MCID: MSC028
MIFTS: 22

Muscular Dystrophy, Congenital, Megaconial Type 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 48 24 54
Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect 48 54
Congenital Muscular Dystrophy, Megaconial Type 24 27
 
Megaconial Congenital Muscular Dystrophy 48 54
Congenital Megaconial Myopathy 48 54
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
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 myopathy, and has symptoms including dilated cardiomyopathy, microcephaly and delayed speech and language development. 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 dystrophy10.1
2myopathy10.0

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 dilated cardiomyopathy64 typical (50%) HP:0001644
2 microcephaly64 HP:0000252
3 delayed speech and language development64 HP:0000750
4 intellectual disability64 HP:0001249
5 seizures64 HP:0001250
6 motor delay64 HP:0001270
7 neonatal hypotonia64 HP:0001319
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

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

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
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