MCID: MSC028
MIFTS: 39

Muscular Dystrophy, Congenital, Megaconial Type

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle diseases

Aliases & Classifications for Muscular Dystrophy, Congenital, Megaconial Type

MalaCards integrated aliases for Muscular Dystrophy, Congenital, Megaconial Type:

Name: Muscular Dystrophy, Congenital, Megaconial Type 57 53 29 13 6 73
Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect 12 53 59
Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities 12 53 59
Megaconial Congenital Muscular Dystrophy 12 53 59
Congenital Megaconial Myopathy 12 53 59
Megaconial Type Congenital Muscular Dystrophy 12 15
Muscular Dystrophy, Congenital, with Mitochondrial Structural Abnormalities 57
Dystrophy, Muscular, Congenital, Megaconial Type 40
Megaconial Congénital Muscular Dystrophy 53
Mdcmc 57

Characteristics:

Orphanet epidemiological data:

59
megaconial congenital muscular dystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset at birth
some patients may die from cardiomyopathy in the first or second decade of life


HPO:

32
muscular dystrophy, congenital, megaconial type:
Onset and clinical course congenital onset slow progression
Inheritance autosomal recessive inheritance mitochondrial inheritance


Classifications:



Summaries for Muscular Dystrophy, Congenital, Megaconial Type

OMIM : 57 This form of autosomal recessive congenital muscular dystrophy is characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011). (602541)

MalaCards based summary : Muscular Dystrophy, Congenital, Megaconial Type, also known as congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect, is related to hypersomnia and muscular dystrophy, congenital, lmna-related, and has symptoms including muscle weakness, waddling gait and facial paresis. An important gene associated with Muscular Dystrophy, Congenital, Megaconial Type is CHKB (Choline Kinase Beta), and among its related pathways/superpathways are Parkinsons Disease Pathway and Mitophagy - animal. Related phenotypes are intellectual disability and seizures

Disease Ontology : 12 A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has material basis in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13.

Related Diseases for Muscular Dystrophy, Congenital, Megaconial Type

Diseases related to Muscular Dystrophy, Congenital, Megaconial Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypersomnia 10.3 CHKB CPT1B
2 muscular dystrophy, congenital, lmna-related 10.1
3 muscular dystrophy 10.1
4 myopathy 10.0
5 parkinson disease 10 9.8 PINK1 PRKN
6 parkinson disease 2, autosomal recessive juvenile 9.7 PINK1 PRKN
7 creatine phosphokinase, elevated serum 9.7 CHKB LAMA2
8 early-onset parkinson's disease 9.6 PINK1 PRKN
9 movement disease 9.5 PINK1 PRKN
10 synucleinopathy 9.2 PINK1 PRKN

Graphical network of the top 20 diseases related to Muscular Dystrophy, Congenital, Megaconial Type:



Diseases related to Muscular Dystrophy, Congenital, Megaconial Type

Symptoms & Phenotypes for Muscular Dystrophy, Congenital, Megaconial Type

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle weakness
muscular dystrophy
gowers sign
hypotonia, neonatal
variation in fiber size
more
Skin Nails Hair Skin:
ichthyosis

Head And Neck Face:
facial muscle weakness

Cardiovascular Heart:
dilated cardiomyopathy (occurs in about 50%)

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
waddling gait
delayed motor development
mental retardation
poor speech development
some patients never achieve independent ambulation
more
Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

602541

Human phenotypes related to Muscular Dystrophy, Congenital, Megaconial Type:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 facial palsy 32 HP:0010628
4 delayed speech and language development 32 HP:0000750
5 microcephaly 32 HP:0000252
6 neonatal hypotonia 32 HP:0001319
7 ichthyosis 32 HP:0008064
8 myopathy 32 HP:0003198
9 elevated serum creatine phosphokinase 32 HP:0003236
10 motor delay 32 HP:0001270
11 muscular dystrophy 32 HP:0003560
12 congenital muscular dystrophy 32 HP:0003741
13 dilated cardiomyopathy 32 very rare (1%) HP:0001644
14 waddling gait 32 HP:0002515
15 poor speech 32 HP:0002465
16 gowers sign 32 HP:0003391

UMLS symptoms related to Muscular Dystrophy, Congenital, Megaconial Type:


muscle weakness, waddling gait, facial paresis

GenomeRNAi Phenotypes related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.55 PINK1
2 Decreased viability GR00221-A-1 9.55 CHKB PINK1
3 Decreased viability GR00221-A-2 9.55 CHKA CHKB PINK1
4 Decreased viability GR00221-A-3 9.55 CHKB PINK1
5 Decreased viability GR00221-A-4 9.55 CHKA CHKB PINK1
6 Decreased viability GR00301-A 9.55 CHKB PINK1
7 Decreased viability GR00342-S-2 9.55 CHKA
8 Decreased viability GR00402-S-2 9.55 CHKA CHKB PINK1
9 Decreased cella89culturea89derived Hepatitis C virus (HCVcc; Luca89Jc1) infection GR00234-A-2 8.96 CHKA CHKB

Drugs & Therapeutics for Muscular Dystrophy, Congenital, Megaconial Type

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Congenital, Megaconial Type

Genetic Tests for Muscular Dystrophy, Congenital, Megaconial Type

Genetic tests related to Muscular Dystrophy, Congenital, Megaconial Type:

# Genetic test Affiliating Genes
1 Muscular Dystrophy, Congenital, Megaconial Type 29 CHKB

Anatomical Context for Muscular Dystrophy, Congenital, Megaconial Type

Publications for Muscular Dystrophy, Congenital, Megaconial Type

Articles related to Muscular Dystrophy, Congenital, Megaconial Type:

# Title Authors Year
1
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. ( 21665002 )
2011
2
A new congenital muscular dystrophy with mitochondrial structural abnormalities. ( 9427222 )
1998

Variations for Muscular Dystrophy, Congenital, Megaconial Type

ClinVar genetic disease variations for Muscular Dystrophy, Congenital, Megaconial Type:

6
(show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHKB NM_005198.4(CHKB): c.810T> A (p.Tyr270Ter) single nucleotide variant Pathogenic rs750764003 GRCh37 Chromosome 22, 51018627: 51018627
2 CHKB NM_005198.4(CHKB): c.810T> A (p.Tyr270Ter) single nucleotide variant Pathogenic rs750764003 GRCh38 Chromosome 22, 50580198: 50580198
3 CHKB NM_005198.4(CHKB): c.116C> A (p.Ser39Ter) single nucleotide variant Pathogenic rs387907068 GRCh37 Chromosome 22, 51021095: 51021095
4 CHKB NM_005198.4(CHKB): c.116C> A (p.Ser39Ter) single nucleotide variant Pathogenic rs387907068 GRCh38 Chromosome 22, 50582666: 50582666
5 CHKB NM_005198.4(CHKB): c.458dupT (p.Leu153Phefs) duplication Pathogenic rs786205117 GRCh37 Chromosome 22, 51019972: 51019972
6 CHKB NM_005198.4(CHKB): c.458dupT (p.Leu153Phefs) duplication Pathogenic rs786205117 GRCh38 Chromosome 22, 50581543: 50581543
7 CHKB NM_005198.4(CHKB): c.922C> T (p.Gln308Ter) single nucleotide variant Pathogenic rs387907069 GRCh37 Chromosome 22, 51018408: 51018408
8 CHKB NM_005198.4(CHKB): c.922C> T (p.Gln308Ter) single nucleotide variant Pathogenic rs387907069 GRCh38 Chromosome 22, 50579979: 50579979
9 CHKB NM_005198.4(CHKB): c.677+1G> A single nucleotide variant Pathogenic rs786205118 GRCh37 Chromosome 22, 51018993: 51018993
10 CHKB NM_005198.4(CHKB): c.677+1G> A single nucleotide variant Pathogenic rs786205118 GRCh38 Chromosome 22, 50580564: 50580564
11 CHKB NM_005198.4(CHKB): c.670A> C (p.Asn224His) single nucleotide variant Conflicting interpretations of pathogenicity rs149858290 GRCh37 Chromosome 22, 51019001: 51019001
12 CHKB NM_005198.4(CHKB): c.670A> C (p.Asn224His) single nucleotide variant Conflicting interpretations of pathogenicity rs149858290 GRCh38 Chromosome 22, 50580572: 50580572
13 CHKB NM_005198.4(CHKB): c.457T> C (p.Leu153=) single nucleotide variant Likely benign rs146693439 GRCh37 Chromosome 22, 51019973: 51019973
14 CHKB NM_005198.4(CHKB): c.457T> C (p.Leu153=) single nucleotide variant Likely benign rs146693439 GRCh38 Chromosome 22, 50581544: 50581544
15 CHKB NM_005198.4(CHKB): c.249C> T (p.Phe83=) single nucleotide variant Conflicting interpretations of pathogenicity rs180979987 GRCh37 Chromosome 22, 51020762: 51020762
16 CHKB NM_005198.4(CHKB): c.249C> T (p.Phe83=) single nucleotide variant Conflicting interpretations of pathogenicity rs180979987 GRCh38 Chromosome 22, 50582333: 50582333
17 CHKB NM_005198.4(CHKB): c.940C> T (p.Arg314Cys) single nucleotide variant Uncertain significance rs200919604 GRCh37 Chromosome 22, 51018247: 51018247
18 CHKB NM_005198.4(CHKB): c.940C> T (p.Arg314Cys) single nucleotide variant Uncertain significance rs200919604 GRCh38 Chromosome 22, 50579818: 50579818
19 CHKB NM_005198.4(CHKB): c.149A> G (p.Tyr50Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138205828 GRCh38 Chromosome 22, 50582633: 50582633
20 CHKB NM_005198.4(CHKB): c.149A> G (p.Tyr50Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138205828 GRCh37 Chromosome 22, 51021062: 51021062
21 CHKB NM_005198.4(CHKB): c.597C> T (p.Ile199=) single nucleotide variant Likely benign rs146409721 GRCh37 Chromosome 22, 51019074: 51019074
22 CHKB NM_005198.4(CHKB): c.597C> T (p.Ile199=) single nucleotide variant Likely benign rs146409721 GRCh38 Chromosome 22, 50580645: 50580645
23 CHKB NM_005198.4(CHKB): c.14C> T (p.Ala5Val) single nucleotide variant Likely benign rs199703765 GRCh38 Chromosome 22, 50582768: 50582768
24 CHKB NM_005198.4(CHKB): c.14C> T (p.Ala5Val) single nucleotide variant Likely benign rs199703765 GRCh37 Chromosome 22, 51021197: 51021197
25 CHKB NM_005198.4(CHKB): c.856T> C (p.Tyr286His) single nucleotide variant Uncertain significance rs764474062 GRCh38 Chromosome 22, 50580045: 50580045
26 CHKB NM_005198.4(CHKB): c.856T> C (p.Tyr286His) single nucleotide variant Uncertain significance rs764474062 GRCh37 Chromosome 22, 51018474: 51018474
27 CHKB NM_005198.4(CHKB): c.501T> G (p.Ile167Met) single nucleotide variant Conflicting interpretations of pathogenicity rs199704510 GRCh38 Chromosome 22, 50581500: 50581500
28 CHKB NM_005198.4(CHKB): c.501T> G (p.Ile167Met) single nucleotide variant Conflicting interpretations of pathogenicity rs199704510 GRCh37 Chromosome 22, 51019929: 51019929
29 CHKB NM_005198.4(CHKB): c.594G> A (p.Gln198=) single nucleotide variant Likely benign GRCh37 Chromosome 22, 51019077: 51019077
30 CHKB NM_005198.4(CHKB): c.594G> A (p.Gln198=) single nucleotide variant Likely benign GRCh38 Chromosome 22, 50580648: 50580648
31 CHKB NM_005198.4(CHKB): c.577G> A (p.Glu193Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 51019853: 51019853
32 CHKB NM_005198.4(CHKB): c.577G> A (p.Glu193Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 50581424: 50581424
33 CHKB NM_005198.4(CHKB): c.315G> A (p.Leu105=) single nucleotide variant Likely benign rs369633837 GRCh37 Chromosome 22, 51020696: 51020696
34 CHKB NM_005198.4(CHKB): c.315G> A (p.Leu105=) single nucleotide variant Likely benign rs369633837 GRCh38 Chromosome 22, 50582267: 50582267
35 CHKB NM_005198.4(CHKB): c.902C> T (p.Thr301Ile) single nucleotide variant Uncertain significance rs147485527 GRCh38 Chromosome 22, 50579999: 50579999
36 CHKB NM_005198.4(CHKB): c.902C> T (p.Thr301Ile) single nucleotide variant Uncertain significance rs147485527 GRCh37 Chromosome 22, 51018428: 51018428
37 CHKB NM_005198.4(CHKB): c.466C> G (p.Gln156Glu) single nucleotide variant Uncertain significance rs764016359 GRCh38 Chromosome 22, 50581535: 50581535
38 CHKB NM_005198.4(CHKB): c.466C> G (p.Gln156Glu) single nucleotide variant Uncertain significance rs764016359 GRCh37 Chromosome 22, 51019964: 51019964
39 CHKB NM_005198.4(CHKB): c.400C> T (p.Gln134Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 51020225: 51020225
40 CHKB NM_005198.4(CHKB): c.400C> T (p.Gln134Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 50581796: 50581796
41 CHKB NM_005198.4(CHKB): c.17C> T (p.Thr6Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 50582765: 50582765
42 CHKB NM_005198.4(CHKB): c.17C> T (p.Thr6Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 51021194: 51021194
43 CHKB NM_005198.4(CHKB): c.1032-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 51017938: 51017938
44 CHKB NM_005198.4(CHKB): c.1032-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 50579509: 50579509

Expression for Muscular Dystrophy, Congenital, Megaconial Type

Search GEO for disease gene expression data for Muscular Dystrophy, Congenital, Megaconial Type.

Pathways for Muscular Dystrophy, Congenital, Megaconial Type

Pathways related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.29 PINK1 PRKN
2 11.13 PINK1 PRKN
3
Show member pathways
10.98 CHKB CPT1B
4
Show member pathways
10.82 PINK1 PRKN
5 10.4 CHKA CHKB
6 9.4 CHKA CPT1B

GO Terms for Muscular Dystrophy, Congenital, Megaconial Type

Cellular components related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Lewy body GO:0097413 8.62 PINK1 PRKN

Biological processes related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.88 CHKA CHKB CHKB-CPT1B PINK1
2 phospholipid biosynthetic process GO:0008654 9.61 CHKA CHKB
3 negative regulation of neuron death GO:1901215 9.6 PINK1 PRKN
4 autophagy of mitochondrion GO:0000422 9.59 PINK1 PRKN
5 phosphatidylcholine biosynthetic process GO:0006656 9.58 CHKA CHKB
6 regulation of mitochondrial membrane potential GO:0051881 9.57 PINK1 PRKN
7 negative regulation of JNK cascade GO:0046329 9.56 PINK1 PRKN
8 regulation of reactive oxygen species metabolic process GO:2000377 9.55 PINK1 PRKN
9 negative regulation of reactive oxygen species metabolic process GO:2000378 9.54 PINK1 PRKN
10 regulation of protein ubiquitination GO:0031396 9.52 PINK1 PRKN
11 regulation of mitochondrion organization GO:0010821 9.51 PINK1 PRKN
12 phosphatidylethanolamine biosynthetic process GO:0006646 9.49 CHKA CHKB
13 positive regulation of mitochondrial fission GO:0090141 9.48 PINK1 PRKN
14 glycerophospholipid biosynthetic process GO:0046474 9.46 CHKB CHKB-CPT1B
15 regulation of protein targeting to mitochondrion GO:1903214 9.43 PINK1 PRKN
16 cellular response to toxic substance GO:0097237 9.4 PINK1 PRKN
17 CDP-choline pathway GO:0006657 9.37 CHKA CHKB
18 negative regulation of oxidative stress-induced cell death GO:1903202 9.32 PINK1 PRKN
19 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.26 PINK1 PRKN
20 regulation of synaptic vesicle transport GO:1902803 9.16 PINK1 PRKN
21 mitochondrion to lysosome transport GO:0099074 8.96 PINK1 PRKN
22 regulation of cellular response to oxidative stress GO:1900407 8.62 PINK1 PRKN

Molecular functions related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.55 CHKA CHKB CPT1B PINK1 PRKN
2 ethanolamine kinase activity GO:0004305 8.96 CHKA CHKB
3 choline kinase activity GO:0004103 8.62 CHKA CHKB

Sources for Muscular Dystrophy, Congenital, Megaconial Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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