MCID: MSC028
MIFTS: 23

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

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

Name: Muscular Dystrophy, Congenital, Megaconial Type 50 46 12 66
Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities 46 23 52
Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect 46 52
Congenital Muscular Dystrophy, Megaconial Type 23 25
 
Megaconial Congenital Muscular Dystrophy 46 52
Congenital Megaconial Myopathy 46 52
Megaconial Congénital Muscular Dystrophy 46
Mdcmc 23

Characteristics:

Orphanet epidemiological data:

52
congenital muscular dystrophy with mitochondrial structural abnormalities:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
muscular dystrophy, congenital, megaconial type:
Inheritance: autosomal recessive inheritance, mitochondrial inheritance
Onset and clinical course: congenital onset, slow progression


Classifications:



External Ids:

OMIM50 602541
Orphanet52 ORPHA280671
ICD10 via Orphanet29 G71.2

Summaries for Muscular Dystrophy, Congenital, Megaconial Type

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OMIM:50 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

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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
1muscular dystrophy10.2
2myopathy10.1

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 15)
id Description Frequency HPO Source Accession
1 dilated cardiomyopathy typical (50%) HP:0001644
2 microcephaly HP:0000252
3 delayed speech and language development HP:0000750
4 intellectual disability HP:0001249
5 seizures HP:0001250
6 motor delay HP:0001270
7 neonatal hypotonia HP:0001319
8 poor speech HP:0002465
9 waddling gait HP:0002515
10 myopathy HP:0003198
11 elevated serum creatine phosphokinase HP:0003236
12 gowers sign HP:0003391
13 congenital muscular dystrophy HP:0003741
14 ichthyosis HP:0008064
15 facial palsy 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

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Interventional clinical trials:

Search ClinicalTrials, 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 Muscular Dystrophy, Congenital, Megaconial Type25
2 Congenital Muscular Dystrophy, Megaconial Type23 CHKB

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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_005198.4(CHKB): c.810T> A (p.Tyr270Ter)single nucleotide variantPathogenicrs750764003GRCh37Chr 22, 51018627: 51018627
2NM_005198.4(CHKB): c.116C> A (p.Ser39Ter)single nucleotide variantPathogenicrs387907068GRCh37Chr 22, 51021095: 51021095
3NM_005198.4(CHKB): c.458dupT (p.Leu153Phefs)duplicationPathogenicrs786205117GRCh37Chr 22, 51019972: 51019972
4NM_005198.4(CHKB): c.922C> T (p.Gln308Ter)single nucleotide variantPathogenicrs387907069GRCh37Chr 22, 51018408: 51018408
5NM_005198.4(CHKB): c.677+1G> Asingle nucleotide variantPathogenicrs786205118GRCh37Chr 22, 51018993: 51018993

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

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Sources for Muscular Dystrophy, Congenital, Megaconial Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet