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Požymis
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.
Santrauka
- Kūno sistema
- Abnormality of the musculoskeletal system
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/muscular-dystrophy.json"
page <- fromJSON(url)
page$trait$nameMuscular dystrophyHP:0003560
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PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Muscular dystrophy, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test41 condition report reads 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 →
Vienu tyrimu sužinokite genus, susijusius su Muscular dystrophy, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test73 genų susiję su Muscular dystrophy
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Muscular dystrophy. 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 |
|---|---|---|
| CHKBcholine kinase beta | Visada | 1 ligoje |
| FKTNfukutin | Visada | 7 ligose |
| LMNAlamin A/C | Visada | 4 ligose |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Visada | 5 ligose |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Visada | 2 ligose |
| POMKprotein O-mannose kinase | Visada | 4 ligose |
| POMT1protein O-mannosyltransferase 1 | Visada | 7 ligose |
| POMT2protein O-mannosyltransferase 2 | Visada | 6 ligose |
| TRIP4thyroid hormone receptor interactor 4 | Visada | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Labai dažnai (80–99%) | 2 ligose |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Labai dažnai (80–99%) | 2 ligose |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Labai dažnai (80–99%) | 1 ligoje |
| BUB3BUB3 mitotic checkpoint protein | Labai dažnai (80–99%) | 1 ligoje |
| CEP57centrosomal protein 57 | Labai dažnai (80–99%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Labai dažnai (80–99%) | 2 ligose |
| COL4A1collagen type IV alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Labai dažnai (80–99%) | 2 ligose |
| COL6A2collagen type VI alpha 2 chain | Labai dažnai (80–99%) | 1 ligoje |
| COL6A3collagen type VI alpha 3 chain | Labai dažnai (80–99%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Labai dažnai (80–99%) | 3 ligose |
| DAG1dystroglycan 1 | Labai dažnai (80–99%) | 3 ligose |
| FKRPfukutin related protein | Labai dažnai (80–99%) | 8 ligose |
| GMPPBGDP-mannose pyrophosphorylase B | Labai dažnai (80–99%) | 4 ligose |
| JAG2jagged canonical Notch ligand 2 | Labai dažnai (80–99%) | 1 ligoje |
| LAMA2laminin subunit alpha 2 | Labai dažnai (80–99%) | 2 ligose |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Labai dažnai (80–99%) | 4 ligose |
| MYH7myosin heavy chain 7 | Labai dažnai (80–99%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Labai dažnai (80–99%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| SELENONselenoprotein N | Labai dažnai (80–99%) | 2 ligose |
| TRIP13thyroid hormone receptor interactor 13 | Labai dažnai (80–99%) | 1 ligoje |
| TTNtitin | Labai dažnai (80–99%) | 3 ligose |
| AHCYadenosylhomocysteinase | Dažnai (30–79%) | 1 ligoje |
| CAPN3calpain 3 | Dažnai (30–79%) | 2 ligose |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Dažnai (30–79%) | 1 ligoje |
| NPPAnatriuretic peptide A | Dažnai (30–79%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Dažnai (30–79%) | 2 ligose |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Dažnai (30–79%) | 1 ligoje |
| SGCAsarcoglycan alpha | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 33 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SIL1SIL1 nucleotide exchange factor | Dažnai (30–79%) | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Dažnai (30–79%) | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Kartais (5–29%) | 2 ligose |
| ITGB4integrin subunit beta 4 | Kartais (5–29%) | 1 ligoje |
| LIPElipase E, hormone sensitive type | Kartais (5–29%) | 1 ligoje |
| PLECplectin | Kartais (5–29%) | 3 ligose |
| PNKPpolynucleotide kinase 3'-phosphatase | Kartais (5–29%) | 1 ligoje |
| ANO5anoctamin 5 | Neužfiksuota | 2 ligose |
| BAG3BAG cochaperone 3 | Neužfiksuota | 1 ligoje |
| BET1Bet1 golgi vesicular membrane trafficking protein | Neužfiksuota | 1 ligoje |
| CAV3caveolin 3 | Neužfiksuota | 1 ligoje |
| CAVIN1caveolae associated protein 1 | Neužfiksuota | 1 ligoje |
| CRYABcrystallin alpha B | Neužfiksuota | 1 ligoje |
| DMDdystrophin | Neužfiksuota | 2 ligose |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Neužfiksuota | 1 ligoje |
| DYSFdysferlin | Neužfiksuota | 2 ligose |
| GKglycerol kinase | Neužfiksuota | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Neužfiksuota | 2 ligose |
| ITGA7integrin subunit alpha 7 | Neužfiksuota | 1 ligoje |
| LIMS2LIM zinc finger domain containing 2 | Neužfiksuota | 1 ligoje |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Neužfiksuota | 1 ligoje |
| PLIN4perilipin 4 | Neužfiksuota | 1 ligoje |
| POPDC1popeye domain cAMP effector 1 | Neužfiksuota | 1 ligoje |
| SGCBsarcoglycan beta | Neužfiksuota | 1 ligoje |
| SGCDsarcoglycan delta | Neužfiksuota | 1 ligoje |
| SGCGsarcoglycan gamma | Neužfiksuota | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Neužfiksuota | 1 ligoje |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Neužfiksuota | 1 ligoje |
| TCAPtitin-cap | Neužfiksuota | 1 ligoje |
| TMEM43transmembrane protein 43 | Neužfiksuota | 1 ligoje |
| TNPO3transportin 3 | Neužfiksuota | 1 ligoje |
| TOR1AIP1torsin 1A interacting protein 1 | Neužfiksuota | 1 ligoje |
| TRIM32tripartite motif containing 32 | 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.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.19-9814e911.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
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