MCID: DYS030
MIFTS: 32

Dysferlinopathy malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Dysferlinopathy

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Aliases & Descriptions for Dysferlinopathy:

Name: Dysferlinopathy 22 46 23 25 66

Classifications:



Summaries for Dysferlinopathy

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NIH Rare Diseases:46 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 dystrophinopathies and cataract. 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:69 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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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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1DeflazacortPhase 2, Phase 31214484-47-0
2
BortezomibPhase 1783179324-69-7387447, 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

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 Dysferlinopathy25 23 DYSF

Anatomical Context for Dysferlinopathy

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MalaCards organs/tissues related to Dysferlinopathy:

34
Skeletal muscle, Monocytes, Liver

Animal Models for Dysferlinopathy or affiliated genes

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Publications for Dysferlinopathy

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Articles related to Dysferlinopathy:

(show top 50)    (show all 93)
idTitleAuthorsYear
1
Progress and challenges in diagnosis of dysferlinopathy. (27501525)
2016
2
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. (26620441)
2016
3
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. (27647186)
2016
4
The Clinical Outcome Study for dysferlinopathy: An international multicenter study. (27602406)
2016
5
AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models. (25815352)
2015
6
Late onset dysferlinopathy mimicking treatment resistant polymyositis. (26471412)
2015
7
Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair. (26579332)
2015
8
LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing. (27066575)
2015
9
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy. (25868377)
2015
10
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. (26444858)
2015
11
Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy. (26206886)
2015
12
CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy. (26045819)
2015
13
Towards an objective measure of functional disability in dysferlinopathy. (25900324)
2015
14
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. (27066573)
2015
15
Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy. (24395438)
2014
16
Improved immunoblotting methods provide critical insights into phenotypic differences between two murine dysferlinopathy models. (24639380)
2014
17
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients. (25046369)
2014
18
Dual effects of exercise in dysferlinopathy. (23624156)
2013
19
An autopsy case of a dysferlinopathy patient with cardiac involvement. (22246893)
2012
20
Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy. (22367358)
2012
21
Distinct effects of contraction-induced injury in vivo on four different murine models of dysferlinopathy. (22431915)
2012
22
Bent spine syndrome: a phenotype of dysferlinopathy or a symptomatic DYSF gene mutation carrier. (22517428)
2012
23
Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele. (21658164)
2011
24
Muscle membrane repair and inflammatory attack in dysferlinopathy. (21798087)
2011
25
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). (20092694)
2010
26
Severe respiratory and skeletal muscles involvement in a carrier of dysferlinopathy with chronic obstructive pulmonary disease. (20667157)
2010
27
A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. (20861509)
2010
28
Immunolabelling and flow cytometry as new tools to explore dysferlinopathies. (19854055)
2010
29
Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases. (19309282)
2009
30
Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy. (19439848)
2009
31
Invited commentary. Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy. (19530374)
2009
32
Differential immunohistological features of inflammatory myopathies and dysferlinopathy. (19949654)
2009
33
Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy. (17932988)
2008
34
Dysferlinopathy: from gene to protein. (19169097)
2008
35
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. (18641458)
2008
36
Late onset in dysferlinopathy widens the clinical spectrum. (18396043)
2008
37
Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. (18392839)
2008
38
Dysferlinopathies. (18974555)
2008
39
Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT. (18277035)
2008
40
The inflammatory reaction pattern distinguishes primary dysferlinopathies from idiopathic inflammatory myopathies: an important role for the membrane attack complex. (16862423)
2006
41
A case of dysferlinopathy presenting choreic movements. (16817213)
2006
42
Proteomic investigation of the molecular pathophysiology of dysferlinopathy. (16302276)
2006
43
Dysferlinopathy as an extrahepatic cause for the elevation of serum transaminases]. (15221058)
2004
44
A study of clinical and laboratory features of 14 Indian patients with dysferlinopathy. (19078746)
2004
45
Dysferlinopathy associated with rigid spine syndrome. (15641596)
2004
46
Clinical heterogeneity in dysferlinopathy. (12132520)
2002
47
Dysferlinopathy. Example of a new myopathy]. (12587341)
2002
48
Different phenotypes in dysferlinopathy. (12132514)
2002
49
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. (11166162)
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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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:003031510.1CAPN3, DYSF
2basolateral plasma membraneGO:00163239.3AQP1, AQP4, OTOF

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1multicellular organismal water homeostasisGO:005089110.0AQP1, AQP4
2cellular response to salt stressGO:00714729.9AQP1, CAPN3
3glycerol transportGO:00157939.6AQP1, AQP4, MIP
4cellular water homeostasisGO:00099929.6AQP1, AQP4, MIP
5cellular response to hydrogen peroxideGO:00703019.5AQP1, RELA
6plasma membrane repairGO:00017789.5DYSF, MYOF
7water transportGO:00068339.5AQP1, AQP4, MIP
8renal water homeostasisGO:00030919.4AQP1, AQP4

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

idNameGO IDScoreTop Affiliating Genes
1water transmembrane transporter activityGO:00053729.6AQP1, AQP4
2glycerol channel activityGO:00152549.2AQP1, AQP4, MIP
3water channel activityGO:00152508.9AQP1, AQP4, MIP

Sources for Dysferlinopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet