MCID: DYS030
MIFTS: 38

Dysferlinopathy malady

Summaries for Dysferlinopathy

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42NIH Rare Diseases, 63Wikipedia, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 myopathy and muscular dystrophy. 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:63 Dysferlinopathy is an autosomal recessive neuromuscular disorder caused by a deficiency of functional... more...

GeneReviews summary for miyoshi

Aliases & Classifications for Dysferlinopathy

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS
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Aliases & Descriptions:

dysferlinopathy 19 42 20 22 60


Related Diseases for Dysferlinopathy

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



Diseases related to dysferlinopathy

Clinical Features for Dysferlinopathy

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Drugs & Therapeutics for Dysferlinopathy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Dysferlinopathy

Drug clinical trials:

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Search NIH Clinical Center for Dysferlinopathy

Search CenterWatch for Dysferlinopathy

Genetic Tests for Dysferlinopathy

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20GeneTests, 22GTR
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Genetic tests related to Dysferlinopathy:

id Genetic test Affiliating Genes
1 Dysferlinopathy20 22 DYSF

Anatomical Context for Dysferlinopathy

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32MalaCards
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MalaCards organs/tissues related to Dysferlinopathy:

32
Skeletal muscle, Monocytes

Animal Models for Dysferlinopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Dysferlinopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.9AQP4, OTOF, DYSF, CAPN3
2MP:00053698.0CAPN3, DYSF, MYOF, SLN, TCAP
3MP:00053857.6AQP4, AQP1, TCAP, SLN, MYOF, CAPN3

Publications for Dysferlinopathy

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50PubMed
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Articles related to Dysferlinopathy:

(show top 50)    (show all 65)
idTitleAuthorsYear
1
Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy. (24395438)
2014
2
Dysferlinopathy presenting as rhabdomyolysis and acute renal failure. (22550092)
2013
3
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy. (23254335)
2013
4
Dysferlin and animal models for dysferlinopathy. (22907980)
2012
5
Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy. (22367358)
2012
6
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
7
Heterogeneous characteristics of Korean patients with dysferlinopathy. (22468107)
2012
8
Distinct effects of contraction-induced injury in vivo on four different murine models of dysferlinopathy. (22431915)
2012
9
Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. (22666441)
2012
10
Bent spine syndrome: a phenotype of dysferlinopathy or a symptomatic DYSF gene mutation carrier. (22517428)
2012
11
Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue. (21623088)
2011
12
Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family. (22097235)
2011
13
Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis. (22616201)
2011
14
Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele. (21658164)
2011
15
Dysferlinopathy course and sportive activity: clues for possible treatment. (22106716)
2011
16
Muscle membrane repair and inflammatory attack in dysferlinopathy. (21798087)
2011
17
Translational research and therapeutic perspectives in dysferlinopathies. (21556485)
2011
18
Immunolabelling and flow cytometry as new tools to explore dysferlinopathies. (19854055)
2010
19
One gene, one or many diseases? Simplifying dysferlinopathy. (20574035)
2010
20
Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. (20574037)
2010
21
Rapid screening for Japanese dysferlinopathy by fluorescent primer extension. (21173544)
2010
22
Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy. (21364666)
2010
23
Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases. (19309282)
2009
24
A new phenotype of dysferlinopathy with congenital onset. (19084402)
2009
25
Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy. (19439848)
2009
26
Invited commentary. Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy. (19530374)
2009
27
Differential immunohistological features of inflammatory myopathies and dysferlinopathy. (19949654)
2009
28
Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. (19154541)
2009
29
Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT. (18277035)
2008
30
Twenty-two year follow-up of an Indian family with dysferlinopathy-clinical, immunocytochemical, western blotting and genetic features. (18974570)
2008
31
Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy. (17932988)
2008
32
Diamond on quadriceps: a frequent sign in dysferlinopathy. (18209207)
2008
33
Dysferlinopathy: from gene to protein. (19169097)
2008
34
Dysferlinopathy: a clinical and histopathological study of 28 patients from India. (18974568)
2008
35
Late onset in dysferlinopathy widens the clinical spectrum. (18396043)
2008
36
Dysferlinopathies. (18974555)
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
A case of dysferlinopathy presenting choreic movements. (16817213)
2006
41
Proteomic investigation of the molecular pathophysiology of dysferlinopathy. (16302276)
2006
42
Dysferlinopathy as an extrahepatic cause for the elevation of serum transaminases]. (15221058)
2004
43
Dysferlinopathy associated with rigid spine syndrome. (15641596)
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
Different phenotypes in dysferlinopathy. (12132514)
2002
48
The earliest pathologic alterations in dysferlinopathy. (11402103)
2001
49
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). (11053681)
2000
50
Dysferlinopathy (20301480)
1993

Genetic Variations for Dysferlinopathy

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Expression for genes affiliated with Dysferlinopathy

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

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Pathways for genes affiliated with Dysferlinopathy

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29KEGG, 53Reactome
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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

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Dysferlinopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vas-a449.6AQP1, AQP4
2mercury449.3AQP4, AQP1
3urea44 11 2410.9AQP4, AQP1, GPT
4potassium44 11 2410.8AQP4, AQP1, GPT
5chloride448.7AQP4, AQP1, GPT
6creatinine448.5AQP1, GPT, DYSF, CAPN3

GO Terms for genes affiliated with Dysferlinopathy

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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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Sources for Dysferlinopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet