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

About this section

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

Name: Muscular Dystrophy, Congenital, Megaconial Type 52 48 12 68
Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities 11 48 24 54
Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect 11 48 54
Megaconial Congenital Muscular Dystrophy 11 48 54
Congenital Megaconial Myopathy 11 48 54
 
Congenital Muscular Dystrophy, Megaconial Type 24 27
Megaconial Type Congenital Muscular Dystrophy 11 13
Megaconial Congénital Muscular Dystrophy 48
Mdcmc 24

Characteristics:

Orphanet epidemiological data:

54
congenital muscular dystrophy with mitochondrial structural abnormalities:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
muscular dystrophy, congenital, megaconial type:
Inheritance: autosomal recessive inheritance, mitochondrial inheritance
Onset and clinical course: congenital onset, slow progression

Classifications:



External Ids:

OMIM52 602541
Disease Ontology11 DOID:0110632
ICD1030 G71.2
Orphanet54 ORPHA280671
ICD10 via Orphanet31 G71.2

Summaries for Muscular Dystrophy, Congenital, Megaconial Type

About this section
OMIM:52 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 muscle weakness, muscle weakness and waddling gait. An important gene associated with Muscular Dystrophy, Congenital, Megaconial Type is CHKB (Choline Kinase Beta), and among its related pathways are Synthesis of PC and Parkinsons Disease Pathway. Related mouse phenotypes are Decreased cella89culturea89derived Hepatitis C virus (HCVcc and Decreased Hepatitis C Virus pseudoparticles (HCVpp.

Disease Ontology:11 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

About this section

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



Diseases related to muscular dystrophy, congenital, megaconial type

Symptoms & Phenotypes for Muscular Dystrophy, Congenital, Megaconial Type

About this section

Symptoms by clinical synopsis from OMIM:

602541

Clinical features from OMIM:

602541

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

 64 (show all 15)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 HP:0000252
2 delayed speech and language development64 HP:0000750
3 intellectual disability64 HP:0001249
4 seizures64 HP:0001250
5 motor delay64 HP:0001270
6 neonatal hypotonia64 HP:0001319
7 dilated cardiomyopathy64 HP:0001644
8 poor speech64 HP:0002465
9 waddling gait64 HP:0002515
10 myopathy64 HP:0003198
11 elevated serum creatine phosphokinase64 HP:0003236
12 gowers sign64 HP:0003391
13 congenital muscular dystrophy64 HP:0003741
14 ichthyosis64 HP:0008064
15 facial palsy64 HP:0010628

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
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00234-A-210.3CHKA, CHKB
2GR00234-A-110.3CHKA, CHKB
3GR00381-A-17.6CHKA, CHKB, PINK1, CHKA, CHKB, PINK1

Drugs & Therapeutics for Muscular Dystrophy, Congenital, Megaconial Type

About this section

Interventional clinical trials:

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

Genetic Tests for Muscular Dystrophy, Congenital, Megaconial Type

About this section

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

id Genetic test Affiliating Genes
1 Muscular Dystrophy, Congenital, Megaconial Type27
2 Congenital Muscular Dystrophy, Megaconial Type24 CHKB

Anatomical Context for Muscular Dystrophy, Congenital, Megaconial Type

About this section

Publications for Muscular Dystrophy, Congenital, Megaconial Type

About this section

Variations for Muscular Dystrophy, Congenital, Megaconial Type

About this section

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1CHKBNM_ 005198.4(CHKB): c.810T> A (p.Tyr270Ter)SNVPathogenicrs750764003GRCh37Chr 22, 51018627: 51018627
2CHKBNM_ 005198.4(CHKB): c.116C> A (p.Ser39Ter)SNVPathogenicrs387907068GRCh37Chr 22, 51021095: 51021095
3CHKBNM_ 005198.4(CHKB): c.458dupT (p.Leu153Phefs)duplicationPathogenicrs786205117GRCh37Chr 22, 51019972: 51019972
4CHKBNM_ 005198.4(CHKB): c.922C> T (p.Gln308Ter)SNVPathogenicrs387907069GRCh37Chr 22, 51018408: 51018408
5CHKBNM_ 005198.4(CHKB): c.677+1G> ASNVPathogenicrs786205118GRCh37Chr 22, 51018993: 51018993

Expression for genes affiliated with Muscular Dystrophy, Congenital, Megaconial Type

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

Pathways for genes affiliated with Muscular Dystrophy, Congenital, Megaconial Type

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.5CHKA, CHKB
29.1PINK1, PRKN
3
Show member pathways
9.1PINK1, PRKN
49.1PINK1, PRKN

GO Terms for genes affiliated with Muscular Dystrophy, Congenital, Megaconial Type

About this section

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

idNameGO IDScoreTop Affiliating Genes
1Lewy bodyGO:00974139.7PINK1, PRKN
2ubiquitin ligase complexGO:00001519.1PINK1, PRKN

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1CDP-choline pathwayGO:000665710.3CHKA, CHKB
2phosphatidylcholine biosynthetic processGO:000665610.2CHKA, CHKB
3phosphatidylethanolamine biosynthetic processGO:000664610.2CHKA, CHKB
4phospholipid biosynthetic processGO:000865410.2CHKA, CHKB
5cellular response to toxic substanceGO:00972379.9PINK1, PRKN
6macroautophagyGO:00162369.9PINK1, PRKN
7mitochondrion organizationGO:00070059.8PINK1, PRKN
8mitochondrion to lysosome transportGO:00990749.8PINK1, PRKN
9mitophagyGO:00004229.8PINK1, PRKN
10mitophagy in response to mitochondrial depolarizationGO:00987799.8PINK1, PRKN
11negative regulation of JNK cascadeGO:00463299.8PINK1, PRKN
12negative regulation of neuron apoptotic processGO:00435249.8PINK1, PRKN
13negative regulation of oxidative stress-induced cell deathGO:19032029.8PINK1, PRKN
14negative regulation of reactive oxygen species metabolic processGO:20003789.8PINK1, PRKN
15positive regulation of mitochondrial fissionGO:00901419.7PINK1, PRKN
16regulation of cellular response to oxidative stressGO:19004079.7PINK1, PRKN
17regulation of mitochondrial membrane potentialGO:00518819.7PINK1, PRKN
18regulation of mitochondrion organizationGO:00108219.7PINK1, PRKN
19regulation of protein targeting to mitochondrionGO:19032149.7PINK1, PRKN
20regulation of protein ubiquitinationGO:00313969.7PINK1, PRKN
21regulation of reactive oxygen species metabolic processGO:20003779.7PINK1, PRKN
22regulation of synaptic vesicle transportGO:19028039.7PINK1, PRKN
23phosphorylationGO:00163109.6CHKA, CHKB, PINK1
24response to oxidative stressGO:00069799.1PINK1, PRKN

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

idNameGO IDScoreTop Affiliating Genes
1choline kinase activityGO:000410310.3CHKA, CHKB
2ethanolamine kinase activityGO:000430510.3CHKA, CHKB
3kinase activityGO:00163019.8CHKA, CHKB, PINK1
4transferase activityGO:00167408.2CHKA, CHKB, PINK1, PRKN

Sources for Muscular Dystrophy, Congenital, Megaconial Type

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet