MCID: MSC028
MIFTS: 15

Muscular Dystrophy, Congenital, Megaconial Type malady

Neuronal, Metabolic, Muscle categories

Summaries for Muscular Dystrophy, Congenital, Megaconial Type

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Muscular Dystrophy, Congenital, Megaconial Type, also known as congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect, is related to myopathy congenital. An important gene associated with Muscular Dystrophy, Congenital, Megaconial Type is CHKB (choline kinase beta).

Description from OMIM:47 602541

Aliases & Classifications for Muscular Dystrophy, Congenital, Megaconial Type

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Metabolic, Muscle


Characteristics (Orphanet epidemiological data):

49
congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

muscular dystrophy, congenital, megaconial type 43 20 22 47
congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect 49
congenital muscular dystrophy with mitochondrial structural abnormalities 49
megaconial congénital muscular dystrophy 49
congenital megaconial myopathy 49


External Ids:

OMIM47 602541
ICD10 via Orphanet26 G71.2

Related Diseases for Muscular Dystrophy, Congenital, Megaconial Type

Sources:
17GeneCards, 18GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1myopathy congenital10.3

Clinical Features for Muscular Dystrophy, Congenital, Megaconial Type

Sources:
47OMIM
See all sources

Clinical features from OMIM:

602541

Clinical synopsis from OMIM:

602541

Drugs & Therapeutics for Muscular Dystrophy, Congenital, Megaconial Type

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Muscular Dystrophy, Congenital, Megaconial Type

Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy, Congenital, Megaconial Type

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

Search CenterWatch for Muscular Dystrophy, Congenital, Megaconial Type

Genetic Tests for Muscular Dystrophy, Congenital, Megaconial Type

Sources:
20GeneTests, 22GTR
See all sources

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

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

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Muscular Dystrophy, Congenital, Megaconial Type

Genetic Variations for Muscular Dystrophy, Congenital, Megaconial Type

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Dystrophy, Congenital, Megaconial Type

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet