MCID: DYS030
MIFTS: 33

Dysferlinopathy malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Dysferlinopathy

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Aliases & Descriptions for Dysferlinopathy:

Name: Dysferlinopathy 21 45 22 24 65

Classifications:



External Ids:

UMLS65 C2931687

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 sarcoidosis, susceptibility 2 and subpulmonary stenosis. An important gene associated with Dysferlinopathy is DYSF (Dysferlin), and among its related pathways is Bile secretion. Affiliated tissues include neutrophil, breast and b cells, and related mouse phenotypes are no phenotypic analysis and cardiovascular system.

Wikipedia:68 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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Diseases related to Dysferlinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoidosis, susceptibility 210.3AQP4, DYSF
2subpulmonary stenosis10.3AQP1, AQP4
3acral lentiginous melanoma10.3AQP1, AQP4
4lmna-related muscle diseases10.3CAPN3, DYSF
5leukemia10.2
6bardet-biedl syndrome 1110.2CAPN3, DYSF
7cardiomyopathy, hypertrophic, 2510.2CAPN3, DYSF
8myopathy, myofibrillar, 310.2CAPN3, DYSF
9cardiomyopathy, dilated, 1l10.2CAPN3, DYSF
10glycogen storage disease 0, muscle10.2CAPN3, DYSF
11immature cataract10.2AQP1, AQP4
12mast cell disease10.2CAPN3, DYSF
13limb-girdle muscular dystrophy10.2CAPN3, DYSF
14cartilage disease10.2CAPN3, DYSF
15neutropenia10.2AQP1, AQP4
16schizophrenia10.2
17hepatocellular carcinoma10.2
18meningitis10.2
19endotheliitis10.2
20gonadal dysgenesis10.1AQP1, AQP4
21lingual-facial-buccal dyskinesia10.1AQP1, AQP4
22chronic cholangitis10.1AQP1, AQP4
23palmoplantar keratoderma, bothnian type10.1AQP1, AQP4
24autonomic nervous system disease10.1AQP1, AQP4
25asthma10.0
26breast cancer10.0
27obesity10.0
28renal cell carcinoma10.0
29ladd syndrome10.0
30acrodermatitis enteropathica10.0
31krabbe disease10.0
32prader-willi syndrome10.0
33alveolar soft-part sarcoma10.0
34premature ovarian failure10.0
35hemophilia a10.0
36angina pectoris10.0
37acne10.0
38b-cell lymphomas10.0
39chronic myelomonocytic leukemia10.0
40familial nephrotic syndrome10.0
41hepatitis10.0
42hepatitis b10.0
43myasthenia gravis10.0
44spondylolisthesis10.0
45lymphoma10.0
46eosinophilic meningitis10.0
47lymphoblastic leukemia10.0
48sarcoma10.0
49tick paralysis10.0
50pulmonary edema10.0

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):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunosuppressive AgentsPhase 2, Phase 310422
2Anti-Inflammatory AgentsPhase 2, Phase 38478
3Immunologic FactorsPhase 2, Phase 318483
4DeflazacortPhase 2, Phase 31214484-47-0
5
Bortezomibapproved, investigational, experimentalPhase 1769179324-69-7387447, 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
6VaccinesPhase 16085

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 Dysferlinopathy22 DYSF

Anatomical Context for Dysferlinopathy

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MalaCards organs/tissues related to Dysferlinopathy:

33
Neutrophil, Breast, B cells, Kidney, Liver, Myeloid, Lung

Animal Models for Dysferlinopathy or affiliated genes

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MGI Mouse Phenotypes related to Dysferlinopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.8AQP4, CAPN3, DYSF, OTOF
2MP:00053858.1AQP1, AQP4, CAPN3, MYOF, RELA

Publications for Dysferlinopathy

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Articles related to Dysferlinopathy:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
Anti-glutamate a882 receptor antibody-positive and anti-N-methyl-d-aspartate receptor antibody-negative lobar encephalitis presenting as global aphasia and swallowing apraxia. (25685138)
2014
2
Abdominal adiposity through adipocyte secretion products, a risk factor for endometrial cancer. (23544715)
2013
3
Risk factors for symptomatic and asymptomatic chikungunya infection. (24052594)
2013
4
The antimicrobial effects of helium and helium-air plasma on Staphylococcus aureus and Clostridium difficile. (23607860)
2013
5
Wide composite resection of follicular thyroid carcinoma with metastases to sternum: report of two cases. (23810164)
2013
6
Association of neutrophil gelatinase associated lipocalin and cystatin-C with kidney function in children with nephrotic syndrome. (24049623)
2013
7
Screening and early diagnosis of osteoporosis through X-ray and ultrasound based techniques. (24349644)
2013
8
Kaposi's sarcoma-associated herpesvirus inhibits expression and function of endothelial cell major histocompatibility complex class II via suppressor of cytokine signaling 3. (22532676)
2012
9
The Scap/SREBP pathway is essential for developing diabetic fatty liver and carbohydrate-induced hypertriglyceridemia in animals. (22326225)
2012
10
Altered B cell homeostasis is associated with type I diabetes and carriers of the PTPN22 allelic variant. (22105996)
2012
11
Relation of N-terminal pro-B-type natriuretic peptide (NT-proBNP) and left atrial volume index to left ventricular function in chronic hemodialysis patients. (21127887)
2011
12
8p11 Myeloproliferative syndrome with BCR-FGFR1 rearrangement presenting with T-lymphoblastic lymphoma and bone marrow stromal cell proliferation: a case report and review of the literature. (21239058)
2011
13
Non-traumatic sphenoidal intradiploic arachnoid cyst as a cause of trigeminal neuralgia. A case report. (24059888)
2011
14
Factors influencing dyspepsia-related consultation: differences between a rural and an urban population. (21740483)
2011
15
Hemolysis and hemolytic uremic syndrome following five-fold N-acetylcysteine overdose. (21970774)
2011
16
Enlarging unilateral breast mass in an adolescent male: an unusual presentation of intraductal papilloma. (21616226)
2011
17
Phosphorylation-independent dual-site binding of the FHA domain of KIF13 mediates phosphoinositide transport via centaurin alpha1. (21057110)
2010
18
Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment. (20394945)
2010
19
7.0-Tesla Tesla magnetic resonance imaging of granulomatous meningoencephalitis in a Maltese dog: a comparison with 0.2 and 1.5-Tesla. (19959911)
2009
20
Prevention of ER-negative breast cancer. (19213564)
2009
21
Prevalence of sclerosing cholangitis in adults with autoimmune hepatitis: a prospective magnetic resonance imaging and histological study. (19575454)
2009
22
Involvement of endoplasmic reticulum stress after middle cerebral artery occlusion in mice. (17590517)
2007
23
Schedule-dependent apoptosis in K-ras mutant non-small-cell lung cancer cell lines treated with docetaxel and erlotinib: rationale for pharmacodynamic separation. (18186959)
2007
24
The expressions of protein kinase CK2alpha in squamous cell carcinoma of larynx and its clinical significance]. (16836077)
2006
25
Serum hormones for predicting pregnancy outcome after assisted reproductive technology. (16168214)
2005
26
Nitric oxide interaction with cytochrome c' and its relevance to guanylate cyclase. Why does the iron histidine bond break? (15913362)
2005
27
A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma. (15238985)
2004
28
Insulin resistance and ferritin as major determinants of nonalcoholic fatty liver disease in apparently healthy obese patients. (14610526)
2004
29
A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. (14733964)
2004
30
The clinical relevance of Bcl-2, Rb and p53 expression in advanced non-small cell lung cancer. (14644514)
2003
31
Role of angiotensin II and free radicals in blood pressure regulation in a rat model of renal hypertension. (11566905)
2001
32
Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg--> Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg--> His, in exon 14 of the MYH7 gene: A case report. (20428263)
2001
33
Visual cycle impairment in cellular retinaldehyde binding protein (CRALBP) knockout mice results in delayed dark adaptation. (11301032)
2001
34
Cryopreservation alters the levels of the bull sperm surface protein P25b. (10975417)
2000
35
Constitutively active MuSK is clustered in the absence of agrin and induces ectopic postsynaptic-like membranes in skeletal muscle fibers. (10212297)
1999
36
In utero urinary bladder perforation, urinary ascites, and bilateral contained urinomas secondary to posterior urethral valves: clinical and imaging findings. (8995156)
1997
37
Tertiary structure of RBD2 and backbone dynamics of RBD1 and RBD2 of the human U1A protein determined by NMR spectroscopy. (9265619)
1997
38
Sodium butyrate delays neutrophil apoptosis: role of protein biosynthesis in neutrophil survival. (8562392)
1996
39
Constitutive secretion of erythropoietin by human renal adenocarcinoma cells in vivo and in vitro. (7982467)
1994
40
Interleukin-1 beta modulates myocardial contraction via dexamethasone sensitive production of nitric oxide. (8221802)
1993
41
Structural motifs and potential sigma homologies in the large subunit of human general transcription factor TFIIE. (1956403)
1991
42
Eosinophilia-myalgia syndrome associated with L-tryptophan. A case report with pulmonary manifestations and review of the literature. (1656679)
1991
43
Corticotropin releasing hormone and gonadotropin secretion in physically active males after acute exercise. (1646105)
1991
44
cDNA cloning and chromosomal assignment of the human O6- methylguanine-DNA methyltransferase. cDNA expression in Escherichia coli and gene expression in human cells. (2188979)
1990
45
Interferon and c-ets-1 genes in the translocation (9;11)(p22;q23) in human acute monocytic leukemia. (3455787)
1986
46
Migration of acetylated hemicellulose from capillary hemodialyzer to blood, causing scleritis and/or iritis. (6508598)
1984
47
Peripheral neuropathy, cerebral atrophy, and intellectual impairment in chronic alcoholics. (6095578)
1984
48
Studies on beta-phenylethylamine deamination by human placental monoamine oxidase. (6788990)
1981
49
Chronic follicular conjunctivitis and its etiological agent. (5742668)
1968
50
Fluorescence microscopy and fluorescence microphotography of neuroma, myoma and fibroma of the digestive tract]. (13407471)
1956

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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Pathways related to Dysferlinopathy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7AQP1, AQP4

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:00303159.7CAPN3, DYSF

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to hydrogen peroxideGO:007030110.1AQP1, RELA
2cellular response to salt stressGO:007147210.1AQP1, CAPN3
3glycerol transportGO:001579310.0AQP1, AQP4
4positive regulation of NF-kappaB transcription factor activityGO:00510929.5CAPN3, RELA
5negative regulation of apoptotic processGO:00430669.1AQP1, CAPN3, RELA

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