MCID: MSC028
MIFTS: 22

Muscular Dystrophy, Congenital, Megaconial Type malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle diseases categories
Download this MalaCard

Summaries for Muscular Dystrophy, Congenital, Megaconial Type

About this section


Fully expand this MalaCard
MalaCards based summary: Muscular Dystrophy, Congenital, Megaconial Type, also known as congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect, is related to congenital muscular dystrophy and muscular dystrophy, and has symptoms including An important gene associated with Muscular Dystrophy, Congenital, Megaconial Type is CHKB (choline kinase beta).

Description from OMIM:46 602541

Aliases & Classifications for Muscular Dystrophy, Congenital, Megaconial Type

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

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

Name: Muscular Dystrophy, Congenital, Megaconial Type 42 20 22 46
Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect 48
Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities 48
 
Megaconial Congénital Muscular Dystrophy 48
Congenital Megaconial Myopathy 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 602541
ICD10 via Orphanet26 G71.2

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/GeneDecks gene sharing:

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

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 muscular dystrophy HP:0003560
16 congenital onset HP:0003577
17 slow progression HP:0003677
18 ichthyosis HP:0008064
19 facial palsy HP:0010628

Drugs & Therapeutics for Muscular Dystrophy, Congenital, Megaconial Type

About this section

Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy, Congenital, Megaconial Type

Search 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 Type20 CHKB
2 Muscular Dystrophy, Congenital, Megaconial Type22

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:

6
id Gene Name Type Significance SNP ID Assembly Location
1CHKBCHKB, TYR270TERsingle nucleotide variantPathogenic
2NM_005198.4(CHKB): c.116C> A (p.Ser39Ter)single nucleotide variantPathogenicrs387907068GRCh37Chr 22, 51021095: 51021095
3CHKBCHKB, 1-BP DUP, NT458duplicationPathogenic
4NM_005198.4(CHKB): c.922C> T (p.Gln308Ter)single nucleotide variantPathogenicrs387907069GRCh37Chr 22, 51018408: 51018408
5CHKBCHKB, IVS5DS, G-A, +1single nucleotide variantPathogenic

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

About this section
Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy, Congenital, Megaconial Type

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

Compounds 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

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Muscular Dystrophy, Congenital, Megaconial Type

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet