L-CMD
MCID: CNG030
MIFTS: 67

Congenital Muscular Dystrophy (L-CMD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Cardiovascular diseases categories
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Summaries for Congenital Muscular Dystrophy

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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 based summary: Congenital Muscular Dystrophy, also known as muscular dystrophy, congenital, is related to 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 Non-integrin membrane-ECM interactions and ECM proteoglycans. The compound creatinine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skeletal muscle, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

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

Descriptions from OMIM:46 607855, 608840, 602541, 254100, 609456 613204, 604801, 613205, 602771, 253900, 606612 more

GeneReviews summary for cmd-overview

Aliases & Classifications for Congenital Muscular Dystrophy

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Congenital Muscular Dystrophy, Aliases & Descriptions:

Name: Congenital Muscular Dystrophy 8 19 42 10 62
Muscular Dystrophy, Congenital 9 20 22 46
Congenital Muscular Dystrophy Due to Lmna Mutation 48
Craniometaphyseal Dysplasia, Autosomal Dominant 62
 
Muscular Dystrophy, Congenital, Lmna-Related 62
Lmna-Related Congenital Muscular Dystrophy 48
Congenital Md 42
L-Cmd 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital muscular dystrophy due to lmna mutation:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0050557
ICD9CM27 359.0
ICD10 via Orphanet26 G71.2

Related Diseases for Congenital Muscular Dystrophy

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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 102)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.2ITGA7, COL6A1, COL6A3
2ullrich congenital muscular dystrophy31.5COL6A2, COL6A3, COL6A1
3walker-warburg syndrome31.1FKRP, FKTN, LAMA2, LARGE
4muscular dystrophy-dystroglycanopathy , type b, 531.0FKRP, FKTN, LAMA2
5bethlem myopathy30.9COL6A1, COL6A3, COL6A2
6lissencephaly30.8FKRP, FKTN
7muscular dystrophy-dystroglycanopathy , type a, 130.8FKRP, FKTN, LAMA2, LARGE
8muscular dystrophy-dystroglycanopathy , type a, 430.7LARGE, LAMA2, FKTN, ITGA7
9myopathy congenital30.3ITGA7, SEPN1
10duchenne muscular dystrophy30.3ITGA7, FKTN, LAMA2
11limb-girdle muscular dystrophy30.3LAMA2, LMNA, FKTN, FKRP
12neuromuscular disease29.9LMNA, LAMA2
13neuropathy29.6LAMA2, SEPN1, LMNA, FKTN, FKRP, COL6A2
14myopathy29.2COL6A2, COL6A3, COL6A1, ITGA7, FKRP, FKTN
15fukuyama congenital muscular dystrophy10.9
16fukuyama type muscular dystrophy10.7
17cerebritis10.7
18mental retardation10.7
19congenital muscular dystrophy type 1a10.7
20neuronitis10.5
21rigid spine syndrome10.5
22microcephaly10.4
23muscular dystrophy, congenital, infantile with cataract and hypogonadism10.4
24muscular dystrophy-dystroglycanopathy , type b, 110.4
25muscular dystrophy-dystroglycanopathy , type b, 610.4
26congenital fiber-type disproportion10.4SEPN1
27cataract10.3
28brain disease10.3
29epidermolysis bullosa10.3
30muscle eye brain disease10.3
31muscular dystrophy, congenital, megaconial type10.3
32muscular dystrophy, congenital, merosin-positive10.3
33congenital muscular dystrophy, lmna-related10.3
34congenital muscular dystrophy due to integrin alpha-7 deficiency10.3
35becker muscular dystrophy10.3FKTN, LAMA2
36muscular dystrophy-dystroglycanopathy , type c, 510.3LAMA2, FKRP
37hydrocephalus10.3
38epidermolysis bullosa simplex10.3
39lama2-related muscular dystrophy10.3
40polymicrogyria10.3
41salih myopathy10.3
42cerebellar hypoplasia10.3
43congenital muscular dystrophy syringomyelia10.3
44muscular dystrophy-dystroglycanopathy , type a, 310.3
45muscular dystrophy-dystroglycanopathy , type b, 310.3
46muscular dystrophy, congenital, 1b10.3
47muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.3
48muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.3
49muscular dystrophy-dystroglycanopathy , type b, 1410.3
50muscular dystrophy, congenital, due to partial lama2 deficiency10.3

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



Diseases related to congenital muscular dystrophy

Symptoms for Congenital Muscular Dystrophy

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Symptoms by clinical synopsis from OMIM:

613205

Clinical features from OMIM:

607855, 608840, 602541, 254100, 609456, 613204, 604801, 613205, 602771, 253900 606612 more

Symptoms:

48 (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

HPO human phenotypes related to Congenital Muscular Dystrophy:

(show all 35)
id Description Frequency HPO Source Accession
1 abnormality of the neck hallmark (90%) HP:0000464
2 muscle weakness hallmark (90%) HP:0001324
3 muscular hypotonia typical (50%) HP:0001252
4 gait disturbance typical (50%) HP:0001288
5 flexion contracture typical (50%) HP:0001371
6 limitation of joint mobility typical (50%) HP:0001376
7 respiratory insufficiency typical (50%) HP:0002093
8 developmental regression typical (50%) HP:0002376
9 myopathy typical (50%) HP:0003198
10 amyotrophy typical (50%) HP:0003202
11 spinal rigidity typical (50%) HP:0003306
12 hyperlordosis typical (50%) HP:0003307
13 emg abnormality typical (50%) HP:0003457
14 cognitive impairment typical (50%) HP:0100543
15 narrow chest occasional (7.5%) HP:0000774
16 joint hypermobility occasional (7.5%) HP:0001382
17 prenatal movement abnormality occasional (7.5%) HP:0001557
18 congestive heart failure occasional (7.5%) HP:0001635
19 abnormality of the ankles occasional (7.5%) HP:0003028
20 decreased body weight occasional (7.5%) HP:0004325
21 arrhythmia occasional (7.5%) HP:0011675
22 autosomal dominant inheritance HP:0000006
23 neck muscle weakness HP:0000467
24 motor delay HP:0001270
25 flexion contracture HP:0001371
26 failure to thrive HP:0001508
27 decreased fetal movement HP:0001558
28 talipes HP:0001883
29 respiratory insufficiency due to muscle weakness HP:0002747
30 elevated serum creatine phosphokinase HP:0003236
31 spinal rigidity HP:0003306
32 progressive disorder HP:0003676
33 generalized amyotrophy HP:0003700
34 variable expressivity HP:0003828
35 severe muscular hypotonia HP:0006829

Drugs & Therapeutics for Congenital Muscular Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Congenital Muscular Dystrophy

Search NIH Clinical Center for Congenital Muscular Dystrophy

Genetic Tests for Congenital Muscular Dystrophy

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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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MalaCards organs/tissues related to Congenital Muscular Dystrophy:

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

Animal Models for Congenital Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Congenital Muscular Dystrophy:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1LARGE, LAMA2, LMNA, ANKH
2MP:00053919.0COL6A3, FKRP, LMNA, LARGE
3MP:00053828.7LARGE, LAMA2, LMNA, FKRP, ANKH
4MP:00036317.5LARGE, LAMA2, LMNA, FKTN, FKRP, ITGA7
5MP:00107687.4LARGE, LAMA2, LMNA, FKTN, FKRP, ANKH
6MP:00053847.4SEPN1, LMNA, FKTN, FKRP, ANKH, ITGA7
7MP:00053867.2LARGE, LAMA2, SEPN1, LMNA, FKTN, FKRP
8MP:00053907.2LARGE, LAMA2, SEPN1, LMNA, FKRP, ANKH
9MP:00053767.2LARGE, LAMA2, SEPN1, LMNA, FKTN, FKRP
10MP:00053786.8LARGE, LAMA2, SEPN1, LMNA, FKTN, FKRP
11MP:00053696.4COL6A3, LARGE, LAMA2, SEPN1, LMNA, FKTN

Publications for Congenital Muscular Dystrophy

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Articles related to Congenital Muscular Dystrophy:

(show top 50)    (show all 552)
idTitleAuthorsYear
1
Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy. (24604798)
2014
2
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. (24530477)
2014
3
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. (23572247)
2013
4
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. (23856421)
2013
5
Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation. (22499106)
2012
6
Moderately progressive Ullrich congenital muscular dystrophy. (22016142)
2012
7
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
8
Functions of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in neuromuscular system and other somatic organs. (20518731)
2010
9
Merosin-deficient congenital muscular dystrophy]. (20607928)
2010
10
Surgical correction of spinal deformity in patients with congenital muscular dystrophy. (20721717)
2010
11
Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy. (19324374)
2009
12
Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy. (19086074)
2009
13
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. (19015158)
2009
14
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. (19901254)
2009
15
Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy. (17597323)
2008
16
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. (17634419)
2007
17
Overexpression of the cytotoxic T cell (CT) carbohydrate inhibits muscular dystrophy in the dyW mouse model of congenital muscular dystrophy 1A. (17591965)
2007
18
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
19
Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene. (16386759)
2006
20
Identification of a functional CRE in the promoter of Fukuyama congenital muscular dystrophy gene fukutin. (15893581)
2005
21
Subclinical cardiological involvement in Sicilian patients with pure congenital muscular dystrophy. (16205611)
2005
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
Distinguishing cardiac features of a novel form of congenital muscular dystrophy (Salih cmd). (11455396)
2001
32
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
33
Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy. (10714585)
2000
34
The Fukuyama congenital muscular dystrophy story. (10734260)
2000
35
Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration. (10682317)
1999
36
Congenital muscular dystrophy. Care of children and families. (10370974)
1999
37
Limitation of eye movement in merosin-deficient congenital muscular dystrophy. (9929033)
1999
38
Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients. (9877136)
1998
39
Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy. (9255383)
1997
40
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
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

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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:

6 (show all 12)
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
6LMNANM_005572.3(LMNA): c.1381-2A> Gsingle nucleotide variantLikely pathogenicrs267607600GRCh37Chr 1, 156106710: 156106710
7ANKHNM_054027.4(ANKH): c.1129_1131delTTC (p.Phe377del)deletionPathogenicrs121908405GRCh37Chr 5, 14716825: 14716827
8NM_054027.4(ANKH): c.1165G> A (p.Gly389Arg)single nucleotide variantPathogenicrs28939080GRCh37Chr 5, 14713753: 14713753
9ANKHNM_054027.4(ANKH): c.1123_1125delTCC (p.Ser375del)deletionPathogenicrs121908406GRCh37Chr 5, 14716831: 14716833
10ANKHNM_054027.4(ANKH): c.1015T> C (p.Cys339Arg)single nucleotide variantPathogenicrs267606656GRCh37Chr 5, 14716941: 14716941
11NM_054027.4(ANKH): c.1172T> C (p.Leu391Pro)single nucleotide variantPathogenicrs267606658GRCh37Chr 5, 14713746: 14713746
12ANKHNM_054027.4(ANKH): c.1001T> G (p.Leu334Arg)single nucleotide variantPathogenicrs267606657GRCh37Chr 5, 14741946: 14741946

Expression for genes affiliated with Congenital Muscular Dystrophy

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

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Proteogylcan syndecan-mediated signaling events37
9.3ITGA7, LAMA2
29.3ITGA7, LAMA2
3
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.0LAMA2, LMNA, ITGA7
4
Show member pathways
9.0COL6A1, COL6A3, COL6A2
5
Show member pathways
9.0COL6A1, COL6A3, COL6A2
6
Show member pathways
9.0COL6A2, COL6A3, COL6A1
7
Show member pathways
9.0COL6A2, COL6A3, COL6A1
89.0COL6A2, COL6A3, COL6A1
97.8LAMA2, ITGA7, COL6A1, COL6A3, COL6A2
10
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
7.8LAMA2, ITGA7, COL6A1, COL6A3, COL6A2
11
Show member pathways
7.8LAMA2, ITGA7, COL6A1, COL6A3, COL6A2
12
Show member pathways
7.8COL6A2, COL6A3, COL6A1, ITGA7, LAMA2
13
Show member pathways
7.8LAMA2, ITGA7, COL6A1, COL6A3, COL6A2
14
Show member pathways
7.8COL6A2, COL6A3, COL6A1, ITGA7, LAMA2

Compounds for genes affiliated with Congenital Muscular Dystrophy

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

idCompoundScoreTop Affiliating Genes
1creatinine448.6ITGA7, FKRP, LMNA, LAMA2

GO Terms for genes affiliated with Congenital Muscular Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1collagen type VIGO:0055899.5COL6A3, COL6A1
2extracellular spaceGO:0056158.7COL6A2, COL6A3, FKRP, FKTN
3endoplasmic reticulum lumenGO:0057888.7COL6A1, COL6A3, COL6A2
4extracellular matrixGO:0310128.6LAMA2, COL6A1, COL6A3, COL6A2
5sarcolemmaGO:0423837.4COL6A2, COL6A3, COL6A1, ITGA7, FKRP, LAMA2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1regulation of cell migrationGO:0303349.8LMNA, LAMA2
2glycoprotein biosynthetic processGO:0091019.7FKRP, LARGE
3collagen catabolic processGO:0305749.1COL6A2, COL6A3, COL6A1
4protein heterotrimerizationGO:0702089.0COL6A2, COL6A1
5extracellular matrix disassemblyGO:0226179.0COL6A2, COL6A3, COL6A1
6axon guidanceGO:0074118.7LAMA2, COL6A1, COL6A3, COL6A2
7muscle organ developmentGO:0075178.5COL6A3, ITGA7, FKTN, LMNA, LAMA2
8cell adhesionGO:0071558.5LAMA2, COL6A1, COL6A3, COL6A2
9extracellular matrix organizationGO:0301988.0LAMA2, ITGA7, COL6A1, COL6A3, COL6A2

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

idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:0167409.7FKRP, FKTN

Products for genes affiliated with Congenital Muscular Dystrophy

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet