AtlasTunnus
Facial puffiness
Kliiniline nimetus: Facial edema
Kokkuvõte
- Teised nimetused
- Facial swelling, Facial oedema, Swelling of the face
AtlasSelle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/facial-edema.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Facial puffiness-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test28 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.
- Congenital HypothyroidismReads 13 of these genesFOXE1NKX2-1NKX2-5PAX8SLC26A4TSHBAbout this report →
- Thyroid CancerReads 12 of these genesNKX2-5PAX8SLC26A4TSHBTSHRALBAbout this report →
- Hereditary AngioedemaReads 3 of these genesSERPING1F12PLGAbout this report →
- HyperthyroidismReads 2 of these genesTSHRALBAbout this report →
Show 24 more reports
- Rothmund-Thomson SyndromeReads 2 of these genesANAPC1RECQL4About this report →
- Congenital AnalbuminaemiaReads 1 of these genesALBAbout this report →
- Congenital Factor XII DeficiencyReads 1 of these genesF12About this report →
- High-Molecular-Weight Kininogen DeficiencyReads 1 of these genesKNG1About this report →
- Pendred SyndromeReads 1 of these genesSLC26A4About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 5 of these genesHESX1LHX3LHX4POU1F1PROP1About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 3 of these genesEPHB4GJC2PIEZO1About this report →
- Hypogonadotropic HypogonadismReads 5 of these genesHESX1LHX3LHX4POU1F1PROP1About this report →
- Tetralogy of FallotReads 1 of these genesNKX2-5About this report →
- Hereditary Vascular MalformationsReads 1 of these genesEPHB4About this report →
- Inherited Fibrinolytic DisordersReads 1 of these genesPLGAbout this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesNKX2-5About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesNEU1About this report →
- Hyper-IgE SyndromeReads 1 of these genesSPINK5About this report →
- Red Blood Cell Membrane DisordersReads 1 of these genesPIEZO1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesNKX2-5About this report →
- Syndromic CraniosynostosisReads 1 of these genesRECQL4About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesGJC2About this report →
- Lysosomal Storage DiseaseReads 1 of these genesNEU1About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesGJC2About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesGJC2About this report →
- Hearing Loss and DeafnessReads 1 of these genesSLC26A4About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesSPINK5About this report →
- Inherited Neurodegenerative DisordersReads 1 of these genesGJC2About this report →
Lugege välja geenid, mis on seotud Facial puffiness-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test35 geeni on seotud tunnusega Facial puffiness
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Facial puffiness. 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 |
|---|---|---|
| MYOFmyoferlin | Alati | Esineb 1 haiguses |
| SPINK5serine peptidase inhibitor Kazal type 5 | Alati | Esineb 1 haiguses |
| KNG1kininogen 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SERPING1serpin family G member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| XPNPEP2X-prolyl aminopeptidase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FOXE1forkhead box E1 | Sageli (30–79%) | Esineb 1 haiguses |
| HESX1HESX homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LHX3LIM homeobox 3 | Sageli (30–79%) | Esineb 1 haiguses |
| LHX4LIM homeobox 4 | Sageli (30–79%) | Esineb 1 haiguses |
| NKX2-1NK2 homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NKX2-5NK2 homeobox 5 | Sageli (30–79%) | Esineb 1 haiguses |
| PAX8paired box 8 | Sageli (30–79%) | Esineb 1 haiguses |
| POU1F1POU class 1 homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PROP1PROP paired-like homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC26A4solute carrier family 26 member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TSHBthyroid stimulating hormone subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| TSHRthyroid stimulating hormone receptor | Sageli (30–79%) | Esineb 1 haiguses |
| ALBalbumin | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANAPC1anaphase promoting complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DUOX2dual oxidase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DUOXA2dual oxidase maturation factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EPHB4EPH receptor B4 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GJC2gap junction protein gamma 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IYDiodotyrosine deiodinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC5A5solute carrier family 5 member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGthyroglobulin | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPOthyroid peroxidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HAVCR2hepatitis A virus cellular receptor 2 | Harva (1–4%) | Esineb 1 haiguses |
| ANGPT1angiopoietin 1 | Pole registreeritud | Esineb 1 haiguses |
| F12coagulation factor XII | Pole registreeritud | Esineb 1 haiguses |
| HS3ST6heparan sulfate-glucosamine 3-sulfotransferase 6 | Pole registreeritud | Esineb 1 haiguses |
| NEU1neuraminidase 1 | Pole registreeritud | Esineb 1 haiguses |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Pole registreeritud | Esineb 1 haiguses |
| PLGplasminogen | 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.
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
