CNM5
MCID: MYP148
MIFTS: 26

Myopathy, Centronuclear, 5 (CNM5)

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

Aliases & Classifications for Myopathy, Centronuclear, 5

MalaCards integrated aliases for Myopathy, Centronuclear, 5:

Name: Myopathy, Centronuclear, 5 58 76 30 6 74
Cnm5 58 76
Myopathy, Centronuclear, Type 5 41
Centronuclear Myopathy 5 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death may occur
three unrelated patients have been reported (last curated september 2014)


HPO:

33
myopathy, centronuclear, 5:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myopathy, Centronuclear, 5

UniProtKB/Swiss-Prot : 76 Myopathy, centronuclear, 5: A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM5 features include severe neonatal hypotonia with respiratory insufficiency, difficulty feeding, and delayed motor development. Some patients die in infancy, and some develop dilated cardiomyopathy.

MalaCards based summary : Myopathy, Centronuclear, 5, also known as cnm5, is related to dilated cardiomyopathy, and has symptoms including ophthalmoplegia and facial paresis. An important gene associated with Myopathy, Centronuclear, 5 is SPEG (Striated Muscle Enriched Protein Kinase). Related phenotypes are high palate and respiratory insufficiency

OMIM : 58 Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014). For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (160150). (615959)

Related Diseases for Myopathy, Centronuclear, 5

Diseases in the Centronuclear Myopathy family:

Myopathy, Centronuclear, 1 Myopathy, Centronuclear, 2
Myopathy, Centronuclear, 4 Myopathy, Centronuclear, 5

Diseases related to Myopathy, Centronuclear, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dilated cardiomyopathy 9.4 SPEG SPEGNB

Symptoms & Phenotypes for Myopathy, Centronuclear, 5

Human phenotypes related to Myopathy, Centronuclear, 5:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 high palate 33 HP:0000218
2 respiratory insufficiency 33 HP:0002093
3 facial palsy 33 HP:0010628
4 micrognathia 33 HP:0000347
5 retrognathia 33 HP:0000278
6 dilated cardiomyopathy 33 HP:0001644
7 motor delay 33 HP:0001270
8 ophthalmoplegia 33 HP:0000602
9 narrow mouth 33 HP:0000160
10 areflexia 33 HP:0001284
11 hip contracture 33 HP:0003273
12 axial muscle weakness 33 HP:0003327
13 severe muscular hypotonia 33 HP:0006829
14 generalized hypotonia 33 HP:0001290

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
micrognathia
retrognathia
facial weakness

Head And Neck Eyes:
ophthalmoplegia

Muscle Soft Tissue:
axial muscle weakness
hypotonia, severe, neonatal
myopathic features seen on biopsy
increased centralized nuclei

Head And Neck Mouth:
high-arched palate
microstomia

Abdomen Gastrointestinal:
poor feeding due to muscle weakness

Respiratory:
respiratory insufficiency, severe

Cardiovascular Heart:
dilated cardiomyopathy
valvular insufficiency

Neurologic Peripheral Nervous System:
areflexia

Neurologic Central Nervous System:
delayed motor development

Laboratory Abnormalities:
normal serum creatine kinase

Skeletal Pelvis:
hip contractures

Clinical features from OMIM:

615959

UMLS symptoms related to Myopathy, Centronuclear, 5:


ophthalmoplegia, facial paresis

Drugs & Therapeutics for Myopathy, Centronuclear, 5

Search Clinical Trials , NIH Clinical Center for Myopathy, Centronuclear, 5

Genetic Tests for Myopathy, Centronuclear, 5

Genetic tests related to Myopathy, Centronuclear, 5:

# Genetic test Affiliating Genes
1 Myopathy, Centronuclear, 5 30 SPEG

Anatomical Context for Myopathy, Centronuclear, 5

Publications for Myopathy, Centronuclear, 5

Variations for Myopathy, Centronuclear, 5

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Centronuclear, 5:

76
# Symbol AA change Variation ID SNP ID
1 SPEG p.Gly2757Val VAR_071808 rs587777676

ClinVar genetic disease variations for Myopathy, Centronuclear, 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPEG NM_005876.4(SPEG): c.6697C> T (p.Gln2233Ter) single nucleotide variant Pathogenic rs587777672 GRCh37 Chromosome 2, 220348882: 220348882
2 SPEG NM_005876.4(SPEG): c.6697C> T (p.Gln2233Ter) single nucleotide variant Pathogenic rs587777672 GRCh38 Chromosome 2, 219484160: 219484160
3 SPEG NM_005876.4(SPEG): c.4276C> T (p.Arg1426Ter) single nucleotide variant Pathogenic rs587777673 GRCh37 Chromosome 2, 220338454: 220338454
4 SPEG NM_005876.4(SPEG): c.4276C> T (p.Arg1426Ter) single nucleotide variant Pathogenic rs587777673 GRCh38 Chromosome 2, 219473732: 219473732
5 SPEG NM_005876.4(SPEG): c.3709_3715+29del36 deletion Pathogenic rs587777674 GRCh37 Chromosome 2, 220334095: 220334130
6 SPEG NM_005876.4(SPEG): c.3709_3715+29del36 deletion Pathogenic rs587777674 GRCh38 Chromosome 2, 219469373: 219469408
7 SPEG NM_005876.4(SPEG): c.2915_2916delCCinsA (p.Ala972Aspfs) indel Pathogenic rs587777675 GRCh37 Chromosome 2, 220331929: 220331930
8 SPEG NM_005876.4(SPEG): c.2915_2916delCCinsA (p.Ala972Aspfs) indel Pathogenic rs587777675 GRCh38 Chromosome 2, 219467207: 219467208
9 SPEG NM_005876.4(SPEG): c.8270G> T (p.Gly2757Val) single nucleotide variant Pathogenic rs587777676 GRCh37 Chromosome 2, 220353896: 220353896
10 SPEG NM_005876.4(SPEG): c.8270G> T (p.Gly2757Val) single nucleotide variant Pathogenic rs587777676 GRCh38 Chromosome 2, 219489174: 219489174

Expression for Myopathy, Centronuclear, 5

Search GEO for disease gene expression data for Myopathy, Centronuclear, 5.

Pathways for Myopathy, Centronuclear, 5

GO Terms for Myopathy, Centronuclear, 5

Biological processes related to Myopathy, Centronuclear, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.37 SPEG SPEGNB
2 protein phosphorylation GO:0006468 9.32 SPEG SPEGNB
3 negative regulation of cell proliferation GO:0008285 9.26 SPEG SPEGNB
4 muscle organ development GO:0007517 9.16 SPEG SPEGNB
5 cardiovascular system development GO:0072358 8.96 SPEG SPEGNB
6 muscle cell differentiation GO:0042692 8.62 SPEG SPEGNB

Molecular functions related to Myopathy, Centronuclear, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.16 SPEG SPEGNB
2 protein kinase activity GO:0004672 8.96 SPEG SPEGNB
3 protein serine/threonine kinase activity GO:0004674 8.62 SPEG SPEGNB

Sources for Myopathy, Centronuclear, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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