CNM4
MCID: MYP098
MIFTS: 22

Myopathy, Centronuclear, 4 (CNM4)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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
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). Affiliated tissues include bone and skeletal muscle, and related phenotypes are muscle weakness and cognitive impairment

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:
hypotonia
myalgias
centralized nuclei
muscle weakness, distal more than proximal
easy fatigue
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 (show all 6)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 cognitive impairment 32 HP:0100543
3 fatigue 32 HP:0012378
4 myalgia 32 HP:0003326
5 generalized hypotonia 32 HP:0001290
6 centrally nucleated skeletal muscle fibers 32 HP:0003687

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

MalaCards organs/tissues related to Myopathy, Centronuclear, 4:

41
Bone, Skeletal Muscle

Publications for Myopathy, Centronuclear, 4

Variations for Myopathy, Centronuclear, 4

ClinVar genetic disease variations for Myopathy, Centronuclear, 4:

6 (show top 50) (show all 157)
# 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.549G> A (p.Leu183=) single nucleotide variant Benign rs8055909 GRCh37 Chromosome 16, 775089: 775089
3 CCDC78 NM_001031737.2(CCDC78): c.549G> A (p.Leu183=) single nucleotide variant Benign rs8055909 GRCh38 Chromosome 16, 725089: 725089
4 CCDC78 NM_001031737.2(CCDC78): c.712A> C (p.Lys238Gln) single nucleotide variant Benign rs142136104 GRCh37 Chromosome 16, 774734: 774734
5 CCDC78 NM_001031737.2(CCDC78): c.712A> C (p.Lys238Gln) single nucleotide variant Benign rs142136104 GRCh38 Chromosome 16, 724734: 724734
6 CCDC78 NM_001031737.2(CCDC78): c.803C> T (p.Thr268Met) single nucleotide variant Benign rs77707419 GRCh37 Chromosome 16, 774472: 774472
7 CCDC78 NM_001031737.2(CCDC78): c.803C> T (p.Thr268Met) single nucleotide variant Benign rs77707419 GRCh38 Chromosome 16, 724472: 724472
8 CCDC78 NM_001031737.2(CCDC78): c.937C> T (p.Leu313=) single nucleotide variant Benign rs61998209 GRCh37 Chromosome 16, 774338: 774338
9 CCDC78 NM_001031737.2(CCDC78): c.937C> T (p.Leu313=) single nucleotide variant Benign rs61998209 GRCh38 Chromosome 16, 724338: 724338
10 CCDC78 NM_001031737.2(CCDC78): c.966C> A (p.Asn322Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148595483 GRCh37 Chromosome 16, 774193: 774193
11 CCDC78 NM_001031737.2(CCDC78): c.966C> A (p.Asn322Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148595483 GRCh38 Chromosome 16, 724193: 724193
12 CCDC78 NM_001031737.2(CCDC78): c.1134-9C> T single nucleotide variant Benign/Likely benign rs199505710 GRCh37 Chromosome 16, 773170: 773170
13 CCDC78 NM_001031737.2(CCDC78): c.1134-9C> T single nucleotide variant Benign/Likely benign rs199505710 GRCh38 Chromosome 16, 723170: 723170
14 CCDC78 NM_001031737.2(CCDC78): c.490G> A (p.Gly164Ser) single nucleotide variant Benign rs200747487 GRCh37 Chromosome 16, 775239: 775239
15 CCDC78 NM_001031737.2(CCDC78): c.490G> A (p.Gly164Ser) single nucleotide variant Benign rs200747487 GRCh38 Chromosome 16, 725239: 725239
16 CCDC78 NM_001031737.2(CCDC78): c.492+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs138669350 GRCh37 Chromosome 16, 775236: 775236
17 CCDC78 NM_001031737.2(CCDC78): c.492+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs138669350 GRCh38 Chromosome 16, 725236: 725236
18 CCDC78 NM_001031737.2(CCDC78): c.730G> A (p.Val244Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs752077571 GRCh38 Chromosome 16, 724716: 724716
19 CCDC78 NM_001031737.2(CCDC78): c.730G> A (p.Val244Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs752077571 GRCh37 Chromosome 16, 774716: 774716
20 CCDC78 NM_001031737.2(CCDC78): c.60T> C (p.Asn20=) single nucleotide variant Benign/Likely benign rs73489339 GRCh38 Chromosome 16, 726308: 726308
21 CCDC78 NM_001031737.2(CCDC78): c.60T> C (p.Asn20=) single nucleotide variant Benign/Likely benign rs73489339 GRCh37 Chromosome 16, 776308: 776308
22 CCDC78 NM_001031737.2(CCDC78): c.1234G> A (p.Gly412Arg) single nucleotide variant Benign/Likely benign rs148276717 GRCh38 Chromosome 16, 722985: 722985
23 CCDC78 NM_001031737.2(CCDC78): c.1234G> A (p.Gly412Arg) single nucleotide variant Benign/Likely benign rs148276717 GRCh37 Chromosome 16, 772985: 772985
24 CCDC78 NM_001031737.2(CCDC78): c.1190G> A (p.Arg397His) single nucleotide variant Likely benign rs150304459 GRCh37 Chromosome 16, 773105: 773105
25 CCDC78 NM_001031737.2(CCDC78): c.1190G> A (p.Arg397His) single nucleotide variant Likely benign rs150304459 GRCh38 Chromosome 16, 723105: 723105
26 CCDC78 NM_001031737.2(CCDC78): c.973G> C (p.Ala325Pro) single nucleotide variant Uncertain significance rs780197880 GRCh38 Chromosome 16, 724186: 724186
27 CCDC78 NM_001031737.2(CCDC78): c.973G> C (p.Ala325Pro) single nucleotide variant Uncertain significance rs780197880 GRCh37 Chromosome 16, 774186: 774186
28 CCDC78 NM_001031737.2(CCDC78): c.953+10G> A single nucleotide variant Benign/Likely benign rs79863898 GRCh38 Chromosome 16, 724312: 724312
29 CCDC78 NM_001031737.2(CCDC78): c.953+10G> A single nucleotide variant Benign/Likely benign rs79863898 GRCh37 Chromosome 16, 774312: 774312
30 CCDC78 NM_001031737.2(CCDC78): c.384G> T (p.Glu128Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs145274257 GRCh38 Chromosome 16, 725464: 725464
31 CCDC78 NM_001031737.2(CCDC78): c.384G> T (p.Glu128Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs145274257 GRCh37 Chromosome 16, 775464: 775464
32 CCDC78 NM_001031737.2(CCDC78): c.1298-8C> A single nucleotide variant Likely benign rs201006875 GRCh38 Chromosome 16, 722797: 722797
33 CCDC78 NM_001031737.2(CCDC78): c.1298-8C> A single nucleotide variant Likely benign rs201006875 GRCh37 Chromosome 16, 772797: 772797
34 CCDC78 NM_001031737.2(CCDC78): c.1271G> A (p.Arg424Lys) single nucleotide variant Uncertain significance rs760280521 GRCh38 Chromosome 16, 722948: 722948
35 CCDC78 NM_001031737.2(CCDC78): c.1271G> A (p.Arg424Lys) single nucleotide variant Uncertain significance rs760280521 GRCh37 Chromosome 16, 772948: 772948
36 CCDC78 NM_001031737.2(CCDC78): c.1210G> A (p.Gly404Arg) single nucleotide variant Uncertain significance rs771507948 GRCh38 Chromosome 16, 723009: 723009
37 CCDC78 NM_001031737.2(CCDC78): c.1210G> A (p.Gly404Arg) single nucleotide variant Uncertain significance rs771507948 GRCh37 Chromosome 16, 773009: 773009
38 CCDC78 NM_001031737.2(CCDC78): c.1103G> A (p.Gly368Glu) single nucleotide variant Uncertain significance rs145971446 GRCh38 Chromosome 16, 723887: 723887
39 CCDC78 NM_001031737.2(CCDC78): c.1103G> A (p.Gly368Glu) single nucleotide variant Uncertain significance rs145971446 GRCh37 Chromosome 16, 773887: 773887
40 CCDC78 NM_001031737.2(CCDC78): c.863G> A (p.Arg288His) single nucleotide variant Uncertain significance rs200154277 GRCh38 Chromosome 16, 724412: 724412
41 CCDC78 NM_001031737.2(CCDC78): c.863G> A (p.Arg288His) single nucleotide variant Uncertain significance rs200154277 GRCh37 Chromosome 16, 774412: 774412
42 CCDC78 NM_001031737.2(CCDC78): c.492C> T (p.Gly164=) single nucleotide variant Uncertain significance rs144396385 GRCh38 Chromosome 16, 725237: 725237
43 CCDC78 NM_001031737.2(CCDC78): c.492C> T (p.Gly164=) single nucleotide variant Uncertain significance rs144396385 GRCh37 Chromosome 16, 775237: 775237
44 CCDC78 NM_001031737.2(CCDC78): c.368G> A (p.Arg123Gln) single nucleotide variant Uncertain significance rs201924732 GRCh38 Chromosome 16, 725480: 725480
45 CCDC78 NM_001031737.2(CCDC78): c.368G> A (p.Arg123Gln) single nucleotide variant Uncertain significance rs201924732 GRCh37 Chromosome 16, 775480: 775480
46 CCDC78 NM_001031737.2(CCDC78): c.365C> T (p.Pro122Leu) single nucleotide variant Uncertain significance rs745392382 GRCh38 Chromosome 16, 725483: 725483
47 CCDC78 NM_001031737.2(CCDC78): c.365C> T (p.Pro122Leu) single nucleotide variant Uncertain significance rs745392382 GRCh37 Chromosome 16, 775483: 775483
48 CCDC78 NM_001031737.2(CCDC78): c.1241G> A (p.Arg414Gln) single nucleotide variant Likely benign rs146067716 GRCh38 Chromosome 16, 722978: 722978
49 CCDC78 NM_001031737.2(CCDC78): c.1241G> A (p.Arg414Gln) single nucleotide variant Likely benign rs146067716 GRCh37 Chromosome 16, 772978: 772978
50 CCDC78 NM_001031737.2(CCDC78): c.1098C> T (p.Pro366=) single nucleotide variant Benign rs140104512 GRCh38 Chromosome 16, 723892: 723892

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

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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