CNM6
MCID: MYP150
MIFTS: 24

Myopathy, Centronuclear, 6, with Fiber-Type Disproportion (CNM6)

Categories: Genetic diseases, Muscle diseases

Aliases & Classifications for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

MalaCards integrated aliases for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion:

Name: Myopathy, Centronuclear, 6, with Fiber-Type Disproportion 57 72 29 6
Centronuclear Myopathy 6 with Fiber-Type Disproportion 57 12 15
Cnm6 57 12 72
Myopathy, Centronuclear, Type 6, with Fiber-Type Disproportion 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in infancy or early childhood
one patient had a favorable response to anticholinesterase inhibitors
three consanguineous families have been reported (last curated november 2017)


HPO:

31
myopathy, centronuclear, 6, with fiber-type disproportion:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0111221
OMIM® 57 617760
OMIM Phenotypic Series 57 PS160150
MeSH 44 D020914

Summaries for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

UniProtKB/Swiss-Prot : 72 Myopathy, centronuclear, 6, with fiber-type disproportion: A form of centronuclear myopathy, 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. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood.

MalaCards based summary : Myopathy, Centronuclear, 6, with Fiber-Type Disproportion, also known as centronuclear myopathy 6 with fiber-type disproportion, is related to split-foot malformation with mesoaxial polydactyly and split-hand/foot malformation 1. An important gene associated with Myopathy, Centronuclear, 6, with Fiber-Type Disproportion is MAP3K20 (Mitogen-Activated Protein Kinase Kinase Kinase 20). Affiliated tissues include skeletal muscle, and related phenotypes are rimmed vacuoles and scoliosis

Disease Ontology : 12 A congenital fiber-type disproportion characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has material basis in homozygous or compound heterozygous mutation in ZAK on 2q31.1.

OMIM® : 57 CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy. For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (160150). (617760) (Updated 20-May-2021)

Related Diseases for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Diseases related to Myopathy, Centronuclear, 6, with Fiber-Type Disproportion via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 split-foot malformation with mesoaxial polydactyly 9.6 MAP3K20-AS1 MAP3K20
2 split-hand/foot malformation 1 9.6 MAP3K20-AS1 MAP3K20
3 isolated split hand-split foot malformation 9.5 MAP3K20-AS1 MAP3K20
4 split hand-foot malformation 9.4 MAP3K20-AS1 MAP3K20

Symptoms & Phenotypes for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Human phenotypes related to Myopathy, Centronuclear, 6, with Fiber-Type Disproportion:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 rimmed vacuoles 31 very rare (1%) HP:0003805
2 scoliosis 31 HP:0002650
3 hyperlordosis 31 HP:0003307
4 skeletal muscle atrophy 31 HP:0003202
5 waddling gait 31 HP:0002515
6 motor delay 31 HP:0001270
7 easy fatigability 31 HP:0003388
8 reduced vital capacity 31 HP:0002792
9 calf muscle hypertrophy 31 HP:0008981
10 generalized hypotonia 31 HP:0001290
11 distal muscle weakness 31 HP:0002460
12 proximal muscle weakness 31 HP:0003701
13 muscle spasm 31 HP:0003394
14 increased connective tissue 31 HP:0009025

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
lordosis

Muscle Soft Tissue:
easy fatigability
distal muscle weakness
proximal muscle weakness
increased connective tissue
hypotonia
more
Respiratory:
decreased vital capacity, mild

Skeletal:
proximal contractures (in some patients)

Neurologic Central Nervous System:
waddling gait
delayed motor development
impaired walking

Laboratory Abnormalities:
normal or mildly increased serum creatine kinase

Chest Ribs Sternum Clavicles And Scapulae:
winged scapula

Clinical features from OMIM®:

617760 (Updated 20-May-2021)

Drugs & Therapeutics for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Search Clinical Trials , NIH Clinical Center for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Genetic Tests for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Genetic tests related to Myopathy, Centronuclear, 6, with Fiber-Type Disproportion:

# Genetic test Affiliating Genes
1 Myopathy, Centronuclear, 6, with Fiber-Type Disproportion 29 MAP3K20

Anatomical Context for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

MalaCards organs/tissues related to Myopathy, Centronuclear, 6, with Fiber-Type Disproportion:

40
Skeletal Muscle

Publications for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Articles related to Myopathy, Centronuclear, 6, with Fiber-Type Disproportion:

# Title Authors PMID Year
1
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. 57 6
27816943 2017
2
A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. 6 57
16760198 2006

Variations for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

ClinVar genetic disease variations for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAP3K20 NM_016653.3(MAP3K20):c.515G>A (p.Trp172Ter) SNV Pathogenic 446159 rs1553578407 GRCh37: 2:174055838-174055838
GRCh38: 2:173191110-173191110
2 MAP3K20 NM_016653.3(MAP3K20):c.282dup (p.Asn95Ter) Duplication Pathogenic 446160 rs1553576774 GRCh37: 2:174047614-174047615
GRCh38: 2:173182886-173182887
3 MAP3K20 NM_016653.3(MAP3K20):c.490_491del (p.Met164fs) Deletion Pathogenic 446158 rs1293675104 GRCh37: 2:174055813-174055814
GRCh38: 2:173191085-173191086
4 MAP3K20-AS1 , MAP3K20 NM_016653.3(MAP3K20):c.2263A>T (p.Arg755Ter) SNV Pathogenic 1030575 GRCh37: 2:174131338-174131338
GRCh38: 2:173266610-173266610

Expression for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Search GEO for disease gene expression data for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion.

Pathways for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

GO Terms for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Sources for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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