CMD
MCID: CNG030
MIFTS: 65

Congenital Muscular Dystrophy (CMD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Cardiovascular diseases categories
Download this MalaCard

Summaries for Congenital Muscular Dystrophy

About this section
Sources:
8Disease Ontology, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
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 Hypertrophic cardiomyopathy (HCM) and NCAM signaling for neurite out-growth. The compound creatinine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and heart, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Wikipedia:65 Congenital muscular dystrophy (CMD) is muscular dystrophy that is present at birth. CMD includes a... more...

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

GeneReviews summary for cmd-overview

Aliases & Classifications for Congenital Muscular Dystrophy

About this section
Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



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 62
muscular dystrophy, congenital 9 20 22 47
congenital muscular dystrophy due to lmna mutation 49
craniometaphyseal dysplasia, autosomal dominant 62
lmna-related congenital muscular dystrophy 49
congenital md 43
l-cmd 49
mdc 49
cmd 49


External Ids:

Disease Ontology8 DOID:0050557
ICD10 via Orphanet26 G71.2
SNOMED-CT via Orphanet59 240059009
UMLS via Orphanet63 C0699743

Related Diseases for Congenital Muscular Dystrophy

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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 111)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy31.8FKTN, LMNA, SEPN1, LAMA2, FKRP, LARGE
2ullrich congenital muscular dystrophy31.5COL6A2, COL6A3
3fukuyama type muscular dystrophy31.1LARGE, FKTN, LAMA2
4bethlem myopathy30.9COL6A3, COL6A2
5walker-warburg syndrome30.8FKRP, FKTN, LAMA2, LARGE
6lissencephaly30.6FKRP, FKTN
7myopathy30.5LAMA2, COL6A2, COL6A3, FKRP, SEPN1, FKTN
8limb-girdle muscular dystrophy30.4LMNA, LAMA2, FKTN, FKRP
9neuromuscular disease30.1LMNA, LAMA2
10duchenne muscular dystrophy30.1LAMA2, FKTN
11muscular dystrophy-dystroglycanopathy , type a, 1430.1LARGE, LAMA2, FKTN, FKRP
12neuropathy30.1LAMA2, SEPN1, LMNA, FKTN, COL6A2, FKRP
13dilated cardiomyopathy30.0LMNA, LAMA2, FKRP
14fukuyama congenital muscular dystrophy10.9
15cerebritis10.7
16mental retardation10.7
17congenital muscular dystrophy type 1a10.7
18neuronitis10.5
19rigid spine syndrome10.5
20muscular dystrophy-dystroglycanopathy , type b, 1410.4
21muscular dystrophy-dystroglycanopathy , type b, 110.4
22microcephaly10.3
23brain disease10.3
24cataract10.3
25epidermolysis bullosa10.3
26muscle eye brain disease10.3
27muscular dystrophy, congenital, infantile with cataract and hypogonadism10.3
28muscular dystrophy, congenital, megaconial type10.3
29muscular dystrophy, congenital, merosin-positive10.3
30congenital muscular dystrophy, lmna-related10.3
31congenital muscular dystrophy due to integrin alpha-7 deficiency10.3
32muscular dystrophy, congenital, 1b10.3
33muscular dystrophy-dystroglycanopathy , type b, 410.3
34muscular dystrophy-dystroglycanopathy , type a, 110.3
35craniometaphyseal dysplasia10.3
36epidermolysis bullosa simplex10.2
37hydrocephalus10.2
38lama2-related muscular dystrophy10.2
39salih myopathy10.2
40cerebellar hypoplasia10.2
41congenital muscular dystrophy syringomyelia10.2
42muscular dystrophy-dystroglycanopathy , type a, 310.2
43muscular dystrophy-dystroglycanopathy , type b, 310.2
44muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.2
45muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.2
46muscular dystrophy, congenital, due to partial lama2 deficiency10.2
47muscular dystrophy-dystroglycanopathy , type a, 710.2
48muscular dystrophy-dystroglycanopathy , type a, 1210.2
49muscular dystrophy-dystroglycanopathy , type c, 110.2
50muscular dystrophy, congenital, due to itga7 deficiency10.2

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



Diseases related to congenital muscular dystrophy

Symptoms for Congenital Muscular Dystrophy

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

613205

Clinical features from OMIM:

613205,613204,602771,606612,607855,608840

Symptoms:

49 (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

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Congenital Muscular Dystrophy

Search NIH Clinical Center for Congenital Muscular Dystrophy

Genetic Tests for Congenital Muscular Dystrophy

About this section
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

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Congenital Muscular Dystrophy:

33
Brain, Eye, Heart, Skeletal muscle, Skin, Lung, Retina, Cortex, Bone marrow, Bone, Thymus, T cells, Cerebellum, Spinal cord, Testes

Animal Models for Congenital Muscular Dystrophy or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Congenital Muscular Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2LMNA, LAMA2, LARGE
2MP:00053828.6LARGE, LAMA2, LMNA, FKRP
3MP:00053918.4COL6A3, FKRP, LMNA, LARGE
4MP:00036317.9LARGE, LAMA2, LMNA, FKTN, FKRP
5MP:00053867.5LARGE, LAMA2, SEPN1, LMNA, FKTN, FKRP
6MP:00053907.5LARGE, LAMA2, SEPN1, LMNA, FKRP, COL6A3
7MP:00053767.4LARGE, LAMA2, SEPN1, LMNA, FKTN, FKRP
8MP:00053697.1COL6A3, LARGE, LAMA2, SEPN1, LMNA, FKTN
9MP:00053787.1LARGE, LAMA2, SEPN1, LMNA, FKTN, FKRP

Publications for Congenital Muscular Dystrophy

About this section
Sources:
52PubMed
See all sources

Articles related to Congenital Muscular Dystrophy:

(show top 50)    (show all 528)
idTitleAuthorsYear
1
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. (23572247)
2013
2
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. (23856421)
2013
3
Normalisation of left ventricular systolic function after change from VVI pacing to biventricular pacing in a child with congenital complete atrioventricular block, long-QT syndrome, and congenital muscular dystrophy: a 10-year follow-up. (23679959)
2013
4
Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation. (22499106)
2012
5
Moderately progressive Ullrich congenital muscular dystrophy. (22016142)
2012
6
Transgenic overexpression of the I+7 integrin reduces muscle pathology and improves viability in the dy(W) mouse model of merosin-deficient congenital muscular dystrophy type 1A. (21652631)
2011
7
Functions of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in neuromuscular system and other somatic organs. (20518731)
2010
8
Merosin-deficient congenital muscular dystrophy]. (20607928)
2010
9
Surgical correction of spinal deformity in patients with congenital muscular dystrophy. (20721717)
2010
10
Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy. (19324374)
2009
11
Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy. (19086074)
2009
12
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. (19015158)
2009
13
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. (19901254)
2009
14
Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy. (17597323)
2008
15
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. (17634419)
2007
16
Overexpression of the cytotoxic T cell (CT) carbohydrate inhibits muscular dystrophy in the dyW mouse model of congenital muscular dystrophy 1A. (17591965)
2007
17
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. (16935502)
2006
18
Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene. (16386759)
2006
19
Identification of a functional CRE in the promoter of Fukuyama congenital muscular dystrophy gene fukutin. (15893581)
2005
20
Subclinical cardiological involvement in Sicilian patients with pure congenital muscular dystrophy. (16205611)
2005
21
Merosin-deficient congenital muscular dystrophy in two siblings. (15591603)
2004
22
Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy. (15626844)
2004
23
Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I. (14872048)
2004
24
Assessment of left ventricular systolic and diastolic functions in children with merosin-positive congenital muscular dystrophy. (12559529)
2003
25
Protein glycosylation in disease: new insights into the congenital muscular dystrophies. (12707004)
2003
26
Nonmuscular involvement in merosin-negative congenital muscular dystrophy. (11814732)
2002
27
Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. (12207929)
2002
28
Deficiency of a 180-kDa extracellular matrix protein in Fukuyama type congenital muscular dystrophy skeletal muscle. (11738352)
2002
29
Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype. (11248459)
2001
30
Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings. (11525887)
2001
31
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. (11741828)
2001
32
Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy. (10714585)
2000
33
The Fukuyama congenital muscular dystrophy story. (10734260)
2000
34
Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration. (10682317)
1999
35
Congenital muscular dystrophy. Care of children and families. (10370974)
1999
36
Limitation of eye movement in merosin-deficient congenital muscular dystrophy. (9929033)
1999
37
Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients. (9877136)
1998
38
Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy. (9255383)
1997
39
Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy. (9326364)
1997
40
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. (9039983)
1997
41
Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2. (8745640)
1995
42
Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up. (7671985)
1995
43
Dystrophinopathy presenting as congenital muscular dystrophy. (7981596)
1994
44
Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. (1731332)
1992
45
Immunocytochemical analysis of dystrophin in congenital muscular dystrophy. (1795174)
1991
46
Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type. (1792864)
1991
47
Muscle, eye and brain syndrome--a distinct type of congenital muscular dystrophy? (2708018)
1989
48
Long survival in Fukuyama congenital muscular dystrophy: occurrence of neurofibrillary tangles in the nucleus basalis of Meynert and locus ceruleus. (3799138)
1986
49
An electron microscopical study of the T-system in biopsied muscles from Fukuyama type congenital muscular dystrophy. (6543909)
1984
50
Congenital muscular dystrophy (CMD) - a collagen formative disease? (7202042)
1982

Variations for Congenital Muscular Dystrophy

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

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

64
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 Congenital Muscular Dystrophy:

1 (show all 11)
id Gene Name 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
6ANKHNM_054027.4(ANKH): c.1129_1131delTTC (p.Phe377del)deletionPathogenicrs121908405GRCh37Chr 5, 14716825: 14716827
7NM_054027.4(ANKH): c.1165G> A (p.Gly389Arg)single nucleotide variantPathogenicrs28939080GRCh37Chr 5, 14713753: 14713753
8ANKHNM_054027.4(ANKH): c.1123_1125delTCC (p.Ser375del)deletionPathogenicrs121908406GRCh37Chr 5, 14716831: 14716833
9ANKHNM_054027.4(ANKH): c.1015T> C (p.Cys339Arg)single nucleotide variantPathogenicrs267606656GRCh37Chr 5, 14716941: 14716941
10NM_054027.4(ANKH): c.1172T> C (p.Leu391Pro)single nucleotide variantPathogenicrs267606658GRCh37Chr 5, 14713746: 14713746
11ANKHNM_054027.4(ANKH): c.1001T> G (p.Leu334Arg)single nucleotide variantPathogenicrs267606657GRCh37Chr 5, 14741946: 14741946

Expression for genes affiliated with Congenital Muscular Dystrophy

About this section
Sources:
2BioGPS, 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

About this section
Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN
See all sources

Compounds for genes affiliated with Congenital Muscular Dystrophy

About this section
Sources:
45Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1creatinine459.1FKRP, LMNA, LAMA2

GO Terms for genes affiliated with Congenital Muscular Dystrophy

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310128.8LAMA2, COL6A3, COL6A2
2extracellular spaceGO:0056158.5COL6A2, COL6A3, FKRP, FKTN
3sarcolemmaGO:0423838.4COL6A2, COL6A3, FKRP, LAMA2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1regulation of cell migrationGO:0303349.7LMNA, LAMA2
2extracellular matrix disassemblyGO:0226179.5COL6A2, COL6A3
3glycoprotein biosynthetic processGO:0091019.5LARGE, FKRP
4extracellular matrix organizationGO:0301989.2COL6A2, COL6A3, LAMA2
5collagen catabolic processGO:0305749.2COL6A2, COL6A3
6axon guidanceGO:0074119.2LAMA2, COL6A3, COL6A2
7muscle organ developmentGO:0075179.1COL6A3, FKTN, LMNA, LAMA2
8cell adhesionGO:0071559.0LAMA2, COL6A3, COL6A2

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

idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:0167409.5FKRP, FKTN

Products for genes affiliated with Congenital Muscular Dystrophy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Muscular Dystrophy

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet