MCID: DYS030
MIFTS: 42

Dysferlinopathy malady

Genetic diseases, Rare diseases categories
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Summaries for Dysferlinopathy

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43NIH Rare Diseases, 65Wikipedia, 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 myopathy and muscular dystrophy. An important gene associated with Dysferlinopathy is DYSF (dysferlin), and among its related pathways are Spinal Cord Injury and Regulation of Water Balance by Renal 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 hearing/vestibular/ear and no phenotypic analysis.

Wikipedia:65 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, 43NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

dysferlinopathy 19 43 20 22 62


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

Symptoms for Dysferlinopathy

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Drugs & Therapeutics for Dysferlinopathy

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Dysferlinopathy

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Dysferlinopathy:

33
Skeletal muscle, Monocytes

Animal Models for Dysferlinopathy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Dysferlinopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7AQP4, AQP1, OTOF
2MP:00030128.4OTOF, DYSF, CAPN3, AQP4
3MP:00053858.3CAPN3, MYOF, AQP1, AQP4

Publications for Dysferlinopathy

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52PubMed
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Articles related to Dysferlinopathy:

(show top 50)    (show all 64)
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
An autopsy case of a dysferlinopathy patient with cardiac involvement. (22246893)
2012
5
Dysferlin and animal models for dysferlinopathy. (22907980)
2012
6
Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy. (22367358)
2012
7
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
8
Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue. (21623088)
2011
9
Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family. (22097235)
2011
10
Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis. (22616201)
2011
11
Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele. (21658164)
2011
12
Dysferlinopathy course and sportive activity: clues for possible treatment. (22106716)
2011
13
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). (20092694)
2010
14
Severe respiratory and skeletal muscles involvement in a carrier of dysferlinopathy with chronic obstructive pulmonary disease. (20667157)
2010
15
A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. (20861509)
2010
16
Immunolabelling and flow cytometry as new tools to explore dysferlinopathies. (19854055)
2010
17
One gene, one or many diseases? Simplifying dysferlinopathy. (20574035)
2010
18
Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. (20574037)
2010
19
Novel diagnostic features of dysferlinopathies. (20544924)
2010
20
Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases. (19309282)
2009
21
A new phenotype of dysferlinopathy with congenital onset. (19084402)
2009
22
Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy. (19439848)
2009
23
Invited commentary. Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy. (19530374)
2009
24
Differential immunohistological features of inflammatory myopathies and dysferlinopathy. (19949654)
2009
25
Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. (19154541)
2009
26
Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT. (18277035)
2008
27
Twenty-two year follow-up of an Indian family with dysferlinopathy-clinical, immunocytochemical, western blotting and genetic features. (18974570)
2008
28
Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy. (17932988)
2008
29
Diamond on quadriceps: a frequent sign in dysferlinopathy. (18209207)
2008
30
Dysferlinopathy: from gene to protein. (19169097)
2008
31
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. (18641458)
2008
32
Dysferlinopathy: a clinical and histopathological study of 28 patients from India. (18974568)
2008
33
Late onset in dysferlinopathy widens the clinical spectrum. (18396043)
2008
34
Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene. (17825554)
2007
35
Expression of myoferlin in skeletal muscles of patients with dysferlinopathy. (16707852)
2006
36
The inflammatory reaction pattern distinguishes primary dysferlinopathies from idiopathic inflammatory myopathies: an important role for the membrane attack complex. (16862423)
2006
37
A case of dysferlinopathy presenting choreic movements. (16817213)
2006
38
Proteomic investigation of the molecular pathophysiology of dysferlinopathy. (16302276)
2006
39
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism. (15677541)
2005
40
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display. (15827562)
2005
41
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. (16010686)
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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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database, 55Reactome, 60Thomson Reuters, 30KEGG
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Pathways related to Dysferlinopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6AQP1, AQP4
2
Show member pathways
9.6AQP1, AQP4
39.6AQP1, AQP4

Compounds for genes affiliated with Dysferlinopathy

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

idCompoundScoreTop Affiliating Genes
1vas-a459.8AQP1, AQP4
2mercury459.7AQP4, AQP1
3mannitol45 1110.6AQP1, AQP4
4bicarbonate459.5AQP1, AQP4
5urea45 24 1111.3GPT, AQP4, AQP1
6chloride459.2AQP1, AQP4, GPT
7asparagine459.2AQP1, GPT
8potassium45 24 1111.2AQP1, AQP4, GPT
9sodium45 2410.1GPT, AQP4, AQP1
10creatinine458.8DYSF, CAPN3, AQP1, GPT

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
1sarcolemmaGO:0423839.6DYSF, AQP1
2T-tubuleGO:0303159.3DYSF, CAPN3, AQP4
3cytoplasmic vesicle membraneGO:0306599.3DYSF, MYOF
4basolateral plasma membraneGO:0163239.1AQP4, AQP1, OTOF
5extracellular vesicular exosomeGO:0700628.2GPT, AQP1, MYOF, DYSF
6plasma membraneGO:0058867.6DYSF, CAPN3, MYOF, AQP1, AQP4

Biological processes related to Dysferlinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carbon dioxide transportGO:0156709.7AQP1, AQP4
2cellular response to salt stressGO:0714729.6CAPN3, AQP1
3multicellular organismal water homeostasisGO:0508919.6AQP1, AQP4
4sensory perception of soundGO:0076059.4OTOF, AQP4
5water transportGO:0068339.3AQP1, AQP4
6plasma membrane repairGO:0017789.2MYOF, DYSF

Molecular functions related to Dysferlinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1water transmembrane transporter activityGO:0053729.5AQP1, AQP4
2phospholipid bindingGO:0055439.0DYSF, MYOF
3calcium ion bindingGO:0055099.0OTOF, DYSF, CAPN3

Products for genes affiliated with Dysferlinopathy

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  • Antibodies
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  • Antibodies

Sources for Dysferlinopathy

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet