MDCMC
MCID: MSC028
MIFTS: 36

Muscular Dystrophy, Congenital, Megaconial Type (MDCMC) malady

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

Aliases & Classifications for Muscular Dystrophy, Congenital, Megaconial Type

Aliases & Descriptions for Muscular Dystrophy, Congenital, Megaconial Type:

Name: Muscular Dystrophy, Congenital, Megaconial Type 54 50 13 69
Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities 12 50 24 56
Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect 12 50 56
Megaconial Congenital Muscular Dystrophy 12 50 56
Congenital Megaconial Myopathy 12 50 56
Congenital Muscular Dystrophy, Megaconial Type 24 29
Megaconial Type Congenital Muscular Dystrophy 12 14
Megaconial Congénital Muscular Dystrophy 50
Mdcmc 24

Characteristics:

Orphanet epidemiological data:

56
congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

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


Classifications:



External Ids:

OMIM 54 602541
Disease Ontology 12 DOID:0110632
ICD10 33 G71.2
Orphanet 56 ORPHA280671
ICD10 via Orphanet 34 G71.2

Summaries for Muscular Dystrophy, Congenital, Megaconial Type

OMIM : 54 This form of autosomal recessive congenital muscular dystrophy is characterized by early-onset muscle wasting and... (602541) more...

MalaCards based summary : Muscular Dystrophy, Congenital, Megaconial Type, also known as congenital muscular dystrophy with mitochondrial structural abnormalities, is related to muscular dystrophy and muscular dystrophy, limb-girdle, type 1b, 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 phenotype is 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.

Related Diseases for Muscular Dystrophy, Congenital, Megaconial Type

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 by clinical synopsis from OMIM:

602541

Clinical features from OMIM:

602541

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

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 waddling gait 32 HP:0002515
3 intellectual disability 32 HP:0001249
4 facial palsy 32 HP:0010628
5 delayed speech and language development 32 HP:0000750
6 microcephaly 32 HP:0000252
7 neonatal hypotonia 32 HP:0001319
8 ichthyosis 32 HP:0008064
9 myopathy 32 HP:0003198
10 elevated serum creatine phosphokinase 32 HP:0003236
11 motor delay 32 HP:0001270
12 congenital muscular dystrophy 32 HP:0003741
13 dilated cardiomyopathy 32 HP:0001644
14 poor speech 32 HP:0002465
15 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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.77 PINK1
2 Decreased viability GR00221-A-1 9.77 PINK1 CHKB
3 Decreased viability GR00221-A-2 9.77 PINK1 CHKA CHKB
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:

id Genetic test Affiliating Genes
1 Muscular Dystrophy, Congenital, Megaconial Type 29
2 Congenital Muscular Dystrophy, Megaconial Type 24 CHKB

Anatomical Context for Muscular Dystrophy, Congenital, Megaconial Type

Publications for Muscular Dystrophy, Congenital, Megaconial Type

Variations for Muscular Dystrophy, Congenital, Megaconial Type

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

6
id 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

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:

id 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:

id 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)
id 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 9.61 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 phosphatidylcholine biosynthetic process GO:0006656 9.58 CHKA CHKB
8 regulation of mitochondrial membrane potential GO:0051881 9.57 PINK1 PRKN
9 mitophagy GO:0000422 9.56 PINK1 PRKN
10 negative regulation of JNK cascade GO:0046329 9.55 PINK1 PRKN
11 negative regulation of reactive oxygen species metabolic process GO:2000378 9.54 PINK1 PRKN
12 regulation of reactive oxygen species metabolic process GO:2000377 9.52 PINK1 PRKN
13 regulation of protein ubiquitination GO:0031396 9.51 PINK1 PRKN
14 positive regulation of mitochondrial fission GO:0090141 9.49 PINK1 PRKN
15 phosphatidylethanolamine biosynthetic process GO:0006646 9.48 CHKA CHKB
16 regulation of mitochondrion organization GO:0010821 9.46 PINK1 PRKN
17 mitophagy in response to mitochondrial depolarization GO:0098779 9.43 PINK1 PRKN
18 cellular response to toxic substance GO:0097237 9.4 PINK1 PRKN
19 regulation of protein targeting to mitochondrion GO:1903214 9.37 PINK1 PRKN
20 CDP-choline pathway GO:0006657 9.32 CHKA CHKB
21 regulation of synaptic vesicle transport GO:1902803 9.26 PINK1 PRKN
22 regulation of cellular response to oxidative stress GO:1900407 9.16 PINK1 PRKN
23 negative regulation of oxidative stress-induced cell death GO:1903202 8.96 PINK1 PRKN
24 mitochondrion to lysosome transport GO:0099074 8.62 PINK1 PRKN

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....