MCID: QLT008
MIFTS: 30

Qualitative or Quantitative Defects of Dysferlin

Categories: Rare diseases

Aliases & Classifications for Qualitative or Quantitative Defects of Dysferlin

MalaCards integrated aliases for Qualitative or Quantitative Defects of Dysferlin:

Name: Qualitative or Quantitative Defects of Dysferlin 58 29 6
Dysferlinopathy 58

Classifications:



External Ids:

UMLS via Orphanet 72 C2931687
Orphanet 58 ORPHA207073

Summaries for Qualitative or Quantitative Defects of Dysferlin

MalaCards based summary : Qualitative or Quantitative Defects of Dysferlin, also known as dysferlinopathy, is related to dysferlinopathy and miyoshi muscular dystrophy 1. An important gene associated with Qualitative or Quantitative Defects of Dysferlin is DYSF (Dysferlin). The drugs Deflazacort and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, monocytes and bone marrow.

Related Diseases for Qualitative or Quantitative Defects of Dysferlin

Diseases related to Qualitative or Quantitative Defects of Dysferlin via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 12.7
2 miyoshi muscular dystrophy 1 11.7
3 muscular dystrophy, limb-girdle, autosomal recessive 2 11.7
4 muscular dystrophy 10.9
5 myopathy 10.9
6 limb-girdle muscular dystrophy 10.9
7 miyoshi muscular dystrophy 10.5
8 polymyositis 10.5
9 muscular dystrophy, duchenne type 10.4
10 myopathy, distal, with anterior tibial onset 10.3
11 distal muscular dystrophy with anterior tibial onset 10.3
12 muscular atrophy 10.3
13 muscular dystrophy, limb-girdle, autosomal recessive 1 10.2
14 autosomal recessive disease 10.2
15 neuromuscular disease 10.2
16 rigid spine muscular dystrophy 1 10.2
17 muscular dystrophy, congenital, lmna-related 10.2
18 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
19 liver disease 10.2
20 dystrophinopathies 10.2
21 qualitative or quantitative defects of dystrophin 10.2
22 qualitative or quantitative defects of sarcoglycan 10.2
23 myositis 10.0
24 muscular dystrophy, becker type 10.0
25 cd4/cd8 t-cell ratio 10.0
26 pulmonary disease, chronic obstructive 10.0
27 muscle hypertrophy 10.0
28 chorea, childhood-onset, with psychomotor retardation 10.0
29 autosomal recessive congenital ichthyosis 10.0
30 muscular disease 10.0
31 autosomal recessive limb-girdle muscular dystrophy 10.0
32 tibial muscular dystrophy 10.0
33 dermatomyositis 10.0
34 respiratory failure 10.0
35 choreatic disease 10.0
36 ichthyosis 10.0
37 acute kidney failure 10.0
38 kidney disease 10.0
39 severe combined immunodeficiency 10.0
40 amyloidosis 10.0
41 myotonic dystrophy 10.0
42 47,xyy 10.0
43 cytokine deficiency 10.0
44 progressive muscular dystrophy 10.0

Graphical network of the top 20 diseases related to Qualitative or Quantitative Defects of Dysferlin:



Diseases related to Qualitative or Quantitative Defects of Dysferlin

Symptoms & Phenotypes for Qualitative or Quantitative Defects of Dysferlin

Drugs & Therapeutics for Qualitative or Quantitative Defects of Dysferlin

Drugs for Qualitative or Quantitative Defects of Dysferlin (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# 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 Immunologic Factors Phase 2, Phase 3
5
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
6 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
2 Phase I Intramuscular Gene Transfer Clinical Trial for Dysferlin Deficiency Delivering the Dysferlin Gene by AAVrh74 Completed NCT02710500 Phase 1 rAAVrh74.MHCK7.DYSF.DV
3 Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin Terminated NCT01863004 Phase 1 Bortezomib
4 International Clinical Outcome Study for Dysferlinopathy Unknown status NCT01676077

Search NIH Clinical Center for Qualitative or Quantitative Defects of Dysferlin

Genetic Tests for Qualitative or Quantitative Defects of Dysferlin

Genetic tests related to Qualitative or Quantitative Defects of Dysferlin:

# Genetic test Affiliating Genes
1 Qualitative or Quantitative Defects of Dysferlin 29

Anatomical Context for Qualitative or Quantitative Defects of Dysferlin

MalaCards organs/tissues related to Qualitative or Quantitative Defects of Dysferlin:

40
Skeletal Muscle, Monocytes, Bone Marrow, Bone, Heart, Liver

Publications for Qualitative or Quantitative Defects of Dysferlin

Articles related to Qualitative or Quantitative Defects of Dysferlin:

(show top 50) (show all 260)
# Title Authors PMID Year
1
Dysferlinopathy 6 61
20301480 2004
2
N-Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient Bla/J Mice. 61
32560255 2020
3
Dysferlin links excitation-contraction coupling to structure and maintenance of the cardiac transverse-axial tubule system. 61
32572487 2020
4
Early pathological signs in young dysf-/- mice are improved by halofuginone. 61
32451154 2020
5
The genetic profile of dysferlinopathy in a cohort of 209 cases: genotype-phenotype relationship and a hotspot on the inner DysF domain. 61
32400077 2020
6
Isoform-specific Na,K-ATPase and membrane cholesterol remodeling in motor endplates in distinct mouse models of myodystrophy. 61
32293933 2020
7
Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report. 61
32293312 2020
8
Antisense-Mediated Skipping of Dysferlin Exons in Control and Dysferlinopathy Patient-Derived Cells. 61
31873062 2020
9
AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy. 61
32087766 2020
10
Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation. 61
32305450 2020
11
BEON: A Functional Fluorescence Reporter for Quantification and Enrichment of Adenine Base-Editing Activity. 61
32353322 2020
12
"Boule du biceps" in dysferlinopathy. 61
31822577 2020
13
Proteomic analysis of the skeletal muscles from dysferlinopathy patients. 61
31439488 2020
14
Human muscle pathology is associated with altered phosphoprotein profile of mitochondrial proteins in the skeletal muscle. 61
31655151 2020
15
Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect. 61
31693312 2019
16
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia. 61
30572172 2019
17
Significance of Asymptomatic Hyper Creatine-Kinase Emia. 61
31743252 2019
18
Defects in G-Actin Incorporation into Filaments in Myoblasts Derived from Dysferlinopathy Patients Are Restored by Dysferlin C2 Domains. 61
31861684 2019
19
Engineered skeletal muscles for disease modeling and drug discovery. 61
31419653 2019
20
Recent advancements in exon-skipping therapies using antisense oligonucleotides and genome editing for the treatment of various muscular dystrophies. 61
31576784 2019
21
Phenotypic Drug Screening for Dysferlinopathy Using Patient-Derived Induced Pluripotent Stem Cells. 61
31250983 2019
22
Dysferlin deficiency alters lipid metabolism and remodels the skeletal muscle lipidome in mice. 61
31203232 2019
23
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests. 61
30578674 2019
24
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. 61
31019989 2019
25
Abnormal Membrane Localization of α2 Isoform of Na,K-ATPase in m. soleus of Dysferlin-Deficient Mice. 61
30903507 2019
26
Assessment of disease progression in dysferlinopathy: A 1-year cohort study. 61
30626655 2019
27
Effects of Prednisone on a Patient with Dysferlinopathy Assessed by Maximal Voluntary Isometric Contraction: Alternate-Day Low-Dose Administration for a 17-Year Period. 61
31043956 2019
28
Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy. 61
30439648 2018
29
Exon Skipping in a Dysf-Missense Mutant Mouse Model. 61
30292141 2018
30
LARGE expression in different types of muscular dystrophies other than dystroglycanopathy. 61
30553274 2018
31
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. 61
29378789 2018
32
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. 61
29735511 2018
33
Exercise in muscle disorders: what is our current state? 61
30036194 2018
34
Effect of MAPK Inhibition on the Differentiation of a Rhabdomyosarcoma Cell Line Combined With CRISPR/Cas9 Technology: An In Vitro Model of Human Muscle Diseases. 61
30184235 2018
35
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients. 61
30107846 2018
36
A promotive effect for halofuginone on membrane repair and synaptotagmin-7 levels in muscle cells of dysferlin-null mice. 61
29771357 2018
37
Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy. 61
28707952 2018
38
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers. 61
29879922 2018
39
A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy. 61
29799141 2018
40
Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B. 61
29175948 2018
41
A Case of Obsessive-Compulsive Disorder Comorbid with Miyoshi Myopathy. 61
29403136 2018
42
An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases. 61
30171533 2018
43
Serum exosomes can restore cellular function in vitro and be used for diagnosis in dysferlinopathy. 61
29507617 2018
44
Cell Membrane Repair Assay Using a Two-photon Laser Microscope. 61
29364240 2018
45
Dysferlin Exon 32 Skipping in Patient Cells. 61
30171562 2018
46
Thrombospondin-1 and disease progression in dysferlinopathy. 61
29206970 2017
47
Characterization of isolated amyloid myopathy. 61
28888072 2017
48
Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P. 61
28904177 2017
49
Which nonautoimmune myopathies are most frequently misdiagnosed as myositis? 61
28832350 2017
50
Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA/J Mice. 61
28629822 2017

Variations for Qualitative or Quantitative Defects of Dysferlin

ClinVar genetic disease variations for Qualitative or Quantitative Defects of Dysferlin:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DYSF NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)SNV Pathogenic 419655 rs1064794020 2:71906303-71906303 2:71679173-71679173
2 DYSF NM_001130987.2(DYSF):c.1766_1767insTTCT (p.Lys589fs)insertion Pathogenic 471281 rs1553542773 2:71778810-71778811 2:71551680-71551681
3 DYSF NM_001130987.2(DYSF):c.4590C>A (p.Cys1530Ter)SNV Pathogenic 471307 rs778185705 2:71871157-71871157 2:71644027-71644027
4 DYSF NM_001130987.2(DYSF):c.5467C>T (p.Gln1823Ter)SNV Pathogenic 471317 rs1553415109 2:71895893-71895893 2:71668763-71668763
5 DYSF NM_001130987.2(DYSF):c.5976_5977inv (p.Glu1993Ter)inversion Pathogenic 471321 2:71906278-71906279 2:71679148-71679149
6 DYSF NM_001130987.2(DYSF):c.5938A>T (p.Lys1980Ter)SNV Pathogenic 501036 rs1553420738 2:71906240-71906240 2:71679110-71679110
7 DYSF NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs)duplication Pathogenic 502211 rs1553370437 2:71816756-71816757 2:71589626-71589627
8 DYSF NM_001130987.2(DYSF):c.5317+1G>ASNV Pathogenic 538631 rs773386253 2:71892435-71892435 2:71665305-71665305
9 DYSF NM_001130987.2(DYSF):c.1471dup (p.Met491fs)duplication Pathogenic 550946 rs1236367931 2:71762413-71762414 2:71535283-71535284
10 DYSF NM_001130987.2(DYSF):c.1834_1835del (p.Leu612fs)deletion Pathogenic 579639 rs1559141367 2:71780168-71780169 2:71553038-71553039
11 DYSF NM_001130987.2(DYSF):c.3741C>A (p.Tyr1247Ter)SNV Pathogenic 575305 rs375160101 2:71825860-71825860 2:71598730-71598730
12 DYSF NM_001130987.2(DYSF):c.6141_6151del (p.Pro2048_Asn2049insTer)deletion Pathogenic 573478 rs1558817973 2:71908204-71908214 2:71681074-71681084
13 DYSF NM_001130987.2(DYSF):c.361C>T (p.Gln121Ter)SNV Pathogenic 567525 rs1423123313 2:71738952-71738952 2:71511822-71511822
14 DYSF NM_003494.3(DYSF):c.2512-1495_3148deldeletion Pathogenic 573415 2:71793586-71797845 2:71566456-71570715
15 DYSF NM_001130987.2(DYSF):c.4909A>T (p.Lys1637Ter)SNV Pathogenic 574900 rs1558750788 2:71886161-71886161 2:71659031-71659031
16 DYSF NM_001130987.2(DYSF):c.5086G>T (p.Glu1696Ter)SNV Pathogenic 574059 rs368142107 2:71891480-71891480 2:71664350-71664350
17 DYSF NM_001130987.2(DYSF):c.5724G>A (p.Trp1908Ter)SNV Pathogenic 571837 rs1558787893 2:71896816-71896816 2:71669686-71669686
18 DYSF NM_001130987.2(DYSF):c.5200del (p.Gln1734fs)deletion Pathogenic 619218 rs1558771348 2:71892316-71892316 2:71665186-71665186
19 DYSF NM_001130987.2(DYSF):c.1922del (p.Lys641fs)deletion Pathogenic 654135 2:71780255-71780255 2:71553125-71553125
20 DYSF NM_001130987.2(DYSF):c.2070del (p.Ile690fs)deletion Pathogenic 642604 2:71781022-71781022 2:71553892-71553892
21 DYSF NM_001130987.2(DYSF):c.895_896del (p.Phe299fs)deletion Pathogenic 639814 2:71743314-71743315 2:71516184-71516185
22 DYSF NM_001130987.2(DYSF):c.3270_3271CT[2] (p.Leu1092fs)short repeat Pathogenic 653601 2:71801369-71801370 2:71574239-71574240
23 DYSF NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter)SNV Pathogenic 647109 2:71838688-71838688 2:71611558-71611558
24 DYSF NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs)duplication Pathogenic 646166 2:71827929-71827930 2:71600799-71600800
25 DYSF NM_001130987.2(DYSF):c.4418_4419dup (p.Val1474fs)duplication Pathogenic 644959 2:71840493-71840494 2:71613363-71613364
26 DYSF NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)SNV Pathogenic 665762 2:71840520-71840520 2:71613390-71613390
27 DYSF NM_001130987.2(DYSF):c.6166del (p.Asp2056fs)deletion Pathogenic 666025 2:71908232-71908232 2:71681102-71681102
28 DYSF NC_000002.12:g.(?_71480873)_(71481980_?)deldeletion Pathogenic 659607 2:71708003-71709110 2:71480873-71481980
29 DYSF NC_000002.12:g.(?_71567941)_(71570344_?)deldeletion Pathogenic 655241 2:71795071-71797474 2:71567941-71570344
30 DYSF NC_000002.12:g.(?_71679047)_(71679245_?)deldeletion Pathogenic 640452 2:71906177-71906375 2:71679047-71679245
31 DYSF NM_003494.3(DYSF):c.2512-1496_3149deldeletion Pathogenic 655612 2:71566455-71570716
32 DYSF NM_001130987.2(DYSF):c.306del (p.Phe102fs)deletion Pathogenic 863635 2:71730410-71730410 2:71503280-71503280
33 DYSF NM_001130987.2(DYSF):c.991G>C (p.Gly331Arg)SNV Pathogenic 837557 2:71744158-71744158 2:71517028-71517028
34 DYSF NM_001130987.2(DYSF):c.1117del (p.Leu373fs)deletion Pathogenic 848060 2:71748001-71748001 2:71520871-71520871
35 DYSF NM_001130987.2(DYSF):c.1213_1250del (p.Gly405fs)deletion Pathogenic 841065 2:71753413-71753450 2:71526283-71526320
36 DYSF NM_001130987.2(DYSF):c.1965C>A (p.Tyr655Ter)SNV Pathogenic 837580 2:71780299-71780299 2:71553169-71553169
37 DYSF NM_001130987.2(DYSF):c.2442G>A (p.Trp814Ter)SNV Pathogenic 864338 2:71791220-71791220 2:71564090-71564090
38 DYSF NM_001130987.2(DYSF):c.2648dup (p.Glu884fs)duplication Pathogenic 856589 2:71795161-71795162 2:71568031-71568032
39 DYSF NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter)SNV Pathogenic 850419 2:71797365-71797365 2:71570235-71570235
40 DYSF NM_001130987.2(DYSF):c.3756T>A (p.Tyr1252Ter)SNV Pathogenic 857602 2:71825875-71825875 2:71598745-71598745
41 DYSF NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter)SNV Pathogenic 841556 2:71839797-71839797 2:71612667-71612667
42 DYSF NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter)SNV Pathogenic 853605 2:71892428-71892428 2:71665298-71665298
43 DYSF NM_001130987.2(DYSF):c.148-1G>ASNV Pathogenic 856717 2:71709008-71709008 2:71481878-71481878
44 DYSF NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs)indel Pathogenic 6669 rs786200896 2:71887767-71887771 2:71660637-71660641
45 DYSF NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)SNV Pathogenic 6671 rs121908956 2:71791204-71791204 2:71564074-71564074
46 DYSF NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)SNV Pathogenic 6676 rs121908959 2:71901372-71901372 2:71674242-71674242
47 DYSF NM_001130987.2(DYSF):c.5711del (p.Gly1904fs)deletion Pathogenic 6666 rs786205081 2:71896802-71896802 2:71669672-71669672
48 DYSF NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)deletion Pathogenic 6685 rs727503909 2:71795435-71795435 2:71568305-71568305
49 DYSF NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)deletion Pathogenic 94263 rs398123764 2:71708030-71708031 2:71480900-71480901
50 DYSF NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)SNV Pathogenic 94269 rs202044973 2:71762412-71762412 2:71535282-71535282

Expression for Qualitative or Quantitative Defects of Dysferlin

Search GEO for disease gene expression data for Qualitative or Quantitative Defects of Dysferlin.

Pathways for Qualitative or Quantitative Defects of Dysferlin

GO Terms for Qualitative or Quantitative Defects of Dysferlin

Sources for Qualitative or Quantitative Defects of Dysferlin

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