyttet til Hanging skin
Endringer i disse genene forårsaker sjeldne tilstander der Hanging skin 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 |
|---|---|---|
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Alltid | I 3 tilstander |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Alltid | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Alltid | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Alltid | I 2 tilstander |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Alltid | I 2 tilstander |
| FBLN5fibulin 5 | Alltid | I 4 tilstander |
| FKBP14FKBP prolyl isomerase 14 | Alltid | I 1 tilstand |
| GGCXgamma-glutamyl carboxylase | Alltid | I 3 tilstander |
| GNB2G protein subunit beta 2 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Alltid | I 2 tilstander |
| LTBP4latent transforming growth factor beta binding protein 4 | Alltid | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Alltid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Alltid | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Alltid | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alltid | I 2 tilstander |
| RMP64ribonuclease MRP subunit p64 | Alltid | I 1 tilstand |
| WDR19WD repeat domain 19 | Alltid | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Svært ofte (80–99 %) | I 3 tilstander |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Svært ofte (80–99 %) | I 2 tilstander |
| B4GALT7beta-1,4-galactosyltransferase 7 | Svært ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Svært ofte (80–99 %) | I 3 tilstander |
| FBN1fibrillin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Svært ofte (80–99 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Ofte (30–79 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ofte (30–79 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Ofte (30–79 %) | I 1 tilstand |
| GSNgelsolin | Ofte (30–79 %) | I 2 tilstander |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 2 tilstander |
| MEGF8multiple EGF like domains 8 | Ofte (30–79 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ofte (30–79 %) | I 2 tilstander |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Ofte (30–79 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
Vis 23 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ASXL1ASXL transcriptional regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Noen ganger (5–29 %) | I 1 tilstand |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| VKORC1vitamin K epoxide reductase complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Noen ganger (5–29 %) | I 1 tilstand |
| FLNAfilamin A | Sjelden (1–4%) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ikke registrert | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registrert | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Ikke registrert | I 1 tilstand |
| CD96CD96 molecule | Ikke registrert | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registrert | I 1 tilstand |
| GORABgolgin, RAB6 interacting | Ikke registrert | I 1 tilstand |
| IFT43intraflagellar transport 43 | Ikke registrert | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Ikke registrert | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Ikke registrert | I 1 tilstand |
| SLC7A7solute carrier family 7 member 7 | Ikke registrert | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Ikke registrert | I 1 tilstand |
| WDR35WD repeat domain 35 | 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.
Smalere egenskaper
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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From traits to your genome
Read the genes behind these traits in your own DNA.
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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