MCID: CNG112
MIFTS: 35

Congenital Muscular Dystrophy Type 1a

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Muscular Dystrophy Type 1a

MalaCards integrated aliases for Congenital Muscular Dystrophy Type 1a:

Name: Congenital Muscular Dystrophy Type 1a 53
Merosin-Deficient Congenital Muscular Dystrophy 53 37
Merosin Deficient Congenital Muscular Dystrophy 29 6
Muscular Dystrophy, Congenital, Merosin-Deficient 53
Muscular Dystrophy Congenital, Merosin Negative 73
Merosin-Negative Congenital Muscular Dystrophy 53
Lama2-Related Muscular Dystrophy 53
Laminin Alpha-2 Deficiency 53
Mdc1a 53

Classifications:



Summaries for Congenital Muscular Dystrophy Type 1a

NIH Rare Diseases : 53 Congenital muscular dystrophy type 1A (MDC1A) belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by hypotonia, muscle weakness and muscle wasting. Other signs and symptoms include rigidity of the spine; scoliosis; and delayed, limited motor development, with most individuals needing assistive devices for mobility. Respiratory problems, feeding disorders and seizures may also occur. With time, affected individuals may develop an elongated face and ophthalmoplegia disorders (paralysis or weakness in muscles of the eye). Intellectual development is typically normal. The prognosis is poor, as many affected children do not reach adolescence. It is caused by mutations in the LAMA2 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and includes a multidisciplinary approach.

MalaCards based summary : Congenital Muscular Dystrophy Type 1a, also known as merosin-deficient congenital muscular dystrophy, is related to muscular dystrophy, congenital merosin-deficient, 1a and lama2-related muscular dystrophy. An important gene associated with Congenital Muscular Dystrophy Type 1a is LAMA2 (Laminin Subunit Alpha 2), and among its related pathways/superpathways is ECM-receptor interaction. Affiliated tissues include eye, bone and tongue, and related phenotypes are intellectual disability and dysphagia

Related Diseases for Congenital Muscular Dystrophy Type 1a

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital, Lmna-Related
Lama2-Related Muscular Dystrophy Congenital Muscular Dystrophy Due to Dystroglycanopathy
Congenital Muscular Dystrophy Type 1a

Diseases related to Congenital Muscular Dystrophy Type 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital merosin-deficient, 1a 11.3
2 lama2-related muscular dystrophy 11.3
3 muscular dystrophy, congenital, lmna-related 10.6
4 muscular dystrophy 10.6
5 neuropathy 10.4
6 myopathy 10.4
7 collagen vi-related myopathy 10.4
8 diabetes mellitus 10.3
9 walker-warburg syndrome 10.3
10 peripheral nervous system disease 10.3
11 myocarditis 10.3
12 polymicrogyria 10.3
13 epilepsy 10.3
14 leigh syndrome 10.1

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy Type 1a:



Diseases related to Congenital Muscular Dystrophy Type 1a

Symptoms & Phenotypes for Congenital Muscular Dystrophy Type 1a

Human phenotypes related to Congenital Muscular Dystrophy Type 1a:

32 (show all 45)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 frequent (33%) HP:0001249
2 dysphagia 32 occasional (7.5%) HP:0002015
3 scoliosis 32 occasional (7.5%) HP:0002650
4 hyperlordosis 32 occasional (7.5%) HP:0003307
5 facial palsy 32 frequent (33%) HP:0010628
6 macroglossia 32 frequent (33%) HP:0000158
7 neonatal hypotonia 32 occasional (7.5%) HP:0001319
8 abnormality of visual evoked potentials 32 occasional (7.5%) HP:0000649
9 flexion contracture 32 frequent (33%) HP:0001371
10 gastroesophageal reflux 32 hallmark (90%) HP:0002020
11 cognitive impairment 32 occasional (7.5%) HP:0100543
12 arrhythmia 32 occasional (7.5%) HP:0011675
13 pulmonary arterial hypertension 32 very rare (1%) HP:0002092
14 cardiomyopathy 32 occasional (7.5%) HP:0001638
15 inability to walk 32 hallmark (90%) HP:0002540
16 motor delay 32 hallmark (90%) HP:0001270
17 absence seizures 32 occasional (7.5%) HP:0002121
18 respiratory failure 32 hallmark (90%) HP:0002878
19 open mouth 32 occasional (7.5%) HP:0000194
20 protruding tongue 32 occasional (7.5%) HP:0010808
21 atelectasis 32 occasional (7.5%) HP:0100750
22 decreased body weight 32 occasional (7.5%) HP:0004325
23 pachygyria 32 occasional (7.5%) HP:0001302
24 weak cry 32 hallmark (90%) HP:0001612
25 hypokinesia 32 hallmark (90%) HP:0002375
26 congenital muscular dystrophy 32 hallmark (90%) HP:0003741
27 increased connective tissue 32 hallmark (90%) HP:0009025
28 absent muscle fiber merosin 32 hallmark (90%) HP:0030091
29 highly elevated creatine phosphokinase 32 hallmark (90%) HP:0030234
30 muscle fiber atrophy 32 hallmark (90%) HP:0100295
31 myositis 32 hallmark (90%) HP:0100614
32 cerebral edema 32 frequent (33%) HP:0002181
33 astrocytosis 32 frequent (33%) HP:0002446
34 recurrent lower respiratory tract infections 32 frequent (33%) HP:0002783
35 aspiration 32 frequent (33%) HP:0002835
36 abnormality of the temporomandibular joint 32 frequent (33%) HP:0010754
37 abnormal brainstem mri signal intensity 32 frequent (33%) HP:0012747
38 myopathic facies 32 occasional (7.5%) HP:0002058
39 hypoventilation 32 occasional (7.5%) HP:0002791
40 intercostal muscle weakness 32 occasional (7.5%) HP:0004878
41 pontocerebellar atrophy 32 occasional (7.5%) HP:0006879
42 sensorimotor neuropathy 32 occasional (7.5%) HP:0007141
43 reduced ejection fraction 32 occasional (7.5%) HP:0012664
44 focal-onset seizure 32 occasional (7.5%) HP:0007359
45 impaired mastication 32 frequent (33%) HP:0005216

Drugs & Therapeutics for Congenital Muscular Dystrophy Type 1a

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 LAMA2-related Muscular Dystrophy Brain Study Withdrawn NCT01952028

Search NIH Clinical Center for Congenital Muscular Dystrophy Type 1a

Genetic Tests for Congenital Muscular Dystrophy Type 1a

Genetic tests related to Congenital Muscular Dystrophy Type 1a:

# Genetic test Affiliating Genes
1 Merosin Deficient Congenital Muscular Dystrophy 29 LAMA2

Anatomical Context for Congenital Muscular Dystrophy Type 1a

MalaCards organs/tissues related to Congenital Muscular Dystrophy Type 1a:

41
Eye, Bone, Tongue, Brain, Skin, Skeletal Muscle

Publications for Congenital Muscular Dystrophy Type 1a

Articles related to Congenital Muscular Dystrophy Type 1a:

(show top 50) (show all 68)
# Title Authors Year
1
Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact study. ( 30389963 )
2018
2
Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy ( 29707938 )
2018
3
Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy. ( 29763467 )
2018
4
Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report. ( 28804634 )
2017
5
Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells. ( 28367954 )
2017
6
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism. ( 28714989 )
2017
7
A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy. ( 28241031 )
2017
8
Impaired fetal muscle development and JAK-STAT activation mark disease onset and progression in a mouse model for merosin-deficient congenital muscular dystrophy. ( 28334989 )
2017
9
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient. ( 26104111 )
2016
10
Pressure-support ventilation in a child with merosin-deficient congenital muscular dystrophy under sevoflurane anesthesia. ( 29873469 )
2016
11
Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A. ( 26347253 )
2015
12
Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene. ( 26249246 )
2015
13
Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy. ( 25124546 )
2014
14
Laminin-111 improves muscle repair in a mouse model of merosin-deficient congenital muscular dystrophy. ( 24009313 )
2014
15
Congenital muscular dystrophy type 1A with residual merosin expression. ( 24778697 )
2014
16
Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy. ( 24604798 )
2014
17
A case series of general anesthesia in children with laminin alpha2 (merosin)-deficient congenital muscular dystrophy. ( 24628934 )
2014
18
Hemodynamic instability during prone spine surgery in a patient with merosin-deficient congenital muscular dystrophy. ( 23279697 )
2013
19
Merosin-deficient congenital muscular dystrophy type 1A: A case report. ( 24223650 )
2013
20
Laminin-111 protein therapy reduces muscle pathology and improves viability of a mouse model of merosin-deficient congenital muscular dystrophy. ( 22322301 )
2012
21
Orthognathic surgery and partial glossectomy in a patient with merosin-deficient congenital muscular dystrophy. ( 22260916 )
2012
22
Merosin-deficient congenital muscular dystrophy (MDCMD): a case report with MRI, MRS and DTI findings. ( 23365711 )
2012
23
Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy. ( 20303224 )
2011
24
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
25
Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2Dy-w mice, a model for congenital muscular dystrophy type 1A. ( 21441569 )
2011
26
Improved muscle strength and mobility in the dy(2J)/dy(2J) mouse with merosin deficient congenital muscular dystrophy treated with Glatiramer acetate. ( 20304648 )
2010
27
[Merosin-deficient congenital muscular dystrophy]. ( 20607928 )
2010
28
Merosin-deficient congenital muscular dystrophy in Korea. ( 18723302 )
2009
29
Intrinsic laryngeal muscles are spared from degeneration in the dy3K/dy3K mouse model of congenital muscular dystrophy type 1A. ( 19086066 )
2009
30
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression. ( 18406646 )
2009
31
Merosin-deficient congenital muscular dystrophy type 1A. ( 18516331 )
2008
32
Genetically confirmed patients with merosin-deficient congenital muscular dystrophy in China. ( 19294599 )
2008
33
Merosin-deficient congenital muscular dystrophy in an Omani boy. ( 21063346 )
2008
34
Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI. ( 15750812 )
2005
35
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. ( 16084089 )
2005
36
Merosin-deficient congenital muscular dystrophy in two siblings. ( 15591603 )
2004
37
Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy. ( 12661054 )
2003
38
Sternohyoid muscle fatigue properties of dy/dy dystrophic mice, an animal model of merosin-deficient congenital muscular dystrophy. ( 12840158 )
2003
39
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients. ( 12467726 )
2003
40
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). ( 11938437 )
2002
41
Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. ( 11369186 )
2001
42
Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy. ( 11297945 )
2001
43
High resolution magnetic resonance imaging of the brain in the dy/dy mouse with merosin-deficient congenital muscular dystrophy. ( 10838257 )
2000
44
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. ( 11053680 )
2000
45
Merosin-deficient congenital muscular dystrophy: neuropathology case reports. ( 12067464 )
2000
46
Myocarditis associated with parvovirus B19 infection in two siblings with merosin-deficient congenital muscular dystrophy. ( 10653351 )
2000
47
Limitation of eye movement in merosin-deficient congenital muscular dystrophy. ( 9929033 )
1999
48
MR imaging findings in children with merosin-deficient congenital muscular dystrophy. ( 10094364 )
1999
49
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. ( 10220862 )
1999
50
Feeding problems in merosin deficient congenital muscular dystrophy. ( 10332004 )
1999

Variations for Congenital Muscular Dystrophy Type 1a

ClinVar genetic disease variations for Congenital Muscular Dystrophy Type 1a:

6 (show top 50) (show all 489)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMA2 LAMA2, IVS30, A-T, -2 single nucleotide variant Pathogenic
2 LAMA2 NM_000426.3(LAMA2): c.3718C> T (p.Gln1240Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913569 GRCh37 Chromosome 6, 129636783: 129636783
3 LAMA2 NM_000426.3(LAMA2): c.3718C> T (p.Gln1240Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913569 GRCh38 Chromosome 6, 129315638: 129315638
4 LAMA2 NM_000426.3(LAMA2): c.9253C> T (p.Arg3085Ter) single nucleotide variant Uncertain significance rs121913571 GRCh37 Chromosome 6, 129837376: 129837376
5 LAMA2 NM_000426.3(LAMA2): c.9253C> T (p.Arg3085Ter) single nucleotide variant Uncertain significance rs121913571 GRCh38 Chromosome 6, 129516231: 129516231
6 LAMA2 LAMA2, 1-BP DEL, 8314A deletion Pathogenic
7 LAMA2 NM_000426.3(LAMA2): c.7691T> C (p.Leu2564Pro) single nucleotide variant Pathogenic rs121913570 GRCh37 Chromosome 6, 129802526: 129802526
8 LAMA2 NM_000426.3(LAMA2): c.7691T> C (p.Leu2564Pro) single nucleotide variant Pathogenic rs121913570 GRCh38 Chromosome 6, 129481381: 129481381
9 LAMA2 LAMA2, 2-BP DEL, 2098AG deletion Pathogenic
10 LAMA2 NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter) single nucleotide variant Pathogenic rs121913572 GRCh37 Chromosome 6, 129802567: 129802567
11 LAMA2 NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter) single nucleotide variant Pathogenic rs121913572 GRCh38 Chromosome 6, 129481422: 129481422
12 LAMA2 NM_000426.3(LAMA2): c.4645C> T (p.Arg1549Ter) single nucleotide variant Pathogenic rs121913575 GRCh37 Chromosome 6, 129674430: 129674430
13 LAMA2 NM_000426.3(LAMA2): c.4645C> T (p.Arg1549Ter) single nucleotide variant Pathogenic rs121913575 GRCh38 Chromosome 6, 129353285: 129353285
14 LAMA2 NM_000426.3(LAMA2): c.7147C> T (p.Arg2383Ter) single nucleotide variant Pathogenic rs121913576 GRCh37 Chromosome 6, 129785589: 129785589
15 LAMA2 NM_000426.3(LAMA2): c.7147C> T (p.Arg2383Ter) single nucleotide variant Pathogenic rs121913576 GRCh38 Chromosome 6, 129464444: 129464444
16 LAMA2 NM_000426.3(LAMA2): c.2901C> A (p.Cys967Ter) single nucleotide variant Pathogenic rs121913577 GRCh37 Chromosome 6, 129618874: 129618874
17 LAMA2 NM_000426.3(LAMA2): c.2901C> A (p.Cys967Ter) single nucleotide variant Pathogenic rs121913577 GRCh38 Chromosome 6, 129297729: 129297729
18 LAMA1; LAMA2 LAMA, 1-BP DEL, 825C deletion Pathogenic
19 LAMA2 NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987 deletion Pathogenic GRCh37 Chromosome 6, 129805906: 129810893
20 LAMA2 NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987 deletion Pathogenic GRCh38 Chromosome 6, 129484761: 129489748
21 LAMA2 NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs) duplication Pathogenic rs202247791 GRCh37 Chromosome 6, 129571328: 129571335
22 LAMA2 NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs) duplication Pathogenic rs202247791 GRCh38 Chromosome 6, 129250183: 129250190
23 LAMA2 NM_000426.3(LAMA2): c.2049_2050delAG (p.Arg683Serfs) deletion Conflicting interpretations of pathogenicity rs202247790 GRCh37 Chromosome 6, 129573393: 129573394
24 LAMA2 NM_000426.3(LAMA2): c.2049_2050delAG (p.Arg683Serfs) deletion Conflicting interpretations of pathogenicity rs202247790 GRCh38 Chromosome 6, 129252248: 129252249
25 LAMA2 NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln) single nucleotide variant Likely pathogenic rs202247792 GRCh37 Chromosome 6, 129807750: 129807750
26 LAMA2 NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln) single nucleotide variant Likely pathogenic rs202247792 GRCh38 Chromosome 6, 129486605: 129486605
27 LAMA2 NM_000426.3(LAMA2): c.3861C> T (p.Ile1287=) single nucleotide variant Likely benign rs138702650 GRCh37 Chromosome 6, 129637032: 129637032
28 LAMA2 NM_000426.3(LAMA2): c.3861C> T (p.Ile1287=) single nucleotide variant Likely benign rs138702650 GRCh38 Chromosome 6, 129315887: 129315887
29 LAMA2 NM_000426.3(LAMA2): c.3861C> T (p.Ile1287=) single nucleotide variant Likely benign rs138702650 NCBI36 Chromosome 6, 129678725: 129678725
30 LAMA2 NM_000426.3(LAMA2): c.112+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123367 GRCh37 Chromosome 6, 129204503: 129204503
31 LAMA2 NM_000426.3(LAMA2): c.112+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123367 GRCh38 Chromosome 6, 128883358: 128883358
32 LAMA2 NM_000426.3(LAMA2): c.156C> T (p.Ile52=) single nucleotide variant Benign/Likely benign rs1140366 GRCh37 Chromosome 6, 129371106: 129371106
33 LAMA2 NM_000426.3(LAMA2): c.156C> T (p.Ile52=) single nucleotide variant Benign/Likely benign rs1140366 GRCh38 Chromosome 6, 129049961: 129049961
34 LAMA2 NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter) single nucleotide variant Pathogenic rs398123368 GRCh37 Chromosome 6, 129371134: 129371134
35 LAMA2 NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter) single nucleotide variant Pathogenic rs398123368 GRCh38 Chromosome 6, 129049989: 129049989
36 LAMA2 NM_000426.3(LAMA2): c.1856G> A (p.Arg619His) single nucleotide variant Benign rs3816665 GRCh37 Chromosome 6, 129571330: 129571330
37 LAMA2 NM_000426.3(LAMA2): c.1856G> A (p.Arg619His) single nucleotide variant Benign rs3816665 GRCh38 Chromosome 6, 129250185: 129250185
38 LAMA2 NM_000426.3(LAMA2): c.2037G> C (p.Ala679=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123369 GRCh37 Chromosome 6, 129573381: 129573381
39 LAMA2 NM_000426.3(LAMA2): c.2037G> C (p.Ala679=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123369 GRCh38 Chromosome 6, 129252236: 129252236
40 LAMA2 NM_000426.3(LAMA2): c.2375T> C (p.Phe792Ser) single nucleotide variant Uncertain significance rs398123370 GRCh37 Chromosome 6, 129591821: 129591821
41 LAMA2 NM_000426.3(LAMA2): c.2375T> C (p.Phe792Ser) single nucleotide variant Uncertain significance rs398123370 GRCh38 Chromosome 6, 129270676: 129270676
42 LAMA2 NM_000426.3(LAMA2): c.2750-1G> C single nucleotide variant Pathogenic rs9492297 GRCh37 Chromosome 6, 129612758: 129612758
43 LAMA2 NM_000426.3(LAMA2): c.2750-1G> C single nucleotide variant Pathogenic rs9492297 GRCh38 Chromosome 6, 129291613: 129291613
44 LAMA2 NM_000426.3(LAMA2): c.2799A> G (p.Gln933=) single nucleotide variant Benign rs1027199 GRCh37 Chromosome 6, 129612808: 129612808
45 LAMA2 NM_000426.3(LAMA2): c.2799A> G (p.Gln933=) single nucleotide variant Benign rs1027199 GRCh38 Chromosome 6, 129291663: 129291663
46 LAMA2 NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123371 GRCh37 Chromosome 6, 129618935: 129618935
47 LAMA2 NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123371 GRCh38 Chromosome 6, 129297790: 129297790
48 LAMA2 NM_000426.3(LAMA2): c.3411+13G> A single nucleotide variant Benign rs3798663 GRCh37 Chromosome 6, 129634255: 129634255
49 LAMA2 NM_000426.3(LAMA2): c.3411+13G> A single nucleotide variant Benign rs3798663 GRCh38 Chromosome 6, 129313110: 129313110
50 LAMA2 NM_000426.3(LAMA2): c.3412G> A (p.Val1138Met) single nucleotide variant Benign/Likely benign rs2306942 GRCh37 Chromosome 6, 129635800: 129635800

Expression for Congenital Muscular Dystrophy Type 1a

Search GEO for disease gene expression data for Congenital Muscular Dystrophy Type 1a.

Pathways for Congenital Muscular Dystrophy Type 1a

Pathways related to Congenital Muscular Dystrophy Type 1a according to KEGG:

37
# Name Kegg Source Accession
1 ECM-receptor interaction hsa04512

GO Terms for Congenital Muscular Dystrophy Type 1a

Sources for Congenital Muscular Dystrophy Type 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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