Tunnus
Stiff lung or chest wall causing decreased lung volume
Kliiniline nimetus: Restrictive ventilatory defect
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Kokkuvõte
- Teised nimetused
- Restrictive deficit on pulmonary function testing, Restrictive deficit on pulmonary function tests, Restrictive respiratory disease, Restrictive respiratory insufficiency, Restrictive respiratory syndrome, Spirometric restriction
- Kehasüsteem
- Abnormality of the respiratory system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Stiff lung or chest wall causing decreased lung volume, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test96 geeni on seotud tunnusega Stiff lung or chest wall causing decreased lung volume
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Stiff lung or chest wall causing decreased lung volume. 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 |
|---|---|---|
| BORCS8BLOC-1 related complex subunit 8 | Alati | Esineb 1 haiguses |
| COPAcoat protein complex I subunit alpha | Alati | Esineb 1 haiguses |
| DMDdystrophin | Alati | Esineb 1 haiguses |
| DOCK11dedicator of cytokinesis 11 | Alati | Esineb 1 haiguses |
| FAM111BFAM111 trypsin like peptidase B | Alati | Esineb 1 haiguses |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Alati | Esineb 1 haiguses |
| FLVCR1FLVCR choline and heme transporter 1 | Alati | Esineb 1 haiguses |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Alati | Esineb 1 haiguses |
| HES7hes family bHLH transcription factor 7 | Alati | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Alati | Esineb 1 haiguses |
| SGCGsarcoglycan gamma | Alati | Esineb 1 haiguses |
| SNUPNsnurportin 1 | Alati | Esineb 1 haiguses |
| TOR1Atorsin family 1 member A | Alati | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Alati | Esineb 1 haiguses |
| WDR19WD repeat domain 19 | Alati | Esineb 1 haiguses |
| TSC1TSC complex subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TSC2TSC complex subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADSS1adenylosuccinate synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Sageli (30–79%) | Esineb 1 haiguses |
| ARSBarylsulfatase B | Sageli (30–79%) | Esineb 1 haiguses |
| BAG3BAG cochaperone 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sageli (30–79%) | Esineb 1 haiguses |
| CSF2RAcolony stimulating factor 2 receptor subunit alpha | Sageli (30–79%) | Esineb 2 haiguses |
| CSF2RBcolony stimulating factor 2 receptor subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| DNAH11dynein axonemal heavy chain 11 | Sageli (30–79%) | Esineb 1 haiguses |
| DNMT3BDNA methyltransferase 3 beta | Sageli (30–79%) | Esineb 1 haiguses |
| DUX4double homeobox 4 | Sageli (30–79%) | Esineb 1 haiguses |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Sageli (30–79%) | Esineb 1 haiguses |
| FRG1FSHD region gene 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sageli (30–79%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sageli (30–79%) | Esineb 2 haiguses |
| HPS4HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MESP2mesoderm posterior bHLH transcription factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MYH7myosin heavy chain 7 | Sageli (30–79%) | Esineb 2 haiguses |
| MYO1Hmyosin IH | Sageli (30–79%) | Esineb 1 haiguses |
| NKX2-1NK2 homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 56 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| POGLUT1protein O-glucosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PUS1pseudouridine synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RFC4replication factor C subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Sageli (30–79%) | Esineb 1 haiguses |
| SELENONselenoprotein N | Sageli (30–79%) | Esineb 2 haiguses |
| SFTPA1surfactant protein A1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC34A2solute carrier family 34 member 2 | Sageli (30–79%) | Esineb 2 haiguses |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TTNtitin | Sageli (30–79%) | Esineb 2 haiguses |
| ABCD3ATP binding cassette subfamily D member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADAMTSL2ADAMTS like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BICD2BICD cargo adaptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFAP410cilia and flagella associated protein 410 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNASE1L3deoxyribonuclease 1L3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ENGendoglin | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| GDAP1ganglioside induced differentiation associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GIPC1GIPC PDZ domain containing family member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IKZF1IKAROS family zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP12LDL receptor related protein 12 | Mõnikord (5–29%) | Esineb 2 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NLRP3NLR family pyrin domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH2NLCnotch 2 N-terminal like C | Mõnikord (5–29%) | Esineb 1 haiguses |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRTN3proteinase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RILPL1Rab interacting lysosomal protein like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF168ring finger protein 168 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPA1replication protein A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAPPC11trafficking protein particle complex subunit 11 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Harva (1–4%) | Esineb 1 haiguses |
| ACP5acid phosphatase 5, tartrate resistant | Pole registreeritud | Esineb 1 haiguses |
| BTNL2butyrophilin like 2 | Pole registreeritud | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| DKC1dyskerin pseudouridine synthase 1 | Pole registreeritud | Esineb 1 haiguses |
| FLNBfilamin B | Pole registreeritud | Esineb 1 haiguses |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Pole registreeritud | Esineb 1 haiguses |
| GLB1galactosidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| MEGF10multiple EGF like domains 10 | Pole registreeritud | Esineb 1 haiguses |
| SLC12A6solute carrier family 12 member 6 | Pole registreeritud | Esineb 1 haiguses |
| STAC3SH3 and cysteine rich domain 3 | 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 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast