Tunnus
Collapsed lung
Kliiniline nimetus: Pneumothorax
Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.
Kokkuvõte
- Kehasüsteem
- Abnormality of the respiratory system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Collapsed lung, and the rest of your genome, with one test.
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Telli oma Genome Test66 geeni on seotud tunnusega Collapsed lung
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Collapsed lung. 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 |
|---|---|---|
| COL3A1collagen type III alpha 1 chain | Alati | Esineb 2 haiguses |
| SLC31A1solute carrier family 31 member 1 | Alati | Esineb 1 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| ZFPM2zinc finger protein, FOG family member 2 | Alati | Esineb 1 haiguses |
| FLCNfolliculin | Väga sageli (80–99%) | Esineb 2 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Sageli (30–79%) | Esineb 2 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Sageli (30–79%) | Esineb 2 haiguses |
| FBLN5fibulin 5 | Sageli (30–79%) | Esineb 1 haiguses |
| LTBP1latent transforming growth factor beta binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TSC1TSC complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TSC2TSC complex subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ACTA2actin alpha 2, smooth muscle | Mõnikord (5–29%) | Esineb 1 haiguses |
| BTNL2butyrophilin like 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DSEdermatan sulfate epimerase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELNelastin | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXE3forkhead box E3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IPO8importin 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LOXlysyl oxidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAT2Amethionine adenosyltransferase 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| MFAP5microfibril associated protein 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYH11myosin heavy chain 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYLKmyosin light chain kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRDM10PR/SET domain 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKG1protein kinase cGMP-dependent 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC34A2solute carrier family 34 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD2SMAD family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD3SMAD family member 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SMAD4SMAD family member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFB2transforming growth factor beta 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TGFB3transforming growth factor beta 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFBR1transforming growth factor beta receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| THSD4thrombospondin type 1 domain containing 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TXNDC15thioredoxin domain containing 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEACAM3CEA cell adhesion molecule 3 | Harva (1–4%) | Esineb 1 haiguses |
Näita veel 26 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CEACAM6CEA cell adhesion molecule 6 | Harva (1–4%) | Esineb 1 haiguses |
| CFTRCF transmembrane conductance regulator | Harva (1–4%) | Esineb 1 haiguses |
| CLCA4chloride channel accessory 4 | Harva (1–4%) | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Harva (1–4%) | Esineb 1 haiguses |
| DCTN4dynactin subunit 4 | Harva (1–4%) | Esineb 1 haiguses |
| EDNRAendothelin receptor type A | Harva (1–4%) | Esineb 1 haiguses |
| EXT1exostosin glycosyltransferase 1 | Harva (1–4%) | Esineb 1 haiguses |
| EXT2exostosin glycosyltransferase 2 | Harva (1–4%) | Esineb 1 haiguses |
| GCLCglutamate-cysteine ligase catalytic subunit | Harva (1–4%) | Esineb 1 haiguses |
| GSTM3glutathione S-transferase mu 3 | Harva (1–4%) | Esineb 1 haiguses |
| HFEhomeostatic iron regulator | Harva (1–4%) | Esineb 1 haiguses |
| HMOX1heme oxygenase 1 | Harva (1–4%) | Esineb 1 haiguses |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Harva (1–4%) | Esineb 1 haiguses |
| LAMA3laminin subunit alpha 3 | Harva (1–4%) | Esineb 1 haiguses |
| LAMB3laminin subunit beta 3 | Harva (1–4%) | Esineb 1 haiguses |
| LAMC2laminin subunit gamma 2 | Harva (1–4%) | Esineb 1 haiguses |
| MIFmacrophage migration inhibitory factor | Harva (1–4%) | Esineb 1 haiguses |
| SERPINA1serpin family A member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC11A1solute carrier family 11 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC26A9solute carrier family 26 member 9 | Harva (1–4%) | Esineb 1 haiguses |
| SLC6A14solute carrier family 6 member 14 | Harva (1–4%) | Esineb 1 haiguses |
| SLC9A3solute carrier family 9 member A3 | Harva (1–4%) | Esineb 1 haiguses |
| STX1Asyntaxin 1A | Harva (1–4%) | Esineb 1 haiguses |
| TGFB1transforming growth factor beta 1 | Harva (1–4%) | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| SLC25A24solute carrier family 25 member 24 | 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 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast