MCID: MSC028
MIFTS: 22

Muscular Dystrophy, Congenital, Megaconial Type malady

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

Summaries for Muscular Dystrophy, Congenital, Megaconial Type

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48OMIM, 34MalaCards
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MalaCards: 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. An important gene associated with Muscular Dystrophy, Congenital, Megaconial Type is CHKB (choline kinase beta).

Description from OMIM:48 602541

Aliases & Classifications for Muscular Dystrophy, Congenital, Megaconial Type

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44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

50
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 44 21 23 48
congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect 50
congenital muscular dystrophy with mitochondrial structural abnormalities 50
megaconial congƩnital muscular dystrophy 50
congenital megaconial myopathy 50


External Ids:

OMIM48 602541
ICD10 via Orphanet27 G71.2

Related Diseases for Muscular Dystrophy, Congenital, Megaconial Type

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18GeneCards, 19GeneDecks
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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

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48OMIM
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Symptoms by clinical synopsis from OMIM:

602541

Clinical features from OMIM:

602541

Drugs & Therapeutics for Muscular Dystrophy, Congenital, Megaconial Type

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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21GeneTests, 23GTR
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Genetic tests related to Muscular Dystrophy, Congenital, Megaconial Type:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy, Megaconial Type21 CHKB
2 Muscular Dystrophy, Congenital, Megaconial Type23

Anatomical Context for Muscular Dystrophy, Congenital, Megaconial Type

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

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Publications for Muscular Dystrophy, Congenital, Megaconial Type

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Variations for Muscular Dystrophy, Congenital, Megaconial Type

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Muscular Dystrophy, Congenital, Megaconial Type:

1
id Gene Name Type Significance SNP ID Assembly Location
1CHKBCHKB, TYR270TERsingle nucleotide variantPathogenic/card/muscular_dystrophy_congenital_megaconial_type
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

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Dystrophy, Congenital, Megaconial Type

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet