MCID: MYP096
MIFTS: 18

Myopathy, Centronuclear, 3

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

Aliases & Classifications for Myopathy, Centronuclear, 3

MalaCards integrated aliases for Myopathy, Centronuclear, 3:

Name: Myopathy, Centronuclear, 3 57 75 29 13 6 73
Cnm3 57 75
Myopathy, Centronuclear, Type 3 40
Centronuclear Myopathy 3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
mild phenotype
onset in late childhood
one patient has been reported (as of december 2011)


HPO:

32
myopathy, centronuclear, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614408
MedGen 42 C3280703
MeSH 44 D020914
UMLS 73 C3280703

Summaries for Myopathy, Centronuclear, 3

UniProtKB/Swiss-Prot : 75 Myopathy, centronuclear, 3: 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.

MalaCards based summary : Myopathy, Centronuclear, 3, is also known as cnm3. An important gene associated with Myopathy, Centronuclear, 3 is MYF6 (Myogenic Factor 6). Related phenotypes are muscle weakness and elevated serum creatine phosphokinase

Description from OMIM: 614408

Related Diseases for Myopathy, Centronuclear, 3

Symptoms & Phenotypes for Myopathy, Centronuclear, 3

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle weakness, lower limbs, during exercise
muscle cramps during exercise
muscle biopsy showed myopathic changes
ring fibers
increased centralized internal nuclei

Laboratory Abnormalities:
variably increased serum creatine kinase


Clinical features from OMIM:

614408

Human phenotypes related to Myopathy, Centronuclear, 3:

32
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 elevated serum creatine phosphokinase 32 HP:0003236
3 muscle cramps 32 HP:0003394
4 ring fibers 32 HP:0100305

Drugs & Therapeutics for Myopathy, Centronuclear, 3

Search Clinical Trials , NIH Clinical Center for Myopathy, Centronuclear, 3

Genetic Tests for Myopathy, Centronuclear, 3

Genetic tests related to Myopathy, Centronuclear, 3:

# Genetic test Affiliating Genes
1 Myopathy, Centronuclear, 3 29 MYF6

Anatomical Context for Myopathy, Centronuclear, 3

Publications for Myopathy, Centronuclear, 3

Variations for Myopathy, Centronuclear, 3

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

75
# Symbol AA change Variation ID SNP ID
1 MYF6 p.Ala90Asp VAR_004493 rs138296448
2 MYF6 p.Ala112Ser VAR_004494 rs28928909

ClinVar genetic disease variations for Myopathy, Centronuclear, 3:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYF6 NM_002469.2(MYF6): c.528T> C (p.Gly176=) single nucleotide variant Likely benign rs145205388 GRCh38 Chromosome 12, 80708532: 80708532
2 MYF6 NM_002469.2(MYF6): c.528T> C (p.Gly176=) single nucleotide variant Likely benign rs145205388 GRCh37 Chromosome 12, 81102311: 81102311
3 MYF6 NM_002469.2(MYF6): c.46G> A (p.Asp16Asn) single nucleotide variant Uncertain significance rs749523828 GRCh38 Chromosome 12, 80707765: 80707765
4 MYF6 NM_002469.2(MYF6): c.46G> A (p.Asp16Asn) single nucleotide variant Uncertain significance rs749523828 GRCh37 Chromosome 12, 81101544: 81101544
5 MYF6 NM_002469.2(MYF6): c.331G> C (p.Glu111Gln) single nucleotide variant Uncertain significance rs773695133 GRCh37 Chromosome 12, 81101829: 81101829
6 MYF6 NM_002469.2(MYF6): c.331G> C (p.Glu111Gln) single nucleotide variant Uncertain significance rs773695133 GRCh38 Chromosome 12, 80708050: 80708050
7 MYF6 NM_002469.2(MYF6): c.347T> C (p.Leu116Pro) single nucleotide variant Likely benign rs200372502 GRCh37 Chromosome 12, 81101845: 81101845
8 MYF6 NM_002469.2(MYF6): c.347T> C (p.Leu116Pro) single nucleotide variant Likely benign rs200372502 GRCh38 Chromosome 12, 80708066: 80708066
9 MYF6 NM_002469.2(MYF6): c.544A> C (p.Thr182Pro) single nucleotide variant Likely benign rs141278987 GRCh38 Chromosome 12, 80708548: 80708548
10 MYF6 NM_002469.2(MYF6): c.544A> C (p.Thr182Pro) single nucleotide variant Likely benign rs141278987 GRCh37 Chromosome 12, 81102327: 81102327
11 MYF6 NM_002469.2(MYF6): c.184G> A (p.Val62Ile) single nucleotide variant Uncertain significance rs190471225 GRCh37 Chromosome 12, 81101682: 81101682
12 MYF6 NM_002469.2(MYF6): c.184G> A (p.Val62Ile) single nucleotide variant Uncertain significance rs190471225 GRCh38 Chromosome 12, 80707903: 80707903
13 MYF6 NM_002469.2(MYF6): c.269C> A (p.Ala90Asp) single nucleotide variant Likely benign rs138296448 GRCh38 Chromosome 12, 80707988: 80707988
14 MYF6 NM_002469.2(MYF6): c.269C> A (p.Ala90Asp) single nucleotide variant Likely benign rs138296448 GRCh37 Chromosome 12, 81101767: 81101767
15 MYF6 NM_002469.2(MYF6): c.352C> A (p.Arg118=) single nucleotide variant Benign rs34563783 GRCh38 Chromosome 12, 80708071: 80708071
16 MYF6 NM_002469.2(MYF6): c.352C> A (p.Arg118=) single nucleotide variant Benign rs34563783 GRCh37 Chromosome 12, 81101850: 81101850
17 MYF6 NM_002469.2(MYF6): c.575A> C (p.Asp192Ala) single nucleotide variant Uncertain significance rs146824657 GRCh38 Chromosome 12, 80708579: 80708579
18 MYF6 NM_002469.2(MYF6): c.575A> C (p.Asp192Ala) single nucleotide variant Uncertain significance rs146824657 GRCh37 Chromosome 12, 81102358: 81102358
19 MYF6 NM_002469.2(MYF6): c.369C> T (p.Asn123=) single nucleotide variant Likely benign rs777383223 GRCh37 Chromosome 12, 81101867: 81101867
20 MYF6 NM_002469.2(MYF6): c.369C> T (p.Asn123=) single nucleotide variant Likely benign rs777383223 GRCh38 Chromosome 12, 80708088: 80708088

Expression for Myopathy, Centronuclear, 3

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

Pathways for Myopathy, Centronuclear, 3

GO Terms for Myopathy, Centronuclear, 3

Sources for Myopathy, Centronuclear, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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