MCID: MSC028
MIFTS: 40

Muscular Dystrophy, Congenital, Megaconial Type

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

Aliases & Classifications for Muscular Dystrophy, Congenital, Megaconial Type

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

Name: Muscular Dystrophy, Congenital, Megaconial Type 53 49 28 13 69
Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect 12 49 55
Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities 12 49 55
Megaconial Congenital Muscular Dystrophy 12 49 55
Congenital Megaconial Myopathy 12 49 55
Megaconial Type Congenital Muscular Dystrophy 12 14
Muscular Dystrophy, Congenital, with Mitochondrial Structural Abnormalities 53
Megaconial Congénital Muscular Dystrophy 49
Mdcmc 53

Characteristics:

Orphanet epidemiological data:

55
megaconial congenital muscular dystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
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 : 53 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 muscular dystrophy, congenital, lmna-related and muscular dystrophy, and has symptoms including seizures, waddling gait and intellectual disability. 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 Decreased viability and Decreased viability

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.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Congenital muscular dystrophy.

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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, lmna-related 10.1
2 muscular dystrophy 10.1
3 myopathy 10.0
4 hypersomnia 9.9 CHKB PRKN
5 parkinson disease 10 9.9 PINK1 PRKN
6 parkinson disease 2, autosomal recessive juvenile 9.9 PINK1 PRKN
7 early-onset parkinson disease 9.9 PINK1 PRKN
8 parkinson disease 15, autosomal recessive early-onset 9.8 PINK1 PRKN
9 movement disease 9.8 PINK1 PRKN
10 synucleinopathy 9.7 PINK1 PRKN
11 nervous system disease 9.7 PINK1 PRKN
12 central nervous system disease 9.5 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:

53
MuscleSoftTissue:
muscle weakness
muscular dystrophy
gowers sign
hypotonia, neonatal
variation in fiber size
more
HeadAndNeckHead:
microcephaly

HeadAndNeckFace:
facial muscle weakness

CardiovascularHeart:
dilated cardiomyopathy (occurs in about 50%)

NeurologicCentralNervousSystem:
waddling gait
delayed motor development
mental retardation
poor speech development
some patients never achieve independent ambulation
more
SkinNailsHairSkin:
ichthyosis

LaboratoryAbnormalities:
increased serum creatine kinase


Clinical features from OMIM:

602541

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

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 waddling gait 31 HP:0002515
3 intellectual disability 31 HP:0001249
4 facial palsy 31 HP:0010628
5 delayed speech and language development 31 HP:0000750
6 microcephaly 31 HP:0000252
7 neonatal hypotonia 31 HP:0001319
8 ichthyosis 31 HP:0008064
9 myopathy 31 HP:0003198
10 elevated serum creatine phosphokinase 31 HP:0003236
11 motor delay 31 HP:0001270
12 congenital muscular dystrophy 31 HP:0003741
13 dilated cardiomyopathy 31 very rare (1%) HP:0001644
14 poor speech 31 HP:0002465
15 gowers sign 31 HP:0003391

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


facial paresis, waddling gait, muscle weakness

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.77 PINK1
2 Decreased viability GR00221-A-1 9.77 CHKB PINK1
3 Decreased viability GR00221-A-2 9.77 CHKB PINK1 CHKA
4 Decreased viability GR00221-A-3 9.77 CHKB PINK1
5 Decreased viability GR00221-A-4 9.77 PINK1 CHKA CHKB
6 Decreased viability GR00301-A 9.77 CHKB PINK1
7 Decreased viability GR00342-S-2 9.77 CHKA
8 Decreased cella89culturea89derived Hepatitis C virus (HCVcc GR00234-A-2 9.16 CHKA CHKB
9 Decreased Hepatitis C Virus pseudoparticles (HCVpp GR00234-A-1 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 28 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
# 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.116C> A (p.Ser39Ter) single nucleotide variant Pathogenic rs387907068 GRCh37 Chromosome 22, 51021095: 51021095
3 CHKB NM_005198.4(CHKB): c.458dupT (p.Leu153Phefs) duplication Pathogenic rs786205117 GRCh37 Chromosome 22, 51019972: 51019972
4 CHKB NM_005198.4(CHKB): c.922C> T (p.Gln308Ter) single nucleotide variant Pathogenic rs387907069 GRCh37 Chromosome 22, 51018408: 51018408
5 CHKB NM_005198.4(CHKB): c.677+1G> A single nucleotide variant Pathogenic rs786205118 GRCh37 Chromosome 22, 51018993: 51018993
6 CHKB NM_005198.4(CHKB): c.400C> T (p.Gln134Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 51020225: 51020225

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 11.18 PINK1 PRKN
2 10.97 PINK1 PRKN
3
Show member pathways
10.62 PINK1 PRKN
4 10.07 CHKA CHKB

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 ubiquitin ligase complex GO:0000151 8.96 PINK1 PRKN
2 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 24)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.79 CHKA CHKB PINK1
2 negative regulation of neuron apoptotic process GO:0043524 9.62 PINK1 PRKN
3 response to oxidative stress GO:0006979 9.61 PINK1 PRKN
4 macroautophagy GO:0016236 9.6 PINK1 PRKN
5 mitochondrion organization GO:0007005 9.59 PINK1 PRKN
6 phospholipid biosynthetic process GO:0008654 9.58 CHKA CHKB
7 autophagy of mitochondrion GO:0000422 9.58 PINK1 PRKN
8 phosphatidylcholine biosynthetic process GO:0006656 9.57 CHKA CHKB
9 regulation of mitochondrial membrane potential GO:0051881 9.56 PINK1 PRKN
10 negative regulation of JNK cascade GO:0046329 9.55 PINK1 PRKN
11 regulation of reactive oxygen species metabolic process GO:2000377 9.54 PINK1 PRKN
12 negative regulation of reactive oxygen species metabolic process GO:2000378 9.52 PINK1 PRKN
13 regulation of protein ubiquitination GO:0031396 9.51 PINK1 PRKN
14 phosphatidylethanolamine biosynthetic process GO:0006646 9.49 CHKA CHKB
15 positive regulation of mitochondrial fission GO:0090141 9.48 PINK1 PRKN
16 regulation of mitochondrion organization GO:0010821 9.46 PINK1 PRKN
17 cellular response to toxic substance GO:0097237 9.43 PINK1 PRKN
18 regulation of protein targeting to mitochondrion GO:1903214 9.4 PINK1 PRKN
19 CDP-choline pathway GO:0006657 9.37 CHKA CHKB
20 negative regulation of oxidative stress-induced cell death GO:1903202 9.32 PINK1 PRKN
21 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.26 PINK1 PRKN
22 regulation of synaptic vesicle transport GO:1902803 9.16 PINK1 PRKN
23 mitochondrion to lysosome transport GO:0099074 8.96 PINK1 PRKN
24 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 9.46 CHKA CHKB PINK1 PRKN
2 kinase activity GO:0016301 9.43 CHKA CHKB PINK1
3 ethanolamine kinase activity GO:0004305 8.96 CHKA CHKB
4 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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