MCID: DYS030
MIFTS: 34

Dysferlinopathy malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Dysferlinopathy

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Aliases & Descriptions for Dysferlinopathy:

Name: Dysferlinopathy 21 45 22 24 65

Classifications:



External Ids:

UMLS65 C2931687

Summaries for Dysferlinopathy

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NIH Rare Diseases:45 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 limb-girdle muscular dystrophy and sarcoidosis, susceptibility 2. An important gene associated with Dysferlinopathy is DYSF (Dysferlin), and among its related pathways is Bile secretion. Affiliated tissues include liver, b cells and myeloid, and related mouse phenotypes are no phenotypic analysis and cardiovascular system.

Wikipedia:68 Dysferlinopathy is an autosomal recessive neuromuscular disorder caused by a deficiency of functional... more...

GeneReviews summary 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 34)
idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy30.4CAPN3, DYSF
2sarcoidosis, susceptibility 210.4AQP4, DYSF
3subpulmonary stenosis10.4AQP1, AQP4
4acral lentiginous melanoma10.4AQP1, AQP4
5lmna-related muscle diseases10.4CAPN3, DYSF
6bardet-biedl syndrome 1110.4CAPN3, DYSF
7cardiomyopathy, hypertrophic, 2510.4CAPN3, DYSF
8myopathy, myofibrillar, 310.3CAPN3, DYSF
9cardiomyopathy, dilated, 1l10.3CAPN3, DYSF
10glycogen storage disease 0, muscle10.3CAPN3, DYSF
11immature cataract10.3AQP1, AQP4
12mast cell disease10.3CAPN3, DYSF
13cartilage disease10.3CAPN3, DYSF
14neutropenia10.2AQP1, AQP4
15gonadal dysgenesis10.2AQP1, AQP4
16lingual-facial-buccal dyskinesia10.2AQP1, AQP4
17myopathy10.2
18chronic cholangitis10.1AQP1, AQP4
19palmoplantar keratoderma, bothnian type10.1AQP1, AQP4
20autonomic nervous system disease10.1AQP1, AQP4
21muscular dystrophy10.1
22polymyositis10.0
23kummell's disease10.0CAPN3, DYSF
24muscle hypertrophy9.8
25calpainopathy9.8
26autosomal recessive congenital ichthyosis9.8
27dystrophinopathies9.8
28very long-chain acyl-coenzyme a dehydrogenase deficiency9.8
29idiopathic inflammatory myopathy9.8
30sarcoglycanopathies9.8
31miyoshi muscular dystrophy 19.8CAPN3, DYSF, MYOF
32muscular dystrophy, limb-girdle, type 2b9.8CAPN3, DYSF, MYOF
33vasomotor rhinitis9.8AQP1, AQP4
34dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease7.3AQP1, AQP4, CAPN3, DYSF, GPT, MYOF

Graphical network of the top 20 diseases related to Dysferlinopathy:



Diseases related to dysferlinopathy

Symptoms 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):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunosuppressive AgentsPhase 2, Phase 310422
2Anti-Inflammatory AgentsPhase 2, Phase 38478
3Immunologic FactorsPhase 2, Phase 318483
4DeflazacortPhase 2, Phase 31214484-47-0
5
Bortezomibapproved, investigational, experimentalPhase 1769179324-69-7387447, 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
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-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
6VaccinesPhase 16085

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 Dysferlinopathy22 DYSF

Anatomical Context for Dysferlinopathy

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MalaCards organs/tissues related to Dysferlinopathy:

33
Liver, B cells, Myeloid, Breast, Skeletal muscle, Endothelial, Pituitary

Animal Models for Dysferlinopathy or affiliated genes

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MGI Mouse Phenotypes related to Dysferlinopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.8AQP4, CAPN3, DYSF, OTOF
2MP:00053858.1AQP1, AQP4, CAPN3, MYOF, RELA

Publications for Dysferlinopathy

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Articles related to Dysferlinopathy:

(show top 50)    (show all 89)
idTitleAuthorsYear
1
Broadening The Imaging Phenotype of Dysferlinopathy at Different Disease Stages. (26800485)
2016
2
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. (26620441)
2016
3
CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy. (26045819)
2015
4
AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models. (25815352)
2015
5
Towards an objective measure of functional disability in dysferlinopathy. (25900324)
2015
6
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. (27066573)
2015
7
Respiratory and cardiac function in Japanese patients with dysferlinopathy. (26088049)
2015
8
Late onset dysferlinopathy mimicking treatment resistant polymyositis. (26471412)
2015
9
Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair. (26579332)
2015
10
LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing. (27066575)
2015
11
Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle. (26000923)
2015
12
Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy. (24395438)
2014
13
Involvement of oxidative stress, nuclear factor kappa B and the ubiquitin proteasomal pathway in dysferlinopathy. (24846833)
2014
14
Improved immunoblotting methods provide critical insights into phenotypic differences between two murine dysferlinopathy models. (24639380)
2014
15
Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. (24488599)
2014
16
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. (25591676)
2014
17
Late-onset dysferlinopathy presented as "liver enzyme" abnormalities: a technical note. (25036559)
2014
18
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients. (25046369)
2014
19
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. (23406536)
2013
20
Dysferlinopathy presenting as rhabdomyolysis and acute renal failure. (22550092)
2013
21
Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue. (21623088)
2011
22
Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family. (22097235)
2011
23
Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis. (22616201)
2011
24
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). (20092694)
2010
25
Severe respiratory and skeletal muscles involvement in a carrier of dysferlinopathy with chronic obstructive pulmonary disease. (20667157)
2010
26
A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. (20861509)
2010
27
Immunolabelling and flow cytometry as new tools to explore dysferlinopathies. (19854055)
2010
28
One gene, one or many diseases? Simplifying dysferlinopathy. (20574035)
2010
29
Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases. (19309282)
2009
30
A new phenotype of dysferlinopathy with congenital onset. (19084402)
2009
31
Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy. (19439848)
2009
32
Invited commentary. Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy. (19530374)
2009
33
Differential immunohistological features of inflammatory myopathies and dysferlinopathy. (19949654)
2009
34
Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT. (18277035)
2008
35
Twenty-two year follow-up of an Indian family with dysferlinopathy-clinical, immunocytochemical, western blotting and genetic features. (18974570)
2008
36
Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy. (17932988)
2008
37
Diamond on quadriceps: a frequent sign in dysferlinopathy. (18209207)
2008
38
Dysferlinopathy: from gene to protein. (19169097)
2008
39
Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene. (17825554)
2007
40
Expression of myoferlin in skeletal muscles of patients with dysferlinopathy. (16707852)
2006
41
The inflammatory reaction pattern distinguishes primary dysferlinopathies from idiopathic inflammatory myopathies: an important role for the membrane attack complex. (16862423)
2006
42
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism. (15677541)
2005
43
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display. (15827562)
2005
44
Dysferlinopathy as an extrahepatic cause for the elevation of serum transaminases]. (15221058)
2004
45
Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients. (12767493)
2003
46
Gene expression profiling in dysferlinopathies using a dedicated muscle microarray. (12471055)
2002
47
Clinical heterogeneity in dysferlinopathy. (12132520)
2002
48
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. (11166162)
2001
49
The earliest pathologic alterations in dysferlinopathy. (11402103)
2001
50
Dysferlinopathy (20301480)
1993

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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Pathways related to Dysferlinopathy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7AQP1, AQP4

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
1T-tubuleGO:00303159.7CAPN3, DYSF

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to hydrogen peroxideGO:007030110.1AQP1, RELA
2cellular response to salt stressGO:007147210.1AQP1, CAPN3
3glycerol transportGO:001579310.0AQP1, AQP4
4positive regulation of NF-kappaB transcription factor activityGO:00510929.5CAPN3, RELA
5negative regulation of apoptotic processGO:00430669.1AQP1, CAPN3, RELA

Sources for Dysferlinopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet