MCID: DYS030
MIFTS: 36

Dysferlinopathy malady

Summaries for Dysferlinopathy

Sources:
43NIH Rare Diseases, 64Wikipedia, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Dysferlinopathy is related to miyoshi myopathy and calpainopathy. An important gene associated with Dysferlinopathy is DYSF (dysferlin), and among its related pathways are Bile secretion and Passive Transport by Aquaporins. The compounds vas-a and mercury have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and monocytes, and related mouse phenotypes are no phenotypic analysis and muscle.

Wikipedia:64 Dysferlinopathy is an autosomal recessive neuromuscular disorder caused by a deficiency of functional... more...

GeneReviews summary for miyoshi

Aliases & Classifications for Dysferlinopathy

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS
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Aliases & Descriptions:

dysferlinopathy 19 43 20 22 61


Related Diseases for Dysferlinopathy

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Dysferlinopathy:



Diseases related to dysferlinopathy

Clinical Features for Dysferlinopathy

Drugs & Therapeutics for Dysferlinopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Dysferlinopathy

Sources:
20GeneTests, 22GTR
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Genetic tests related to Dysferlinopathy:

id Genetic test Affiliating Genes
1 Dysferlinopathy20 22 DYSF

Anatomical Context for Dysferlinopathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Dysferlinopathy:

33
Skeletal muscle, Monocytes

Animal Models for Dysferlinopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Dysferlinopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.9CAPN3, DYSF, AQP4, OTOF
2MP:00053698.0DYSF, MYOF, SLN, TCAP, CAPN3
3MP:00053857.6AQP4, CAPN3, MYOF, SLN, TCAP, AQP1

Publications for Dysferlinopathy

Sources:
51PubMed
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Articles related to Dysferlinopathy:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy. (24395438)
2014
2
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. (23406536)
2013
3
Dysferlinopathy presenting as rhabdomyolysis and acute renal failure. (22550092)
2013
4
Dual effects of exercise in dysferlinopathy. (23624156)
2013
5
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy. (23254335)
2013
6
An autopsy case of a dysferlinopathy patient with cardiac involvement. (22246893)
2012
7
Dysferlin and animal models for dysferlinopathy. (22907980)
2012
8
Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy. (22367358)
2012
9
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
10
Heterogeneous characteristics of Korean patients with dysferlinopathy. (22468107)
2012
11
Distinct effects of contraction-induced injury in vivo on four different murine models of dysferlinopathy. (22431915)
2012
12
Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. (22666441)
2012
13
Bent spine syndrome: a phenotype of dysferlinopathy or a symptomatic DYSF gene mutation carrier. (22517428)
2012
14
Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue. (21623088)
2011
15
Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family. (22097235)
2011
16
Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis. (22616201)
2011
17
Dysferlinopathy course and sportive activity: clues for possible treatment. (22106716)
2011
18
Muscle membrane repair and inflammatory attack in dysferlinopathy. (21798087)
2011
19
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). (20092694)
2010
20
Severe respiratory and skeletal muscles involvement in a carrier of dysferlinopathy with chronic obstructive pulmonary disease. (20667157)
2010
21
A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. (20861509)
2010
22
One gene, one or many diseases? Simplifying dysferlinopathy. (20574035)
2010
23
Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. (20574037)
2010
24
Rapid screening for Japanese dysferlinopathy by fluorescent primer extension. (21173544)
2010
25
Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases. (19309282)
2009
26
A new phenotype of dysferlinopathy with congenital onset. (19084402)
2009
27
Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy. (19439848)
2009
28
Invited commentary. Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy. (19530374)
2009
29
Differential immunohistological features of inflammatory myopathies and dysferlinopathy. (19949654)
2009
30
Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT. (18277035)
2008
31
Twenty-two year follow-up of an Indian family with dysferlinopathy-clinical, immunocytochemical, western blotting and genetic features. (18974570)
2008
32
Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy. (17932988)
2008
33
Diamond on quadriceps: a frequent sign in dysferlinopathy. (18209207)
2008
34
Dysferlinopathy: from gene to protein. (19169097)
2008
35
Dysferlinopathy: a clinical and histopathological study of 28 patients from India. (18974568)
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
Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene. (17825554)
2007
39
Expression of myoferlin in skeletal muscles of patients with dysferlinopathy. (16707852)
2006
40
A case of dysferlinopathy presenting choreic movements. (16817213)
2006
41
Proteomic investigation of the molecular pathophysiology of dysferlinopathy. (16302276)
2006
42
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display. (15827562)
2005
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
Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients. (12767493)
2003
47
Clinical heterogeneity in dysferlinopathy. (12132520)
2002
48
Dysferlinopathy. Example of a new myopathy]. (12587341)
2002
49
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. (11166162)
2001
50
The earliest pathologic alterations in dysferlinopathy. (11402103)
2001

Genetic Variations for Dysferlinopathy

Expression for genes affiliated with Dysferlinopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dysferlinopathy

Search GEO for disease gene expression data for Dysferlinopathy.

Pathways for genes affiliated with Dysferlinopathy

Sources:
30KEGG, 54Reactome
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Pathways related to Dysferlinopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6AQP4, AQP1
29.6AQP4, AQP1

Compounds for genes affiliated with Dysferlinopathy

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Dysferlinopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vas-a459.6AQP1, AQP4
2mercury459.3AQP4, AQP1
3urea45 11 2410.9AQP4, AQP1, GPT
4potassium45 11 2410.8AQP4, AQP1, GPT
5chloride458.7AQP4, AQP1, GPT
6creatinine458.5AQP1, GPT, DYSF, CAPN3

GO Terms for genes affiliated with Dysferlinopathy

Sources:
16Gene Ontology
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Cellular components related to Dysferlinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163239.1AQP4, AQP1, OTOF
2T-tubuleGO:0303159.1AQP4, DYSF, CAPN3

Biological processes related to Dysferlinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular response to salt stressGO:0714729.7AQP1, CAPN3
2multicellular organismal water homeostasisGO:0508919.7AQP4, AQP1
3carbon dioxide transportGO:0156709.6AQP4, AQP1
4water transportGO:0068339.6AQP4, AQP1
5plasma membrane repairGO:0017789.4DYSF, MYOF
6sarcomere organizationGO:0452149.4TCAP, CAPN3

Molecular functions related to Dysferlinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:0083079.7TCAP, CAPN3
2water transmembrane transporter activityGO:0053729.5AQP4, AQP1
3titin bindingGO:0314329.4TCAP, CAPN3

Products for genes affiliated with Dysferlinopathy

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  • Proteins
  • Lysates
  • Antibodies

Sources for Dysferlinopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet