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Egenskap
Muscular dystrophy
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Sammendrag
- Kroppssystem
- Abnormality of the musculoskeletal system
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/muscular-dystrophy.json"
page <- fromJSON(url)
page$trait$nameMuscular dystrophyHP:0003560
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Les genene knyttet til Muscular dystrophy, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test41 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.
- Limb-Girdle Muscular DystrophyReads 28 of these genesFKTNLMNAPOMGNT1COL6A1COL6A2COL6A3About this report →
- Congenital Muscular DystrophiesReads 24 of these genesCHKBFKTNPOMGNT1POMGNT2POMKPOMT1About this report →
- Dilated CardiomyopathyReads 13 of these genesFKTNLMNAMYH7TTNSCN5ASGCAAbout this report →
- Distal MyopathiesReads 6 of these genesMYH7TTNANO5CRYABDYSFHNRNPA1About this report →
Show 37 more reports
- Mosaic Variegated Aneuploidy SyndromeReads 3 of these genesBUB1BCEP57TRIP13About this report →
- Myofibrillar MyopathiesReads 4 of these genesTTNRYR1BAG3CRYABAbout this report →
- Congenital Disorders of GlycosylationReads 11 of these genesFKTNPOMGNT1POMGNT2POMT1POMT2CRPPAAbout this report →
- Brugada SyndromeReads 1 of these genesSCN5AAbout this report →
- COL4A1-Related DisorderReads 1 of these genesCOL4A1About this report →
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)Reads 1 of these genesDMDAbout this report →
- Glycerol Kinase DeficiencyReads 1 of these genesGKAbout this report →
- PLEC-Related Epidermolysis Bullosa and Muscular DystrophyReads 1 of these genesPLECAbout this report →
- TOR1AIP1-Related Multisystem DisorderReads 1 of these genesTOR1AIP1About this report →
- TOR1AIP1-Related MyopathyReads 1 of these genesTOR1AIP1About this report →
- Congenital MyopathiesReads 4 of these genesMYH7SELENONTTNRYR1About this report →
- LipodystrophyReads 3 of these genesLMNALIPECAVIN1About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 2 of these genesLMNASCN5AAbout this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Epidermolysis BullosaReads 2 of these genesITGB4PLECAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesSIL1PNKPSYNE1About this report →
- Congenital Myasthenic SyndromeReads 2 of these genesGMPPBPLECAbout this report →
- Left Ventricular NoncompactionReads 1 of these genesMYH7About this report →
- Familial Glucocorticoid DeficiencyReads 1 of these genesNR0B1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesCOL6A3PNKPAbout this report →
- Long QT SyndromeReads 1 of these genesSCN5AAbout this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesTMEM43About this report →
- Frontotemporal DementiaReads 1 of these genesHNRNPA1About this report →
- Inherited Neurodegenerative DisordersReads 5 of these genesTRIP4SIL1PNKPHNRNPA1SYNE1About this report →
- Hypertrophic CardiomyopathyReads 2 of these genesMYH7TCAPAbout this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesAHCYAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesCOL12A1About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesTRIM32About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesCRYABAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesHNRNPA1About this report →
- Osteogenesis ImperfectaReads 1 of these genesANO5About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesNR0B1About this report →
- Female InfertilityReads 1 of these genesTRIP13About this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesLMNAPNKPAbout this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesLMNAAbout this report →
- Retinitis PigmentosaReads 1 of these genesPOMGNT1About this report →
- Epilepsy (Full Panel)Reads 1 of these genesPNKPAbout this report →
Les genene knyttet til Muscular dystrophy, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test73 gener knyttet til Muscular dystrophy
Endringer i disse genene forårsaker sjeldne tilstander der Muscular dystrophy forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| CHKBcholine kinase beta | Alltid | I 1 tilstand |
| FKTNfukutin | Alltid | I 7 tilstander |
| LMNAlamin A/C | Alltid | I 4 tilstander |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Alltid | I 5 tilstander |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Alltid | I 2 tilstander |
| POMKprotein O-mannose kinase | Alltid | I 4 tilstander |
| POMT1protein O-mannosyltransferase 1 | Alltid | I 7 tilstander |
| POMT2protein O-mannosyltransferase 2 | Alltid | I 6 tilstander |
| TRIP4thyroid hormone receptor interactor 4 | Alltid | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Svært ofte (80–99 %) | I 1 tilstand |
| BUB3BUB3 mitotic checkpoint protein | Svært ofte (80–99 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Svært ofte (80–99 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Svært ofte (80–99 %) | I 2 tilstander |
| COL4A1collagen type IV alpha 1 chain | Svært ofte (80–99 %) | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Svært ofte (80–99 %) | I 2 tilstander |
| COL6A2collagen type VI alpha 2 chain | Svært ofte (80–99 %) | I 1 tilstand |
| COL6A3collagen type VI alpha 3 chain | Svært ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Svært ofte (80–99 %) | I 3 tilstander |
| DAG1dystroglycan 1 | Svært ofte (80–99 %) | I 3 tilstander |
| FKRPfukutin related protein | Svært ofte (80–99 %) | I 8 tilstander |
| GMPPBGDP-mannose pyrophosphorylase B | Svært ofte (80–99 %) | I 4 tilstander |
| JAG2jagged canonical Notch ligand 2 | Svært ofte (80–99 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Svært ofte (80–99 %) | I 2 tilstander |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Svært ofte (80–99 %) | I 4 tilstander |
| MYH7myosin heavy chain 7 | Svært ofte (80–99 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SELENONselenoprotein N | Svært ofte (80–99 %) | I 2 tilstander |
| TRIP13thyroid hormone receptor interactor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| TTNtitin | Svært ofte (80–99 %) | I 3 tilstander |
| AHCYadenosylhomocysteinase | Ofte (30–79 %) | I 1 tilstand |
| CAPN3calpain 3 | Ofte (30–79 %) | I 2 tilstander |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Ofte (30–79 %) | I 1 tilstand |
| NPPAnatriuretic peptide A | Ofte (30–79 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| SGCAsarcoglycan alpha | Ofte (30–79 %) | I 1 tilstand |
Vis 33 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| SIL1SIL1 nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ofte (30–79 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Noen ganger (5–29 %) | I 2 tilstander |
| ITGB4integrin subunit beta 4 | Noen ganger (5–29 %) | I 1 tilstand |
| LIPElipase E, hormone sensitive type | Noen ganger (5–29 %) | I 1 tilstand |
| PLECplectin | Noen ganger (5–29 %) | I 3 tilstander |
| PNKPpolynucleotide kinase 3'-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| ANO5anoctamin 5 | Ikke registrert | I 2 tilstander |
| BAG3BAG cochaperone 3 | Ikke registrert | I 1 tilstand |
| BET1Bet1 golgi vesicular membrane trafficking protein | Ikke registrert | I 1 tilstand |
| CAV3caveolin 3 | Ikke registrert | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ikke registrert | I 1 tilstand |
| CRYABcrystallin alpha B | Ikke registrert | I 1 tilstand |
| DMDdystrophin | Ikke registrert | I 2 tilstander |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Ikke registrert | I 1 tilstand |
| DYSFdysferlin | Ikke registrert | I 2 tilstander |
| GKglycerol kinase | Ikke registrert | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ikke registrert | I 2 tilstander |
| ITGA7integrin subunit alpha 7 | Ikke registrert | I 1 tilstand |
| LIMS2LIM zinc finger domain containing 2 | Ikke registrert | I 1 tilstand |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Ikke registrert | I 1 tilstand |
| PLIN4perilipin 4 | Ikke registrert | I 1 tilstand |
| POPDC1popeye domain cAMP effector 1 | Ikke registrert | I 1 tilstand |
| SGCBsarcoglycan beta | Ikke registrert | I 1 tilstand |
| SGCDsarcoglycan delta | Ikke registrert | I 1 tilstand |
| SGCGsarcoglycan gamma | Ikke registrert | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ikke registrert | I 1 tilstand |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Ikke registrert | I 1 tilstand |
| TCAPtitin-cap | Ikke registrert | I 1 tilstand |
| TMEM43transmembrane protein 43 | Ikke registrert | I 1 tilstand |
| TNPO3transportin 3 | Ikke registrert | I 1 tilstand |
| TOR1AIP1torsin 1A interacting protein 1 | Ikke registrert | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.19-9814e911.
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