MCID: MSC028
MIFTS: 18

Muscular Dystrophy, Congenital, Megaconial Type malady

Genetic diseases, Rare diseases, Muscle diseases categories

Summaries for Muscular Dystrophy, Congenital, Megaconial Type

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OMIM:45 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 congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect, 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).

Aliases & Classifications for Muscular Dystrophy, Congenital, Megaconial Type

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

Name: Muscular Dystrophy, Congenital, Megaconial Type 45 10 41 20
 
Megaconial Congénital Muscular Dystrophy 22


Classifications:

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


External Ids:

OMIM45 602541

Related Diseases for Muscular Dystrophy, Congenital, Megaconial Type

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

idRelated DiseaseScoreTop Affiliating Genes
1congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect10.5

Symptoms for Muscular Dystrophy, Congenital, Megaconial Type

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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

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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

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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

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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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Clinvar genetic disease variations for Muscular Dystrophy, Congenital, Megaconial Type:

6
id Gene Variation 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

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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
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  • Proteins
  • Kits and Assays

Sources for Muscular Dystrophy, Congenital, Megaconial Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet