MCID: MYP148
MIFTS: 21

Myopathy, Centronuclear, 5

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

Aliases & Classifications for Myopathy, Centronuclear, 5

MalaCards integrated aliases for Myopathy, Centronuclear, 5:

Name: Myopathy, Centronuclear, 5 57 75 29 6 73
Cnm5 57 75
Myopathy, Centronuclear, Type 5 40
Centronuclear Myopathy 5 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
myopathy, centronuclear, 5:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myopathy, Centronuclear, 5

UniProtKB/Swiss-Prot : 75 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, is also known as cnm5, and has symptoms including ophthalmoplegia and facial paresis. An important gene associated with Myopathy, Centronuclear, 5 is SPEG (SPEG Complex Locus). Related phenotypes are narrow mouth and high palate

OMIM : 57 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

Symptoms & Phenotypes for Myopathy, Centronuclear, 5

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
micrognathia
retrognathia
facial weakness

Cardiovascular Heart:
dilated cardiomyopathy
valvular insufficiency

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

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Eyes:
ophthalmoplegia

Neurologic Central Nervous System:
delayed motor development

Laboratory Abnormalities:
normal serum creatine kinase

Skeletal Pelvis:
hip contractures


Clinical features from OMIM:

615959

Human phenotypes related to Myopathy, Centronuclear, 5:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 narrow mouth 32 HP:0000160
2 high palate 32 HP:0000218
3 retrognathia 32 HP:0000278
4 micrognathia 32 HP:0000347
5 ophthalmoplegia 32 HP:0000602
6 motor delay 32 HP:0001270
7 areflexia 32 HP:0001284
8 generalized hypotonia 32 HP:0001290
9 dilated cardiomyopathy 32 HP:0001644
10 respiratory insufficiency 32 HP:0002093
11 hip contracture 32 HP:0003273
12 axial muscle weakness 32 HP:0003327
13 severe muscular hypotonia 32 HP:0006829
14 facial palsy 32 HP:0010628

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 29 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:

75
# 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

Sources for Myopathy, Centronuclear, 5

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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