CNM4
MCID: MYP098
MIFTS: 33

Myopathy, Centronuclear, 4 (CNM4)

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

Aliases & Classifications for Myopathy, Centronuclear, 4

MalaCards integrated aliases for Myopathy, Centronuclear, 4:

Name: Myopathy, Centronuclear, 4 57 72 29 13 6 70
Cnm4 57 12 58 72
Centronuclear Myopathy 4 57 12 15
Congenital Myopathy with Internal Nuclei and Atypical Cores 58
Myopathy, Centronuclear, Type 4 39
Centronuclear Myopathy Type 4 58

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
myopathy, centronuclear, 4:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111224
OMIM® 57 614807
OMIM Phenotypic Series 57 PS160150
MeSH 44 D020914
ICD10 via Orphanet 33 G71.2
Orphanet 58 ORPHA319160
UMLS 70 C3553709

Summaries for Myopathy, Centronuclear, 4

UniProtKB/Swiss-Prot : 72 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, also known as cnm4, is related to congenital muscular dystrophy-dystroglycanopathy a14 and spinocerebellar ataxia, autosomal recessive 10, 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

Disease Ontology : 12 An autosomal dominant centronuclear myopathy that has material basis in heterozygous mutation in CCDC78 on 16p13.3.

More information from OMIM: 614807 PS160150

Related Diseases for Myopathy, Centronuclear, 4

Graphical network of the top 20 diseases related to Myopathy, Centronuclear, 4:



Diseases related to Myopathy, Centronuclear, 4

Symptoms & Phenotypes for Myopathy, Centronuclear, 4

Human phenotypes related to Myopathy, Centronuclear, 4:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 cognitive impairment 31 HP:0100543
3 fatigue 31 HP:0012378
4 myalgia 31 HP:0003326
5 generalized hypotonia 31 HP:0001290
6 centrally nucleated skeletal muscle fibers 31 HP:0003687

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Myopathy, Centronuclear, 4:


myalgia

MGI Mouse Phenotypes related to Myopathy, Centronuclear, 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.7 ALG14 CFAP53 MYF6 MYO9A PDCD10 POR
2 growth/size/body region MP:0005378 9.56 ALG14 CFAP53 MYF6 MYO9A PDCD10 POR
3 mortality/aging MP:0010768 9.23 ALG14 CFAP53 CYP3A7 MYF6 PDCD10 POR

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:

40
Skeletal Muscle

Publications for Myopathy, Centronuclear, 4

Articles related to Myopathy, Centronuclear, 4:

# Title Authors PMID Year
1
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. 57 6
22818856 2012

Variations for Myopathy, Centronuclear, 4

ClinVar genetic disease variations for Myopathy, Centronuclear, 4:

6 (show top 50) (show all 166)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC78 NM_001031737.3(CCDC78):c.61-1G>A SNV Pathogenic 37091 rs1006891646 GRCh37: 16:776086-776086
GRCh38: 16:726086-726086
2 CCDC78 NM_001031737.3(CCDC78):c.811C>T (p.Arg271Trp) SNV Likely pathogenic 800966 rs200865845 GRCh37: 16:774464-774464
GRCh38: 16:724464-724464
3 CCDC78 NM_001378030.1(CCDC78):c.155C>T (p.Ala52Val) SNV Uncertain significance 834801 GRCh37: 16:775991-775991
GRCh38: 16:725991-725991
4 CCDC78 NM_001378030.1(CCDC78):c.425A>G (p.His142Arg) SNV Uncertain significance 839691 GRCh37: 16:775423-775423
GRCh38: 16:725423-725423
5 CCDC78 NM_001378030.1(CCDC78):c.931G>T (p.Glu311Ter) SNV Uncertain significance 845172 GRCh37: 16:774344-774344
GRCh38: 16:724344-724344
6 CCDC78 NM_001378030.1(CCDC78):c.101G>A (p.Gly34Glu) SNV Uncertain significance 849270 GRCh37: 16:776045-776045
GRCh38: 16:726045-726045
7 CCDC78 NM_001378030.1(CCDC78):c.1060G>A (p.Gly354Arg) SNV Uncertain significance 849337 GRCh37: 16:773930-773930
GRCh38: 16:723930-723930
8 CCDC78 NM_001378030.1(CCDC78):c.196G>A (p.Val66Ile) SNV Uncertain significance 938788 GRCh37: 16:775865-775865
GRCh38: 16:725865-725865
9 CCDC78 NM_001031737.3(CCDC78):c.1136G>A (p.Gly379Asp) SNV Uncertain significance 804682 rs1296158476 GRCh37: 16:773159-773159
GRCh38: 16:723159-723159
10 CCDC78 NM_001378030.1(CCDC78):c.329G>T (p.Gly110Val) SNV Uncertain significance 946061 GRCh37: 16:775519-775519
GRCh38: 16:725519-725519
11 CCDC78 NM_001378030.1(CCDC78):c.341C>G (p.Pro114Arg) SNV Uncertain significance 946547 GRCh37: 16:775507-775507
GRCh38: 16:725507-725507
12 CCDC78 NM_001378030.1(CCDC78):c.736C>T (p.Arg246Trp) SNV Uncertain significance 948844 GRCh37: 16:774710-774710
GRCh38: 16:724710-724710
13 CCDC78 NM_001378030.1(CCDC78):c.954G>A (p.Arg318=) SNV Uncertain significance 949244 GRCh37: 16:774205-774205
GRCh38: 16:724205-724205
14 CCDC78 NM_001378030.1(CCDC78):c.47G>A (p.Arg16Gln) SNV Uncertain significance 959461 GRCh37: 16:776321-776321
GRCh38: 16:726321-726321
15 CCDC78 NM_001031737.3(CCDC78):c.1178G>C (p.Arg393Pro) SNV Uncertain significance 962591 rs376513788 GRCh37: 16:773117-773117
GRCh38: 16:723117-723117
16 CCDC78 NM_001378030.1(CCDC78):c.325C>T (p.Gln109Ter) SNV Uncertain significance 971278 GRCh37: 16:775523-775523
GRCh38: 16:725523-725523
17 CCDC78 NM_001031737.3(CCDC78):c.910G>C (p.Val304Leu) SNV Uncertain significance 473270 rs1014754418 GRCh37: 16:774365-774365
GRCh38: 16:724365-724365
18 CCDC78 NM_001031737.3(CCDC78):c.468T>G (p.Asn156Lys) SNV Uncertain significance 473259 rs370998388 GRCh37: 16:775261-775261
GRCh38: 16:725261-725261
19 CCDC78 NM_001031737.3(CCDC78):c.973G>C (p.Ala325Pro) SNV Uncertain significance 447011 rs780197880 GRCh37: 16:774186-774186
GRCh38: 16:724186-724186
20 CCDC78 NM_001031737.3(CCDC78):c.1244G>A (p.Trp415Ter) SNV Uncertain significance 569162 rs1045075829 GRCh37: 16:772975-772975
GRCh38: 16:722975-722975
21 CCDC78 NM_001031737.3(CCDC78):c.50G>A (p.Arg17Gln) SNV Uncertain significance 652990 rs1046402338 GRCh37: 16:776318-776318
GRCh38: 16:726318-726318
22 CCDC78 NM_001378030.1(CCDC78):c.107C>G (p.Thr36Ser) SNV Uncertain significance 842782 GRCh37: 16:776039-776039
GRCh38: 16:726039-726039
23 CCDC78 NM_001378030.1(CCDC78):c.574C>T (p.Arg192Trp) SNV Uncertain significance 936353 GRCh37: 16:774976-774976
GRCh38: 16:724976-724976
24 CCDC78 NM_001378030.1(CCDC78):c.955_956delinsAA (p.Ala319Lys) Indel Uncertain significance 946851 GRCh37: 16:774203-774204
GRCh38: 16:724203-724204
25 CCDC78 NM_001378030.1(CCDC78):c.769C>T (p.His257Tyr) SNV Uncertain significance 998970 GRCh37: 16:774506-774506
GRCh38: 16:724506-724506
26 CCDC78 NM_001378030.1(CCDC78):c.1043G>T (p.Arg348Leu) SNV Uncertain significance 1001168 GRCh37: 16:774116-774116
GRCh38: 16:724116-724116
27 CCDC78 NM_001378030.1(CCDC78):c.109G>A (p.Ala37Thr) SNV Uncertain significance 1001979 GRCh37: 16:776037-776037
GRCh38: 16:726037-726037
28 CCDC78 NM_001378030.1(CCDC78):c.1302-1G>C SNV Uncertain significance 1002905 GRCh37: 16:772790-772790
GRCh38: 16:722790-722790
29 CCDC78 NM_001378030.1(CCDC78):c.902A>G (p.Lys301Arg) SNV Uncertain significance 1004465 GRCh37: 16:774373-774373
GRCh38: 16:724373-724373
30 CCDC78 NM_001378030.1(CCDC78):c.658G>A (p.Gly220Ser) SNV Uncertain significance 1010683 GRCh37: 16:774788-774788
GRCh38: 16:724788-724788
31 CCDC78 NM_001378030.1(CCDC78):c.61G>A (p.Val21Ile) SNV Uncertain significance 1011769 GRCh37: 16:776085-776085
GRCh38: 16:726085-726085
32 CCDC78 NM_001031737.3(CCDC78):c.200A>G (p.Asp67Gly) SNV Uncertain significance 473254 rs150363147 GRCh37: 16:775861-775861
GRCh38: 16:725861-725861
33 CCDC78 NM_001031737.3(CCDC78):c.1271G>A (p.Arg424Lys) SNV Uncertain significance 473252 rs760280521 GRCh37: 16:772948-772948
GRCh38: 16:722948-722948
34 CCDC78 NM_001031737.3(CCDC78):c.863G>A (p.Arg288His) SNV Uncertain significance 473268 rs200154277 GRCh37: 16:774412-774412
GRCh38: 16:724412-724412
35 CCDC78 NM_001031737.3(CCDC78):c.692G>A (p.Arg231Gln) SNV Uncertain significance 473263 rs147504073 GRCh37: 16:774754-774754
GRCh38: 16:724754-724754
36 CCDC78 NM_001031737.3(CCDC78):c.683A>C (p.Glu228Ala) SNV Uncertain significance 566102 rs749951287 GRCh37: 16:774763-774763
GRCh38: 16:724763-724763
37 CCDC78 NM_001031737.3(CCDC78):c.866A>T (p.Glu289Val) SNV Uncertain significance 651051 rs371760552 GRCh37: 16:774409-774409
GRCh38: 16:724409-724409
38 CCDC78 NM_001031737.3(CCDC78):c.1059C>T (p.Gly353=) SNV Uncertain significance 656254 rs773310049 GRCh37: 16:773931-773931
GRCh38: 16:723931-723931
39 CCDC78 NM_001031737.3(CCDC78):c.70C>T (p.Arg24Ter) SNV Uncertain significance 503661 rs887921636 GRCh37: 16:776076-776076
GRCh38: 16:726076-726076
40 CCDC78 NM_001031737.3(CCDC78):c.492+6T>C SNV Uncertain significance 664865 rs1283039950 GRCh37: 16:775231-775231
GRCh38: 16:725231-725231
41 CCDC78 NM_001378030.1(CCDC78):c.267G>A (p.Glu89=) SNV Uncertain significance 853628 GRCh37: 16:775794-775794
GRCh38: 16:725794-725794
42 CCDC78 NM_001378030.1(CCDC78):c.436-2A>G SNV Uncertain significance 856401 GRCh37: 16:775295-775295
GRCh38: 16:725295-725295
43 CCDC78 NM_001378030.1(CCDC78):c.275G>A (p.Arg92Gln) SNV Uncertain significance 944724 GRCh37: 16:775573-775573
GRCh38: 16:725573-725573
44 CCDC78 NM_001378030.1(CCDC78):c.890G>A (p.Arg297His) SNV Uncertain significance 947899 GRCh37: 16:774385-774385
GRCh38: 16:724385-724385
45 CCDC78 NM_001378030.1(CCDC78):c.238G>A (p.Glu80Lys) SNV Uncertain significance 949475 GRCh37: 16:775823-775823
GRCh38: 16:725823-725823
46 CCDC78 NM_001378030.1(CCDC78):c.80A>G (p.Asp27Gly) SNV Uncertain significance 950865 GRCh37: 16:776066-776066
GRCh38: 16:726066-726066
47 CCDC78 NM_001378030.1(CCDC78):c.1178G>A (p.Arg393Gln) SNV Uncertain significance 952202 GRCh37: 16:773117-773117
GRCh38: 16:723117-723117
48 CCDC78 NM_001378030.1(CCDC78):c.862C>T (p.Arg288Cys) SNV Uncertain significance 966902 GRCh37: 16:774413-774413
GRCh38: 16:724413-724413
49 CCDC78 NM_001378030.1(CCDC78):c.40C>T (p.Pro14Ser) SNV Uncertain significance 968194 GRCh37: 16:776328-776328
GRCh38: 16:726328-726328
50 CCDC78 NM_001378030.1(CCDC78):c.1114G>A (p.Gly372Arg) SNV Uncertain significance 1016101 GRCh37: 16:773876-773876
GRCh38: 16:723876-723876

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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