MCID: DYS030
MIFTS: 32

Dysferlinopathy malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Dysferlinopathy

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Aliases & Descriptions for Dysferlinopathy:

Name: Dysferlinopathy 21 45 22 24 65


Classifications:



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 miyoshi muscular dystrophy 1 and muscular dystrophy, limb-girdle, type 2b. 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:68 Dysferlinopathy is an autosomal recessive neuromuscular disorder caused by a deficiency of functional... more...

GeneReviews summary for miyoshi

Related Diseases for Dysferlinopathy

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1miyoshi muscular dystrophy 130.2CAPN3, DYSF, MYOF
2muscular dystrophy, limb-girdle, type 2b30.2CAPN3, DYSF, MYOF
3myopathy10.4
4muscular dystrophy10.4
5limb-girdle muscular dystrophy10.3
6calpainopathy10.2
7lmna-related muscle diseases10.2CAPN3, DYSF
8sarcoidosis, susceptibility 210.2AQP4, DYSF
9muscular dystrophy, limb-girdle, type 2h10.2CAPN3, DYSF
10cardiomyopathy, hypertrophic, 2510.2CAPN3, DYSF
11muscular dystrophy, limb-girdle, type 1a10.2CAPN3, DYSF
12amphetamine abuse10.2AQP1, AQP4
13miyoshi muscular dystrophy 210.2
14miyoshi muscular dystrophy 310.2
15muscular dystrophy, limb-girdle, type 2a10.2
16muscle disorders10.2
17atrophic muscular disease10.2
18muscular atrophy10.2
19muscle tissue disease10.2
20neuromuscular disease10.2
21polymyositis10.2
22progressive muscular dystrophy10.2
23autosomal recessive limb-girdle muscular dystrophy type 2a10.2
24autosomal recessive limb-girdle muscular dystrophy type 2b10.2
25muscular dystrophy, limb-girdle, type 2f10.2CAPN3, DYSF
26glycogen storage disease 0, muscle10.1CAPN3, DYSF
27muscular dystrophy, limb-girdle, type 2e10.1CAPN3, DYSF
28acute pericementitis10.1CAPN3, DYSF
29discitis10.1AQP1, AQP4
30cartilage disease10.1CAPN3, DYSF
31intracranial sinus thrombosis10.0AQP1, AQP4
32muscle hypertrophy10.0
33skin disease10.0
34skin atrophy10.0
35newcastle disease10.0
36mitral valve insufficiency10.0
37dystrophinopathies10.0
38very long-chain acyl-coenzyme a dehydrogenase deficiency10.0
39sarcoglycanopathies10.0
40neutropenia10.0AQP1, AQP4
41paronychia9.9AQP1, AQP4
42thyrotoxic exophthalmos9.9AQP1, MIP
43meningeal melanoma9.8AQP1, AQP4, MIP
44diabetes insipidus, nephrogenic9.8AQP1, AQP4, MIP
45diverticulitis of colon9.8AQP1, AQP4, MIP
46dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease8.7AQP1, AQP4, CAPN3, DYSF, GPT, MIP

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
Bortezomibapproved, investigational, experimentalPhase 1758179324-69-7387447, 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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Deflazacort in DysferlinopathiesCompletedNCT00527228Phase 2, Phase 3
2Proteasomal Inhibition for Patients With Mis-sense Mutated DysferlinRecruitingNCT01863004Phase 1
3Clinical 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 24 DYSF

Anatomical Context for Dysferlinopathy

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MalaCards organs/tissues related to Dysferlinopathy:

33
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 80)
idTitleAuthorsYear
1
CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy. (26045819)
2015
2
AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models. (25815352)
2015
3
Towards an objective measure of functional disability in dysferlinopathy. (25900324)
2015
4
Respiratory and cardiac function in Japanese patients with dysferlinopathy. (26088049)
2015
5
Late onset dysferlinopathy mimicking treatment resistant polymyositis. (26471412)
2015
6
Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle. (26000923)
2015
7
Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy. (24395438)
2014
8
Involvement of oxidative stress, nuclear factor kappa B and the ubiquitin proteasomal pathway in dysferlinopathy. (24846833)
2014
9
Improved immunoblotting methods provide critical insights into phenotypic differences between two murine dysferlinopathy models. (24639380)
2014
10
Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. (24488599)
2014
11
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. (25591676)
2014
12
Late-onset dysferlinopathy presented as "liver enzyme" abnormalities: a technical note. (25036559)
2014
13
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients. (25046369)
2014
14
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. (23406536)
2013
15
Dysferlinopathy presenting as rhabdomyolysis and acute renal failure. (22550092)
2013
16
An autopsy case of a dysferlinopathy patient with cardiac involvement. (22246893)
2012
17
Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue. (21623088)
2011
18
Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family. (22097235)
2011
19
Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis. (22616201)
2011
20
Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele. (21658164)
2011
21
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). (20092694)
2010
22
Severe respiratory and skeletal muscles involvement in a carrier of dysferlinopathy with chronic obstructive pulmonary disease. (20667157)
2010
23
A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. (20861509)
2010
24
Immunolabelling and flow cytometry as new tools to explore dysferlinopathies. (19854055)
2010
25
One gene, one or many diseases? Simplifying dysferlinopathy. (20574035)
2010
26
Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases. (19309282)
2009
27
A new phenotype of dysferlinopathy with congenital onset. (19084402)
2009
28
Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy. (19439848)
2009
29
Invited commentary. Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy. (19530374)
2009
30
Differential immunohistological features of inflammatory myopathies and dysferlinopathy. (19949654)
2009
31
Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT. (18277035)
2008
32
Twenty-two year follow-up of an Indian family with dysferlinopathy-clinical, immunocytochemical, western blotting and genetic features. (18974570)
2008
33
Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy. (17932988)
2008
34
Diamond on quadriceps: a frequent sign in dysferlinopathy. (18209207)
2008
35
Dysferlinopathy: from gene to protein. (19169097)
2008
36
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. (18641458)
2008
37
Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene. (17825554)
2007
38
Expression of myoferlin in skeletal muscles of patients with dysferlinopathy. (16707852)
2006
39
The inflammatory reaction pattern distinguishes primary dysferlinopathies from idiopathic inflammatory myopathies: an important role for the membrane attack complex. (16862423)
2006
40
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism. (15677541)
2005
41
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display. (15827562)
2005
42
Dysferlinopathy as an extrahepatic cause for the elevation of serum transaminases]. (15221058)
2004
43
A study of clinical and laboratory features of 14 Indian patients with dysferlinopathy. (19078746)
2004
44
Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients. (12767493)
2003
45
Gene expression profiling in dysferlinopathies using a dedicated muscle microarray. (12471055)
2002
46
Clinical heterogeneity in dysferlinopathy. (12132520)
2002
47
Dysferlinopathy. Example of a new myopathy]. (12587341)
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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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:00303159.9CAPN3, 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
1cellular response to salt stressGO:007147210.2AQP1, CAPN3
2plasma membrane repairGO:000177810.0DYSF, MYOF
3multicellular organismal water homeostasisGO:00508919.8AQP1, AQP4
4renal water homeostasisGO:00030919.7AQP1, AQP4
5cellular response to hydrogen peroxideGO:00703019.5AQP1, RELA
6cellular water homeostasisGO:00099929.1AQP1, AQP4, MIP
7glycerol transportGO:00157939.1AQP1, AQP4, MIP
8water transportGO:00068338.8AQP1, AQP4, MIP

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

idNameGO IDScoreTop Affiliating Genes
1water transmembrane transporter activityGO:00053729.9AQP1, AQP4
2water channel activityGO:00152509.0AQP1, AQP4, MIP
3glycerol channel activityGO:00152549.0AQP1, AQP4, MIP
4transporter activityGO:00052158.9AQP1, AQP4, MIP

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