Požymis
Stiff lung or chest wall causing decreased lung volume
Klinikinis pavadinimas: 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.
Santrauka
- Taip pat vadinama
- Restrictive deficit on pulmonary function testing, Restrictive deficit on pulmonary function tests, Restrictive respiratory disease, Restrictive respiratory insufficiency, Restrictive respiratory syndrome, Spirometric restriction
- Kūno sistema
- Abnormality of the respiratory system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Stiff lung or chest wall causing decreased lung volume, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test96 genų susiję su Stiff lung or chest wall causing decreased lung volume
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Stiff lung or chest wall causing decreased lung volume. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| BORCS8BLOC-1 related complex subunit 8 | Visada | 1 ligoje |
| COPAcoat protein complex I subunit alpha | Visada | 1 ligoje |
| DMDdystrophin | Visada | 1 ligoje |
| DOCK11dedicator of cytokinesis 11 | Visada | 1 ligoje |
| FAM111BFAM111 trypsin like peptidase B | Visada | 1 ligoje |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Visada | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Visada | 1 ligoje |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Visada | 1 ligoje |
| HES7hes family bHLH transcription factor 7 | Visada | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Visada | 1 ligoje |
| SGCGsarcoglycan gamma | Visada | 1 ligoje |
| SNUPNsnurportin 1 | Visada | 1 ligoje |
| TOR1Atorsin family 1 member A | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 1 ligoje |
| WDR19WD repeat domain 19 | Visada | 1 ligoje |
| TSC1TSC complex subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| TSC2TSC complex subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| ADSS1adenylosuccinate synthase 1 | Dažnai (30–79%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Dažnai (30–79%) | 1 ligoje |
| ARSBarylsulfatase B | Dažnai (30–79%) | 1 ligoje |
| BAG3BAG cochaperone 3 | Dažnai (30–79%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Dažnai (30–79%) | 1 ligoje |
| CSF2RAcolony stimulating factor 2 receptor subunit alpha | Dažnai (30–79%) | 2 ligose |
| CSF2RBcolony stimulating factor 2 receptor subunit beta | Dažnai (30–79%) | 1 ligoje |
| DNAH11dynein axonemal heavy chain 11 | Dažnai (30–79%) | 1 ligoje |
| DNMT3BDNA methyltransferase 3 beta | Dažnai (30–79%) | 1 ligoje |
| DUX4double homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Dažnai (30–79%) | 1 ligoje |
| FRG1FSHD region gene 1 | Dažnai (30–79%) | 2 ligose |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Dažnai (30–79%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Dažnai (30–79%) | 2 ligose |
| HPS4HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | Dažnai (30–79%) | 1 ligoje |
| MESP2mesoderm posterior bHLH transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Dažnai (30–79%) | 1 ligoje |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Dažnai (30–79%) | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Dažnai (30–79%) | 1 ligoje |
| MYH7myosin heavy chain 7 | Dažnai (30–79%) | 2 ligose |
| MYO1Hmyosin IH | Dažnai (30–79%) | 1 ligoje |
| NKX2-1NK2 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 56 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| POGLUT1protein O-glucosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| PUS1pseudouridine synthase 1 | Dažnai (30–79%) | 1 ligoje |
| RFC4replication factor C subunit 4 | Dažnai (30–79%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Dažnai (30–79%) | 1 ligoje |
| SELENONselenoprotein N | Dažnai (30–79%) | 2 ligose |
| SFTPA1surfactant protein A1 | Dažnai (30–79%) | 1 ligoje |
| SLC34A2solute carrier family 34 member 2 | Dažnai (30–79%) | 2 ligose |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Dažnai (30–79%) | 1 ligoje |
| TTNtitin | Dažnai (30–79%) | 2 ligose |
| ABCD3ATP binding cassette subfamily D member 3 | Kartais (5–29%) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Kartais (5–29%) | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Kartais (5–29%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Kartais (5–29%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Kartais (5–29%) | 1 ligoje |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DNASE1L3deoxyribonuclease 1L3 | Kartais (5–29%) | 1 ligoje |
| ENGendoglin | Kartais (5–29%) | 1 ligoje |
| FBN1fibrillin 1 | Kartais (5–29%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Kartais (5–29%) | 1 ligoje |
| FKRPfukutin related protein | Kartais (5–29%) | 2 ligose |
| GDAP1ganglioside induced differentiation associated protein 1 | Kartais (5–29%) | 1 ligoje |
| GIPC1GIPC PDZ domain containing family member 1 | Kartais (5–29%) | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Kartais (5–29%) | 1 ligoje |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Kartais (5–29%) | 1 ligoje |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Kartais (5–29%) | 1 ligoje |
| IKZF1IKAROS family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| LRP12LDL receptor related protein 12 | Kartais (5–29%) | 2 ligose |
| LTBP3latent transforming growth factor beta binding protein 3 | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NLRP3NLR family pyrin domain containing 3 | Kartais (5–29%) | 1 ligoje |
| NOTCH2NLCnotch 2 N-terminal like C | Kartais (5–29%) | 1 ligoje |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Kartais (5–29%) | 1 ligoje |
| PRTN3proteinase 3 | Kartais (5–29%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Kartais (5–29%) | 1 ligoje |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Kartais (5–29%) | 1 ligoje |
| RILPL1Rab interacting lysosomal protein like 1 | Kartais (5–29%) | 1 ligoje |
| RNF168ring finger protein 168 | Kartais (5–29%) | 1 ligoje |
| RPA1replication protein A1 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Kartais (5–29%) | 2 ligose |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Retai (1–4 %) | 1 ligoje |
| ACP5acid phosphatase 5, tartrate resistant | Neužfiksuota | 1 ligoje |
| BTNL2butyrophilin like 2 | Neužfiksuota | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Neužfiksuota | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Neužfiksuota | 1 ligoje |
| DKC1dyskerin pseudouridine synthase 1 | Neužfiksuota | 1 ligoje |
| FLNBfilamin B | Neužfiksuota | 1 ligoje |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Neužfiksuota | 1 ligoje |
| GLB1galactosidase beta 1 | Neužfiksuota | 1 ligoje |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Neužfiksuota | 1 ligoje |
| MEGF10multiple EGF like domains 10 | Neužfiksuota | 1 ligoje |
| SLC12A6solute carrier family 12 member 6 | Neužfiksuota | 1 ligoje |
| STAC3SH3 and cysteine rich domain 3 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites