MCID: MYP078
MIFTS: 37

Myopathy, Myofibrillar, 3 malady

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

Aliases & Classifications for Myopathy, Myofibrillar, 3

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Aliases & Descriptions for Myopathy, Myofibrillar, 3:

Name: Myopathy, Myofibrillar, 3 49 67 65
Myotilinopathy 10 11 22 67 24 65
Myofibrillar Myopathy 3 10 12
Myopathy Myofibrillar Myotylin-Related 67
 
Myotilin-Related Myopathy 22
Mfm Myotilin-Related 67
Mfm3 67

Characteristics:

HPO:

61
myopathy, myofibrillar, 3:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, slow progression


Classifications:



External Ids:

OMIM49 609200
Disease Ontology10 DOID:0080094
MedGen34 C1836607
MeSH36 D020914
UMLS65 C1836607, C3714934

Summaries for Myopathy, Myofibrillar, 3

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UniProtKB/Swiss-Prot:67 Myopathy, myofibrillar, 3: A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.

MalaCards based summary: Myopathy, Myofibrillar, 3, also known as myotilinopathy, is related to myopathy, myofibrillar, 1 and distal myotilinopathy, and has symptoms including polyneuropathy, areflexia and cardiomyopathy. An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin). Affiliated tissues include skeletal muscle, and related mouse phenotypes are no phenotypic analysis and normal.

OMIM:49 Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic... (609200) more...

Related Diseases for Myopathy, Myofibrillar, 3

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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 Myopathy, Myofibrillar, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, 131.3LDB3, MYOT
2distal myotilinopathy12.3
3myofibrillar myopathy11.5
4cardiomyopathy, dilated, 1c, with or without lvnc10.5LDB3, MYOT
5x-linked cleft palate and ankyloglossia10.5MYH7, TTN
6familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.4LDB3, TTN
7frontotemporal dementia, right temporal atrophy variant10.4LDB3, TTN
8mitf-related melanoma and renal cell carcinoma predisposition syndrome10.4LDB3, TTN
9cardiomyopathy, hypertrophic, 2510.4MYOT, TTN
10myopathy, distal, 410.4FLNC, MYOT
11muscular dystrophy, limb-girdle, type 2b10.4MYOT, TTN
12limb-girdle muscular dystrophy10.3MYH7, MYOT, TTN
13myopathy, myofibrillar, 310.3FLNC, MYOT, TTN
14spastic cerebral palsy10.3SNAP23, SNAP29
15minicore myopathy with external ophthalmoplegia10.3FLNC, MYH7, MYOT
16transverse vaginal septum10.3LDB3, MYH7, TTN
17hiv-110.3
18patellofemoral pain syndrome10.3
19neuronitis10.3
20periodontitis10.3
21lichen sclerosus10.3
22endotheliitis10.3
23supratentorial primitive neuroectodermal tumor10.2INA, SYP
24dyserythropoietic anemia and thrombocytopenia10.2HSPB1, HSPB3
25lung squamous cell carcinoma10.2SYP, TTN
26trachea adenoid cystic carcinoma10.2LDB3, TARDBP
27cartilage disease10.2MYOT, TTN
28myopathy with deficiency of iscu10.2FLNC, LDB3, MYOT, TTN
29follicular infundibulum tumor10.2SYP, UCHL1
30adult medulloblastoma10.1INA, SYP
31cerebellar astrocytoma10.1SYP, UCHL1
32posterior foramen magnum meningioma10.1SYP, UCHL1
33adult pineal parenchymal tumor10.1SYP, UCHL1
34cutaneous ganglioneuroma10.1SYP, UCHL1
35estrogen excess10.1SYP, TARDBP
36drug-induced hepatitis10.0LDB3, MYH7, TTN
37spina bifida occulta10.0SYP, UCHL1
38autoimmune thyroid disease 210.0FLNC, LDB3, MYH7, MYOT, TTN
39histiocytoma10.0FLNC, LDB3, MYH7, MYOT, TTN
40amyotrophic lateral sclerosis type 109.9SYP, TARDBP
41chronic infections, due to mbl deficiency9.9NOS1, SYP, UCHL1
42mixed type thymoma9.9SYP, UCHL1
43cardiomyopathy, dilated, 1u9.9SYP, TARDBP, UCHL1
44diastrophic dysplasia9.9ELANE, KLK7
45jervell and lange-nielsen syndrome 29.7HSPB1, NOS1, SYP, TARDBP
46cataract 16, multiple types9.6FLNC, LDB3, MYH7, MYOT, SYNPO2
47myopathy, spheroid body6.6ELANE, FLNC, HSPB1, HSPB3, INA, KLK7

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 3:



Diseases related to myopathy, myofibrillar, 3

Symptoms for Myopathy, Myofibrillar, 3

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Symptoms by clinical synopsis from OMIM:

609200

Clinical features from OMIM:

609200

HPO human phenotypes related to Myopathy, Myofibrillar, 3:

(show all 13)
id Description Frequency HPO Source Accession
1 polyneuropathy HP:0001271
2 areflexia HP:0001284
3 cardiomyopathy HP:0001638
4 achilles tendon contracture HP:0001771
5 hyporeflexia of lower limbs HP:0002600
6 elevated serum creatine phosphokinase HP:0003236
7 myalgia HP:0003326
8 muscle stiffness HP:0003552
9 distal amyotrophy HP:0003693
10 proximal muscle weakness HP:0003701
11 myofibrillar myopathy HP:0003715
12 progressive distal muscle weakness HP:0009063
13 muscle fiber cytoplasmatic inclusion bodies HP:0100303

Drugs & Therapeutics for Myopathy, Myofibrillar, 3

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myopathy, Myofibrillar, 3

Genetic Tests for Myopathy, Myofibrillar, 3

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Genetic tests related to Myopathy, Myofibrillar, 3:

id Genetic test Affiliating Genes
1 Myotilinopathy22 MYOT

Anatomical Context for Myopathy, Myofibrillar, 3

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MalaCards organs/tissues related to Myopathy, Myofibrillar, 3:

33
Skeletal muscle

Animal Models for Myopathy, Myofibrillar, 3 or affiliated genes

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MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 3:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.4HSPB1, MYH7, MYOT, NOS1, SNAP23, TARDBP
2MP:00028738.1ELANE, HSPB1, INA, MYOT, NOS1, SYP
3MP:00107686.2ELANE, FLNC, LDB3, NOS1, REST, SNAP23

Publications for Myopathy, Myofibrillar, 3

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Variations for Myopathy, Myofibrillar, 3

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UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 3:

67
id Symbol AA change Variation ID SNP ID
1MYOTp.Ser55PheVAR_021569
2MYOTp.Ser60CysVAR_021571
3MYOTp.Ser60PheVAR_021572
4MYOTp.Ser95IleVAR_021573

Clinvar genetic disease variations for Myopathy, Myofibrillar, 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYOTNM_006790.2(MYOT): c.164C> T (p.Ser55Phe)single nucleotide variantPathogenicrs121908457GRCh37Chr 5, 137206504: 137206504
2MYOTNM_006790.2(MYOT): c.179C> G (p.Ser60Cys)single nucleotide variantPathogenicrs121908458GRCh37Chr 5, 137206519: 137206519
3MYOTNM_006790.2(MYOT): c.179C> T (p.Ser60Phe)single nucleotide variantPathogenicrs121908458GRCh37Chr 5, 137206519: 137206519
4MYOTNM_006790.2(MYOT): c.284G> T (p.Ser95Ile)single nucleotide variantPathogenicrs121908460GRCh37Chr 5, 137206624: 137206624

Expression for genes affiliated with Myopathy, Myofibrillar, 3

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Search GEO for disease gene expression data for Myopathy, Myofibrillar, 3.

Pathways for genes affiliated with Myopathy, Myofibrillar, 3

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GO Terms for genes affiliated with Myopathy, Myofibrillar, 3

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Cellular components related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1presynapseGO:00987939.7SNAP23, SNAP29

Biological processes related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:00300499.9MYH7, TTN

Sources for Myopathy, Myofibrillar, 3

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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