MCID: CNG112
MIFTS: 31

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 54
Merosin-Deficient Congenital Muscular Dystrophy 54 38
Merosin Deficient Congenital Muscular Dystrophy 30 6
Muscular Dystrophy, Congenital, Merosin-Deficient 54
Muscular Dystrophy Congenital, Merosin Negative 74
Merosin-Negative Congenital Muscular Dystrophy 54
Lama2-Related Muscular Dystrophy 54
Laminin Alpha-2 Deficiency 54
Mdc1a 54

Classifications:



Summaries for Congenital Muscular Dystrophy Type 1a

NIH Rare Diseases : 54 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, brain and tongue, and related phenotypes are gastroesophageal reflux and inability to walk

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 15)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital merosin-deficient, 1a 11.8
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 epilepsy 10.3
7 diabetes mellitus 10.3
8 walker-warburg syndrome 10.3
9 peripheral nervous system disease 10.3
10 myocarditis 10.3
11 polymicrogyria 10.3
12 muscle disorders 10.2
13 myopathy 10.2
14 collagen vi-related myopathy 10.2
15 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:

33 (show all 47)
# Description HPO Frequency HPO Source Accession
1 gastroesophageal reflux 33 hallmark (90%) HP:0002020
2 inability to walk 33 hallmark (90%) HP:0002540
3 motor delay 33 hallmark (90%) HP:0001270
4 respiratory failure 33 hallmark (90%) HP:0002878
5 hypokinesia 33 hallmark (90%) HP:0002375
6 increased connective tissue 33 hallmark (90%) HP:0009025
7 weak cry 33 hallmark (90%) HP:0001612
8 myositis 33 hallmark (90%) HP:0100614
9 congenital muscular dystrophy 33 hallmark (90%) HP:0003741
10 muscle fiber atrophy 33 hallmark (90%) HP:0100295
11 absent muscle fiber merosin 33 hallmark (90%) HP:0030091
12 highly elevated creatine kinase 33 hallmark (90%) HP:0030234
13 intellectual disability 33 frequent (33%) HP:0001249
14 facial palsy 33 frequent (33%) HP:0010628
15 macroglossia 33 frequent (33%) HP:0000158
16 flexion contracture 33 frequent (33%) HP:0001371
17 emg abnormality 33 frequent (33%) HP:0003457
18 astrocytosis 33 frequent (33%) HP:0002446
19 abnormality of the temporomandibular joint 33 frequent (33%) HP:0010754
20 cerebral edema 33 frequent (33%) HP:0002181
21 abnormal brainstem mri signal intensity 33 frequent (33%) HP:0012747
22 recurrent lower respiratory tract infections 33 frequent (33%) HP:0002783
23 aspiration 33 frequent (33%) HP:0002835
24 impaired mastication 33 frequent (33%) HP:0005216
25 dysphagia 33 occasional (7.5%) HP:0002015
26 scoliosis 33 occasional (7.5%) HP:0002650
27 hyperlordosis 33 occasional (7.5%) HP:0003307
28 neonatal hypotonia 33 occasional (7.5%) HP:0001319
29 abnormality of visual evoked potentials 33 occasional (7.5%) HP:0000649
30 cognitive impairment 33 occasional (7.5%) HP:0100543
31 arrhythmia 33 occasional (7.5%) HP:0011675
32 cardiomyopathy 33 occasional (7.5%) HP:0001638
33 reduced tendon reflexes 33 occasional (7.5%) HP:0001315
34 absence seizure 33 occasional (7.5%) HP:0002121
35 focal-onset seizure 33 occasional (7.5%) HP:0007359
36 open mouth 33 occasional (7.5%) HP:0000194
37 protruding tongue 33 occasional (7.5%) HP:0010808
38 atelectasis 33 occasional (7.5%) HP:0100750
39 decreased body weight 33 occasional (7.5%) HP:0004325
40 pachygyria 33 occasional (7.5%) HP:0001302
41 myopathic facies 33 occasional (7.5%) HP:0002058
42 pontocerebellar atrophy 33 occasional (7.5%) HP:0006879
43 sensorimotor neuropathy 33 occasional (7.5%) HP:0007141
44 reduced ejection fraction 33 occasional (7.5%) HP:0012664
45 hypoventilation 33 occasional (7.5%) HP:0002791
46 intercostal muscle weakness 33 occasional (7.5%) HP:0004878
47 pulmonary arterial hypertension 33 very rare (1%) HP:0002092

Drugs & Therapeutics for Congenital Muscular Dystrophy Type 1a

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
2 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 30 LAMA2

Anatomical Context for Congenital Muscular Dystrophy Type 1a

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

42
Eye, Brain, Tongue, Skin, Skeletal Muscle, Bone

Publications for Congenital Muscular Dystrophy Type 1a

Articles related to Congenital Muscular Dystrophy Type 1a:

(show top 50) (show all 74)
# Title Authors Year
1
Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact study. ( 30389963 )
2018
2
Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy. ( 29763467 )
2018
3
Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy ( 29707938 )
2018
4
Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells. ( 28367954 )
2017
5
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism. ( 28714989 )
2017
6
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
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
Pressure-support ventilation in a child with merosin-deficient congenital muscular dystrophy under sevoflurane anesthesia. ( 29873469 )
2016
10
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient. ( 26104111 )
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
Congenital muscular dystrophy type 1A with residual merosin expression. ( 24778697 )
2014
14
Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy. ( 25124546 )
2014
15
Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy. ( 24604798 )
2014
16
A case series of general anesthesia in children with laminin alpha2 (merosin)-deficient congenital muscular dystrophy. ( 24628934 )
2014
17
Laminin-111 improves muscle repair in a mouse model of merosin-deficient congenital muscular dystrophy. ( 24009313 )
2014
18
Merosin-deficient congenital muscular dystrophy type 1A: A case report. ( 24223650 )
2013
19
Hemodynamic instability during prone spine surgery in a patient with merosin-deficient congenital muscular dystrophy. ( 23279697 )
2013
20
Merosin-deficient congenital muscular dystrophy (MDCMD): a case report with MRI, MRS and DTI findings. ( 23365711 )
2012
21
Orthognathic surgery and partial glossectomy in a patient with merosin-deficient congenital muscular dystrophy. ( 22260916 )
2012
22
Laminin-111 protein therapy reduces muscle pathology and improves viability of a mouse model of merosin-deficient congenital muscular dystrophy. ( 22322301 )
2012
23
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
24
Transgenic overexpression of the α7 integrin reduces muscle pathology and improves viability in the dy(W) mouse model of merosin-deficient congenital muscular dystrophy type 1A. ( 21652631 )
2011
25
Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy. ( 20303224 )
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
Consensus statement on standard of care for congenital muscular dystrophies. ( 21078917 )
2010
28
[Merosin-deficient congenital muscular dystrophy]. ( 20607928 )
2010
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 in Korea. ( 18723302 )
2009
32
Merosin-deficient congenital muscular dystrophy type 1A. ( 18516331 )
2008
33
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. ( 18700894 )
2008
34
Genetically confirmed patients with merosin-deficient congenital muscular dystrophy in China. ( 19294599 )
2008
35
Merosin-deficient congenital muscular dystrophy in an Omani boy. ( 21063346 )
2008
36
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. ( 16084089 )
2005
37
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. ( 16216942 )
2005
38
Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI. ( 15750812 )
2005
39
Merosin-deficient congenital muscular dystrophy in two siblings. ( 15591603 )
2004
40
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
41
Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene. ( 12601554 )
2003
42
Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy. ( 12661054 )
2003
43
Sternohyoid muscle fatigue properties of dy/dy dystrophic mice, an animal model of merosin-deficient congenital muscular dystrophy. ( 12840158 )
2003
44
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). ( 11938437 )
2002
45
Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy. ( 11297945 )
2001
46
Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. ( 11369186 )
2001
47
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. ( 11591858 )
2001
48
Myocarditis associated with parvovirus B19 infection in two siblings with merosin-deficient congenital muscular dystrophy. ( 10653351 )
2000
49
High resolution magnetic resonance imaging of the brain in the dy/dy mouse with merosin-deficient congenital muscular dystrophy. ( 10838257 )
2000
50
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. ( 11053680 )
2000

Variations for Congenital Muscular Dystrophy Type 1a

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

6 (show top 50) (show all 508)
# 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 LAMA2 NM_000426.3(LAMA2): c.825delC (p.Tyr276Thrfs) deletion Pathogenic GRCh37 Chromosome 6, 129468109: 129468109
19 LAMA2 NM_000426.3(LAMA2): c.825delC (p.Tyr276Thrfs) deletion Pathogenic GRCh38 Chromosome 6, 129146964: 129146964
20 LAMA2 NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987 deletion Pathogenic GRCh37 Chromosome 6, 129805906: 129810893
21 LAMA2 NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987 deletion Pathogenic GRCh38 Chromosome 6, 129484761: 129489748
22 LAMA2 NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs) duplication Pathogenic rs202247791 GRCh37 Chromosome 6, 129571328: 129571335
23 LAMA2 NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs) duplication Pathogenic rs202247791 GRCh38 Chromosome 6, 129250183: 129250190
24 LAMA2 NM_000426.3(LAMA2): c.2049_2050delAG (p.Arg683Serfs) deletion Conflicting interpretations of pathogenicity rs202247790 GRCh37 Chromosome 6, 129573393: 129573394
25 LAMA2 NM_000426.3(LAMA2): c.2049_2050delAG (p.Arg683Serfs) deletion Conflicting interpretations of pathogenicity rs202247790 GRCh38 Chromosome 6, 129252248: 129252249
26 LAMA2 NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln) single nucleotide variant Likely pathogenic rs202247792 GRCh37 Chromosome 6, 129807750: 129807750
27 LAMA2 NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln) single nucleotide variant Likely pathogenic rs202247792 GRCh38 Chromosome 6, 129486605: 129486605
28 LAMA2 NM_000426.3(LAMA2): c.3861C> T (p.Ile1287=) single nucleotide variant Likely benign rs138702650 GRCh37 Chromosome 6, 129637032: 129637032
29 LAMA2 NM_000426.3(LAMA2): c.3861C> T (p.Ile1287=) single nucleotide variant Likely benign rs138702650 GRCh38 Chromosome 6, 129315887: 129315887
30 LAMA2 NM_000426.3(LAMA2): c.3861C> T (p.Ile1287=) single nucleotide variant Likely benign rs138702650 NCBI36 Chromosome 6, 129678725: 129678725
31 LAMA2 NM_000426.3(LAMA2): c.112+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123367 GRCh37 Chromosome 6, 129204503: 129204503
32 LAMA2 NM_000426.3(LAMA2): c.112+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123367 GRCh38 Chromosome 6, 128883358: 128883358
33 LAMA2 NM_000426.3(LAMA2): c.156C> T (p.Ile52=) single nucleotide variant Benign/Likely benign rs1140366 GRCh37 Chromosome 6, 129371106: 129371106
34 LAMA2 NM_000426.3(LAMA2): c.156C> T (p.Ile52=) single nucleotide variant Benign/Likely benign rs1140366 GRCh38 Chromosome 6, 129049961: 129049961
35 LAMA2 NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter) single nucleotide variant Pathogenic rs398123368 GRCh37 Chromosome 6, 129371134: 129371134
36 LAMA2 NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter) single nucleotide variant Pathogenic rs398123368 GRCh38 Chromosome 6, 129049989: 129049989
37 LAMA2 NM_000426.3(LAMA2): c.1856G> A (p.Arg619His) single nucleotide variant Benign rs3816665 GRCh37 Chromosome 6, 129571330: 129571330
38 LAMA2 NM_000426.3(LAMA2): c.1856G> A (p.Arg619His) single nucleotide variant Benign rs3816665 GRCh38 Chromosome 6, 129250185: 129250185
39 LAMA2 NM_000426.3(LAMA2): c.2037G> C (p.Ala679=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123369 GRCh37 Chromosome 6, 129573381: 129573381
40 LAMA2 NM_000426.3(LAMA2): c.2037G> C (p.Ala679=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123369 GRCh38 Chromosome 6, 129252236: 129252236
41 LAMA2 NM_000426.3(LAMA2): c.2375T> C (p.Phe792Ser) single nucleotide variant Uncertain significance rs398123370 GRCh37 Chromosome 6, 129591821: 129591821
42 LAMA2 NM_000426.3(LAMA2): c.2375T> C (p.Phe792Ser) single nucleotide variant Uncertain significance rs398123370 GRCh38 Chromosome 6, 129270676: 129270676
43 LAMA2 NM_000426.3(LAMA2): c.2750-1G> C single nucleotide variant Pathogenic rs9492297 GRCh37 Chromosome 6, 129612758: 129612758
44 LAMA2 NM_000426.3(LAMA2): c.2750-1G> C single nucleotide variant Pathogenic rs9492297 GRCh38 Chromosome 6, 129291613: 129291613
45 LAMA2 NM_000426.3(LAMA2): c.2799A> G (p.Gln933=) single nucleotide variant Benign rs1027199 GRCh37 Chromosome 6, 129612808: 129612808
46 LAMA2 NM_000426.3(LAMA2): c.2799A> G (p.Gln933=) single nucleotide variant Benign rs1027199 GRCh38 Chromosome 6, 129291663: 129291663
47 LAMA2 NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123371 GRCh37 Chromosome 6, 129618935: 129618935
48 LAMA2 NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123371 GRCh38 Chromosome 6, 129297790: 129297790
49 LAMA2 NM_000426.3(LAMA2): c.3411+13G> A single nucleotide variant Benign rs3798663 GRCh37 Chromosome 6, 129634255: 129634255
50 LAMA2 NM_000426.3(LAMA2): c.3411+13G> A single nucleotide variant Benign rs3798663 GRCh38 Chromosome 6, 129313110: 129313110

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:

38
# 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
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10 dbSNP
11 DGIdb
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75 UMLS via Orphanet
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