CMD
MCID: CNG030
MIFTS: 72

Congenital Muscular Dystrophy (CMD) malady

Neuronal diseases, Muscle diseases categories

Summaries for Congenital Muscular Dystrophy

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8Disease Ontology, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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 muscular dystrophy and ullrich congenital muscular dystrophy, and has symptoms including fetal immobility/abnormal fetal movements, death in infancy and wasted (excluding lipodystrophy)/poorly muscled build/cachexy. An important gene associated with Congenital Muscular Dystrophy is LMNA (lamin A/C), and among its related pathways are Protein digestion and absorption and NCAM signaling for neurite out-growth. The compounds mannose and creatinine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skeletal muscle, and related mouse phenotypes are other and skeleton.

Wikipedia:63 Congenital muscular dystrophy (CMD) is muscular dystrophy that is present at birth. CMD includes a... more...

Description from OMIM:46 607855, 608840, 613204, 606612, 613205 602771 more

GeneReviews summary for cmd-overview

Aliases & Classifications for Congenital Muscular Dystrophy

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 10 48 60
muscular dystrophy, congenital 9 20 22 46
congenital muscular dystrophy due to lmna mutation 48
craniometaphyseal dysplasia, autosomal dominant 60
lmna-related congenital muscular dystrophy 48
congenital md 42
l-cmd 48
mdc 48
cmd 48


External Ids:

Disease Ontology8 DOID:0050557
ICD10 via Orphanet26 G71.2
SNOMED-CT via Orphanet57 240059009
UMLS via Orphanet61 C0699743

Related Diseases for Congenital Muscular Dystrophy

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Congenital Muscular Dystrophy family:

Muscular Dystrophy Lama2-Related Muscular Dystrophy
Congenital Muscular Dystrophy Type 1a Muscular Dystrophy - Late Onset
Congenital Muscular Dystrophy, Lmna-Related Muscular Dystrophy, Congenital, 1b

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

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.1SEPN1, LARGE, LAMA2, LMNA, LOC619409, DAG1
2ullrich congenital muscular dystrophy31.4COL6A2, COL6A3, COL6A1
3fukuyama type muscular dystrophy31.0FKTN, POMGNT1, POMT1, ITGA7, DMD, LAMA2
4walker-warburg syndrome30.8POMT1, DMD, POMGNT1, FKRP, ALG1, LARGE
5bethlem myopathy30.8COL6A2, COL6A3, COL6A1
6myopathy30.8POMT1, CHKB, ITGA7, DMD, COL6A1, COL6A3
7limb-girdle muscular dystrophy30.6FKRP, DMD
8lissencephaly30.5POMT1, POMGNT1, FKRP, FKTN, DAG1
9microcephaly30.4POMT1, LOC619409
10neuropathy30.3LMNA, DAG1, FKTN, FKRP, POMGNT1, POMT1
11becker muscular dystrophy30.1DMD
12duchenne muscular dystrophy30.1DMD
13rigid spine syndrome30.1SEPN1, DMD, LOC619409
14respiratory failure30.1LAMA2, LOC619409
15myocarditis30.1CHKB, DMD
16muscular dystrophy-dystroglycanopathy , type a, 1430.1LARGE, LAMA2, DAG1, FKTN, FKRP, POMGNT1
17neuromuscular disease30.1LAMA2, LMNA, CHKB, DMD
18distal muscular dystrophy30.1CHKB, DMD
19dilated cardiomyopathy29.9LAMA2, LMNA, FKRP, CHKB, DMD
20fukuyama congenital muscular dystrophy11.1
21cerebritis10.7
22congenital muscular dystrophy type 1a10.6
23neuronitis10.5
24muscular atrophy10.4
25brain disease10.4
26eye disease10.4
27muscular dystrophy-dystroglycanopathy , type b, 1410.4
28muscular dystrophy-dystroglycanopathy , type b, 110.4
29cataract10.3
30epidermolysis bullosa10.3
31muscular dystrophy, congenital, infantile with cataract and hypogonadism10.3
32muscular dystrophy, congenital, megaconial type10.3
33muscular dystrophy, congenital, merosin-positive10.3
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 b, 410.3
38muscular dystrophy-dystroglycanopathy , type a, 110.3
39craniometaphyseal dysplasia10.3
40muscular dystrophy-dystroglycanopathy , type c, 210.3
41epidermolysis bullosa simplex10.2
42congenital nervous system abnormality10.2
43hydrocephalus10.2
44lama2-related muscular dystrophy10.2
45polymicrogyria10.2
46salih myopathy10.2
47congenital muscular dystrophy syringomyelia10.2
48muscular dystrophy-dystroglycanopathy , type a, 310.2
49muscular dystrophy-dystroglycanopathy , type b, 310.2
50muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.2

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



Diseases related to congenital muscular dystrophy

Clinical Features for Congenital Muscular Dystrophy

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

607855,608840,613204,606612,613205,602771

Clinical synopsis from OMIM:

613205

Symptoms:

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

Drugs & Therapeutics for Congenital Muscular Dystrophy

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Sources:
5CenterWatch, 41NIH 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

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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Congenital Muscular Dystrophy:

32
Brain, Eye, Skeletal muscle, Heart, Skin, Lung, Retina, Cortex, Bone marrow, Bone, Thymus, T cells, Cerebellum, Spinal cord, Testes

Animal Models for Congenital Muscular Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Congenital Muscular Dystrophy:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539510.4FKTN, DAG1, PLOD3, LAMA2, POMGNT1
2MP:000539010.2DMD, ITGA7, CHKB, SSPN, FKRP, LMNA
3MP:000539110.2DMD, POMGNT1, DAG1, LMNA, LARGE, FKRP
4MP:000363110.1FKRP, FKTN, PLOD3, LMNA, LAMA2, LARGE
5MP:000538610.1LMNA, LARGE, CHKB, LAMA2, DAG1, FKTN
6MP:000537810.0DMD, ITGA7, SSPN, POMGNT1, FKTN, SEPN1
7MP:00107689.9POMT1, DMD, ITGA7, SSPN, POMGNT1, FKRP
8MP:00053769.9ITGA7, DMD, FKRP, CHKB, SSPN, POMGNT1
9MP:00053849.9PLOD3, DAG1, POMGNT1, ITGA7, LMNA, DMD
10MP:00053859.9DMD, POMT1, POMGNT1, DAG1, PLOD3, LMNA
11MP:00053699.9DMD, LMNA, SSPN, POMT1, POMGNT1, FKRP
12MP:00053829.9LARGE, POMGNT1, FKRP, DAG1, LAMA2, LMNA

Publications for Congenital Muscular Dystrophy

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Sources:
50PubMed
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Articles related to Congenital Muscular Dystrophy:

(show top 50)    (show all 559)
idTitleAuthorsYear
1
Moderately progressive Ullrich congenital muscular dystrophy. (22016142)
2012
2
A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement. (22240398)
2012
3
Telethonin-deficiency initially presenting as a congenital muscular dystrophy. (21530252)
2011
4
Merosin-deficient congenital muscular dystrophy]. (20607928)
2010
5
Congenital muscular dystrophy: a parent's hopes and fears. (20634073)
2010
6
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. (19842201)
2009
7
Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy. (17597323)
2008
8
MR spectroscopy and diffusion tensor imaging of the brain in congenital muscular dystrophy with merosin deficiency: metabolite level decreases, fractional anisotropy decreases, and apparent diffusion coefficient increases in the white matter. (17113260)
2007
9
Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy]. (17523119)
2007
10
Bone marrow transplantation improves outcome in a mouse model of congenital muscular dystrophy. (16859688)
2006
11
Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease? (16487936)
2006
12
Congenital muscular dystrophy: mini-agrin delivers in mice. (17262906)
2006
13
Identification of a functional CRE in the promoter of Fukuyama congenital muscular dystrophy gene fukutin. (15893581)
2005
14
Congenital muscular dystrophy. (16092630)
2005
15
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. (16075202)
2005
16
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. (15103718)
2004
17
Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy. (15322429)
2004
18
Contribution of immunological and genetic investigations to improve classification of patients with congenital muscular dystrophy. (23377242)
2004
19
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. (12966029)
2003
20
FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies. (14642275)
2003
21
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
22
Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype. (12921792)
2003
23
Altered aquaporin 4 expression in muscles of Fukuyama-type congenital muscular dystrophy. (12942324)
2003
24
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency. (12031620)
2002
25
Congenital muscular dystrophy in Israeli families. (12150578)
2002
26
85th ENMC International Workshop on Congenital Muscular Dystrophy. 6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000, Naarden, The Netherlands. (11731288)
2002
27
A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy. (12184464)
2001
28
Analysis of genotype and phenotype in fukuyama congenital muscular dystrophy. (11024205)
2000
29
Fukuyama-type congenital muscular dystrophy]. (11464484)
2000
30
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. (10677302)
2000
31
Immature astrocytes in Fukuyama congenital muscular dystrophy: an immunohistochemical study. (10029257)
1999
32
Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient. (10399753)
1999
33
Congenital muscular dystrophy with partial merosin deficiency and late onset epilepsy. (9693231)
1998
34
Merosin-deficient congenital muscular dystrophy and cortical dysplasia. (10724100)
1998
35
Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases. (9674785)
1998
36
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy. (9099847)
1997
37
Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. (8879653)
1996
38
Congenital muscular dystrophy associated with merosin deficiency. (8807418)
1996
39
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. (8786062)
1996
40
Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis]. (8729391)
1996
41
Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up. (7671985)
1995
42
Congenital muscular dystrophy with syringomyelia. (7880344)
1994
43
Congenital muscular dystrophy of a non-Fukuyama type with white matter hyperlucency on CT scan. (1492657)
1992
44
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
45
Congenital muscular dystrophy and cerebellar vermis agenesis in two brothers. (3215750)
1988
46
Long survival in Fukuyama congenital muscular dystrophy: occurrence of neurofibrillary tangles in the nucleus basalis of Meynert and locus ceruleus. (3799138)
1986
47
Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the SociActAc de Neurologie Infantile. (3091775)
1986
48
Congenital muscular dystrophy with severe infantile scoliosis. (4083385)
1985
49
Two Dutch siblings with congenital muscular dystrophy (Fukuyama type). (6315292)
1983
50
Fukuyama-type congenital muscular dystrophy. (7125985)
1982

Genetic Variations for Congenital Muscular Dystrophy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Muscular Dystrophy:

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

Expression for genes affiliated with Congenital Muscular Dystrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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29KEGG, 53Reactome, 51QIAGEN, 37NCBI BioSystems Database
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Pathways related to Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3COL6A1, COL6A3, COL6A2
2
Hide members
10.3COL6A1, COL6A3, COL6A2
3
Hide members
10.3COL6A2, COL6A3, COL6A1
4
Hide members
10.3COL6A2, COL6A1, COL6A3
510.3PLOD3, POMGNT1, POMT1
6
Hide members
10.3DAG1, DMD, ITGA7, LAMA2
710.2LAMA2, DAG1, SSPN, DMD
8
Hide members
10.2LAMA2, ITGA7, COL6A1, COL6A3, COL6A2
9
Hide members
10.2COL6A3, COL6A1, COL6A2, ITGA7, LAMA2
1010.2COL6A2, COL6A3, COL6A1, ITGA7, LAMA2
11
Hide members
10.2COL6A2, COL6A3, COL6A1, ITGA7, LAMA2
12
Hide members
10.2ITGA7, DAG1, LMNA, LAMA2, DMD
13
Hide members
10.0ITGA7, COL6A3, COL6A1, DMD, COL6A2, PLOD3

Compounds for genes affiliated with Congenital Muscular Dystrophy

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44Novoseek
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Compounds related to Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mannose4410.2ALG1, FKTN, POMGNT1, POMT1
2creatinine449.9LAMA2, DMD, ITGA7, CHKB, FKRP, LMNA

GO Terms for genes affiliated with Congenital Muscular Dystrophy

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16Gene Ontology
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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:09750210.5ALG1, POMT1
2glycoprotein biosynthetic processGO:00910110.5FKRP, LARGE
3collagen catabolic processGO:03057410.4COL6A3, COL6A2, COL6A1
4muscle cell cellular homeostasisGO:04671610.4LARGE, DMD
5muscle organ developmentGO:00751710.4ITGA7, FKTN, COL6A3, LMNA, LAMA2, DMD
6extracellular matrix disassemblyGO:02261710.3COL6A2, COL6A1, COL6A3
7protein heterotrimerizationGO:07020810.3COL6A2, COL6A1
8extracellular matrix organizationGO:03019810.2PLOD3, DAG1, POMT1, ITGA7, DMD, COL6A1
9axon guidanceGO:00741110.0COL6A3, COL6A1, LAMA2, 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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Muscular Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet