MCID: QLT008
MIFTS: 28

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 59
Dysferlinopathy 59

Classifications:



External Ids:

UMLS via Orphanet 73 C2931687
Orphanet 59 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 Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, monocytes and liver.

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 49)
# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 12.8
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 10.8
7 miyoshi muscular dystrophy 10.5
8 polymyositis 10.5
9 muscular dystrophy, duchenne type 10.3
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 neuromuscular disease 10.2
15 rigid spine muscular dystrophy 1 10.1
16 muscular dystrophy, congenital, lmna-related 10.1
17 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
18 autosomal recessive disease 10.1
19 muscular disease 10.1
20 liver disease 10.1
21 caveolinopathies 10.1
22 dystrophinopathies 10.1
23 qualitative or quantitative defects of dystrophin 10.1
24 qualitative or quantitative defects of sarcoglycan 10.1
25 myositis 10.0
26 muscular dystrophy, becker type 10.0
27 cd4/cd8 t-cell ratio 10.0
28 pulmonary disease, chronic obstructive 10.0
29 muscle hypertrophy 10.0
30 chorea, childhood-onset, with psychomotor retardation 10.0
31 hydrops, lactic acidosis, and sideroblastic anemia 10.0
32 autosomal recessive congenital ichthyosis 10.0
33 autosomal recessive limb-girdle muscular dystrophy 10.0
34 tibial muscular dystrophy 10.0
35 dermatomyositis 10.0
36 respiratory failure 10.0
37 choreatic disease 10.0
38 ichthyosis 10.0
39 acute kidney failure 10.0
40 kidney disease 10.0
41 severe combined immunodeficiency 10.0
42 amyloidosis 10.0
43 myotonic dystrophy 10.0
44 47,xyy 10.0
45 cytokine deficiency 10.0
46 idiopathic inflammatory myopathy 10.0
47 myotonia atrophica 10.0
48 isolated hyperckemia 10.0
49 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 Immunologic Factors Phase 2, Phase 3
3 Immunosuppressive Agents Phase 2, Phase 3
4 Anti-Inflammatory Agents Phase 2, Phase 3
5
Bortezomib Approved, Investigational Phase 1 179324-69-7 93860 387447
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 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 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

Anatomical Context for Qualitative or Quantitative Defects of Dysferlin

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

41
Skeletal Muscle, Monocytes, Liver, Heart, Bone, Bone Marrow

Publications for Qualitative or Quantitative Defects of Dysferlin

Articles related to Qualitative or Quantitative Defects of Dysferlin:

(show top 50) (show all 243)
# Title Authors PMID Year
1
Engineered skeletal muscles for disease modeling and drug discovery. 38
31419653 2019
2
Dysferlin deficiency alters lipid metabolism and remodels the skeletal muscle lipidome in mice. 38
31203232 2019
3
Phenotypic Drug Screening for Dysferlinopathy Using Patient-Derived Induced Pluripotent Stem Cells. 38
31250983 2019
4
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. 38
31019989 2019
5
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests. 38
30578674 2019
6
Abnormal Membrane Localization of α2 Isoform of Na,K-ATPase in m. soleus of Dysferlin-Deficient Mice. 38
30903507 2019
7
Effects of Prednisone on a Patient with Dysferlinopathy Assessed by Maximal Voluntary Isometric Contraction: Alternate-Day Low-Dose Administration for a 17-Year Period. 38
31043956 2019
8
Assessment of disease progression in dysferlinopathy: A 1-year cohort study. 38
30626655 2019
9
Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy. 38
30439648 2018
10
Exon Skipping in a Dysf-Missense Mutant Mouse Model. 38
30292141 2018
11
LARGE expression in different types of muscular dystrophies other than dystroglycanopathy. 38
30553274 2018
12
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia. 38
30572172 2018
13
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. 38
29378789 2018
14
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. 38
29735511 2018
15
Exercise in muscle disorders: what is our current state? 38
30036194 2018
16
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. 38
30184235 2018
17
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients. 38
30107846 2018
18
A promotive effect for halofuginone on membrane repair and synaptotagmin-7 levels in muscle cells of dysferlin-null mice. 38
29771357 2018
19
Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy. 38
28707952 2018
20
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers. 38
29879922 2018
21
A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy. 38
29799141 2018
22
Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B. 38
29175948 2018
23
A Case of Obsessive-Compulsive Disorder Comorbid with Miyoshi Myopathy. 38
29403136 2018
24
An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases. 38
30171533 2018
25
Cell Membrane Repair Assay Using a Two-photon Laser Microscope. 38
29364240 2018
26
Serum exosomes can restore cellular function in vitro and be used for diagnosis in dysferlinopathy. 38
29507617 2018
27
Dysferlin Exon 32 Skipping in Patient Cells. 38
30171562 2018
28
Thrombospondin-1 and disease progression in dysferlinopathy. 38
29206970 2017
29
Characterization of isolated amyloid myopathy. 38
28888072 2017
30
Which nonautoimmune myopathies are most frequently misdiagnosed as myositis? 38
28832350 2017
31
Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P. 38
28904177 2017
32
Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA/J Mice. 38
28629822 2017
33
["Therapy-resistant polymyositis" - is the diagnosis correct?] 38
28523511 2017
34
RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis. 38
28738907 2017
35
[Progressive muscular weakness of lower limbs revealing a limb girdle muscular dystrophy]. 38
28795552 2017
36
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. 38
28904466 2017
37
Dysferlinopathy Promotes an Intramuscle Expansion of Macrophages with a Cyto-Destructive Phenotype. 38
28412297 2017
38
Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle. 38
28334824 2017
39
A unique case of dysferlinopathy with a large-segment duplication mutation who experienced rapid deterioration after small-dosage corticosteroid treatment. 38
28431623 2017
40
Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy. 38
28502335 2017
41
Limb-girdle Muscular Dystrophies in India: A Review. 38
28615891 2017
42
Elevated Expression of Moesin in Muscular Dystrophies. 38
28082118 2017
43
Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene. 38
28110863 2017
44
Hip region muscular dystrophy and emergence of motor deficits in dysferlin-deficient Bla/J mice. 38
28320887 2017
45
Immunohistochemistry of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded skeletal muscle tissue: a promising tool for the diagnostic evaluation of common muscular dystrophies. 38
28219397 2017
46
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? 38
28053302 2017
47
Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan. 38
28337173 2017
48
Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy. 38
28487742 2017
49
Corrigendum: Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan. 38
28428771 2017
50
Dysferlin quantification in monocytes for rapid screening for dysferlinopathies. 38
27104310 2016

Variations for Qualitative or Quantitative Defects of Dysferlin

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

6 (show top 50) (show all 394)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DYSF NM_003494.4(DYSF): c.5884C> T (p.Gln1962Ter) single nucleotide variant Pathogenic rs1064794020 2:71906303-71906303 2:71679173-71679173
2 DYSF NM_003494.4(DYSF): c.1712_1713insTTCT (p.Lys571fs) insertion Pathogenic rs1553542773 2:71778810-71778811 2:71551680-71551681
3 DYSF NM_003494.4(DYSF): c.4473C> A (p.Cys1491Ter) single nucleotide variant Pathogenic rs778185705 2:71871157-71871157 2:71644027-71644027
4 DYSF NM_003494.4(DYSF): c.5350C> T (p.Gln1784Ter) single nucleotide variant Pathogenic rs1553415109 2:71895893-71895893 2:71668763-71668763
5 DYSF NM_003494.4(DYSF): c.5859_5860inv (p.Glu1954Ter) inversion Pathogenic 2:71906278-71906279 2:71679148-71679149
6 DYSF NM_003494.4(DYSF): c.5821A> T (p.Lys1941Ter) single nucleotide variant Pathogenic rs1553420738 2:71906240-71906240 2:71679110-71679110
7 DYSF NM_003494.3(DYSF): c.3383dup (p.Met1128Ilefs) duplication Pathogenic rs1553370437 2:71816757-71816757 2:71589627-71589627
8 DYSF NM_003494.4(DYSF): c.5200+1G> A single nucleotide variant Pathogenic rs773386253 2:71892435-71892435 2:71665305-71665305
9 DYSF NM_003494.4(DYSF): c.5594del (p.Gly1865fs) deletion Pathogenic rs786205081 2:71896803-71896803 2:71669673-71669673
10 DYSF NM_003494.4(DYSF): c.4872_4876delinsCCCC (p.Glu1624fs) indel Pathogenic rs786200896 2:71887767-71887771 2:71660637-71660641
11 DYSF NM_003494.4(DYSF): c.2372C> G (p.Pro791Arg) single nucleotide variant Pathogenic rs121908956 2:71791204-71791204 2:71564074-71564074
12 DYSF NM_003494.4(DYSF): c.5713C> T (p.Arg1905Ter) single nucleotide variant Pathogenic rs121908959 2:71901372-71901372 2:71674242-71674242
13 DYSF NM_003494.3(DYSF): c.2779del (p.Ala927Leufs) deletion Pathogenic rs727503909 2:71795437-71795437 2:71568307-71568307
14 DYSF NM_003494.4(DYSF): c.1368C> A (p.Cys456Ter) single nucleotide variant Pathogenic rs202044973 2:71762412-71762412 2:71535282-71535282
15 DYSF NM_003494.4(DYSF): c.3444_3445delinsAA (p.Tyr1148_Gly1149delinsTer) indel Pathogenic rs398123781 2:71817342-71817343 2:71590212-71590213
16 DYSF NM_003494.4(DYSF): c.4200dup (p.Ile1401fs) duplication Pathogenic rs398123786 2:71839803-71839803 2:71612673-71612673
17 DYSF NM_003494.4(DYSF): c.4756C> T (p.Arg1586Ter) single nucleotide variant Pathogenic rs398123789 2:71886125-71886125 2:71658995-71658995
18 DYSF NM_003494.4(DYSF): c.5979dup (p.Glu1994fs) duplication Pathogenic rs398123799 2:71908163-71908163 2:71681033-71681033
19 DYSF NM_003494.4(DYSF): c.610C> T (p.Arg204Ter) single nucleotide variant Pathogenic rs373585652 2:71740998-71740998 2:71513868-71513868
20 DYSF NM_003494.4(DYSF): c.5696_5697AG[1] (p.Ser1900fs) short repeat Pathogenic rs398123796 2:71901357-71901358 2:71674227-71674228
21 DYSF NM_003494.4(DYSF): c.937+1G> A single nucleotide variant Pathogenic rs201869739 2:71747339-71747339 2:71520209-71520209
22 DYSF NM_003494.4(DYSF): c.3832C> T (p.Gln1278Ter) single nucleotide variant Pathogenic rs727503911 2:71827961-71827961 2:71600831-71600831
23 DYSF NM_003494.4(DYSF): c.5525+1G> A single nucleotide variant Pathogenic rs727503915 2:71896338-71896338 2:71669208-71669208
24 DYSF NM_003494.4(DYSF): c.3349-2A> G single nucleotide variant Pathogenic rs370874727 2:71816721-71816721 2:71589591-71589591
25 DYSF NM_003494.4(DYSF): c.164dup (p.Ile57fs) duplication Pathogenic rs863225020 2:71709028-71709028 2:71481898-71481898
26 DYSF NM_003494.4(DYSF): c.1834C> T (p.Gln612Ter) single nucleotide variant Pathogenic rs746873768 2:71780222-71780222 2:71553092-71553092
27 DYSF NM_003494.4(DYSF): c.3112C> T (p.Arg1038Ter) single nucleotide variant Pathogenic rs369607332 2:71797809-71797809 2:71570679-71570679
28 DYSF NM_003494.4(DYSF): c.3516_3517del (p.Phe1172_Ser1173insTer) deletion Pathogenic rs766341386 2:71817414-71817415 2:71590284-71590285
29 DYSF NM_003494.4(DYSF): c.156G> A (p.Trp52Ter) single nucleotide variant Pathogenic rs886042641 2:71709020-71709020 2:71481890-71481890
30 DYSF NM_003494.4(DYSF): c.1523-1G> A single nucleotide variant Pathogenic rs189923208 2:71778170-71778170 2:71551040-71551040
31 DYSF NM_003494.4(DYSF): c.4299C> G (p.Tyr1433Ter) single nucleotide variant Pathogenic rs886043145 2:71839902-71839902 2:71612772-71612772
32 DYSF NM_003494.4(DYSF): c.1780_1781del (p.Leu594fs) deletion Pathogenic 2:71780168-71780169 2:71553038-71553039
33 DYSF NM_003494.4(DYSF): c.3687C> A (p.Tyr1229Ter) single nucleotide variant Pathogenic 2:71825860-71825860 2:71598730-71598730
34 DYSF NM_003494.4(DYSF): c.6024_6034del (p.Pro2009_Asn2010insTer) deletion Pathogenic 2:71908208-71908218 2:71681078-71681088
35 DYSF NM_003494.4(DYSF): c.358C> T (p.Gln120Ter) single nucleotide variant Pathogenic 2:71738952-71738952 2:71511822-71511822
36 DYSF NM_003494.3(DYSF): c.2512-1495_3148del deletion Pathogenic 2:71793586-71797845 2:71566456-71570715
37 DYSF NM_003494.4(DYSF): c.5607G> A (p.Trp1869Ter) single nucleotide variant Pathogenic 2:71896816-71896816 2:71669686-71669686
38 DYSF NM_003494.4(DYSF): c.4792A> T (p.Lys1598Ter) single nucleotide variant Pathogenic 2:71886161-71886161 2:71659031-71659031
39 DYSF NM_003494.4(DYSF): c.4969G> T (p.Glu1657Ter) single nucleotide variant Pathogenic 2:71891480-71891480 2:71664350-71664350
40 DYSF NM_003494.4(DYSF): c.5083del (p.Gln1695fs) deletion Pathogenic 2:71892317-71892317 2:71665187-71665187
41 DYSF NM_003494.4(DYSF): c.799_800del (p.Phe267fs) deletion Pathogenic 2:71743314-71743315 2:71516186-71516187
42 DYSF NM_003494.4(DYSF): c.1868del (p.Lys623fs) deletion Pathogenic 2:71780256-71780256 2:71553126-71553126
43 DYSF NM_003494.4(DYSF): c.2016del (p.Ile672fs) deletion Pathogenic 2:71781022-71781022 2:71553892-71553892
44 DYSF NM_003494.4(DYSF): c.3216_3217CT[2] (p.Leu1074fs) short repeat Pathogenic 2:71801369-71801370 2:71574239-71574240
45 DYSF NM_003494.4(DYSF): c.4099C> T (p.Gln1367Ter) single nucleotide variant Pathogenic 2:71838688-71838688 2:71611558-71611558
46 DYSF NM_003494.4(DYSF): c.4390G> T (p.Glu1464Ter) single nucleotide variant Pathogenic 2:71840520-71840520 2:71613390-71613390
47 DYSF NM_003494.4(DYSF): c.3805dup (p.Glu1269fs) duplication Pathogenic 2:71827934-71827934 2:71600804-71600804
48 DYSF NM_003494.4(DYSF): c.4364_4365dup (p.Val1456fs) duplication Pathogenic 2:71840493-71840494 2:71613364-71613365
49 DYSF NM_003494.4(DYSF): c.6049del (p.Asp2017fs) deletion Pathogenic 2:71908233-71908233 2:71681103-71681103
50 DYSF NC_000002.11: g.(?_71795071)_(71797474_?)del deletion Pathogenic 2:71795071-71797474 2:71567941-71570344

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

3 CDC
7 CNVD
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