CNM4
MCID: MYP098
MIFTS: 21

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 58 76 30 13 6 74
Cnm4 58 60 76
Congenital Myopathy with Internal Nuclei and Atypical Cores 60
Myopathy, Centronuclear, Type 4 41
Centronuclear Myopathy Type 4 60
Centronuclear Myopathy 4 58

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
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:

33
myopathy, centronuclear, 4:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 614807
MeSH 45 D020914
ICD10 via Orphanet 35 G71.2
Orphanet 60 ORPHA319160
UMLS 74 C3553709

Summaries for Myopathy, Centronuclear, 4

UniProtKB/Swiss-Prot : 76 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 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

Human phenotypes related to Myopathy, Centronuclear, 4:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 HP:0001324
2 cognitive impairment 33 HP:0100543
3 fatigue 33 HP:0012378
4 myalgia 33 HP:0003326
5 generalized hypotonia 33 HP:0001290
6 centrally nucleated skeletal muscle fibers 33 HP:0003687

Symptoms via clinical synopsis from OMIM:

58
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

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 30 CCDC78

Anatomical Context for Myopathy, Centronuclear, 4

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

42
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 158)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC78 NM_001031737.2(CCDC78): c.61-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 16, 726086: 726086
2 CCDC78 NM_001031737.2(CCDC78): c.61-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 16, 776086: 776086
3 CCDC78 NM_001031737.2(CCDC78): c.549G> A (p.Leu183=) single nucleotide variant Benign rs8055909 GRCh37 Chromosome 16, 775089: 775089
4 CCDC78 NM_001031737.2(CCDC78): c.549G> A (p.Leu183=) single nucleotide variant Benign rs8055909 GRCh38 Chromosome 16, 725089: 725089
5 CCDC78 NM_001031737.2(CCDC78): c.712A> C (p.Lys238Gln) single nucleotide variant Benign rs142136104 GRCh37 Chromosome 16, 774734: 774734
6 CCDC78 NM_001031737.2(CCDC78): c.712A> C (p.Lys238Gln) single nucleotide variant Benign rs142136104 GRCh38 Chromosome 16, 724734: 724734
7 CCDC78 NM_001031737.2(CCDC78): c.803C> T (p.Thr268Met) single nucleotide variant Benign rs77707419 GRCh37 Chromosome 16, 774472: 774472
8 CCDC78 NM_001031737.2(CCDC78): c.803C> T (p.Thr268Met) single nucleotide variant Benign rs77707419 GRCh38 Chromosome 16, 724472: 724472
9 CCDC78 NM_001031737.2(CCDC78): c.937C> T (p.Leu313=) single nucleotide variant Benign rs61998209 GRCh37 Chromosome 16, 774338: 774338
10 CCDC78 NM_001031737.2(CCDC78): c.937C> T (p.Leu313=) single nucleotide variant Benign rs61998209 GRCh38 Chromosome 16, 724338: 724338
11 CCDC78 NM_001031737.2(CCDC78): c.966C> A (p.Asn322Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148595483 GRCh37 Chromosome 16, 774193: 774193
12 CCDC78 NM_001031737.2(CCDC78): c.966C> A (p.Asn322Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148595483 GRCh38 Chromosome 16, 724193: 724193
13 CCDC78 NM_001031737.2(CCDC78): c.1134-9C> T single nucleotide variant Benign/Likely benign rs199505710 GRCh37 Chromosome 16, 773170: 773170
14 CCDC78 NM_001031737.2(CCDC78): c.1134-9C> T single nucleotide variant Benign/Likely benign rs199505710 GRCh38 Chromosome 16, 723170: 723170
15 CCDC78 NM_001031737.2(CCDC78): c.490G> A (p.Gly164Ser) single nucleotide variant Benign rs200747487 GRCh37 Chromosome 16, 775239: 775239
16 CCDC78 NM_001031737.2(CCDC78): c.490G> A (p.Gly164Ser) single nucleotide variant Benign rs200747487 GRCh38 Chromosome 16, 725239: 725239
17 CCDC78 NM_001031737.2(CCDC78): c.492+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs138669350 GRCh37 Chromosome 16, 775236: 775236
18 CCDC78 NM_001031737.2(CCDC78): c.492+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs138669350 GRCh38 Chromosome 16, 725236: 725236
19 CCDC78 NM_001031737.2(CCDC78): c.730G> A (p.Val244Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs752077571 GRCh38 Chromosome 16, 724716: 724716
20 CCDC78 NM_001031737.2(CCDC78): c.730G> A (p.Val244Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs752077571 GRCh37 Chromosome 16, 774716: 774716
21 CCDC78 NM_001031737.2(CCDC78): c.60T> C (p.Asn20=) single nucleotide variant Benign/Likely benign rs73489339 GRCh38 Chromosome 16, 726308: 726308
22 CCDC78 NM_001031737.2(CCDC78): c.60T> C (p.Asn20=) single nucleotide variant Benign/Likely benign rs73489339 GRCh37 Chromosome 16, 776308: 776308
23 CCDC78 NM_001031737.2(CCDC78): c.1234G> A (p.Gly412Arg) single nucleotide variant Benign/Likely benign rs148276717 GRCh38 Chromosome 16, 722985: 722985
24 CCDC78 NM_001031737.2(CCDC78): c.1234G> A (p.Gly412Arg) single nucleotide variant Benign/Likely benign rs148276717 GRCh37 Chromosome 16, 772985: 772985
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.1190G> A (p.Arg397His) single nucleotide variant Likely benign rs150304459 GRCh37 Chromosome 16, 773105: 773105
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.973G> C (p.Ala325Pro) single nucleotide variant Uncertain significance rs780197880 GRCh38 Chromosome 16, 724186: 724186
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.953+10G> A single nucleotide variant Benign/Likely benign rs79863898 GRCh38 Chromosome 16, 724312: 724312
31 CCDC78 NM_001031737.2(CCDC78): c.384G> T (p.Glu128Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs145274257 GRCh38 Chromosome 16, 725464: 725464
32 CCDC78 NM_001031737.2(CCDC78): c.384G> T (p.Glu128Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs145274257 GRCh37 Chromosome 16, 775464: 775464
33 CCDC78 NM_001031737.2(CCDC78): c.1298-8C> A single nucleotide variant Likely benign rs201006875 GRCh38 Chromosome 16, 722797: 722797
34 CCDC78 NM_001031737.2(CCDC78): c.1298-8C> A single nucleotide variant Likely benign rs201006875 GRCh37 Chromosome 16, 772797: 772797
35 CCDC78 NM_001031737.2(CCDC78): c.1271G> A (p.Arg424Lys) single nucleotide variant Uncertain significance rs760280521 GRCh38 Chromosome 16, 722948: 722948
36 CCDC78 NM_001031737.2(CCDC78): c.1271G> A (p.Arg424Lys) single nucleotide variant Uncertain significance rs760280521 GRCh37 Chromosome 16, 772948: 772948
37 CCDC78 NM_001031737.2(CCDC78): c.1210G> A (p.Gly404Arg) single nucleotide variant Uncertain significance rs771507948 GRCh38 Chromosome 16, 723009: 723009
38 CCDC78 NM_001031737.2(CCDC78): c.1210G> A (p.Gly404Arg) single nucleotide variant Uncertain significance rs771507948 GRCh37 Chromosome 16, 773009: 773009
39 CCDC78 NM_001031737.2(CCDC78): c.1103G> A (p.Gly368Glu) single nucleotide variant Uncertain significance rs145971446 GRCh38 Chromosome 16, 723887: 723887
40 CCDC78 NM_001031737.2(CCDC78): c.1103G> A (p.Gly368Glu) single nucleotide variant Uncertain significance rs145971446 GRCh37 Chromosome 16, 773887: 773887
41 CCDC78 NM_001031737.2(CCDC78): c.863G> A (p.Arg288His) single nucleotide variant Uncertain significance rs200154277 GRCh38 Chromosome 16, 724412: 724412
42 CCDC78 NM_001031737.2(CCDC78): c.863G> A (p.Arg288His) single nucleotide variant Uncertain significance rs200154277 GRCh37 Chromosome 16, 774412: 774412
43 CCDC78 NM_001031737.2(CCDC78): c.492C> T (p.Gly164=) single nucleotide variant Uncertain significance rs144396385 GRCh38 Chromosome 16, 725237: 725237
44 CCDC78 NM_001031737.2(CCDC78): c.492C> T (p.Gly164=) single nucleotide variant Uncertain significance rs144396385 GRCh37 Chromosome 16, 775237: 775237
45 CCDC78 NM_001031737.2(CCDC78): c.368G> A (p.Arg123Gln) single nucleotide variant Uncertain significance rs201924732 GRCh38 Chromosome 16, 725480: 725480
46 CCDC78 NM_001031737.2(CCDC78): c.368G> A (p.Arg123Gln) single nucleotide variant Uncertain significance rs201924732 GRCh37 Chromosome 16, 775480: 775480
47 CCDC78 NM_001031737.2(CCDC78): c.365C> T (p.Pro122Leu) single nucleotide variant Uncertain significance rs745392382 GRCh38 Chromosome 16, 725483: 725483
48 CCDC78 NM_001031737.2(CCDC78): c.365C> T (p.Pro122Leu) single nucleotide variant Uncertain significance rs745392382 GRCh37 Chromosome 16, 775483: 775483
49 CCDC78 NM_001031737.2(CCDC78): c.1241G> A (p.Arg414Gln) single nucleotide variant Likely benign rs146067716 GRCh38 Chromosome 16, 722978: 722978
50 CCDC78 NM_001031737.2(CCDC78): c.1241G> A (p.Arg414Gln) single nucleotide variant Likely benign rs146067716 GRCh37 Chromosome 16, 772978: 772978

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 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
Content
Loading form....