MCID: DYS030
MIFTS: 33

Dysferlinopathy malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Dysferlinopathy

Aliases & Descriptions for Dysferlinopathy:

Name: Dysferlinopathy 23 50 24 29 69

Classifications:



Summaries for Dysferlinopathy

NIH Rare Diseases : 50 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/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 : 71 Dysferlinopathy is an autosomal recessive neuromuscular disorder caused by a deficiency of functional... more...

GeneReviews: NBK1303

Related Diseases for Dysferlinopathy

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

(show all 42)
id Related Disease Score Top Affiliating Genes
1 cerebral hemorrhage 10.2 CAPN3 DYSF
2 congenital heart defects, multiple types, 3 10.2 CAPN3 DYSF
3 pancreatic agenesis 1 10.2 CAPN3 DYSF
4 autosomal dominant limb-girdle muscular dystrophy type 1c 10.2 CAPN3 DYSF
5 asthma-related traits 6 10.2 CAPN3 DYSF
6 autosomal recessive limb-girdle muscular dystrophy type 2x 10.2 CAPN3 DYSF
7 neurodegeneration with brain iron accumulation 6 10.2 CAPN3 DYSF
8 charcot-marie-tooth disease, type 2b2 10.2 CAPN3 DYSF
9 sdhc-related paraganglioma and gastric stromal sarcoma 10.2 AQP4 DYSF
10 spinocerebellar ataxia 11 10.2 CAPN3 DYSF
11 childhood brainstem astrocytoma 10.2 AQP1 AQP4
12 lyme disease 10.2 CAPN3 DYSF
13 superior vena cava syndrome 10.2 AQP1 AQP4
14 ovarian disease 10.1 AQP1 AQP4
15 ullrich congenital muscular dystrophy 1 10.1 CAPN3 DYSF
16 leiomyoma 10.1 AQP1 AQP4
17 hypereosinophilic syndrome, idiopathic, resistant to imatinib 10.1 CAPN3 DYSF
18 malignant hyperthermia susceptibility 10.1 CAPN3 DYSF
19 niemann-pick disease 10.1 AQP1 AQP4
20 autosomal recessive limb-girdle muscular dystrophy type 2h 10.1 CAPN3 DYSF
21 xanthinuria, type i 10.1 MYOF OTOF
22 myopathy 10.0
23 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 10.0 CAPN3 DYSF MYOF
24 autosomal recessive limb-girdle muscular dystrophy type 2w 10.0 CAPN3 DYSF MYOF
25 myopathy, distal, with anterior tibial onset 10.0 CAPN3 DYSF MYOF
26 prediabetes syndrome 10.0 AQP1 MIP
27 charcot-marie-tooth disease 2a2b 10.0 AQP4 MIP
28 uterine corpus cancer 9.9 AQP1 AQP4
29 muscular dystrophy 9.9
30 urethral gland abscess 9.9 AQP1 AQP4 MIP
31 basal cell carcinoma 4 9.9 AQP1 AQP4 MIP
32 histiocytoid hemangioma 9.9 AQP1 AQP4 MIP
33 limb-girdle muscular dystrophy 9.8
34 polymyositis 9.8
35 muscle hypertrophy 9.7
36 calpainopathy 9.7
37 autosomal recessive congenital ichthyosis 9.7
38 ichthyosis 9.7
39 dystrophinopathies 9.7
40 idiopathic inflammatory myopathy 9.7
41 sarcoglycanopathies 9.7
42 ehlers-danlos syndrome, kyphoscoliotic form 8.8 AQP1 AQP4 CAPN3 DYSF GPT 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):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Deflazacort Approved 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:


id Name Status NCT ID Phase
1 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3
2 rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies Recruiting NCT02710500 Phase 1
3 Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin Recruiting NCT01863004 Phase 1
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:

id Genetic test Affiliating Genes
1 Dysferlinopathy 29 24 DYSF

Anatomical Context for Dysferlinopathy

MalaCards organs/tissues related to Dysferlinopathy:

39
Skeletal Muscle, Monocytes, Liver

Publications for Dysferlinopathy

Articles related to Dysferlinopathy:

(show top 50) (show all 94)
id Title Authors Year
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

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:

id 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:

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

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

id Name GO ID Score Top Affiliating Genes
1 transporter activity GO:0005215 9.33 AQP1 AQP4 MIP
2 water transmembrane transporter activity GO:0005372 8.96 AQP1 AQP4
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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