CMD
MCID: CNG030
MIFTS: 59

Congenital Muscular Dystrophy (CMD) malady

Neuronal category

Summaries for Congenital Muscular Dystrophy

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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Disease Ontology:8 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: Congenital Muscular Dystrophy, also known as muscular dystrophy, congenital, is related to fukuyama type muscular dystrophy and ullrich congenital muscular dystrophy, and has symptoms including anomalies of the neck, muscle weakness/flaccidity and abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase. An important gene associated with Congenital Muscular Dystrophy is LMNA (lamin A/C), and among its related pathways are NCAM signaling for neurite out-growth and Protein digestion and absorption. The compounds mannose and creatinine have been mentioned in the context of this disorder. Related mouse phenotypes are other and skeleton.

Wikipedia:64 Congenital muscular dystrophy (CMD) is muscular dystrophy that is present at birth. CMD includes a... more...

Description from OMIM:47 607855, 608840, 613204, 606612, 613205 602771 more

GeneReviews summary for cmd-overview

Aliases & Classifications for Congenital Muscular Dystrophy

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 10DISEASES, 49Orphanet, 61UMLS, 9diseasecard, 20GeneTests, 22GTR, 47OMIM, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
congenital muscular dystrophy due to lmna mutation:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
congenital muscular dystrophy:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

congenital muscular dystrophy 8 19 43 10 49 61
muscular dystrophy, congenital 9 20 22 47
congenital muscular dystrophy due to lmna mutation 49
craniometaphyseal dysplasia, autosomal dominant 61
lmna-related congenital muscular dystrophy 49
congenital md 43
cfeom 19
l-cmd 49
cmd 49
mdc 49


External Ids:

Disease Ontology8 DOID:0050557
ICD10 via Orphanet26 G71.2
SNOMED-CT via Orphanet58 240059009
UMLS via Orphanet62 C0699743

Related Diseases for Congenital Muscular Dystrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Congenital Muscular Dystrophy family:

muscular dystrophy congenital muscular dystrophy type 1a
muscular dystrophy - late onset muscular dystrophy, congenital, 1b
muscular dystrophy with rimmed vacuoles congenital muscular dystrophy with hyperlaxity
congenital muscular dystrophy without intellectual disability

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

(show top 50)    (show all 143)
idRelated DiseaseScoreTop Affiliating Genes
1fukuyama type muscular dystrophy31.7FKTN, POMGNT1, POMT1, ITGA7, DMD, LAMA2
2ullrich congenital muscular dystrophy31.4COL6A2, COL6A3, COL6A1
3mental retardation31.0LOC619409, DMD, POMT1, POMGNT1, FKRP, FKTN
4walker-warburg syndrome30.9POMT1, DMD, POMGNT1, FKRP, ALG1, LARGE
5bethlem myopathy30.8COL6A2, COL6A3, COL6A1
6myopathy congenital30.8LOC619409, DMD, ITGA7, CHKB, SEPN1
7rigid spine syndrome30.6SEPN1, DMD, LOC619409
8lissencephaly30.6POMT1, POMGNT1, FKRP, FKTN, DAG1
9limb-girdle muscular dystrophy30.6FKRP, DMD
10microcephaly30.5POMT1, LOC619409
11becker muscular dystrophy30.1DMD
12duchenne muscular dystrophy30.1DMD
13muscular dystrophy-dystroglycanopathy , type a, 1430.1LARGE, LAMA2, DAG1, FKTN, FKRP, POMGNT1
14distal muscular dystrophy30.1CHKB, DMD
15fukuyama congenital muscular dystrophy11.2
16muscular dystrophy, congenital, merosin-positive10.7
17craniometaphyseal dysplasia, autosomal dominant10.7
18congenital muscular dystrophy type 1a10.6
19craniometaphyseal dysplasia10.5
20ocular muscular dystrophy10.5
21protein s deficiency10.4
22protein c deficiency10.4
23muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.4
24muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.4
25congenital fibrosis of the extraocular muscles10.4
26muscular atrophy10.4
27brain disease10.4
28muscular dystrophy-dystroglycanopathy , type b, 1410.4
29muscular dystrophy-dystroglycanopathy , type b, 110.4
30muscular dystrophy-dystroglycanopathy10.3
31congenital muscular dystrophy syringomyelia10.3
32muscular dystrophy, congenital, infantile with cataract and hypogonadism10.3
33muscular dystrophy, congenital, megaconial type10.3
34congenital muscular dystrophy, lmna-related10.3
35congenital muscular dystrophy due to integrin alpha-7 deficiency10.3
36muscular dystrophy, congenital, 1b10.3
37muscular dystrophy-dystroglycanopathy , type a, 110.3
38cataract, congenital10.3
39muscular dystrophy-dystroglycanopathy , type c, 210.3
40epidermolysis bullosa simplex10.2
41micro syndrome10.2
42lama2-related muscular dystrophy10.2
43polymicrogyria10.2
44salih myopathy10.2
45cerebellar hypoplasia10.2
46congenital contractures10.2
47protein r deficiency10.2
48muscular dystrophy, rigid spine, 110.2
49muscular dystrophy-dystroglycanopathy , type a, 310.2
50muscular dystrophy-dystroglycanopathy , type b, 310.2

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



Diseases related to congenital muscular dystrophy

Clinical Features for Congenital Muscular Dystrophy

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

607855,608840,613204,606612,613205,602771

Clinical synopsis from OMIM:

613205

Symptoms:

49 (show all 25)
  • anomalies of the neck
  • muscle weakness/flaccidity
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • lordosis
  • rigid spine
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • motor deficit/trouble
  • abnormal gait
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • myopathy
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal emg/electromyogram/electropmyography
  • restricted joint mobility/joint stiffness/ankylosis
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • narrow rib cage/thorax
  • ankle anomalies
  • cardiac rhythm disorder/arrhythmia
  • heart/cardiac failure
  • hyperextensible joints/articular hyperlaxity
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • death in infancy
  • fetal immobility/abnormal fetal movements

Drugs & Therapeutics for Congenital Muscular Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Congenital Muscular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Congenital Muscular Dystrophy

Search NIH Clinical Center for Congenital Muscular Dystrophy

Search CenterWatch for Congenital Muscular Dystrophy

Genetic Tests for Congenital Muscular Dystrophy

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Congenital Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy Multi-gene Panels20
2 Congenital Muscular Dystrophy20 22 SEPN1

Anatomical Context for Congenital Muscular Dystrophy

Animal Models for Congenital Muscular Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Congenital Muscular Dystrophy

Sources:
51PubMed
See all sources

Articles related to Congenital Muscular Dystrophy:

(show top 50)    (show all 542)
idTitleAuthorsYear
1
Laminin-111 improves muscle repair in a mouse model of merosin-deficient congenital muscular dystrophy. (24009313)
2014
2
Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report. (24113355)
2013
3
A large series of immunohistochemically confirmed cases of congenital muscular dystrophy seen over a period of one decade. (24262449)
2013
4
Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy. (21726969)
2012
5
Glycomic analyses of mouse models of congenital muscular dystrophy. (21460210)
2011
6
Bcl-2 inhibits the innate immune response during early pathogenesis of murine congenital muscular dystrophy. (21850221)
2011
7
Novel LMNA mutation presenting as severe congenital muscular dystrophy. (20837309)
2010
8
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. (19842201)
2009
9
Congenital muscular dystrophy and alpha-dystroglycanopathy]. (18939472)
2008
10
De novo LMNA mutations cause a new form of congenital muscular dystrophy. (18551513)
2008
11
Merosin-positive congenital muscular dystrophy: neuroimaging findings. (17420850)
2007
12
Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families. (19388593)
2006
13
Congenital muscular dystrophy in Arab children. (16901445)
2006
14
Subclinical cardiological involvement in Sicilian patients with pure congenital muscular dystrophy. (16205611)
2005
15
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. (15563506)
2005
16
Amelioration of laminin-alpha2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin. (16103356)
2005
17
Merosin-deficient congenital muscular dystrophy in two siblings. (15591603)
2004
18
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. (15103718)
2004
19
Merosin-positive congenital muscular dystrophy, white matter abnormalities, and bilateral posterior occipital cortical dysplasia]. (12868400)
2003
20
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). (12921796)
2003
21
Aberrant neuronal migration in the brainstem of fukuyama-type congenital muscular dystrophy. (12769189)
2003
22
Cardiac-restricted ankyrin-repeated protein is differentially induced in duchenne and congenital muscular dystrophy. (12746480)
2003
23
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency. (12031620)
2002
24
Congenital muscular dystrophy in Israeli families. (12150578)
2002
25
Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype. (11248459)
2001
26
Distinguishing cardiac features of a novel form of congenital muscular dystrophy (Salih cmd). (11455396)
2001
27
Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy. (11297945)
2001
28
Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy. (10714585)
2000
29
Age and origin of the FCMD 3'-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population. (11153909)
2000
30
Congenital muscular dystrophy. Care of children and families. (10370974)
1999
31
Fukutin, a novel protein product responsible for Fukuyama-type congenital muscular dystrophy]. (10067123)
1999
32
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? (10543397)
1999
33
Merosin-deficient congenital muscular dystrophy and cortical dysplasia. (10724100)
1998
34
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. (9039983)
1997
35
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy. (9099847)
1997
36
Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy. (9099829)
1997
37
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein. (8651294)
1996
38
Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. (8879653)
1996
39
Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy. (8596321)
1996
40
Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. (7477753)
1995
41
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. (7550355)
1995
42
Congenital muscular dystrophy (non-Fukuyama type): a case report. (7796362)
1995
43
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. (7833925)
1994
44
Fukuyama type congenital muscular dystrophy with central-temporal EEG foci (rolandic spikes). (8142632)
1993
45
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. (2159212)
1990
46
Freeze-fracture analysis of cholesterol in muscle plasma membrane of Fukuyama-type congenital muscular dystrophy. (3434215)
1987
47
Small size of orthogonal array in muscle plasma membrane of Fukuyama type congenital muscular dystrophy. (3825512)
1986
48
Prenatal diagnosis of congenital muscular dystrophy producing arthrogryposis. (3903500)
1985
49
Lipid composition of the cerebral gray and white matter in a case with Fukuyama type congenital muscular dystrophy. (4083391)
1985
50
Two Dutch siblings with congenital muscular dystrophy (Fukuyama type). (6315292)
1983

Genetic Variations for Congenital Muscular Dystrophy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Congenital Muscular Dystrophy:

63
id Symbol AA change Variation 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

Expression for genes affiliated with Congenital Muscular Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Congenital Muscular Dystrophy

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

Pathways for genes affiliated with Congenital Muscular Dystrophy

Sources:
54Reactome, 30KEGG, 52QIAGEN, 38NCBI BioSystems Database
See all sources

Pathways related to Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3COL6A1, COL6A3, COL6A2
210.3COL6A1, COL6A3, COL6A2
3
Hide members
10.3COL6A1, COL6A3, COL6A2
4
Hide members
10.3COL6A2, COL6A3, COL6A1
510.3PLOD3, POMGNT1, POMT1
6
Hide members
10.3LAMA2, DAG1, ITGA7, DMD
710.2LAMA2, DAG1, SSPN, DMD
8
Hide members
10.2COL6A2, COL6A3, COL6A1, ITGA7, LAMA2
910.2COL6A2, COL6A3, COL6A1, ITGA7, LAMA2
10
Hide members
10.2COL6A2, COL6A3, COL6A1, ITGA7, LAMA2
11
Hide members
10.2COL6A2, COL6A3, COL6A1, ITGA7, LAMA2
12
Hide members
10.2DMD, ITGA7, DAG1, LMNA, LAMA2
13
Hide members
10.0LAMA2, COL6A2, COL6A3, COL6A1, DMD, ITGA7

Compounds for genes affiliated with Congenital Muscular Dystrophy

Sources:
45Novoseek
See all sources

Compounds related to Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mannose4510.2ALG1, FKTN, POMGNT1, POMT1
2creatinine459.9LAMA2, DMD, ITGA7, CHKB, FKRP, LMNA

GO Terms for genes affiliated with Congenital Muscular Dystrophy

Sources:
16Gene Ontology
See all sources

Cellular components related to Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type VIGO:00558910.3COL6A1, COL6A3
2endoplasmic reticulum lumenGO:00578810.3FKBP14, COL6A1, COL6A3, COL6A2
3dystrophin-associated glycoprotein complexGO:01601010.2DMD, SSPN, FKRP, DAG1
4sarcolemmaGO:04238310.1LAMA2, COL6A2, COL6A3, COL6A1, DMD, SSPN
5extracellular matrixGO:03101210.0COL6A2, COL6A3, COL6A1, LAMA2

Biological processes related to Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1mannosylationGO:09750210.5POMT1, ALG1
2glycoprotein biosynthetic processGO:00910110.5LARGE, FKRP
3collagen catabolic processGO:03057410.4COL6A1, COL6A3, COL6A2
4muscle cell cellular homeostasisGO:04671610.4LARGE, DMD
5muscle organ developmentGO:00751710.4COL6A3, DMD, ITGA7, FKTN, LMNA, LAMA2
6extracellular matrix disassemblyGO:02261710.3COL6A2, COL6A3, COL6A1
7protein heterotrimerizationGO:07020810.3COL6A1, COL6A2
8extracellular matrix organizationGO:03019810.2LAMA2, COL6A2, COL6A3, COL6A1, DMD, ITGA7
9axon guidanceGO:00741110.0LAMA2, COL6A1, COL6A3, COL6A2

Molecular functions related to Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vinculin bindingGO:01716610.4DAG1, DMD
2mannosyltransferase activityGO:00003010.0ALG1, POMT1

Products for genes affiliated with Congenital Muscular Dystrophy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Muscular Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet