MCID: MSC028
MIFTS: 22

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 49 11 45 65
Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities 45 22 51
Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect 45 51
Congenital Muscular Dystrophy, Megaconial Type 22 24
 
Megaconial Congenital Muscular Dystrophy 45 51
Congenital Megaconial Myopathy 45 51
Megaconial Congénital Muscular Dystrophy 45
Mdcmc 22

Characteristics:

Orphanet epidemiological data:

51
congenital muscular dystrophy with mitochondrial structural abnormalities:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
muscular dystrophy, congenital, megaconial type:
Onset and clinical course: slow progression, congenital onset
Inheritance: mitochondrial inheritance, autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 602541
Orphanet51 280671
ICD10 via Orphanet28 G71.2
UMLS65 C1865233

Summaries for Muscular Dystrophy, Congenital, Megaconial Type

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OMIM:49 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 sarcoma and endometrial stromal sarcoma, and has symptoms including dilated cardiomyopathy, facial palsy and ichthyosis. 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
1sarcoma10.3
2endometrial stromal sarcoma10.3

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 facial palsy HP:0010628
3 ichthyosis HP:0008064
4 congenital muscular dystrophy HP:0003741
5 gowers sign HP:0003391
6 elevated serum creatine phosphokinase HP:0003236
7 myopathy HP:0003198
8 waddling gait HP:0002515
9 poor speech HP:0002465
10 neonatal hypotonia HP:0001319
11 motor delay HP:0001270
12 seizures HP:0001250
13 intellectual disability HP:0001249
14 delayed speech and language development HP:0000750
15 microcephaly HP:0000252

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 Congenital Muscular Dystrophy, Megaconial Type22 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet