Aliases & Classifications for Dysferlinopathy

MalaCards integrated aliases for Dysferlinopathy:

Name: Dysferlinopathy 23 49 28 69
Dysferlinopathies 36

Classifications:



External Ids:

KEGG 36 H00566
UMLS 69 C2931687

Summaries for Dysferlinopathy

NIH Rare Diseases : 49 Dysferlinopathies are muscular dystrophies caused by mutations in the dysferlin gene. Examples of dysferlinopathies include limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, and distal anterior compartment myopathy. Last updated: 7/12/2013

MalaCards based summary : Dysferlinopathy, also known as dysferlinopathies, is related to muscular dystrophy, limb-girdle, type 2b and autosomal recessive limb-girdle muscular dystrophy type 2b. An important gene associated with Dysferlinopathy is DYSF (Dysferlin), and among its related pathways/superpathways are Aquaporin-mediated transport and Bile secretion. The drugs Deflazacort and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, monocytes and liver.

Wikipedia : 72 Limb-girdle muscular dystrophy (LGMD) or Erb\'s muscular dystrophy is a genetically and clinically... more...

GeneReviews: NBK1303

Related Diseases for Dysferlinopathy

Diseases related to Dysferlinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2b 30.0 CAPN3 DYSF MYOF
2 autosomal recessive limb-girdle muscular dystrophy type 2b 29.9 CAPN3 DYSF MYOF
3 miyoshi muscular dystrophy 1 29.8 CAPN3 DYSF MYOF
4 muscular dystrophy, limb-girdle, type 2a 29.5 CAPN3 DYSF
5 autosomal recessive limb-girdle muscular dystrophy type 2f 10.4 CAPN3 DYSF
6 autosomal recessive limb-girdle muscular dystrophy type 2h 10.4 CAPN3 DYSF
7 muscular dystrophy, limb-girdle, type 2c 10.3 CAPN3 DYSF
8 muscular dystrophy, limb-girdle, type 2h 10.3 CAPN3 DYSF
9 muscular dystrophy, limb-girdle, type 2d 10.3 CAPN3 DYSF
10 muscular dystrophy, limb-girdle, type 2g 10.3 CAPN3 DYSF
11 muscular dystrophy, limb-girdle, type 2f 10.3 CAPN3 DYSF
12 muscular dystrophy-dystroglycanopathy , type c, 5 10.3 CAPN3 DYSF
13 inappropriate adh syndrome 10.3 AQP1 AQP4
14 central pontine myelinolysis 10.3 AQP1 AQP4
15 distal muscular dystrophy 10.2 CAPN3 DYSF
16 subependymoma 10.2 AQP1 AQP4
17 intracranial hypertension, idiopathic 10.2 AQP1 AQP4
18 acute hemorrhagic leukoencephalitis 10.2 AQP1 AQP4
19 autosomal recessive limb-girdle muscular dystrophy 10.2 CAPN3 DYSF
20 myopathy 10.1
21 muscular dystrophy 10.1
22 neuromyelitis optica 10.1 AQP1 AQP4
23 bethlem myopathy 1 10.1 CAPN3 DYSF
24 intracranial hypertension 10.1 AQP1 AQP4
25 muscle tissue disease 10.0 CAPN3 DYSF
26 limb-girdle muscular dystrophy 10.0
27 deafness, autosomal recessive 9 10.0 MYOF OTOF
28 polymyositis 9.9
29 priapism 9.8 AQP1 MIP
30 hydrops, lactic acidosis, and sideroblastic anemia 9.8 AQP4 MIP
31 rigid spine muscular dystrophy 1 9.8
32 pulmonary disease, chronic obstructive 9.8
33 muscle hypertrophy 9.8
34 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.8
35 ichthyosis lamellar 1 9.8
36 autosomal recessive congenital ichthyosis 9.8
37 ichthyosis 9.8
38 dystrophinopathies 9.8
39 idiopathic inflammatory myopathy 9.8
40 meniere disease 9.7 AQP1 AQP4 MIP
41 diabetes insipidus, nephrogenic, autosomal 9.7 AQP1 AQP4 MIP
42 brain edema 9.7 AQP1 AQP4 MIP

Graphical network of the top 20 diseases related to Dysferlinopathy:



Diseases related to Dysferlinopathy

Symptoms & Phenotypes for Dysferlinopathy

Drugs & Therapeutics for Dysferlinopathy

Drugs for Dysferlinopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Deflazacort Approved, Investigational Phase 2, Phase 3 14484-47-0
2 Immunosuppressive Agents Phase 2, Phase 3
3 Anti-Inflammatory Agents Phase 2, Phase 3
4
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
5 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
2 rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies Active, not recruiting NCT02710500 Phase 1 rAAVrh74.MHCK7.DYSF.DV
3 Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin Terminated NCT01863004 Phase 1 Bortezomib
4 Clinical Outcome Study for Dysferlinopathy Active, not recruiting NCT01676077

Search NIH Clinical Center for Dysferlinopathy

Genetic Tests for Dysferlinopathy

Genetic tests related to Dysferlinopathy:

# Genetic test Affiliating Genes
1 Dysferlinopathy 28

Anatomical Context for Dysferlinopathy

MalaCards organs/tissues related to Dysferlinopathy:

38
Skeletal Muscle, Monocytes, Liver

Publications for Dysferlinopathy

Articles related to Dysferlinopathy:

(show top 50) (show all 106)
# Title Authors Year
1
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. ( 29378789 )
2018
2
Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis. ( 28904466 )
2017
3
Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy. ( 28707952 )
2017
4
A unique case of dysferlinopathy with a large-segment duplication mutation who experienced rapid deterioration after small-dosage corticosteroid treatment. ( 28431623 )
2017
5
Thrombospondin-1 and disease progression in dysferlinopathy. ( 29206970 )
2017
6
Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene. ( 28110863 )
2017
7
Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy. ( 28502335 )
2017
8
Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA/J Mice. ( 28629822 )
2017
9
Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy. ( 28487742 )
2017
10
Dysferlinopathy Promotes an Intramuscle Expansion of Macrophages with a Cyto-Destructive Phenotype. ( 28412297 )
2017
11
Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan. ( 28337173 )
2017
12
Corrigendum: Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan. ( 28428771 )
2017
13
The Clinical Outcome Study for dysferlinopathy: An international multicenter study. ( 27602406 )
2016
14
Broadening The Imaging Phenotype of Dysferlinopathy at Different Disease Stages. ( 26800485 )
2016
15
Progress and challenges in diagnosis of dysferlinopathy. ( 27501525 )
2016
16
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. ( 27647186 )
2016
17
Heterogeneous characteristics of magnetic resonance imaging changes of thigh muscles in patients with dysferlinopathy. ( 27251469 )
2016
18
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. ( 26620441 )
2016
19
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C). ( 27195159 )
2016
20
Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies. ( 27349407 )
2016
21
Genome-wide expression analysis comparing hypertrophic changes in normal and dysferlinopathy mice. ( 26697388 )
2015
22
Dysferlinopathy in Iran: Clinical and genetic report. ( 26671124 )
2015
23
AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models. ( 25815352 )
2015
24
LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing. ( 27066575 )
2015
25
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy. ( 25868377 )
2015
26
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. ( 27066573 )
2015
27
Towards an objective measure of functional disability in dysferlinopathy. ( 25900324 )
2015
28
Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair. ( 26579332 )
2015
29
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. ( 26444858 )
2015
30
Late onset dysferlinopathy mimicking treatment resistant polymyositis. ( 26471412 )
2015
31
Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle. ( 26000923 )
2015
32
Respiratory and cardiac function in Japanese patients with dysferlinopathy. ( 26088049 )
2015
33
CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy. ( 26045819 )
2015
34
Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy. ( 26206886 )
2015
35
Improved immunoblotting methods provide critical insights into phenotypic differences between two murine dysferlinopathy models. ( 24639380 )
2014
36
Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. ( 24488599 )
2014
37
Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies. ( 25574751 )
2014
38
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients. ( 25046369 )
2014
39
Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy. ( 24395438 )
2014
40
Late-onset dysferlinopathy presented as "liver enzyme" abnormalities: a technical note. ( 25036559 )
2014
41
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. ( 25591676 )
2014
42
Involvement of oxidative stress, nuclear factor kappa B and the ubiquitin proteasomal pathway in dysferlinopathy. ( 24846833 )
2014
43
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. ( 23406536 )
2013
44
Dysferlinopathy presenting as rhabdomyolysis and acute renal failure. ( 22550092 )
2013
45
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy. ( 23254335 )
2013
46
Dual effects of exercise in dysferlinopathy. ( 23624156 )
2013
47
Distinct effects of contraction-induced injury in vivo on four different murine models of dysferlinopathy. ( 22431915 )
2012
48
Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy. ( 22367358 )
2012
49
Bent spine syndrome: a phenotype of dysferlinopathy or a symptomatic DYSF gene mutation carrier. ( 22517428 )
2012
50
Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. ( 22666441 )
2012

Variations for Dysferlinopathy

ClinVar genetic disease variations for Dysferlinopathy:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYSF NM_003494.3(DYSF): c.3444_3445delTGinsAA (p.Tyr1148Ter) indel Pathogenic rs398123781 GRCh37 Chromosome 2, 71817342: 71817343
2 DYSF NM_003494.3(DYSF): c.4200dupC (p.Ile1401Hisfs) duplication Pathogenic rs398123786 GRCh37 Chromosome 2, 71839803: 71839803
3 DYSF NM_003494.3(DYSF): c.5979dupA (p.Glu1994Argfs) duplication Pathogenic rs398123799 GRCh37 Chromosome 2, 71908163: 71908163
4 DYSF NM_003494.3(DYSF): c.4434G> A (p.Trp1478Ter) single nucleotide variant Pathogenic rs766016391 GRCh37 Chromosome 2, 71871118: 71871118
5 DYSF NM_003494.3(DYSF): c.2779delG (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh37 Chromosome 2, 71795437: 71795437
6 DYSF NM_003494.3(DYSF): c.1834C> T (p.Gln612Ter) single nucleotide variant Pathogenic rs746873768 GRCh37 Chromosome 2, 71780222: 71780222
7 DYSF NM_003494.3(DYSF): c.3112C> T (p.Arg1038Ter) single nucleotide variant Pathogenic rs369607332 GRCh37 Chromosome 2, 71797809: 71797809
8 DYSF NM_003494.3(DYSF): c.5077C> T (p.Arg1693Trp) single nucleotide variant Pathogenic/Likely pathogenic rs863225021 GRCh37 Chromosome 2, 71892311: 71892311
9 DYSF NM_003494.3(DYSF): c.339delA (p.Ala115Profs) deletion Pathogenic rs886042379 GRCh37 Chromosome 2, 71730446: 71730446
10 DYSF NM_003494.3(DYSF): c.4299C> G (p.Tyr1433Ter) single nucleotide variant Pathogenic rs886043145 GRCh37 Chromosome 2, 71839902: 71839902
11 DYSF NM_003494.3(DYSF): c.5884C> T (p.Gln1962Ter) single nucleotide variant Pathogenic rs1064794020 GRCh37 Chromosome 2, 71906303: 71906303
12 DYSF NM_003494.3(DYSF): c.1712_1713insTTCT (p.Lys571Asnfs) insertion Pathogenic GRCh38 Chromosome 2, 71551680: 71551681
13 DYSF NM_003494.3(DYSF): c.4473C> A (p.Cys1491Ter) single nucleotide variant Pathogenic rs778185705 GRCh37 Chromosome 2, 71871157: 71871157
14 DYSF NM_003494.3(DYSF): c.5350C> T (p.Gln1784Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 71668763: 71668763
15 DYSF NM_001130987.1(DYSF): c.5976_5977invAG (p.Glu1993Ter) inversion Pathogenic GRCh37 Chromosome 2, 71906278: 71906279

Expression for Dysferlinopathy

Search GEO for disease gene expression data for Dysferlinopathy.

Pathways for Dysferlinopathy

GO Terms for Dysferlinopathy

Cellular components related to Dysferlinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.7 AQP1 AQP4 CAPN3 DYSF MIP MYOF
2 T-tubule GO:0030315 8.96 CAPN3 DYSF
3 basolateral plasma membrane GO:0016323 8.8 AQP1 AQP4 OTOF

Biological processes related to Dysferlinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to hydrogen peroxide GO:0070301 9.4 AQP1 RELA
2 renal water homeostasis GO:0003091 9.37 AQP1 AQP4
3 negative regulation of protein sumoylation GO:0033234 9.32 CAPN3 RELA
4 multicellular organismal water homeostasis GO:0050891 9.26 AQP1 AQP4
5 plasma membrane repair GO:0001778 9.16 DYSF MYOF
6 cellular response to salt stress GO:0071472 8.96 AQP1 CAPN3
7 water transport GO:0006833 8.8 AQP1 AQP4 MIP

Molecular functions related to Dysferlinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 water transmembrane transporter activity GO:0005372 9.16 AQP1 AQP4
2 channel activity GO:0015267 9.13 AQP1 AQP4 MIP
3 water channel activity GO:0015250 8.8 AQP1 AQP4 MIP

Sources for Dysferlinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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