MCID: MSC124
MIFTS: 35

Muscular Dystrophy, Congenital malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases, Cardiovascular diseases, Metabolic diseases categories

Summaries for Muscular Dystrophy, Congenital

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Disease Ontology:9 A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities.

MalaCards based summary: Muscular Dystrophy, Congenital, also known as congenital muscular dystrophy, is related to muscular dystrophy and myopathy, and has symptoms including autosomal dominant inheritance, neck muscle weakness and motor delay. An important gene associated with Muscular Dystrophy, Congenital is LMNA (lamin A/C), and among its related pathways are DREAM Repression and Dynorphin Expression and Hypertrophic cardiomyopathy (HCM). The compound creatinine have been mentioned in the context of this disorder.

Description from OMIM:45 613205

GeneReviews summary for cmd-overview

Aliases & Classifications for Muscular Dystrophy, Congenital

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Muscular Dystrophy, Congenital, Aliases & Descriptions:

Name: Muscular Dystrophy, Congenital 45 10
Congenital Muscular Dystrophy 9 19 41 20 11 22 60
Muscular Dystrophy, Congenital, Lmna-Related 60
 
Congenital Muscular Dystrophy, Lmna-Related 20
Lmna-Related Congenital Muscular Dystrophy 22
Congenital Md 41


Classifications:



External Ids:

OMIM45 613205
Disease Ontology9 DOID:0050557
ICD9CM27 359.0

Related Diseases for Muscular Dystrophy, Congenital

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Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b muscular dystrophy, congenital
Lama2-Related Muscular Dystrophy Congenital Muscular Dystrophy Type 1a
Muscular Dystrophy - Late Onset Congenital Muscular Dystrophy Due to Lmna Mutation
Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect

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

(show top 50)    (show all 99)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy31.3ITGA7
2myopathy29.9LMNA, ITGA7
3myopathy congenital29.8ITGA7, MDCMP
4cerebritis10.7
5mental retardation10.7
6bethlem myopathy10.6
7muscular dystrophy, congenital, megaconial type10.5
8muscular dystrophy, congenital, due to itga7 deficiency10.5
9neuronitis10.5
10muscular dystrophy, congenital merosin-deficient10.5
11muscular dystrophy, congenital, 1b10.4
12muscular dystrophy, congenital, merosin-positive10.4
13muscular dystrophy-dystroglycanopathy , type a, 410.4
14muscle eye brain disease10.4
15muscular dystrophy-dystroglycanopathy , type a, 110.4
16muscular dystrophy-dystroglycanopathy , type b, 110.4
17microcephaly10.4
18whipple disease10.4
19lissencephaly10.4
20muscular dystrophy, congenital, infantile with cataract and hypogonadism10.4
21congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect10.4
22ullrich congenital muscular dystrophy10.3
23muscular dystrophy-dystroglycanopathy , type b, 510.3
24muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.3
25muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.3
26cataract10.3
27limb-girdle muscular dystrophy10.3
28brain disease10.3
29epidermolysis bullosa10.3
30congenital muscular dystrophy syringomyelia10.3
31congenital muscular dystrophy type 1a10.3
32fukuyama type muscular dystrophy10.3
33congenital muscular dystrophy with hyperlaxity10.3
34congenital muscular dystrophy with cerebellar involvement10.3
35congenital muscular dystrophy with intellectual disability10.3
36congenital muscular dystrophy without intellectual disability10.3
37muscular dystrophy-dystroglycanopathy , type a, 310.2
38muscular dystrophy-dystroglycanopathy , type b, 310.2
39muscular dystrophy-dystroglycanopathy , type b, 1410.2
40muscular dystrophy-dystroglycanopathy , type a, 710.2
41muscular dystrophy-dystroglycanopathy , type a, 1210.2
42muscular dystrophy-dystroglycanopathy , type b, 410.2
43muscular dystrophy-dystroglycanopathy , type c, 110.2
44muscular dystrophy-dystroglycanopathy , type a, 1010.2
45muscular dystrophy-dystroglycanopathy , type a, 210.2
46muscular dystrophy-dystroglycanopathy , type b, 210.2
47muscular dystrophy-dystroglycanopathy , type a, 510.2
48congenital disorder of glycosylation, type ie10.2
49muscular dystrophy-dystroglycanopathy , type a, 610.2
50muscular dystrophy-dystroglycanopathy , type b, 610.2

Graphical network of the top 20 diseases related to Muscular Dystrophy, Congenital:



Diseases related to muscular dystrophy, congenital

Symptoms for Muscular Dystrophy, Congenital

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Symptoms by clinical synopsis from OMIM:

613205

Clinical features from OMIM:

613205

HPO human phenotypes related to Muscular Dystrophy, Congenital:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 neck muscle weakness HP:0000467
3 motor delay HP:0001270
4 flexion contracture HP:0001371
5 failure to thrive HP:0001508
6 decreased fetal movement HP:0001558
7 talipes HP:0001883
8 respiratory insufficiency due to muscle weakness HP:0002747
9 elevated serum creatine phosphokinase HP:0003236
10 spinal rigidity HP:0003306
11 progressive disorder HP:0003676
12 generalized amyotrophy HP:0003700
13 variable expressivity HP:0003828
14 severe muscular hypotonia HP:0006829

Drugs & Therapeutics for Muscular Dystrophy, Congenital

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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy, Congenital

Search NIH Clinical Center for Muscular Dystrophy, Congenital

Genetic Tests for Muscular Dystrophy, Congenital

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Genetic tests related to Muscular Dystrophy, Congenital:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy Multi-Gene Panels20
2 Congenital Muscular Dystrophy20 22 SEPN1
3 Congenital Muscular Dystrophy, Lmna-Related20 22

Anatomical Context for Muscular Dystrophy, Congenital

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Animal Models for Muscular Dystrophy, Congenital or affiliated genes

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Publications for Muscular Dystrophy, Congenital

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Articles related to Muscular Dystrophy, Congenital:

idTitleAuthorsYear
1
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. (14659414)
2004

Variations for Muscular Dystrophy, Congenital

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Congenital:

62
id Symbol AA change Variation ID SNP ID
1LMNAp.Arg50ProVAR_009972rs60695352
2LMNAp.Glu358LysVAR_009985
3LMNAp.Asn39SerVAR_063588
4LMNAp.Arg249TrpVAR_063589
5LMNAp.Leu302ProVAR_063590
6LMNAp.Leu380SerVAR_063591
7LMNAp.Arg453ProVAR_063592
8LMNAp.Arg455ProVAR_063593
9LMNAp.Asn456AspVAR_063594

Clinvar genetic disease variations for Muscular Dystrophy, Congenital:

6
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_005572.3(LMNA): c.428C> T (p.Ser143Phe)single nucleotide variantPathogenicrs58912633GRCh37Chr 1, 156100479: 156100479
2LMNANM_005572.3(LMNA): c.1139T> C (p.Leu380Ser)single nucleotide variantPathogenicrs121912495GRCh37Chr 1, 156105894: 156105894
3LMNANM_005572.3(LMNA): c.745C> T (p.Arg249Trp)single nucleotide variantPathogenicrs121912496GRCh37Chr 1, 156104701: 156104701
4LMNANM_005572.3(LMNA): c.1072G> A (p.Glu358Lys)single nucleotide variantPathogenicrs60458016GRCh37Chr 1, 156105827: 156105827
5LMNALMNA, 3-BP DEL, 94AAGdeletionPathogenic
6LMNANM_005572.3(LMNA): c.1381-2A> Gsingle nucleotide variantLikely pathogenicrs267607600GRCh37Chr 1, 156106710: 156106710

Expression for genes affiliated with Muscular Dystrophy, Congenital

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Search GEO for disease gene expression data for Muscular Dystrophy, Congenital.

Pathways for genes affiliated with Muscular Dystrophy, Congenital

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Pathways related to Muscular Dystrophy, Congenital according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3ITGA7, LMNA
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
9.3ITGA7, LMNA

Compounds for genes affiliated with Muscular Dystrophy, Congenital

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Sources:
43Novoseek
See all sources

Compounds related to Muscular Dystrophy, Congenital according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1creatinine439.3ITGA7, LMNA

GO Terms for genes affiliated with Muscular Dystrophy, Congenital

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Biological processes related to Muscular Dystrophy, Congenital according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.3ITGA7, LMNA

Products for genes affiliated with Muscular Dystrophy, Congenital

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  • Antibodies
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Sources for Muscular Dystrophy, Congenital

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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