Myofibrillar Myopathy 10 (MFM10)

Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Myofibrillar Myopathy 10

MalaCards integrated aliases for Myofibrillar Myopathy 10:

Name: Myofibrillar Myopathy 10 57 12 6
Mfm10 57 12 72
Myopathy, Myofibrillar, 10 72



57 (Updated 05-Apr-2021)
autosomal recessive

onset in first or second decades
slowly progressive, leading to limited mobility
cardiac abnormalities may be subclinical
two unrelated consanguineous families have been reported (last curated october 2020)


myofibrillar myopathy 10:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset infantile onset congenital onset childhood onset


External Ids:

Disease Ontology 12 DOID:0112108
OMIM® 57 619040
OMIM Phenotypic Series 57 PS601419
MeSH 44 D020914
MedGen 41 CN293343

Summaries for Myofibrillar Myopathy 10

OMIM® : 57 Myofibrillar myopathy-10 (MFM10) is an autosomal recessive structural muscle disorder characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life. Some patients have mild contractures of the large joints apparent in early childhood. Affected individuals have a characteristic appearance of a thick neck and prominent shoulder girdle with anteverted shoulders and a tendency toward kyphosis. There is no apparent muscle weakness, but some affected individuals show progressive muscle rigidity leading to limited mobility. There is variable cardiac involvement, ranging from chest pain with left ventricular hypertrophy to subclinical signs such as abnormal EKG or elevated cardiac enzymes. Skeletal muscle biopsy shows structural abnormalities with myofibrillar disorganization and accumulation of autophagocytic vacuoles (summary by Hedberg-Oldfors et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (619040) (Updated 05-Apr-2021)

MalaCards based summary : Myofibrillar Myopathy 10, also known as mfm10, is related to myofibrillar myopathy and myopathy. An important gene associated with Myofibrillar Myopathy 10 is SVIL (Supervillin). Affiliated tissues include skeletal muscle, and related phenotypes are kyphosis and muscle weakness

Disease Ontology : 12 A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has material basis in homozygous or compound heterozygous mutation in SVIL on chromosome 10p11.23.

UniProtKB/Swiss-Prot : 72 Myopathy, myofibrillar, 10: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM10 is an autosomal recessive disorder characterized by muscle pain, cramping, exercise fatigue, and progressive muscle rigidity.

Related Diseases for Myofibrillar Myopathy 10

Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1 Myopathy, Myofibrillar, 2
Myopathy, Myofibrillar, 3 Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 6
Myopathy, Myofibrillar, 7 Myopathy, Myofibrillar, 8
Myofibrillar Myopathy 10 Myofibrillar Myopathy 11

Diseases related to Myofibrillar Myopathy 10 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myofibrillar myopathy 9.6 SVIL-AS1 SVIL
2 myopathy 9.5 SVIL-AS1 SVIL

Symptoms & Phenotypes for Myofibrillar Myopathy 10

Human phenotypes related to Myofibrillar Myopathy 10:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 kyphosis 31 very rare (1%) HP:0002808
2 muscle weakness 31 very rare (1%) HP:0001324
3 mandibular prognathia 31 very rare (1%) HP:0000303
4 broad neck 31 very rare (1%) HP:0000475
5 elevated serum creatine kinase 31 very rare (1%) HP:0003236
6 elbow flexion contracture 31 very rare (1%) HP:0002987
7 emg: myopathic abnormalities 31 very rare (1%) HP:0003458
8 left ventricular hypertrophy 31 very rare (1%) HP:0001712
9 myalgia 31 very rare (1%) HP:0003326
10 sandal gap 31 very rare (1%) HP:0001852
11 ankle flexion contracture 31 very rare (1%) HP:0006466
12 knee flexion contracture 31 very rare (1%) HP:0006380
13 flexion contracture of finger 31 very rare (1%) HP:0012785
14 muscle spasm 31 very rare (1%) HP:0003394
15 increased troponin i level in blood 31 very rare (1%) HP:0410173
16 prolonged qtc interval 31 very rare (1%) HP:0005184
17 increased qrs voltage 31 very rare (1%) HP:0025075
18 percussion myotonia 31 very rare (1%) HP:0010548
19 postexertional malaise 31 very rare (1%) HP:0030973

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:

Skeletal Limbs:
knee contractures
elbow contractures

Laboratory Abnormalities:
increased serum creatine kinase
increased troponin t

Head And Neck Neck:
wide neck

Chest Ribs Sternum Clavicles And Scapulae:
anteverted shoulders

Muscle Soft Tissue:
exercise intolerance
muscle rigidity
muscle cramps
muscle pain
Skeletal Hands:
finger contractures
syndactyly, mild (family a)

Cardiovascular Heart:
ekg abnormalities
cardiac muscle involvement
chest pain (family a)
left ventricular hypertrophy (family a)

Head And Neck Face:
mandibular protrusion (family b)

contractures, variable severity

Clinical features from OMIM®:

619040 (Updated 05-Apr-2021)

Drugs & Therapeutics for Myofibrillar Myopathy 10

Search Clinical Trials , NIH Clinical Center for Myofibrillar Myopathy 10

Genetic Tests for Myofibrillar Myopathy 10

Anatomical Context for Myofibrillar Myopathy 10

MalaCards organs/tissues related to Myofibrillar Myopathy 10:

Skeletal Muscle

Publications for Myofibrillar Myopathy 10

Articles related to Myofibrillar Myopathy 10:

# Title Authors PMID Year
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. 57 6
32779703 2020

Variations for Myofibrillar Myopathy 10

ClinVar genetic disease variations for Myofibrillar Myopathy 10:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SVIL-AS1 , SVIL NM_003174.3(SVIL):c.3534C>A (p.Tyr1178Ter) SNV Pathogenic 981487 GRCh37: 10:29773728-29773728
GRCh38: 10:29484799-29484799
2 SVIL NM_003174.3(SVIL):c.2300_2301del (p.Val767fs) Microsatellite Pathogenic 981488 GRCh37: 10:29788130-29788131
GRCh38: 10:29499201-29499202

Expression for Myofibrillar Myopathy 10

Search GEO for disease gene expression data for Myofibrillar Myopathy 10.

Pathways for Myofibrillar Myopathy 10

GO Terms for Myofibrillar Myopathy 10

Sources for Myofibrillar Myopathy 10

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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