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Trait
Stiff lung or chest wall causing decreased lung volume
Nom clinique : 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.
Résumé
- Aussi appelé
- Restrictive deficit on pulmonary function testing, Restrictive deficit on pulmonary function tests, Restrictive respiratory disease, Restrictive respiratory insufficiency, Restrictive respiratory syndrome, Spirometric restriction
- Système corporel
- Abnormality of the respiratory system
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Cette page en données
Ajoutez .json à l'adresse de la page, ou demandez application/json, pour la lire au format JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/restrictive-ventilatory-defect.json"
page <- fromJSON(url)
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Découvrez les gènes liés à Stiff lung or chest wall causing decreased lung volume, ainsi que le reste de votre génome, grâce à un seul test.
À partir de 449 $Livraison gratuite · Résultats sous 6 à 8 semaines
Obtenir mon Genome Test66 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.
- Tuberous SclerosisReads 2 of these genesTSC1TSC2About this report →
- Distal MyopathiesReads 5 of these genesADSS1MYH7TTNGIPC1LRP12About this report →
- Limb-Girdle Muscular DystrophyReads 6 of these genesSGCGSNUPNPOGLUT1TTNFKRPTRAPPC11About this report →
- Bailey-Bloch Congenital MyopathyReads 1 of these genesSTAC3About this report →
Show 62 more reports
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)Reads 1 of these genesDMDAbout this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- MEGF10-Related MyopathyReads 1 of these genesMEGF10About this report →
- Mucopolysaccharidosis Type IVA (Morquio A Syndrome)Reads 1 of these genesGALNSAbout this report →
- Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)Reads 1 of these genesARSBAbout this report →
- Pulmonary Alveolar MicrolithiasisReads 1 of these genesSLC34A2About this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Abnormal Calcification TypeReads 1 of these genesDDR2About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- Dilated CardiomyopathyReads 6 of these genesDMDSGCGBAG3MYH7SYNE1TTNAbout this report →
- Myofibrillar MyopathiesReads 3 of these genesBAG3TTNPYROXD1About this report →
- Surfactant Metabolism DysfunctionReads 2 of these genesCSF2RACSF2RBAbout this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 1 of these genesCOL2A1About this report →
- Congenital MyopathiesReads 3 of these genesMYH7SELENONTTNAbout this report →
- Familial Pulmonary FibrosisReads 2 of these genesSFTPA1RPA1About this report →
- Dyskeratosis CongenitaReads 3 of these genesDNMT3BRPA1DKC1About this report →
- Hermansky-Pudlak SyndromeReads 2 of these genesHPS4HPS1About this report →
- Type I InterferonopathiesReads 2 of these genesCOPAACP5About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Congenital Muscular DystrophiesReads 3 of these genesSNUPNSELENONFKRPAbout this report →
- Lysosomal Storage DiseaseReads 4 of these genesARSBGNPTABGALNSGLB1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 3 of these genesCOPADOCK11ACP5About this report →
- Congenital Disorders of GlycosylationReads 5 of these genesHES7MESP2POGLUT1B3GALT6FKRPAbout this report →
- Achondrogenesis panelReads 1 of these genesCOL2A1About this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesENGAbout this report →
- Autoimmune DiseaseReads 2 of these genesCTLA4DNASE1L3About this report →
- Ehlers-Danlos SyndromeReads 2 of these genesB3GALT6PLOD1About this report →
- Syndromic CraniosynostosisReads 2 of these genesWDR19FGFR3About this report →
- Hereditary Periodic Fever SyndromesReads 1 of these genesNLRP3About this report →
- Systemic Lupus ErythematosusReads 1 of these genesDNASE1L3About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesFLVCR1SYNE1RNF168About this report →
- Spinal Muscular AtrophyReads 2 of these genesCHCHD10BICD2About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesCTLA4About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR19About this report →
- IPEX Syndrome and Other TregopathiesReads 1 of these genesCTLA4About this report →
- Left Ventricular NoncompactionReads 1 of these genesMYH7About this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesPUS1About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesCOL2A1About this report →
- Common Variable Immunodeficiency (Monogenic CVID)Reads 1 of these genesIKZF1About this report →
- Marfan Like SyndromesReads 1 of these genesFBN1About this report →
- Inherited Neurodegenerative DisordersReads 6 of these genesFLVCR1CHCHD10SYNE1BICD2RNF168SLC12A6About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Frontotemporal DementiaReads 1 of these genesCHCHD10About this report →
- Rare Hereditary Peripheral NeuropathiesReads 4 of these genesCHCHD10BICD2GDAP1SLC12A6About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesGDAP1SLC12A6About this report →
- Congenital HypothyroidismReads 1 of these genesNKX2-1About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesWDR19About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesALMS1About this report →
- VitreoretinopathyReads 1 of these genesCOL2A1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesCHCHD10About this report →
- Diabetes MellitusReads 1 of these genesMT-TL1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesTOR1AAbout this report →
- Primary Ciliary DyskinesiaReads 1 of these genesDNAH11About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesSMCHD1About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesCTLA4IKZF1About this report →
- Hypertrophic CardiomyopathyReads 1 of these genesMYH7About this report →
- Retinitis PigmentosaReads 1 of these genesFLVCR1About this report →
- Intellectual DisabilityReads 1 of these genesNAA10About this report →
Découvrez les gènes liés à Stiff lung or chest wall causing decreased lung volume, ainsi que le reste de votre génome, grâce à un seul test.
À partir de 449 $Livraison gratuite · Résultats sous 6 à 8 semaines
Obtenir mon Genome Test96 gènes associés à Stiff lung or chest wall causing decreased lung volume
Des modifications de ces gènes provoquent des affections rares dans lesquelles Stiff lung or chest wall causing decreased lung volume est observé. La plupart des personnes présentant ce trait n'ont aucune de ces affections, et un gène figurant sur cette liste ne dit rien du génome de quiconque.
| Gène | Fréquence d'observation | Affections |
|---|---|---|
| BORCS8BLOC-1 related complex subunit 8 | Toujours | Dans 1 affection |
| COPAcoat protein complex I subunit alpha | Toujours | Dans 1 affection |
| DMDdystrophin | Toujours | Dans 1 affection |
| DOCK11dedicator of cytokinesis 11 | Toujours | Dans 1 affection |
| FAM111BFAM111 trypsin like peptidase B | Toujours | Dans 1 affection |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Toujours | Dans 1 affection |
| FLVCR1FLVCR choline and heme transporter 1 | Toujours | Dans 1 affection |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Toujours | Dans 1 affection |
| HES7hes family bHLH transcription factor 7 | Toujours | Dans 1 affection |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Toujours | Dans 1 affection |
| SGCGsarcoglycan gamma | Toujours | Dans 1 affection |
| SNUPNsnurportin 1 | Toujours | Dans 1 affection |
| TOR1Atorsin family 1 member A | Toujours | Dans 1 affection |
| UNC13Aunc-13 homolog A | Toujours | Dans 1 affection |
| WDR19WD repeat domain 19 | Toujours | Dans 1 affection |
| TSC1TSC complex subunit 1 | Très souvent (80–99 %) | Dans 1 affection |
| TSC2TSC complex subunit 2 | Très souvent (80–99 %) | Dans 1 affection |
| ADSS1adenylosuccinate synthase 1 | Souvent (30–79 %) | Dans 1 affection |
| ALMS1ALMS1 centrosome and basal body associated protein | Souvent (30–79 %) | Dans 1 affection |
| ARSBarylsulfatase B | Souvent (30–79 %) | Dans 1 affection |
| BAG3BAG cochaperone 3 | Souvent (30–79 %) | Dans 1 affection |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Souvent (30–79 %) | Dans 1 affection |
| CSF2RAcolony stimulating factor 2 receptor subunit alpha | Souvent (30–79 %) | Dans 2 affections |
| CSF2RBcolony stimulating factor 2 receptor subunit beta | Souvent (30–79 %) | Dans 1 affection |
| DNAH11dynein axonemal heavy chain 11 | Souvent (30–79 %) | Dans 1 affection |
| DNMT3BDNA methyltransferase 3 beta | Souvent (30–79 %) | Dans 1 affection |
| DUX4double homeobox 4 | Souvent (30–79 %) | Dans 1 affection |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Souvent (30–79 %) | Dans 1 affection |
| FRG1FSHD region gene 1 | Souvent (30–79 %) | Dans 2 affections |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Souvent (30–79 %) | Dans 1 affection |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Souvent (30–79 %) | Dans 2 affections |
| HPS4HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | Souvent (30–79 %) | Dans 1 affection |
| MESP2mesoderm posterior bHLH transcription factor 2 | Souvent (30–79 %) | Dans 1 affection |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Souvent (30–79 %) | Dans 1 affection |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Souvent (30–79 %) | Dans 1 affection |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Souvent (30–79 %) | Dans 1 affection |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Souvent (30–79 %) | Dans 1 affection |
| MYH7myosin heavy chain 7 | Souvent (30–79 %) | Dans 2 affections |
| MYO1Hmyosin IH | Souvent (30–79 %) | Dans 1 affection |
| NKX2-1NK2 homeobox 1 | Souvent (30–79 %) | Dans 1 affection |
Afficher 56 gènes de plus
| Gène | Fréquence d'observation | Affections |
|---|---|---|
| POGLUT1protein O-glucosyltransferase 1 | Souvent (30–79 %) | Dans 1 affection |
| PUS1pseudouridine synthase 1 | Souvent (30–79 %) | Dans 1 affection |
| RFC4replication factor C subunit 4 | Souvent (30–79 %) | Dans 1 affection |
| RNU4ATACRNA, U4atac small nuclear | Souvent (30–79 %) | Dans 1 affection |
| SELENONselenoprotein N | Souvent (30–79 %) | Dans 2 affections |
| SFTPA1surfactant protein A1 | Souvent (30–79 %) | Dans 1 affection |
| SLC34A2solute carrier family 34 member 2 | Souvent (30–79 %) | Dans 2 affections |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Souvent (30–79 %) | Dans 1 affection |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Souvent (30–79 %) | Dans 1 affection |
| TTNtitin | Souvent (30–79 %) | Dans 2 affections |
| ABCD3ATP binding cassette subfamily D member 3 | Parfois (5–29 %) | Dans 1 affection |
| ADAMTSL2ADAMTS like 2 | Parfois (5–29 %) | Dans 1 affection |
| B3GALT6beta-1,3-galactosyltransferase 6 | Parfois (5–29 %) | Dans 1 affection |
| BICD2BICD cargo adaptor 2 | Parfois (5–29 %) | Dans 1 affection |
| CFAP410cilia and flagella associated protein 410 | Parfois (5–29 %) | Dans 1 affection |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Parfois (5–29 %) | Dans 1 affection |
| DLK1delta like non-canonical Notch ligand 1 | Parfois (5–29 %) | Dans 1 affection |
| DNASE1L3deoxyribonuclease 1L3 | Parfois (5–29 %) | Dans 1 affection |
| ENGendoglin | Parfois (5–29 %) | Dans 1 affection |
| FBN1fibrillin 1 | Parfois (5–29 %) | Dans 1 affection |
| FGFR3fibroblast growth factor receptor 3 | Parfois (5–29 %) | Dans 1 affection |
| FKRPfukutin related protein | Parfois (5–29 %) | Dans 2 affections |
| GDAP1ganglioside induced differentiation associated protein 1 | Parfois (5–29 %) | Dans 1 affection |
| GIPC1GIPC PDZ domain containing family member 1 | Parfois (5–29 %) | Dans 1 affection |
| HLA-Bmajor histocompatibility complex, class I, B | Parfois (5–29 %) | Dans 1 affection |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Parfois (5–29 %) | Dans 1 affection |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Parfois (5–29 %) | Dans 1 affection |
| IKZF1IKAROS family zinc finger 1 | Parfois (5–29 %) | Dans 1 affection |
| LRP12LDL receptor related protein 12 | Parfois (5–29 %) | Dans 2 affections |
| LTBP3latent transforming growth factor beta binding protein 3 | Parfois (5–29 %) | Dans 1 affection |
| MEG3maternally expressed 3 | Parfois (5–29 %) | Dans 1 affection |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Parfois (5–29 %) | Dans 1 affection |
| NLRP3NLR family pyrin domain containing 3 | Parfois (5–29 %) | Dans 1 affection |
| NOTCH2NLCnotch 2 N-terminal like C | Parfois (5–29 %) | Dans 1 affection |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Parfois (5–29 %) | Dans 1 affection |
| PRTN3proteinase 3 | Parfois (5–29 %) | Dans 1 affection |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Parfois (5–29 %) | Dans 1 affection |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Parfois (5–29 %) | Dans 1 affection |
| RILPL1Rab interacting lysosomal protein like 1 | Parfois (5–29 %) | Dans 1 affection |
| RNF168ring finger protein 168 | Parfois (5–29 %) | Dans 1 affection |
| RPA1replication protein A1 | Parfois (5–29 %) | Dans 1 affection |
| RTL1retrotransposon Gag like 1 | Parfois (5–29 %) | Dans 1 affection |
| TRAPPC11trafficking protein particle complex subunit 11 | Parfois (5–29 %) | Dans 2 affections |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Rarement (1–4 %) | Dans 1 affection |
| ACP5acid phosphatase 5, tartrate resistant | Non signalé | Dans 1 affection |
| BTNL2butyrophilin like 2 | Non signalé | Dans 1 affection |
| COL2A1collagen type II alpha 1 chain | Non signalé | Dans 1 affection |
| DDR2discoidin domain receptor tyrosine kinase 2 | Non signalé | Dans 1 affection |
| DKC1dyskerin pseudouridine synthase 1 | Non signalé | Dans 1 affection |
| FLNBfilamin B | Non signalé | Dans 1 affection |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Non signalé | Dans 1 affection |
| GLB1galactosidase beta 1 | Non signalé | Dans 1 affection |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Non signalé | Dans 1 affection |
| MEGF10multiple EGF like domains 10 | Non signalé | Dans 1 affection |
| SLC12A6solute carrier family 12 member 6 | Non signalé | Dans 1 affection |
| STAC3SH3 and cysteine rich domain 3 | Non signalé | Dans 1 affection |
Fréquence à laquelle le trait apparaît chez les personnes atteintes de l'une des affections liées à ce gène, telle que la Human Phenotype Ontology la consigne. Ces pages décrivent des traits et les recherches qui s'y rapportent ; elles ne constituent pas un diagnostic, et c'est un médecin ou un conseiller en génétique qu'il faut consulter au sujet des symptômes.
Traits plus généraux
D'où viennent ces informations
- La Human Phenotype Ontology, version 2026-09-01 : le trait, ses noms, sa définition et les gènes qui lui sont associés. En savoir plus sur hpo.jax.org.
- Version des données 2026.10.18-8b139e39.
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