MCID: MYP098
MIFTS: 20

Myopathy, Centronuclear, 4

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

Aliases & Classifications for Myopathy, Centronuclear, 4

MalaCards integrated aliases for Myopathy, Centronuclear, 4:

Name: Myopathy, Centronuclear, 4 57 75 29 13 6 73
Cnm4 57 59 75
Congenital Myopathy with Internal Nuclei and Atypical Cores 59
Myopathy, Centronuclear, Type 4 40
Centronuclear Myopathy Type 4 59
Centronuclear Myopathy 4 57

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
ambulation is preserved
one family with 5 affected members has been reported (last curated september 2012)


HPO:

32
myopathy, centronuclear, 4:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 614807
Orphanet 59 ORPHA319160
ICD10 via Orphanet 34 G71.2
MeSH 44 D020914
SNOMED-CT via HPO 69 263681008 68962001 386806002
UMLS 73 C3553709

Summaries for Myopathy, Centronuclear, 4

UniProtKB/Swiss-Prot : 75 Myopathy, centronuclear, 4: 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, 4, is also known as cnm4, and has symptoms including myalgia An important gene associated with Myopathy, Centronuclear, 4 is CCDC78 (Coiled-Coil Domain Containing 78). Related phenotypes are cognitive impairment and myalgia

Description from OMIM: 614807

Related Diseases for Myopathy, Centronuclear, 4

Symptoms & Phenotypes for Myopathy, Centronuclear, 4

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle weakness, distal more than proximal
hypotonia
myalgias
easy fatigue
central cores seen on muscle biopsy
more
Laboratory Abnormalities:
normal serum creatine kinase

Neurologic Central Nervous System:
cognitive impairment, mild


Clinical features from OMIM:

614807

Human phenotypes related to Myopathy, Centronuclear, 4:

32
# Description HPO Frequency HPO Source Accession
1 cognitive impairment 32 HP:0100543
2 myalgia 32 HP:0003326
3 generalized hypotonia 32 HP:0001290

UMLS symptoms related to Myopathy, Centronuclear, 4:


myalgia

Drugs & Therapeutics for Myopathy, Centronuclear, 4

Search Clinical Trials , NIH Clinical Center for Myopathy, Centronuclear, 4

Genetic Tests for Myopathy, Centronuclear, 4

Genetic tests related to Myopathy, Centronuclear, 4:

# Genetic test Affiliating Genes
1 Myopathy, Centronuclear, 4 29 CCDC78

Anatomical Context for Myopathy, Centronuclear, 4

Publications for Myopathy, Centronuclear, 4

Variations for Myopathy, Centronuclear, 4

ClinVar genetic disease variations for Myopathy, Centronuclear, 4:

6
(show top 50) (show all 101)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC78 CCDC78, IVS1AS, G-A, -1 single nucleotide variant Pathogenic
2 CCDC78 NM_001031737.2(CCDC78): c.1134-9C> T single nucleotide variant Benign rs199505710 GRCh37 Chromosome 16, 773170: 773170
3 CCDC78 NM_001031737.2(CCDC78): c.1134-9C> T single nucleotide variant Benign rs199505710 GRCh38 Chromosome 16, 723170: 723170
4 CCDC78 NM_001031737.2(CCDC78): c.490G> A (p.Gly164Ser) single nucleotide variant Benign rs200747487 GRCh37 Chromosome 16, 775239: 775239
5 CCDC78 NM_001031737.2(CCDC78): c.490G> A (p.Gly164Ser) single nucleotide variant Benign rs200747487 GRCh38 Chromosome 16, 725239: 725239
6 CCDC78 NM_001031737.2(CCDC78): c.492+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs138669350 GRCh37 Chromosome 16, 775236: 775236
7 CCDC78 NM_001031737.2(CCDC78): c.492+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs138669350 GRCh38 Chromosome 16, 725236: 725236
8 CCDC78 NM_001031737.2(CCDC78): c.730G> A (p.Val244Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs752077571 GRCh37 Chromosome 16, 774716: 774716
9 CCDC78 NM_001031737.2(CCDC78): c.730G> A (p.Val244Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs752077571 GRCh38 Chromosome 16, 724716: 724716
10 CCDC78 NM_001031737.2(CCDC78): c.60T> C (p.Asn20=) single nucleotide variant Benign/Likely benign rs73489339 GRCh38 Chromosome 16, 726308: 726308
11 CCDC78 NM_001031737.2(CCDC78): c.60T> C (p.Asn20=) single nucleotide variant Benign/Likely benign rs73489339 GRCh37 Chromosome 16, 776308: 776308
12 CCDC78 NM_001031737.2(CCDC78): c.1234G> A (p.Gly412Arg) single nucleotide variant Benign/Likely benign rs148276717 GRCh38 Chromosome 16, 722985: 722985
13 CCDC78 NM_001031737.2(CCDC78): c.1234G> A (p.Gly412Arg) single nucleotide variant Benign/Likely benign rs148276717 GRCh37 Chromosome 16, 772985: 772985
14 CCDC78 NM_001031737.2(CCDC78): c.1190G> A (p.Arg397His) single nucleotide variant Likely benign rs150304459 GRCh37 Chromosome 16, 773105: 773105
15 CCDC78 NM_001031737.2(CCDC78): c.1190G> A (p.Arg397His) single nucleotide variant Likely benign rs150304459 GRCh38 Chromosome 16, 723105: 723105
16 CCDC78 NM_001031737.2(CCDC78): c.973G> C (p.Ala325Pro) single nucleotide variant Uncertain significance rs780197880 GRCh37 Chromosome 16, 774186: 774186
17 CCDC78 NM_001031737.2(CCDC78): c.973G> C (p.Ala325Pro) single nucleotide variant Uncertain significance rs780197880 GRCh38 Chromosome 16, 724186: 724186
18 CCDC78 NM_001031737.2(CCDC78): c.953+10G> A single nucleotide variant Benign/Likely benign rs79863898 GRCh37 Chromosome 16, 774312: 774312
19 CCDC78 NM_001031737.2(CCDC78): c.953+10G> A single nucleotide variant Benign/Likely benign rs79863898 GRCh38 Chromosome 16, 724312: 724312
20 CCDC78 NM_001031737.2(CCDC78): c.384G> T (p.Glu128Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs145274257 GRCh38 Chromosome 16, 725464: 725464
21 CCDC78 NM_001031737.2(CCDC78): c.384G> T (p.Glu128Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs145274257 GRCh37 Chromosome 16, 775464: 775464
22 CCDC78 NM_001031737.2(CCDC78): c.1298-8C> A single nucleotide variant Likely benign rs201006875 GRCh38 Chromosome 16, 722797: 722797
23 CCDC78 NM_001031737.2(CCDC78): c.1298-8C> A single nucleotide variant Likely benign rs201006875 GRCh37 Chromosome 16, 772797: 772797
24 CCDC78 NM_001031737.2(CCDC78): c.1271G> A (p.Arg424Lys) single nucleotide variant Uncertain significance rs760280521 GRCh38 Chromosome 16, 722948: 722948
25 CCDC78 NM_001031737.2(CCDC78): c.1271G> A (p.Arg424Lys) single nucleotide variant Uncertain significance rs760280521 GRCh37 Chromosome 16, 772948: 772948
26 CCDC78 NM_001031737.2(CCDC78): c.1210G> A (p.Gly404Arg) single nucleotide variant Uncertain significance rs771507948 GRCh38 Chromosome 16, 723009: 723009
27 CCDC78 NM_001031737.2(CCDC78): c.1210G> A (p.Gly404Arg) single nucleotide variant Uncertain significance rs771507948 GRCh37 Chromosome 16, 773009: 773009
28 CCDC78 NM_001031737.2(CCDC78): c.1103G> A (p.Gly368Glu) single nucleotide variant Uncertain significance rs145971446 GRCh38 Chromosome 16, 723887: 723887
29 CCDC78 NM_001031737.2(CCDC78): c.1103G> A (p.Gly368Glu) single nucleotide variant Uncertain significance rs145971446 GRCh37 Chromosome 16, 773887: 773887
30 CCDC78 NM_001031737.2(CCDC78): c.863G> A (p.Arg288His) single nucleotide variant Uncertain significance rs200154277 GRCh38 Chromosome 16, 724412: 724412
31 CCDC78 NM_001031737.2(CCDC78): c.863G> A (p.Arg288His) single nucleotide variant Uncertain significance rs200154277 GRCh37 Chromosome 16, 774412: 774412
32 CCDC78 NM_001031737.2(CCDC78): c.492C> T (p.Gly164=) single nucleotide variant Uncertain significance rs144396385 GRCh38 Chromosome 16, 725237: 725237
33 CCDC78 NM_001031737.2(CCDC78): c.492C> T (p.Gly164=) single nucleotide variant Uncertain significance rs144396385 GRCh37 Chromosome 16, 775237: 775237
34 CCDC78 NM_001031737.2(CCDC78): c.368G> A (p.Arg123Gln) single nucleotide variant Uncertain significance rs201924732 GRCh38 Chromosome 16, 725480: 725480
35 CCDC78 NM_001031737.2(CCDC78): c.368G> A (p.Arg123Gln) single nucleotide variant Uncertain significance rs201924732 GRCh37 Chromosome 16, 775480: 775480
36 CCDC78 NM_001031737.2(CCDC78): c.365C> T (p.Pro122Leu) single nucleotide variant Uncertain significance rs745392382 GRCh38 Chromosome 16, 725483: 725483
37 CCDC78 NM_001031737.2(CCDC78): c.365C> T (p.Pro122Leu) single nucleotide variant Uncertain significance rs745392382 GRCh37 Chromosome 16, 775483: 775483
38 CCDC78 NM_001031737.2(CCDC78): c.1241G> A (p.Arg414Gln) single nucleotide variant Likely benign rs146067716 GRCh38 Chromosome 16, 722978: 722978
39 CCDC78 NM_001031737.2(CCDC78): c.1241G> A (p.Arg414Gln) single nucleotide variant Likely benign rs146067716 GRCh37 Chromosome 16, 772978: 772978
40 CCDC78 NM_001031737.2(CCDC78): c.1098C> T (p.Pro366=) single nucleotide variant Benign rs140104512 GRCh38 Chromosome 16, 723892: 723892
41 CCDC78 NM_001031737.2(CCDC78): c.1098C> T (p.Pro366=) single nucleotide variant Benign rs140104512 GRCh37 Chromosome 16, 773892: 773892
42 CCDC78 NM_001031737.2(CCDC78): c.1039C> T (p.His347Tyr) single nucleotide variant Uncertain significance rs369908634 GRCh38 Chromosome 16, 724120: 724120
43 CCDC78 NM_001031737.2(CCDC78): c.1039C> T (p.His347Tyr) single nucleotide variant Uncertain significance rs369908634 GRCh37 Chromosome 16, 774120: 774120
44 CCDC78 NM_001031737.2(CCDC78): c.889C> T (p.Arg297Cys) single nucleotide variant Benign rs61998220 GRCh38 Chromosome 16, 724386: 724386
45 CCDC78 NM_001031737.2(CCDC78): c.889C> T (p.Arg297Cys) single nucleotide variant Benign rs61998220 GRCh37 Chromosome 16, 774386: 774386
46 CCDC78 NM_001031737.2(CCDC78): c.737G> A (p.Arg246Gln) single nucleotide variant Likely benign rs147606575 GRCh38 Chromosome 16, 724709: 724709
47 CCDC78 NM_001031737.2(CCDC78): c.737G> A (p.Arg246Gln) single nucleotide variant Likely benign rs147606575 GRCh37 Chromosome 16, 774709: 774709
48 CCDC78 NM_001031737.2(CCDC78): c.200A> G (p.Asp67Gly) single nucleotide variant Uncertain significance rs150363147 GRCh38 Chromosome 16, 725861: 725861
49 CCDC78 NM_001031737.2(CCDC78): c.200A> G (p.Asp67Gly) single nucleotide variant Uncertain significance rs150363147 GRCh37 Chromosome 16, 775861: 775861
50 CCDC78 NM_001031737.2(CCDC78): c.765+8C> G single nucleotide variant Likely benign rs753039480 GRCh37 Chromosome 16, 774673: 774673

Expression for Myopathy, Centronuclear, 4

Search GEO for disease gene expression data for Myopathy, Centronuclear, 4.

Pathways for Myopathy, Centronuclear, 4

GO Terms for Myopathy, Centronuclear, 4

Sources for Myopathy, Centronuclear, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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44 MeSH
45 MESH via Orphanet
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54 NINDS
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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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