MCID: MSC028
MIFTS: 23

Muscular Dystrophy, Congenital, Megaconial Type malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle diseases categories

Aliases & Classifications for Muscular Dystrophy, Congenital, Megaconial Type

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 22GeneTests, 24GTR, 28ICD10 via Orphanet
See all sources

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

Name: Muscular Dystrophy, Congenital, Megaconial Type 49 11 45
Megaconial Congénital Muscular Dystrophy 45 22 51 24
Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect 45 51
 
Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities 22 51
Congenital Megaconial Myopathy 51
Mdcmc 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
megaconial congénital muscular dystrophy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 602541
Orphanet51 280671
ICD10 via Orphanet28 G71.2

Summaries for Muscular Dystrophy, Congenital, Megaconial Type

About this section
OMIM:49 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 megaconial congénital muscular dystrophy, is related to muscular dystrophy and myopathy, and has symptoms including dilated cardiomyopathy, autosomal recessive inheritance and microcephaly. An important gene associated with Muscular Dystrophy, Congenital, Megaconial Type is CHKB (Choline Kinase Beta).

Related Diseases for Muscular Dystrophy, Congenital, Megaconial Type

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy10.6
2myopathy10.3

Symptoms for Muscular Dystrophy, Congenital, Megaconial Type

About this section

Symptoms by clinical synopsis from OMIM:

602541

Clinical features from OMIM:

602541

HPO human phenotypes related to Muscular Dystrophy, Congenital, Megaconial Type:

(show all 19)
id Description Frequency HPO Source Accession
1 dilated cardiomyopathy typical (50%) HP:0001644
2 autosomal recessive inheritance HP:0000007
3 microcephaly HP:0000252
4 delayed speech and language development HP:0000750
5 intellectual disability HP:0001249
6 seizures HP:0001250
7 motor delay HP:0001270
8 neonatal hypotonia HP:0001319
9 mitochondrial inheritance HP:0001427
10 poor speech HP:0002465
11 waddling gait HP:0002515
12 myopathy HP:0003198
13 elevated serum creatine phosphokinase HP:0003236
14 gowers sign HP:0003391
15 congenital onset HP:0003577
16 slow progression HP:0003677
17 congenital muscular dystrophy HP:0003741
18 ichthyosis HP:0008064
19 facial palsy HP:0010628

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 Congenital Muscular Dystrophy, Megaconial Type22 CHKB
2 Muscular Dystrophy, Congenital, Megaconial Type24

Anatomical Context for Muscular Dystrophy, Congenital, Megaconial Type

About this section

Animal Models for Muscular Dystrophy, Congenital, Megaconial Type or affiliated genes

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
1NM_005198.4(CHKB): c.810T> A (p.Tyr270Ter)single nucleotide variantPathogenicrs750764003GRCh37Chr 22, 51018627: 51018627
2NM_005198.4(CHKB): c.116C> A (p.Ser39Ter)single nucleotide variantPathogenicrs387907068GRCh37Chr 22, 51021095: 51021095
3NM_005198.4(CHKB): c.458dupT (p.Leu153Phefs)duplicationPathogenicrs786205117GRCh37Chr 22, 51019972: 51019972
4NM_005198.4(CHKB): c.922C> T (p.Gln308Ter)single nucleotide variantPathogenicrs387907069GRCh37Chr 22, 51018408: 51018408
5NM_005198.4(CHKB): c.677+1G> Asingle nucleotide variantPathogenicrs786205118GRCh37Chr 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

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

About this section

Sources for Muscular Dystrophy, Congenital, Megaconial Type

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet