CNM4
MCID: MYP098
MIFTS: 25

Myopathy, Centronuclear, 4 (CNM4)

Categories: Bone diseases, 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 56 73 29 13 6 71
Cnm4 56 12 58 73
Centronuclear Myopathy 4 56 12
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:

56
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 56 614807
OMIM Phenotypic Series 56 PS160150
MeSH 43 D020914
ICD10 via Orphanet 33 G71.2
Orphanet 58 ORPHA319160
UMLS 71 C3553709

Summaries for Myopathy, Centronuclear, 4

UniProtKB/Swiss-Prot : 73 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

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

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 generalized hypotonia 31 HP:0001290
5 myalgia 31 HP:0003326
6 centrally nucleated skeletal muscle fibers 31 HP:0003687

Symptoms via clinical synopsis from OMIM:

56
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 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. 6 56
22818856 2012

Variations for Myopathy, Centronuclear, 4

ClinVar genetic disease variations for Myopathy, Centronuclear, 4:

6 (show top 50) (show all 99) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCDC78 NM_001031737.3(CCDC78):c.61-1G>ASNV Pathogenic 37091 rs1006891646 16:776086-776086 16:726086-726086
2 CCDC78 NM_001031737.3(CCDC78):c.492+1G>ASNV Conflicting interpretations of pathogenicity 265074 rs138669350 16:775236-775236 16:725236-725236
3 CCDC78 NM_001031737.3(CCDC78):c.730G>A (p.Val244Ile)SNV Conflicting interpretations of pathogenicity 434621 rs752077571 16:774716-774716 16:724716-724716
4 CCDC78 NM_001031737.3(CCDC78):c.966C>A (p.Asn322Lys)SNV Conflicting interpretations of pathogenicity 128634 rs148595483 16:774193-774193 16:724193-724193
5 CCDC78 NM_001031737.3(CCDC78):c.384G>T (p.Glu128Asp)SNV Conflicting interpretations of pathogenicity 447008 rs145274257 16:775464-775464 16:725464-725464
6 CCDC78 NM_001031737.3(CCDC78):c.104G>A (p.Gly35Asp)SNV Uncertain significance 447005 rs929692414 16:776042-776042 16:726042-726042
7 CCDC78 NM_001031737.3(CCDC78):c.1039C>T (p.His347Tyr)SNV Uncertain significance 473246 rs369908634 16:774120-774120 16:724120-724120
8 CCDC78 NM_001031737.3(CCDC78):c.973G>C (p.Ala325Pro)SNV Uncertain significance 447011 rs780197880 16:774186-774186 16:724186-724186
9 CCDC78 NM_001031737.3(CCDC78):c.691C>G (p.Arg231Gly)SNV Uncertain significance 473262 rs527479144 16:774755-774755 16:724755-724755
10 CCDC78 NM_001031737.3(CCDC78):c.472C>T (p.Gln158Ter)SNV Uncertain significance 473260 rs200825023 16:775257-775257 16:725257-725257
11 CCDC78 NM_001031737.3(CCDC78):c.468T>G (p.Asn156Lys)SNV Uncertain significance 473259 rs370998388 16:775261-775261 16:725261-725261
12 CCDC78 NM_001031737.3(CCDC78):c.356C>G (p.Pro119Arg)SNV Uncertain significance 473256 rs750379614 16:775492-775492 16:725492-725492
13 CCDC78 NM_001031737.3(CCDC78):c.356C>A (p.Pro119His)SNV Uncertain significance 473255 rs750379614 16:775492-775492 16:725492-725492
14 CCDC78 NM_001031737.3(CCDC78):c.1054-3T>CSNV Uncertain significance 473247 rs371542042 16:773939-773939 16:723939-723939
15 CCDC78 NM_001031737.3(CCDC78):c.910G>C (p.Val304Leu)SNV Uncertain significance 473270 rs1014754418 16:774365-774365 16:724365-724365
16 CCDC78 NM_001031737.3(CCDC78):c.772G>A (p.Ala258Thr)SNV Uncertain significance 473267 rs778696812 16:774503-774503 16:724503-724503
17 CCDC78 NM_001031737.3(CCDC78):c.754_755inv (p.Trp252Gln)inversion Uncertain significance 473265 16:774691-774692 16:724691-724692
18 CCDC78 NM_001031737.3(CCDC78):c.692G>A (p.Arg231Gln)SNV Uncertain significance 473263 rs147504073 16:774754-774754 16:724754-724754
19 CCDC78 NM_001031737.3(CCDC78):c.70C>T (p.Arg24Ter)SNV Uncertain significance 503661 rs887921636 16:776076-776076 16:726076-726076
20 CCDC78 NM_001031737.3(CCDC78):c.1271G>A (p.Arg424Lys)SNV Uncertain significance 473252 rs760280521 16:772948-772948 16:722948-722948
21 CCDC78 NM_001031737.3(CCDC78):c.1210G>A (p.Gly404Arg)SNV Uncertain significance 473250 rs771507948 16:773009-773009 16:723009-723009
22 CCDC78 NM_001031737.3(CCDC78):c.1103G>A (p.Gly368Glu)SNV Uncertain significance 473249 rs145971446 16:773887-773887 16:723887-723887
23 CCDC78 NM_001031737.3(CCDC78):c.863G>A (p.Arg288His)SNV Uncertain significance 473268 rs200154277 16:774412-774412 16:724412-724412
24 CCDC78 NM_001031737.3(CCDC78):c.492C>T (p.Gly164=)SNV Uncertain significance 473261 rs144396385 16:775237-775237 16:725237-725237
25 CCDC78 NM_001031737.3(CCDC78):c.368G>A (p.Arg123Gln)SNV Uncertain significance 473258 rs201924732 16:775480-775480 16:725480-725480
26 CCDC78 NM_001031737.3(CCDC78):c.365C>T (p.Pro122Leu)SNV Uncertain significance 473257 rs745392382 16:775483-775483 16:725483-725483
27 CCDC78 NM_001031737.3(CCDC78):c.509A>G (p.Lys170Arg)SNV Uncertain significance 540473 rs1555486210 16:775129-775129 16:725129-725129
28 CCDC78 NM_001031737.3(CCDC78):c.683A>C (p.Glu228Ala)SNV Uncertain significance 566102 16:774763-774763 16:724763-724763
29 CCDC78 NM_001031737.3(CCDC78):c.502G>A (p.Glu168Lys)SNV Uncertain significance 572015 16:775136-775136 16:725136-725136
30 CCDC78 NM_001031737.3(CCDC78):c.389G>A (p.Arg130Lys)SNV Uncertain significance 583302 16:775459-775459 16:725459-725459
31 CCDC78 NM_001031737.3(CCDC78):c.23G>A (p.Gly8Asp)SNV Uncertain significance 576318 16:776345-776345 16:726345-726345
32 CCDC78 NM_001031737.3(CCDC78):c.1277C>T (p.Thr426Met)SNV Uncertain significance 573114 16:772942-772942 16:722942-722942
33 CCDC78 NM_001031737.3(CCDC78):c.1244G>A (p.Trp415Ter)SNV Uncertain significance 569162 16:772975-772975 16:722975-722975
34 CCDC78 NM_001031737.3(CCDC78):c.1067G>A (p.Gly356Glu)SNV Uncertain significance 576274 rs1567315670 16:773923-773923 16:723923-723923
35 CCDC78 NM_001031737.3(CCDC78):c.898_900del (p.His300del)deletion Uncertain significance 582138 rs771582682 16:774375-774377 16:724375-724377
36 CCDC78 NM_001031737.3(CCDC78):c.812G>A (p.Arg271Gln)SNV Uncertain significance 575603 16:774463-774463 16:724463-724463
37 CCDC78 NM_001031737.3(CCDC78):c.751G>A (p.Ala251Thr)SNV Uncertain significance 580704 16:774695-774695 16:724695-724695
38 CCDC78 NM_001031737.3(CCDC78):c.711G>C (p.Lys237Asn)SNV Uncertain significance 567450 16:774735-774735 16:724735-724735
39 CCDC78 NM_001031737.3(CCDC78):c.707T>C (p.Leu236Pro)SNV Uncertain significance 580130 rs1352546137 16:774739-774739 16:724739-724739
40 CCDC78 NM_001031737.3(CCDC78):c.46C>T (p.Arg16Trp)SNV Uncertain significance 567439 16:776322-776322 16:726322-726322
41 CCDC78 NM_001031737.3(CCDC78):c.557G>A (p.Arg186His)SNV Uncertain significance 571330 16:775081-775081 16:725081-725081
42 CCDC78 NM_001031737.3(CCDC78):c.842T>A (p.Ile281Asn)SNV Uncertain significance 568027 16:774433-774433 16:724433-724433
43 CCDC78 NM_001031737.3(CCDC78):c.416C>T (p.Ser139Phe)SNV Uncertain significance 581756 16:775432-775432 16:725432-725432
44 CCDC78 NM_001031737.3(CCDC78):c.217C>T (p.His73Tyr)SNV Uncertain significance 581995 rs1477528084 16:775844-775844 16:725844-725844
45 CCDC78 NM_001031737.3(CCDC78):c.880C>T (p.Arg294Trp)SNV Uncertain significance 568175 16:774395-774395 16:724395-724395
46 CCDC78 NM_001031737.3(CCDC78):c.183C>G (p.Ile61Met)SNV Uncertain significance 573422 16:775878-775878 16:725878-725878
47 CCDC78 NM_001031737.3(CCDC78):c.874del (p.Leu292fs)deletion Uncertain significance 580734 rs746756519 16:774401-774401 16:724401-724401
48 CCDC78 NM_001031737.3(CCDC78):c.763G>A (p.Val255Met)SNV Uncertain significance 570386 16:774683-774683 16:724683-724683
49 CCDC78 NM_001031737.3(CCDC78):c.598G>A (p.Glu200Lys)SNV Uncertain significance 575613 16:774952-774952 16:724952-724952
50 CCDC78 NM_001031737.3(CCDC78):c.436G>T (p.Val146Leu)SNV Uncertain significance 576879 16:775293-775293 16:725293-725293

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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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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