AtlasTunnus
Fatty deposits in skin around the eyes
Kliiniline nimetus: Xanthelasma
The presence of xanthomata in the skin of the eyelid.
Kokkuvõte
- Teised nimetused
- Fatty deposits on eyelids, Xanthelasma palpebrarum, Xanthoma
AtlasSelle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/xanthelasma.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Fatty deposits in skin around the eyes-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test24 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.
- HyperlipidemiaReads 6 of these genesABCG8APOELPLAPOBLDLRPCSK9About this report →
- Familial HypercholesterolemiaReads 3 of these genesAPOBLDLRPCSK9About this report →
- Hereditary HypolipoproteinemiasReads 3 of these genesABCA1APOA1APOBAbout this report →
- Cerebrotendinous XanthomatosisReads 1 of these genesCYP27A1About this report →
Show 20 more reports
- Hereditary FibromatosesReads 1 of these genesPDGFRBAbout this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 1 of these genesSTAT3About this report →
- Glycogen Storage DiseaseReads 2 of these genesSLC37A4G6PC1About this report →
- Alzheimer diseaseReads 1 of these genesAPOEAbout this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 1 of these genesGHRAbout this report →
- Basal Ganglia CalcificationReads 1 of these genesPDGFRBAbout this report →
- Hyper-IgE SyndromeReads 1 of these genesSTAT3About this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 1 of these genesIL12RB1About this report →
- Hereditary AmyloidosisReads 1 of these genesAPOA1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesCYP27A1TTPAAbout this report →
- Autoimmune DiseaseReads 1 of these genesSTAT3About this report →
- Noonan SyndromeReads 1 of these genesSPRED1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 3 of these genesAPOA1CYP27A1TTPAAbout this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesTNPO3About this report →
- Inherited Neurodegenerative DisordersReads 3 of these genesAPOECYP27A1TTPAAbout this report →
- Lysosomal Storage DiseaseReads 1 of these genesCYP27A1About this report →
- Hypertrophic CardiomyopathyReads 1 of these genesSPRED1About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesCYP27A1About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesSLC37A4About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesSTAT3About this report →
Lugege välja geenid, mis on seotud Fatty deposits in skin around the eyes-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test27 geeni on seotud tunnusega Fatty deposits in skin around the eyes
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Fatty deposits in skin around the eyes. 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 |
|---|---|---|
| ABCG8ATP binding cassette subfamily G member 8 | Alati | Esineb 1 haiguses |
| ABCA1ATP binding cassette subfamily A member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| APOA1apolipoprotein A1 | Sageli (30–79%) | Esineb 1 haiguses |
| APOEapolipoprotein E | Sageli (30–79%) | Esineb 1 haiguses |
| IL12Ainterleukin 12A | Sageli (30–79%) | Esineb 1 haiguses |
| IL12RB1interleukin 12 receptor subunit beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IRF5interferon regulatory factor 5 | Sageli (30–79%) | Esineb 1 haiguses |
| MMEL1membrane metalloendopeptidase like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Sageli (30–79%) | Esineb 1 haiguses |
| POU2AF1POU class 2 homeobox associating factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SPIBSpi-B transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| STAT3signal transducer and activator of transcription 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TNFSF15TNF superfamily member 15 | Sageli (30–79%) | Esineb 1 haiguses |
| TNPO3transportin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| LPLlipoprotein lipase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC37A4solute carrier family 37 member 4 | Mõnikord (5–29%) | Esineb 3 haiguses |
| SPRED1sprouty related EVH1 domain containing 1 | Harva (1–4%) | Esineb 1 haiguses |
| APOA2apolipoprotein A2 | Pole registreeritud | Esineb 1 haiguses |
| APOBapolipoprotein B | Pole registreeritud | Esineb 1 haiguses |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Pole registreeritud | Esineb 1 haiguses |
| EPHX2epoxide hydrolase 2 | Pole registreeritud | Esineb 1 haiguses |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| GHRgrowth hormone receptor | Pole registreeritud | Esineb 1 haiguses |
| LDLRlow density lipoprotein receptor | Pole registreeritud | Esineb 1 haiguses |
| PCSK9proprotein convertase subtilisin/kexin type 9 | Pole registreeritud | Esineb 1 haiguses |
| PPP1R17protein phosphatase 1 regulatory subunit 17 | Pole registreeritud | Esineb 1 haiguses |
| TTPAalpha tocopherol transfer protein | 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.
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.
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
