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Logi sisseKüsiSekveneeri oma genoom↗
Tunnus
Hanging skin
Kliiniline nimetus: Cutis laxa
Wrinkled, redundant, inelastic and sagging skin.
Kokkuvõte
- Teised nimetused
- Loose and inelastic skin, Chalazoderma, Cutaneous laxity, Dermatochalasia, Dermatomegaly, Elastolysis, Generalised elastolysis, Generalized elastolysis, Hypoelastic skin, Inelastic skin, Lax skin, Loose skin, Skin laxity
- Kehasüsteem
- Abnormality of the integument
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/cutis-laxa.json"
page <- fromJSON(url)
page$trait$nameHanging skinHP:0000973
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Hanging skin-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma 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 →
Lugege välja geenid, mis on seotud Hanging skin-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test63 geeni on seotud tunnusega Hanging skin
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Hanging skin. 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 |
|---|---|---|
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Alati | Esineb 3 haiguses |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Alati | Esineb 1 haiguses |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Alati | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Alati | Esineb 2 haiguses |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Alati | Esineb 2 haiguses |
| FBLN5fibulin 5 | Alati | Esineb 4 haiguses |
| FKBP14FKBP prolyl isomerase 14 | Alati | Esineb 1 haiguses |
| GGCXgamma-glutamyl carboxylase | Alati | Esineb 3 haiguses |
| GNB2G protein subunit beta 2 | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 1 haiguses |
| LTBP1latent transforming growth factor beta binding protein 1 | Alati | Esineb 2 haiguses |
| LTBP4latent transforming growth factor beta binding protein 4 | Alati | Esineb 1 haiguses |
| NBASNBAS subunit of NRZ tethering complex | Alati | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Alati | Esineb 1 haiguses |
| PTDSS1phosphatidylserine synthase 1 | Alati | Esineb 1 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alati | Esineb 2 haiguses |
| RMP64ribonuclease MRP subunit p64 | Alati | Esineb 1 haiguses |
| WDR19WD repeat domain 19 | Alati | Esineb 1 haiguses |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| B4GALT7beta-1,4-galactosyltransferase 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ELNelastin | Väga sageli (80–99%) | Esineb 3 haiguses |
| FBN1fibrillin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC25A24solute carrier family 25 member 24 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ABCC6ATP binding cassette subfamily C member 6 | Sageli (30–79%) | Esineb 1 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Sageli (30–79%) | Esineb 1 haiguses |
| EMILIN1elastin microfibril interfacer 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Sageli (30–79%) | Esineb 1 haiguses |
| GSNgelsolin | Sageli (30–79%) | Esineb 2 haiguses |
| MAN1B1mannosidase alpha class 1B member 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MEGF8multiple EGF like domains 8 | Sageli (30–79%) | Esineb 1 haiguses |
| MLXIPLMLX interacting protein like | Sageli (30–79%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sageli (30–79%) | Esineb 2 haiguses |
| PTENphosphatase and tensin homolog | Sageli (30–79%) | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC2A10solute carrier family 2 member 10 | Sageli (30–79%) | Esineb 1 haiguses |
| XYLT1xylosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| XYLT2xylosyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 23 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ASXL1ASXL transcriptional regulator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IPO8importin 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| VKORC1vitamin K epoxide reductase complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS33BVPS33B late endosome and lysosome associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLNAfilamin A | Harva (1–4%) | Esineb 1 haiguses |
| ATP7AATPase copper transporting alpha | Pole registreeritud | Esineb 1 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| BCL11BBCL11 transcription factor B | Pole registreeritud | Esineb 1 haiguses |
| CD96CD96 molecule | Pole registreeritud | Esineb 1 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| GORABgolgin, RAB6 interacting | Pole registreeritud | Esineb 1 haiguses |
| IFT43intraflagellar transport 43 | Pole registreeritud | Esineb 1 haiguses |
| RIN2Ras and Rab interactor 2 | Pole registreeritud | Esineb 1 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Pole registreeritud | Esineb 1 haiguses |
| SLC7A7solute carrier family 7 member 7 | Pole registreeritud | Esineb 1 haiguses |
| SRD5A3steroid 5 alpha-reductase 3 | Pole registreeritud | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | 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.
Kitsamad tunnused
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 2026.10.19-9814e911.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
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.
Alates 449 $
Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
