Træk
Stiff lung or chest wall causing decreased lung volume
Klinisk navn: 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.
Resumé
- Også kaldet
- Restrictive deficit on pulmonary function testing, Restrictive deficit on pulmonary function tests, Restrictive respiratory disease, Restrictive respiratory insufficiency, Restrictive respiratory syndrome, Spirometric restriction
- Kropssystem
- Abnormality of the respiratory system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test96 gener knyttet til Stiff lung or chest wall causing decreased lung volume
Ændringer i disse gener forårsager sjældne tilstande, hvor Stiff lung or chest wall causing decreased lung volume ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| BORCS8BLOC-1 related complex subunit 8 | Altid | I 1 tilstand |
| COPAcoat protein complex I subunit alpha | Altid | I 1 tilstand |
| DMDdystrophin | Altid | I 1 tilstand |
| DOCK11dedicator of cytokinesis 11 | Altid | I 1 tilstand |
| FAM111BFAM111 trypsin like peptidase B | Altid | I 1 tilstand |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Altid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 1 tilstand |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Altid | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Altid | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altid | I 1 tilstand |
| SGCGsarcoglycan gamma | Altid | I 1 tilstand |
| SNUPNsnurportin 1 | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| WDR19WD repeat domain 19 | Altid | I 1 tilstand |
| TSC1TSC complex subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ADSS1adenylosuccinate synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 1 tilstand |
| ARSBarylsulfatase B | Ofte (30–79 %) | I 1 tilstand |
| BAG3BAG cochaperone 3 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 1 tilstand |
| CSF2RAcolony stimulating factor 2 receptor subunit alpha | Ofte (30–79 %) | I 2 tilstande |
| CSF2RBcolony stimulating factor 2 receptor subunit beta | Ofte (30–79 %) | I 1 tilstand |
| DNAH11dynein axonemal heavy chain 11 | Ofte (30–79 %) | I 1 tilstand |
| DNMT3BDNA methyltransferase 3 beta | Ofte (30–79 %) | I 1 tilstand |
| DUX4double homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Ofte (30–79 %) | I 1 tilstand |
| FRG1FSHD region gene 1 | Ofte (30–79 %) | I 2 tilstande |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ofte (30–79 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 2 tilstande |
| HPS4HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| MESP2mesoderm posterior bHLH transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Ofte (30–79 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ofte (30–79 %) | I 1 tilstand |
| MYH7myosin heavy chain 7 | Ofte (30–79 %) | I 2 tilstande |
| MYO1Hmyosin IH | Ofte (30–79 %) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
Vis 56 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| POGLUT1protein O-glucosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| RFC4replication factor C subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Ofte (30–79 %) | I 1 tilstand |
| SELENONselenoprotein N | Ofte (30–79 %) | I 2 tilstande |
| SFTPA1surfactant protein A1 | Ofte (30–79 %) | I 1 tilstand |
| SLC34A2solute carrier family 34 member 2 | Ofte (30–79 %) | I 2 tilstande |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TTNtitin | Ofte (30–79 %) | I 2 tilstande |
| ABCD3ATP binding cassette subfamily D member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Nogle gange (5–29 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNASE1L3deoxyribonuclease 1L3 | Nogle gange (5–29 %) | I 1 tilstand |
| ENGendoglin | Nogle gange (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Nogle gange (5–29 %) | I 2 tilstande |
| GDAP1ganglioside induced differentiation associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GIPC1GIPC PDZ domain containing family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IKZF1IKAROS family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Nogle gange (5–29 %) | I 2 tilstande |
| LTBP3latent transforming growth factor beta binding protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Nogle gange (5–29 %) | I 1 tilstand |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PRTN3proteinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Nogle gange (5–29 %) | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RILPL1Rab interacting lysosomal protein like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF168ring finger protein 168 | Nogle gange (5–29 %) | I 1 tilstand |
| RPA1replication protein A1 | Nogle gange (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Nogle gange (5–29 %) | I 2 tilstande |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Sjældent (1–4%) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Ikke registreret | I 1 tilstand |
| BTNL2butyrophilin like 2 | Ikke registreret | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ikke registreret | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ikke registreret | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Ikke registreret | I 1 tilstand |
| FLNBfilamin B | Ikke registreret | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Ikke registreret | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registreret | I 1 tilstand |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Ikke registreret | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Ikke registreret | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Ikke registreret | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger