MFM3
MCID: MYP078
MIFTS: 34

Myopathy, Myofibrillar, 3 (MFM3) malady

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

Aliases & Classifications for Myopathy, Myofibrillar, 3

Aliases & Descriptions for Myopathy, Myofibrillar, 3:

Name: Myopathy, Myofibrillar, 3 54 66 69
Myotilinopathy 12 24 66 29 13 69
Myofibrillar Myopathy 3 12 14
Myopathy Myofibrillar Myotylin-Related 66
Myotilin-Related Myopathy 24
Distal Myotilinopathy 56
Mfm Myotilin-Related 66
Mfm3 66

Characteristics:

HPO:

32
myopathy, myofibrillar, 3:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 609200
Disease Ontology 12 DOID:0080094
Orphanet 56 ORPHA98911
ICD10 via Orphanet 34 G71.8
MedGen 40 C1836607
MeSH 42 D020914

Summaries for Myopathy, Myofibrillar, 3

UniProtKB/Swiss-Prot : 66 Myopathy, myofibrillar, 3: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM3 is 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 myofibrillar myopathy and myopathy, myofibrillar, 1, and has symptoms including myalgia, elevated serum creatine phosphokinase and cardiomyopathy. An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin). Affiliated tissues include skeletal muscle, and related phenotype is Decreased ionizing radiation sensitivity.

OMIM : 54 Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic... (609200) more...

Related Diseases for Myopathy, Myofibrillar, 3

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 Myopathy, Myofibrillar, 8

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

(show all 26)
id Related Disease Score Top Affiliating Genes
1 myofibrillar myopathy 11.0
2 myopathy, myofibrillar, 1 10.9
3 chronic atrial and intestinal dysrhythmia 10.1 DNAJB6 MYOT
4 dentinogenesis imperfecta, shields type iii 10.1 DNAJB6 MYOT
5 hypospadias 3, autosomal 10.1 DNAJB6 MYOT
6 short-rib thoracic dysplasia 8 with or without polydactyly 10.1 DNAJB6 MYOT
7 polyposis syndrome, hereditary mixed, 2 10.1 LDB3 MYOT
8 cardiomyopathy, dilated, 1i 10.1 LDB3 MYOT
9 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related 10.0 LDB3 MYOT
10 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 DNAJB6 MYOT
11 myopathy, distal, with anterior tibial onset 10.0 MYOT TTN
12 spinocerebellar ataxia 11 9.9 MYOT TTN
13 lyme disease 9.9 MYOT TTN
14 fibular hemimelia, bilateral 9.9 LDB3 TTN
15 fibular hemimelia, unilateral 9.9 LDB3 TTN
16 congenital absence of upper arm and forearm with hand present, bilateral 9.9 LDB3 TTN
17 myopathy 9.8
18 neuronitis 9.8
19 pollen allergy 9.8 LDB3 TTN
20 myopathy, early-onset, with fatal cardiomyopathy 9.8 LDB3 MYOT TTN
21 primary cutaneous gamma/delta-positive t-cell lymphoma 9.8 LDB3 TTN
22 spindle cell sarcoma 9.7 LDB3 MYOT TTN
23 familial partial lipodystrophy 9.7 LDB3 TTN
24 nonsyndromic hearing loss and deafness, mitochondrial 9.6 DNAJB6 LDB3 MYOT TTN
25 celiac disease 2 9.6 DNAJB6 LDB3 MYOT TTN
26 autoimmune thyroid disease 2 9.2 DNAJB6 INA LDB3 MYOT REST TTN

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



Diseases related to Myopathy, Myofibrillar, 3

Symptoms & Phenotypes for Myopathy, Myofibrillar, 3

Symptoms by clinical synopsis from OMIM:

609200

Clinical features from OMIM:

609200

Human phenotypes related to Myopathy, Myofibrillar, 3:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 myalgia 32 HP:0003326
2 elevated serum creatine phosphokinase 32 HP:0003236
3 cardiomyopathy 32 HP:0001638
4 areflexia 32 HP:0001284
5 polyneuropathy 32 HP:0001271
6 myofibrillar myopathy 32 HP:0003715
7 proximal muscle weakness 32 HP:0003701
8 distal amyotrophy 32 HP:0003693
9 muscle stiffness 32 HP:0003552
10 hyporeflexia of lower limbs 32 HP:0002600
11 achilles tendon contracture 32 HP:0001771
12 progressive distal muscle weakness 32 HP:0009063
13 muscle fiber cytoplasmatic inclusion bodies 32 HP:0100303

GenomeRNAi Phenotypes related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased ionizing radiation sensitivity GR00232-A-1 8.92 INA MYOT REST TTN

Drugs & Therapeutics for Myopathy, Myofibrillar, 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Myopathy, Myofibrillar, 3

Genetic Tests for Myopathy, Myofibrillar, 3

Genetic tests related to Myopathy, Myofibrillar, 3:

id Genetic test Affiliating Genes
1 Myotilinopathy 29 24 MYOT

Anatomical Context for Myopathy, Myofibrillar, 3

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

39
Skeletal Muscle

Publications for Myopathy, Myofibrillar, 3

Variations for Myopathy, Myofibrillar, 3

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

66
id Symbol AA change Variation ID SNP ID
1 MYOT p.Ser55Phe VAR_021569
2 MYOT p.Ser60Cys VAR_021571
3 MYOT p.Ser60Phe VAR_021572
4 MYOT p.Ser95Ile VAR_021573

ClinVar genetic disease variations for Myopathy, Myofibrillar, 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYOT NM_006790.2(MYOT): c.164C> T (p.Ser55Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908457 GRCh37 Chromosome 5, 137206504: 137206504
2 MYOT NM_006790.2(MYOT): c.179C> G (p.Ser60Cys) single nucleotide variant Pathogenic rs121908458 GRCh37 Chromosome 5, 137206519: 137206519
3 MYOT NM_006790.2(MYOT): c.179C> T (p.Ser60Phe) single nucleotide variant Pathogenic rs121908458 GRCh37 Chromosome 5, 137206519: 137206519
4 MYOT NM_006790.2(MYOT): c.284G> T (p.Ser95Ile) single nucleotide variant Pathogenic rs121908460 GRCh37 Chromosome 5, 137206624: 137206624

Expression for Myopathy, Myofibrillar, 3

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

Pathways for Myopathy, Myofibrillar, 3

GO Terms for Myopathy, Myofibrillar, 3

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

id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.92 DNAJB6 LDB3 MYOT TTN

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

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 8.96 MYOT TTN
2 sarcomere organization GO:0045214 8.62 LDB3 TTN

Molecular functions related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.96 MYOT TTN
2 muscle alpha-actinin binding GO:0051371 8.62 LDB3 TTN

Sources for Myopathy, Myofibrillar, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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