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 51 47 12 67
Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities 47 24 53
Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect 47 53
Congenital Muscular Dystrophy, Megaconial Type 24 26
 
Megaconial Congenital Muscular Dystrophy 47 53
Congenital Megaconial Myopathy 47 53
Megaconial Congénital Muscular Dystrophy 47
Mdcmc 24

Characteristics:

Orphanet epidemiological data:

53
congenital muscular dystrophy with mitochondrial structural abnormalities:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
muscular dystrophy, congenital, megaconial type:
Inheritance: autosomal recessive inheritance, mitochondrial inheritance
Onset and clinical course: congenital onset, slow progression

Classifications:



External Ids:

OMIM51 602541
Orphanet53 ORPHA280671
ICD10 via Orphanet30 G71.2

Summaries for Muscular Dystrophy, Congenital, Megaconial Type

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OMIM:51 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 dystrophy10.1
2myopathy10.0

Symptoms for Muscular Dystrophy, Congenital, Megaconial Type

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Symptoms by clinical synopsis from OMIM:

602541

Clinical features from OMIM:

602541

Human phenotypes related to Muscular Dystrophy, Congenital, Megaconial Type:

 63 (show all 15)
id Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy63 typical (50%) HP:0001644
2 microcephaly63 HP:0000252
3 delayed speech and language development63 HP:0000750
4 intellectual disability63 HP:0001249
5 seizures63 HP:0001250
6 motor delay63 HP:0001270
7 neonatal hypotonia63 HP:0001319
8 poor speech63 HP:0002465
9 waddling gait63 HP:0002515
10 myopathy63 HP:0003198
11 elevated serum creatine phosphokinase63 HP:0003236
12 gowers sign63 HP:0003391
13 congenital muscular dystrophy63 HP:0003741
14 ichthyosis63 HP:0008064
15 facial palsy63 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 Type26
2 Congenital Muscular Dystrophy, Megaconial Type24 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
1CHKBNM_005198.4(CHKB): c.810T> A (p.Tyr270Ter)SNVPathogenicrs750764003GRCh37Chr 22, 51018627: 51018627
2CHKBNM_005198.4(CHKB): c.116C> A (p.Ser39Ter)SNVPathogenicrs387907068GRCh37Chr 22, 51021095: 51021095
3CHKBNM_005198.4(CHKB): c.458dupT (p.Leu153Phefs)duplicationPathogenicrs786205117GRCh37Chr 22, 51019972: 51019972
4CHKBNM_005198.4(CHKB): c.922C> T (p.Gln308Ter)SNVPathogenicrs387907069GRCh37Chr 22, 51018408: 51018408
5CHKBNM_005198.4(CHKB): c.677+1G> ASNVPathogenicrs786205118GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet