MCID: DYS030
MIFTS: 33

Dysferlinopathy malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Dysferlinopathy

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Aliases & Descriptions for Dysferlinopathy:

Name: Dysferlinopathy 23 48 24 27 68

Classifications:



Summaries for Dysferlinopathy

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NIH Rare Diseases:48 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 is related to cerebral hemorrhage and congenital heart defects, multiple types, 3. An important gene associated with Dysferlinopathy is DYSF (Dysferlin), and among its related pathways are Bile secretion and Aquaporin-mediated transport. Affiliated tissues include skeletal muscle, monocytes and liver.

Wikipedia:71 Dysferlinopathy is an autosomal recessive neuromuscular disorder caused by a deficiency of functional... more...

GeneReviews for NBK1303

Related Diseases for Dysferlinopathy

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral hemorrhage10.2CAPN3, DYSF
2congenital heart defects, multiple types, 310.2CAPN3, DYSF
3pancreatic agenesis 110.2CAPN3, DYSF
4autosomal dominant limb-girdle muscular dystrophy type 1c10.2CAPN3, DYSF
5asthma-related traits 610.2CAPN3, DYSF
6autosomal recessive limb-girdle muscular dystrophy type 2x10.2CAPN3, DYSF
7neurodegeneration with brain iron accumulation 610.2CAPN3, DYSF
8charcot-marie-tooth disease, type 2b210.2CAPN3, DYSF
9sdhc-related paraganglioma and gastric stromal sarcoma10.2AQP4, DYSF
10spinocerebellar ataxia 1110.2CAPN3, DYSF
11childhood brainstem astrocytoma10.2AQP1, AQP4
12lyme disease10.2CAPN3, DYSF
13superior vena cava syndrome10.2AQP1, AQP4
14ovarian disease10.1AQP1, AQP4
15ullrich congenital muscular dystrophy 110.1CAPN3, DYSF
16leiomyoma10.1AQP1, AQP4
17hypereosinophilic syndrome, idiopathic, resistant to imatinib10.1CAPN3, DYSF
18malignant hyperthermia susceptibility10.1CAPN3, DYSF
19niemann-pick disease10.1AQP1, AQP4
20autosomal recessive limb-girdle muscular dystrophy type 2h10.1CAPN3, DYSF
21xanthinuria, type i10.1MYOF, OTOF
22myopathy10.0
23craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies10.0CAPN3, DYSF, MYOF
24autosomal recessive limb-girdle muscular dystrophy type 2w10.0CAPN3, DYSF, MYOF
25myopathy, distal, with anterior tibial onset10.0CAPN3, DYSF, MYOF
26prediabetes syndrome10.0AQP1, MIP
27charcot-marie-tooth disease 2a2b10.0AQP4, MIP
28uterine corpus cancer9.9AQP1, AQP4
29muscular dystrophy9.9
30urethral gland abscess9.9AQP1, AQP4, MIP
31basal cell carcinoma 49.9AQP1, AQP4, MIP
32histiocytoid hemangioma9.9AQP1, AQP4, MIP
33limb-girdle muscular dystrophy9.8
34polymyositis9.8
35muscle hypertrophy9.7
36calpainopathy9.7
37autosomal recessive congenital ichthyosis9.7
38ichthyosis9.7
39dystrophinopathies9.7
40idiopathic inflammatory myopathy9.7
41sarcoglycanopathies9.7
42ehlers-danlos syndrome, kyphoscoliotic form8.8AQP1, AQP4, CAPN3, DYSF, GPT, MIP

Graphical network of the top 20 diseases related to Dysferlinopathy:



Diseases related to dysferlinopathy

Symptoms & Phenotypes for Dysferlinopathy

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Drugs & Therapeutics for Dysferlinopathy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1DeflazacortapprovedPhase 2, Phase 31314484-47-0
2Anti-Inflammatory AgentsPhase 2, Phase 310729
3Immunosuppressive AgentsPhase 2, Phase 313086
4
Bortezomibapproved, investigationalPhase 1807179324-69-7387447, 93860
Synonyms:
179324-69-7
AC1L8TUW
Bortezomib
Bortezomib (JAN/USAN/INN)
CHEBI:287372
CHEBI:41143
CHEMBL325041
CID387447
D03150
DB07475
DPBA
FT-0082488
I14-3268
LDP-341
LDP341
LPD 341
LPD-341
 
MLN341
MolPort-003-845-298
N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE
N-[(1R)-1-(DIHYDROXYBORYL)-3-methylbutyl]-N-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
N-[(1R)-1-(dihydroxyboranyl)-3-methylbutyl]-Nalpha-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
NCI60_029010
NSC-681239
NSC681239
PROSCRIPT BORONIC ACID
PS-341
Pyz-Phe-boroLeu
S1013_Selleck
SBB071337
Velcade
Velcade (TN)
Velcade, MG-341, PS-341, Bortezomib
[(1R)-3-methyl-1-({(2S)-3-phenyl-2-[(pyrazin-2-ylcarbonyl)amino]propanoyl}amino)butyl]boronic acid
[(1R)-3-methyl-1-[[(2S)-3-phenyl-2-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
5VaccinesPhase 16611

Interventional clinical trials:

idNameStatusNCT IDPhase
1Deflazacort in DysferlinopathiesCompletedNCT00527228Phase 2, Phase 3
2rAAVrh74.MHCK7.DYSF.DV for Treatment of DysferlinopathiesRecruitingNCT02710500Phase 1
3Proteasomal Inhibition for Patients With Mis-sense Mutated DysferlinRecruitingNCT01863004Phase 1
4Clinical Outcome Study for DysferlinopathyActive, not recruitingNCT01676077

Search NIH Clinical Center for Dysferlinopathy

Genetic Tests for Dysferlinopathy

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Genetic tests related to Dysferlinopathy:

id Genetic test Affiliating Genes
1 Dysferlinopathy27 24 DYSF

Anatomical Context for Dysferlinopathy

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MalaCards organs/tissues related to Dysferlinopathy:

36
Skeletal muscle, Monocytes, Liver

Publications for Dysferlinopathy

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Articles related to Dysferlinopathy:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
Heterogeneous characteristics of magnetic resonance imaging changes of thigh muscles in patients with dysferlinopathy. (27251469)
2016
2
Broadening The Imaging Phenotype of Dysferlinopathy at Different Disease Stages. (26800485)
2016
3
Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies. (27349407)
2016
4
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. (27647186)
2016
5
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C). (27195159)
2016
6
Progress and challenges in diagnosis of dysferlinopathy. (27501525)
2016
7
The Clinical Outcome Study for dysferlinopathy: An international multicenter study. (27602406)
2016
8
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. (26620441)
2016
9
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy. (25868377)
2015
10
Dysferlinopathy in Iran: Clinical and genetic report. (26671124)
2015
11
LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing. (27066575)
2015
12
Genome-wide expression analysis comparing hypertrophic changes in normal and dysferlinopathy mice. (26697388)
2015
13
AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models. (25815352)
2015
14
Respiratory and cardiac function in Japanese patients with dysferlinopathy. (26088049)
2015
15
Towards an objective measure of functional disability in dysferlinopathy. (25900324)
2015
16
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. (26444858)
2015
17
Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair. (26579332)
2015
18
Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy. (26206886)
2015
19
CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy. (26045819)
2015
20
Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle. (26000923)
2015
21
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. (27066573)
2015
22
Late onset dysferlinopathy mimicking treatment resistant polymyositis. (26471412)
2015
23
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. (25591676)
2014
24
Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy. (24395438)
2014
25
Late-onset dysferlinopathy presented as "liver enzyme" abnormalities: a technical note. (25036559)
2014
26
Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. (24488599)
2014
27
Improved immunoblotting methods provide critical insights into phenotypic differences between two murine dysferlinopathy models. (24639380)
2014
28
Involvement of oxidative stress, nuclear factor kappa B and the ubiquitin proteasomal pathway in dysferlinopathy. (24846833)
2014
29
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients. (25046369)
2014
30
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
31
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. (23406536)
2013
32
Dysferlinopathy presenting as rhabdomyolysis and acute renal failure. (22550092)
2013
33
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy. (23254335)
2013
34
Dual effects of exercise in dysferlinopathy. (23624156)
2013
35
Dysferlin and animal models for dysferlinopathy. (22907980)
2012
36
Bent spine syndrome: a phenotype of dysferlinopathy or a symptomatic DYSF gene mutation carrier. (22517428)
2012
37
Heterogeneous characteristics of Korean patients with dysferlinopathy. (22468107)
2012
38
Distinct effects of contraction-induced injury in vivo on four different murine models of dysferlinopathy. (22431915)
2012
39
Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy. (22297152)
2012
40
Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. (22666441)
2012
41
Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy. (22367358)
2012
42
An autopsy case of a dysferlinopathy patient with cardiac involvement. (22246893)
2012
43
Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis. (22616201)
2011
44
Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue. (21623088)
2011
45
Dysferlinopathy course and sportive activity: clues for possible treatment. (22106716)
2011
46
Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele. (21658164)
2011
47
Muscle membrane repair and inflammatory attack in dysferlinopathy. (21798087)
2011
48
Translational research and therapeutic perspectives in dysferlinopathies. (21556485)
2011
49
Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family. (22097235)
2011
50
Rapid screening for Japanese dysferlinopathy by fluorescent primer extension. (21173544)
2010

Variations for Dysferlinopathy

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Expression for genes affiliated with Dysferlinopathy

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Search GEO for disease gene expression data for Dysferlinopathy.

Pathways for genes affiliated with Dysferlinopathy

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GO Terms for genes affiliated with Dysferlinopathy

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

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:001632310.0AQP1, AQP4, OTOF
2T-tubuleGO:00303159.8CAPN3, DYSF
3plasma membraneGO:00058867.5AQP1, AQP4, CAPN3, DYSF, MIP, MYOF

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to salt stressGO:007147210.2AQP1, CAPN3
2multicellular organismal water homeostasisGO:005089110.2AQP1, AQP4
3cellular response to hydrogen peroxideGO:007030110.1AQP1, RELA
4renal water homeostasisGO:000309110.0AQP1, AQP4
5plasma membrane repairGO:000177810.0DYSF, MYOF
6water transportGO:00068338.9AQP1, AQP4, MIP

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

idNameGO IDScoreTop Affiliating Genes
1water transmembrane transporter activityGO:00053729.7AQP1, AQP4
2transporter activityGO:00052159.2AQP1, AQP4, MIP
3water channel activityGO:00152509.0AQP1, AQP4, MIP

Sources for Dysferlinopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet