MCID: MYF003
MIFTS: 38

Myofibrillar Myopathy malady

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

Aliases & Classifications for Myofibrillar Myopathy

About this section

Aliases & Descriptions for Myofibrillar Myopathy:

Name: Myofibrillar Myopathy 23 47 24 25 67
Myofibrillar Myopathies 25 26
Myotilinopathy 47 67
Myopathy, Myofibrillar, Desmin-Related 67
Alpha Beta Crystallinopathy 47
Protein Surplus Myopathy 47
 
Myopathy, Desmin Storage 67
Desmin Related Myopathy 47
Desmin Storage Myopathy 47
Filaminopathy 47
Desminopathy 47
Zaspopathy 47

Characteristics:

GeneReviews:

23
Penetrance: data are insufficient to draw conclusions about penetrance...


Classifications:



Summaries for Myofibrillar Myopathy

About this section
Genetics Home Reference:25 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.

MalaCards based summary: Myofibrillar Myopathy, also known as myofibrillar myopathies, is related to myopathy, myofibrillar, 1 and myopathy, spheroid body, and has symptoms including facial paresis An important gene associated with Myofibrillar Myopathy is MYOT (Myotilin), and among its related pathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle and heart, and related mouse phenotypes are cardiovascular system and behavior/neurological.

GeneReviews for NBK1499

Related Diseases for Myofibrillar Myopathy

About this section

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 51)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, 132.1CRYAB, DES, LDB3, MYOT
2myopathy, spheroid body31.7LDB3, MYOT, TTN
3myofibrillar myopathy 712.2
4dnajb6-related myofibrillar myopathy11.9
5fhl1-related myofibrillar myopathy11.9
6autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome11.9
7myopathy, myofibrillar, 211.8
8myopathy, myofibrillar, 611.7
9myopathy, myofibrillar, 311.7
10myopathy, myofibrillar, 411.7
11myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related11.7
12myopathy, myofibrillar, 511.6
13myopathy, proximal, with early respiratory muscle involvement11.0
14late-onset distal myopathy, markesbery-griggs type11.0
15arrhythmogenic right ventricular dysplasia 110.9
16hereditary proximal myopathy with early respiratory failure10.9
17myopathy10.7
18cardiomyopathy10.2
19cardiomyopathy, dilated, 1c, with or without lvnc10.2LDB3, MYOT
20frontotemporal dementia, right temporal atrophy variant10.1LDB3, TTN
21fixed pigmented erythema10.1LDB3, TTN
22ketamine-induced biliary dilatation10.1LDB3, TTN
23inclusion body myositis10.1
24arrhythmogenic right ventricular cardiomyopathy10.1
25myositis10.1
26restrictive cardiomyopathy10.0
27second-degree atrioventricular block9.9CRYAB, DES
28d ercole syndrome9.9DES, DMD
29cerebellar ataxia9.8
30cataract9.8
31respiratory failure9.8
32intestinal pseudo-obstruction9.8
33muscular dystrophy9.8
34ataxia9.8
35meige syndrome9.8CRYAB, DES
36classic variant of chromophobe renal cell carcinoma9.7DMD, MYOT
37muscular dystrophy, rigid spine, 19.7DMD, TTN
38myopathy, lactic acidosis, and sideroblastic anemia9.6DMD, TTN
39myopathy, distal, 49.6DMD, FLNC, MYOT
40occupational dermatitis9.4DES, DMD, TTN
41adams-oliver syndrome 29.4DES, DMD, TTN
42extraosseous ewing's sarcoma9.4CRYAB, DES, MYOT, TTN
43usher syndrome9.4DES, DMD, TTN
44autoimmune disease of skin and connective tissue9.3DMD, TTN
45epilepsy, generalized, with febrile seizures plus, type 19.2DES, DMD, FLNC, MYOT
46ectodermal dysplasia9.1DES, DMD, LDB3, TTN
47cataract 16, multiple types8.8CRYAB, DMD, FLNC, LDB3, MYOT
48myostatin-related muscle hypertrophy8.4BAG3, DES, DMD, FLNC, LDB3, MYOT
49autoimmune thyroid disease 28.2BAG3, CRYAB, DES, FLNC, LDB3, MYOT
50longitudinal vaginal septum8.2BAG3, CRYAB, DES, DMD, LDB3, TTN

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



Diseases related to myofibrillar myopathy

Symptoms for Myofibrillar Myopathy

About this section

UMLS symptoms related to Myofibrillar Myopathy:


facial paresis

Drugs & Therapeutics for Myofibrillar Myopathy

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myofibrillar Myopathy

Genetic Tests for Myofibrillar Myopathy

About this section

Genetic tests related to Myofibrillar Myopathy:

id Genetic test Affiliating Genes
1 Myofibrillar Myopathy26 24 MYOT

Anatomical Context for Myofibrillar Myopathy

About this section

MalaCards organs/tissues related to Myofibrillar Myopathy:

35
Skeletal muscle, Heart

Animal Models for Myofibrillar Myopathy or affiliated genes

About this section

MGI Mouse Phenotypes related to Myofibrillar Myopathy:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.0BAG3, DES, DMD, FLNC, LDB3, TTN
2MP:00053867.5BAG3, CRYAB, DES, DMD, FLNC, LDB3
3MP:00053696.7BAG3, CRYAB, DES, DMD, FLNC, LDB3

Publications for Myofibrillar Myopathy

About this section

Articles related to Myofibrillar Myopathy:

(show top 50)    (show all 69)
idTitleAuthorsYear
1
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects I+B-crystallin structure. (27904835)
2017
2
A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy. (27546599)
2016
3
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. (26969713)
2016
4
Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity. (26828629)
2016
5
Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. (27443559)
2016
6
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. (27633507)
2016
7
BAG3 myofibrillar myopathy presenting with cardiomyopathy. (25728519)
2015
8
Severe congenital actin related myopathy with myofibrillar myopathy features. (25913210)
2015
9
InA vivo characterization of human myofibrillar myopathy genes in zebrafish. (25866181)
2015
10
Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy. (24758315)
2014
11
Anesthetic considerations in myofibrillar myopathy. (25216331)
2014
12
Two desmin gene mutations associated with myofibrillar myopathies in Polish families. (25541946)
2014
13
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. (23486992)
2013
14
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. (23238331)
2013
15
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. (22153487)
2012
16
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. (22395865)
2012
17
Camptocormia as presenting sign in myofibrillar myopathy. (22749474)
2012
18
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. (22199023)
2012
19
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. (22806379)
2012
20
Desmin filaments and their disorganization associated with myofibrillar myopathies]. (21982405)
2011
21
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. (21676617)
2011
22
Restrictive cardiomyopathy as a cardiac manifestation of myofibrillar myopathy. (21481933)
2011
23
Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study. (21528768)
2010
24
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. (20448486)
2010
25
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. (20605452)
2010
26
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. (19151983)
2009
27
Myofibrillar myopathies: a clinical and myopathological guide. (19563540)
2009
28
Myofibrillar myopathies. (18769253)
2008
29
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. (18653338)
2008
30
Molecular pathology of myofibrillar myopathies. (18764962)
2008
31
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. (18197198)
2008
32
Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes. (17005401)
2006
33
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. (15978589)
2005
34
Involvement of clusterin and the aggresome in abnormal protein deposits in myofibrillar myopathies and inclusion body myositis. (15912881)
2005
35
A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. (15929027)
2005
36
Myofibrillar myopathy with desmin accumulation in a young Australian Shepherd dog. (15210162)
2004
37
Mutations in myotilin cause myofibrillar myopathy. (15111675)
2004
38
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. (14711882)
2004
39
Expression of protein kinase C isoforms and interleukin-1beta in myofibrillar myopathy. (15159477)
2004
40
Proteasomal expression, induction of immunoproteasome subunits, and local MHC class I presentation in myofibrillar myopathy and inclusion body myositis. (15198127)
2004
41
Clinical and histologic studies of a Qatari family with myofibrillar myopathy. (15573212)
2004
42
Myofibrillar myopathy caused by novel dominant negative alpha B- crystallin mutations. (14681890)
2003
43
Myofibrillar myopathies]. (14593638)
2003
44
Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases. (12669240)
2003
45
Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations. (11310634)
2001
46
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. (10970245)
1999
47
Myofibrillar myopathy: no evidence of apoptosis by TUNEL. (10078743)
1999
48
The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. (9855517)
1998
49
Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. (8627346)
1996
50
Myofibrillar Myopathy (20301672)
1993

Variations for Myofibrillar Myopathy

About this section

Clinvar genetic disease variations for Myofibrillar Myopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DESNM_001927.3(DES): c.1285C> T (p.Arg429Ter)SNVLikely pathogenic, Pathogenicrs150974575GRCh37Chr 2, 220288539: 220288539
2LDB3NM_001080114.1(LDB3): c.728C> T (p.Pro243Leu)SNVPathogenicrs775180716GRCh38Chr 10, 86692544: 86692544
3LDB3NM_001080114.1(LDB3): c.494C> T (p.Ala165Val)SNVPathogenicrs121908334GRCh37Chr 10, 88446975: 88446975
4MYOTNM_006790.2(MYOT): c.164C> T (p.Ser55Phe)SNVPathogenicrs121908457GRCh37Chr 5, 137206504: 137206504
5MYOTNM_006790.2(MYOT): c.179C> G (p.Ser60Cys)SNVPathogenicrs121908458GRCh37Chr 5, 137206519: 137206519
6DESNM_001927.3(DES): c.1069G> C (p.Ala357Pro)SNVPathogenicrs58898021GRCh37Chr 2, 220286107: 220286107
7DESNM_001927.3(DES): c.1346A> C (p.Lys449Thr)SNVLikely pathogenic, Pathogenicrs267607485GRCh37Chr 2, 220290442: 220290442
8DESNM_001927.3(DES): c.46C> T (p.Arg16Cys)SNVPathogenicrs60798368GRCh37Chr 2, 220283230: 220283230
9DESNM_001927.3(DES): c.735+3A> GSNVPathogenicrs267607483GRCh37Chr 2, 220285071: 220285071

Expression for genes affiliated with Myofibrillar Myopathy

About this section
Search GEO for disease gene expression data for Myofibrillar Myopathy.

Pathways for genes affiliated with Myofibrillar Myopathy

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
18.7DES, DMD, TTN

GO Terms for genes affiliated with Myofibrillar Myopathy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1contractile fiberGO:004329210.1CRYAB, DES
2I bandGO:003167410.0CRYAB, TTN
3costamereGO:00430349.6DMD, FLNC
4sarcolemmaGO:00423838.8DES, DMD, FLNC, MYOT
5cytoskeletonGO:00058568.4DES, DMD, FLNC, LDB3
6cytosolGO:00058297.1BAG3, CRYAB, DES, DMD, FLNC, TTN
7Z discGO:00300186.6BAG3, CRYAB, DES, DMD, FLNC, LDB3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1sarcomere organizationGO:004521410.0LDB3, TTN
2muscle fiber developmentGO:00487479.3DMD, FLNC
3regulation of cellular response to heatGO:19000349.2BAG3, CRYAB
4muscle organ developmentGO:00075179.2CRYAB, DMD
5cardiac muscle contractionGO:00600489.1DMD, TTN
6regulation of catalytic activityGO:00507909.0BAG3, TTN
7muscle filament slidingGO:00300498.9DES, DMD, TTN
8muscle contractionGO:00069368.7CRYAB, DES, MYOT, TTN

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

idNameGO IDScoreTop Affiliating Genes
1muscle alpha-actinin bindingGO:00513719.9LDB3, TTN
2structural constituent of muscleGO:00083078.8DMD, MYOT, TTN
3cytoskeletal protein bindingGO:00080928.4CRYAB, DES, FLNC, LDB3

Sources for Myofibrillar Myopathy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet