MCID: MYF003
MIFTS: 45

Myofibrillar Myopathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Cardiovascular diseases

Aliases & Classifications for Myofibrillar Myopathy

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Aliases & Descriptions for Myofibrillar Myopathy:

Name: Myofibrillar Myopathy 21 45 22 23 65
Myofibrillar Myopathies 23 24
Myotilinopathy 45 65
Myopathy, Myofibrillar, Desmin-Related 65
Alpha Beta Crystallinopathy 45
Protein Surplus Myopathy 45
 
Myopathy, Desmin Storage 65
Desmin Related Myopathy 45
Desmin Storage Myopathy 45
Filaminopathy 45
Desminopathy 45
Zaspopathy 45

Classifications:



External Ids:

UMLS65 C2678065, C1832370, C2931110 C1836607, more

Summaries for Myofibrillar Myopathy

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NIH Rare Diseases:45 Myofibrillar myopathies (mfm) are a group of neuromuscular disorders characterized by slowly progressive weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those farther away from the trunk). some affected individuals also experience sensory symptoms, muscle stiffness, aching, or cramps. peripheral neuropathy or cardiomyopathy may also be present. most people with mfm begin to develop muscle weakness in mid-adulthood, but features of the condition can appear anytime between infancy and late adulthood. it may be caused by mutations in any of several genes, including des, cryab, myot, ldb3, flnc,  and bag3; the signs and symptoms of mfm can vary widely depending on the condition's genetic cause. it is inherited in an autosomal dominant manner. treatment may include a pacemaker and implantable cardioverter defibrillator (icd) for arrhythmia or cardiac conduction defects; cardiac transplantation for progressive or life-threatening cardiomyopathy; respiratory support for respiratory failure; and physical therapy and assistive devices for those with advanced muscle weakness. last updated: 3/18/2011

MalaCards based summary: Myofibrillar Myopathy, also known as myofibrillar myopathies, is related to myofibrillar myopathy 7 and myopathy, myofibrillar, 1. An important gene associated with Myofibrillar Myopathy is MYOT (Myotilin), and among its related pathways are MSP-RON Signaling and Striated Muscle Contraction. Affiliated tissues include heart, skeletal muscle and t cells, and related mouse phenotypes are behavior/neurological and cardiovascular system.

Genetics Home Reference:23 Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected.

GeneReviews summary for NBK1499

Related Diseases for Myofibrillar Myopathy

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Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1 Myopathy, Myofibrillar, 3
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 6 Myopathy, Myofibrillar, 2
Myofibrillar Myopathy 7 Dnajb6-Related Myofibrillar Myopathy
Fhl1-Related Myofibrillar Myopathy

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

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1myofibrillar myopathy 734.2FHL1, MYOT
2myopathy, myofibrillar, 133.5CRYAB, DES, LDB3, MYOT
3myopathy, myofibrillar, 333.0FLNC, MYOT, TCAP, TTN
4myopathy, spheroid body31.3FLNC, LDB3, MYOT, TTN
5desmin-related myopathy with mallory body-like inclusions12.6
6dnajb6-related myofibrillar myopathy12.4
7fhl1-related myofibrillar myopathy12.4
8fatal infantile hypertonic myofibrillar myopathy12.4
9distal myotilinopathy12.3
10muscle filaminopathy12.3
11myopathy, myofibrillar, 212.1
12myopathy, myofibrillar, 612.0
13myopathy, myofibrillar, 511.6
14myopathy, myofibrillar, 411.6
15hereditary proximal myopathy with early respiratory failure11.6
16late-onset distal myopathy, markesbery-griggs type11.6
17edict syndrome11.4
18myopathy, proximal, with early respiratory muscle involvement11.4
19myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related10.4
20arrhythmogenic right ventricular dysplasia 110.4
21hepatitis10.4
22schizophrenia 1610.4DES, DNAJB6
23myopathy, distal, 410.4DES, FLNC, MYOT
24familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.3LDB3, TTN
25minicore myopathy with external ophthalmoplegia10.3DES, FLNC, MYOT
26sarcoma10.3
27frontotemporal dementia, right temporal atrophy variant10.3LDB3, TTN
28cardiomyopathy, dilated, 1c, with or without lvnc10.3LDB3, MYOT
29mitf-related melanoma and renal cell carcinoma predisposition syndrome10.3LDB3, TTN
30limb-girdle muscular dystrophy10.2DES, MYOT, TTN
31lmna-related muscle diseases10.2TCAP, TTN
32cardiomyopathy, hypertrophic, 2510.2MYOT, TCAP, TTN
33muscular dystrophy, limb-girdle, type 2b10.2MYOT, TCAP, TTN
34cartilage disease10.2MYOT, TCAP, TTN
35colorectal cancer10.2
36cystinuria10.2
37asthma10.2
38breast cancer10.2
39aplastic anemia10.2
40phenylketonuria10.2
41marfan syndrome10.2
42reticulate acropigmentation of kitamura10.2
43alveolar soft-part sarcoma10.2
44cryptorchidism10.2
45gingival recession10.2
46mantle cell lymphoma10.2
47zollinger-ellison syndrome10.2
48lymphoma10.2
49cysticercosis10.2
50xerophthalmia10.2

Graphical network of the top 20 diseases related to Myofibrillar Myopathy:



Diseases related to myofibrillar myopathy

Symptoms for Myofibrillar Myopathy

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Drugs & Therapeutics for Myofibrillar Myopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myofibrillar Myopathy

Genetic Tests for Myofibrillar Myopathy

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Genetic tests related to Myofibrillar Myopathy:

id Genetic test Affiliating Genes
1 Myofibrillar Myopathy22 MYOT

Anatomical Context for Myofibrillar Myopathy

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MalaCards organs/tissues related to Myofibrillar Myopathy:

33
Heart, Skeletal muscle, T cells, Endothelial

Animal Models for Myofibrillar Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Myofibrillar Myopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.9ACTA1, BAG3, CRYAB, DES, FHL1, FLNC
2MP:00053857.4BAG3, DES, FHL1, FLNC, IL1B, LDB3
3MP:00053697.3ACTA1, BAG3, CRYAB, DES, FHL1, FLNC
4MP:00053766.2ACTA1, BAG3, DES, FHL1, IL1B, LDB3

Publications for Myofibrillar Myopathy

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Articles related to Myofibrillar Myopathy:

(show top 50)    (show all 61)
idTitleAuthorsYear
1
Italian guidelines for the use of antiretroviral agents and the diagnostic-clinical management of HIV-1 infected persons. Update 2015. (27196547)
2016
2
Homodimerization Protects the Amyloid Precursor Protein C99 Fragment from Cleavage by I^-Secretase. (26403946)
2015
3
Outpatient Ulcerative Colitis Primary Anti-TNF Responders Receiving Adalimumab or Infliximab Maintenance Therapy Have Similar Rates of Secondary Loss of Response. (25389599)
2014
4
TGF-I^1 and TNF-I+ differentially regulate Twist1 mediated resistance towards BRAF/MEK inhibition in melanoma. (23848983)
2013
5
Late occurring ectopic pregnancy in a posthysterectomy patient. (24151571)
2013
6
Celiac disease: a disease with varied manifestations in adults and adolescents. (23906112)
2013
7
Treatment for acquired apraxia of speech: examination of treatment intensity and practice schedule. (23071199)
2013
8
An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome. (23897888)
2013
9
Drug-related osteonecrosis of the jaws: "Exposure, or not exposure: that is the question". (22668630)
2012
10
Use of hand diagrams in screening for ulnar neuropathy: comparison with electrodiagnostic studies. (23042421)
2012
11
Resting heart rate as a predictor of metabolic dysfunctions in obese children and adolescents. (22239980)
2012
12
Toll-like receptor 9 is a novel biomarker for esophageal squamous cell dysplasia and squamous cell carcinoma progression. (21876325)
2011
13
A fluorescent fatty acid probe, DAUDA, selectively displaces two myristates bound in human serum albumin. (21997768)
2011
14
Children with familial hypercholesterolemia are characterized by an inflammatory imbalance between the tumor necrosis factor I+ system and interleukin-10. (21040915)
2011
15
Treatment of recalcitrant generalized granuloma annulare with adalimumab. (22134573)
2011
16
Evaluation of oxime k203 as antidote in tabun poisoning. (19329372)
2009
17
Investigation of association of the IL12B and IL23R genes with psoriatic arthritis. (19035472)
2008
18
Preparation and in vitro targeting of follicle stimulating hormone polypeptide modified nanoparticles]. (19080519)
2008
19
Serological prevalence of echinococcosis and risk factors for infection among children in rural communities of southern Ningxia, China. (18554249)
2008
20
Feasibility of double-balloon enteroscopy-assisted chromoendoscopy of the small bowel in patients with familial adenomatous polyposis. (17252461)
2007
21
Water-soluble polymer conjugates of ZnPP for photodynamic tumor therapy. (17279724)
2007
22
Antiphospholipid syndrome in autoimmune diseases]. (17195356)
2006
23
Complex effect of adenovirus early region proteins on innate immune system. (17168793)
2006
24
Ex vivo cell-mediated gene therapy for metachromatic leukodystrophy using neurospheres. (16729983)
2006
25
Safety advantage of endocut mode over endoscopic sphincterotomy for choledocholithiasis. (16610062)
2006
26
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. (15491440)
2004
27
The role of tyrosine 343 in substrate binding and catalysis by human sulfite oxidase. (14729666)
2004
28
Regulation of epithelial ion transport by aldosterone through changes in gene expression. (15134817)
2004
29
Analysis of genetic alterations, classified according to their DNA ploidy pattern, in the progression of colorectal adenomas and early colorectal carcinomas. (12754737)
2003
30
Pathology case of the month. Elderly woman with fatigue. The 5q- Syndrome. (12236399)
2002
31
Leptin and exercise. (12324651)
2002
32
The tubby-like proteins, a family with roles in neuronal development and function. (11801719)
2002
33
Insulin-like growth factor-I antagonizes the antiproliferative effects of cyclooxygenase-2 inhibitors on BxPC-3 pancreatic cancer cells. (12499282)
2002
34
Inhibitory effect of the transcription factor encoded by the mutant mi microphthalmia allele on transactivation of mouse mast cell protease 7 gene. (11157480)
2001
35
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity. (11800145)
2001
36
Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes. (11147573)
2000
37
Tyrosine 146 of thymidylate synthase assists proton abstraction from the 5-position of 2'-deoxyuridine 5'-monophosphate. (9888826)
1999
38
Effects of dexamethasone on meconium aspiration syndrome in newborn piglets. (10447112)
1999
39
Optimization of fibronectin-assisted retroviral gene transfer into human CD34+ hematopoietic cells. (9449373)
1997
40
Immunocytochemical studies of an antigen in a human T-cell lymphoma line (Jurkat) recognized by certain monoclonal antibodies to CD-13 (aminopeptidase-N). (7549844)
1995
41
Modulation of endothelial cell proliferation, adhesion, and motility by recombinant heparin-binding domain and synthetic peptides from the type I repeats of thrombospondin. (8227183)
1993
42
Psychiatric consequences of road traffic accidents. Consider somatoform pain disorder. (8281072)
1993
43
Scintigraphic detection of xenografted tumors producing human basic fibroblast growth factor. (8402731)
1993
44
Common ionic mechanisms of excitation by substance P and other transmitters in guinea-pig submucosal neurones. (7687294)
1993
45
Extrapulmonary tuberculosis in children. (8377698)
1993
46
Bilateral putaminal necrosis caused by methanol poisoning: a case report. (1318154)
1992
47
Analysis of aqueous humour in ocular onchocerciasis. (2036808)
1991
48
Regulation of c-jun expression and AP-1 enhancer activity by granulocyte-macrophage colony-stimulating factor. (1900839)
1991
49
Human U1 snRNP-specific C protein: complete cDNA and protein sequence and identification of a multigene family in mammals. (2971157)
1988
50
Myositis ossificans of the head and neck. Review of the literature and report of a case. (6847509)
1983

Variations for Myofibrillar Myopathy

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Expression for genes affiliated with Myofibrillar Myopathy

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Search GEO for disease gene expression data for Myofibrillar Myopathy.

Pathways for genes affiliated with Myofibrillar Myopathy

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Pathways related to Myofibrillar Myopathy according to GeneCards Suite gene sharing:

(show all 19)
idSuper pathwaysScoreTop Affiliating Genes
19.3ACTA1, IL1B, PRKCZ
29.3ACTA1, DES, TCAP, TTN
39.2PRKCA, PRKCH, PRKCZ
4
Show member pathways
9.2PRKCA, PRKCH, PRKCZ
5
Show member pathways
9.2PRKCA, PRKCH, PRKCZ
6
Show member pathways
9.2PRKCA, PRKCH, PRKCZ
79.2PRKCA, PRKCH, PRKCZ
89.2PRKCA, PRKCH, PRKCZ
99.2PRKCA, PRKCH, PRKCZ
109.2PRKCA, PRKCH, PRKCZ
119.2PRKCA, PRKCH, PRKCZ
129.2PRKCA, PRKCH, PRKCZ
139.2PRKCA, PRKCH, PRKCZ
149.2IL1B, PRKCA, PRKCZ
15
Show member pathways
8.9ACTA1, PRKCA, PRKCH, PRKCZ
16
Show member pathways
8.9ACTA1, PRKCA, PRKCH, PRKCZ
17
Show member pathways
8.9IL1B, PRKCA, PRKCH, PRKCZ
188.7FLNC, IL1B, PRKCA, PRKCH, PRKCZ
19
Show member pathways
8.5ACTA1, IL1B, PRKCA, PRKCH, PRKCZ

GO Terms for genes affiliated with Myofibrillar Myopathy

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Cellular components related to Myofibrillar Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:00058569.8DES, FLNC, LDB3
2intermediate filamentGO:00058829.6DES, SYNC

Biological processes related to Myofibrillar Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cardiac myofibril assemblyGO:005500310.1TCAP, TTN
2sarcomerogenesisGO:004876910.1TCAP, TTN
3negative regulation of insulin receptor signaling pathwayGO:004662710.0IL1B, PRKCZ
4muscle filament slidingGO:003004910.0TCAP, TTN
5muscle contractionGO:00069369.5ACTA1, CRYAB, TTN
6platelet activationGO:00301689.1PRKCA, PRKCZ, TTN

Molecular functions related to Myofibrillar Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein kinase C activityGO:00046979.7PRKCA, PRKCH

Sources for Myofibrillar Myopathy

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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