MCID: LMN012
MIFTS: 35

Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

MalaCards integrated aliases for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

Name: Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy 58
Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency 58
Merosin-Negative Congenital Muscular Dystrophy 58
Congenital Muscular Dystrophy Type 1a 58
Cmd1a 58
Mdc1a 58

Characteristics:

Orphanet epidemiological data:

58
laminin subunit alpha 2-related congenital muscular dystrophy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: adolescent,late childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

MalaCards based summary : Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy, also known as congenital muscular dystrophy due to laminin alpha2 deficiency, is related to congenital muscular dystrophy type 1a and cardiomyopathy, dilated, 1a. An important gene associated with Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy is LAMA2 (Laminin Subunit Alpha 2). Affiliated tissues include brain, tongue and skeletal muscle, and related phenotypes are gastroesophageal reflux and motor delay

Related Diseases for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Graphical network of the top 20 diseases related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:



Diseases related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Symptoms & Phenotypes for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Human phenotypes related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
2 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
3 respiratory failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002878
4 weak cry 58 31 hallmark (90%) Very frequent (99-80%) HP:0001612
5 myositis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100614
6 congenital muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003741
7 inability to walk 58 31 hallmark (90%) Very frequent (99-80%) HP:0002540
8 hypokinesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002375
9 muscle fiber atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100295
10 increased connective tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0009025
11 absent muscle fiber merosin 58 31 hallmark (90%) Very frequent (99-80%) HP:0030091
12 highly elevated creatine kinase 31 hallmark (90%) HP:0030234
13 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
14 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
15 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
16 flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001371
17 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
18 impaired mastication 58 31 frequent (33%) Frequent (79-30%) HP:0005216
19 aspiration 58 31 frequent (33%) Frequent (79-30%) HP:0002835
20 abnormality of the temporomandibular joint 58 31 frequent (33%) Frequent (79-30%) HP:0010754
21 cerebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0002181
22 astrocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0002446
23 recurrent lower respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0002783
24 abnormal brainstem mri signal intensity 58 31 frequent (33%) Frequent (79-30%) HP:0012747
25 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
26 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
27 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
28 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
29 abnormality of visual evoked potentials 58 31 occasional (7.5%) Occasional (29-5%) HP:0000649
30 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
31 reduced tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001315
32 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
33 open mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000194
34 protruding tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0010808
35 atelectasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100750
36 decreased body weight 58 31 occasional (7.5%) Occasional (29-5%) HP:0004325
37 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
38 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
39 reduced ejection fraction 58 31 occasional (7.5%) Occasional (29-5%) HP:0012664
40 focal-onset seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0007359
41 sensorimotor neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007141
42 myopathic facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0002058
43 hypoventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002791
44 intercostal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0004878
45 pontocerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006879
46 generalized non-motor (absence) seizure 31 occasional (7.5%) HP:0002121
47 pulmonary arterial hypertension 58 31 very rare (1%) Very rare (<4-1%) HP:0002092
48 seizures 58 Frequent (79-30%)
49 muscular hypotonia 58 Very frequent (99-80%)
50 muscle weakness 58 Very frequent (99-80%)

Drugs & Therapeutics for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Natural History of Patients With Congenital Muscular Dystrophies Due to Mutations in the SELENON or LAMA2 Genes: Working Towards Trial-readiness in Two Mitochondrial Myopathy Mimics Recruiting NCT04478981
2 A LAMA2-related Muscular Dystrophy Study: Brain Magnetic Resonance Imaging (MRI)and Brain Electrophysiology Evaluation Withdrawn NCT01952028

Search NIH Clinical Center for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Genetic Tests for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Anatomical Context for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

MalaCards organs/tissues related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

40
Brain, Tongue, Skeletal Muscle

Publications for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Articles related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

(show all 30)
# Title Authors PMID Year
1
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient. 6
26104111 2016
2
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 6
18700894 2008
3
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 6
16216942 2005
4
Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene. 6
12601554 2003
5
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 6
11591858 2001
6
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. 6
9541105 1998
7
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. 6
7550355 1995
8
Merosin-negative congenital muscular dystrophy: Report of five cases. 61
26962340 2015
9
Evaluation of one hundred pediatric muscle biopsies during a 2-year period in mofid children and toos hospitals. 61
24665292 2013
10
Merosin-deficient congenital muscular dystrophy type 1A. 61
18516331 2008
11
Brain MRI features of merosin-negative congenital muscular dystrophy. 61
17991069 2007
12
Merosin-negative congenital muscular dystrophy: diffusion-weighted imaging findings of brain. 61
17690079 2007
13
Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings. 61
15862197 2005
14
Merosin-deficient congenital muscular dystrophy in two siblings. 61
15591603 2004
15
Merosin negative congenital muscular dystrophy: a short report. 61
14652462 2003
16
Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies. 61
12812755 2003
17
Congenital muscular dystrophy in Israeli families. 61
12150578 2002
18
Nonmuscular involvement in merosin-negative congenital muscular dystrophy. 61
11814732 2002
19
A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy. 61
12184464 2001
20
Expression of laminin alpha1, alpha2, alpha4, and alpha5 chains, fibronectin, and tenascin-C in skeletal muscle of dystrophic 129ReJ dy/dy mice. 61
9882526 1999
21
Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept. 61
9796753 1998
22
Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy. 61
9255383 1997
23
Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter. 61
9185183 1997
24
Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities. 61
8938702 1996
25
Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. 61
8879653 1996
26
Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report. 61
8733905 1996
27
Basement membrane abnormality in merosin-negative congenital muscular dystrophy. 61
8928608 1996
28
Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. 61
7501163 1995
29
Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy. 61
7643867 1995
30
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. 61
7833925 1994

Variations for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

ClinVar genetic disease variations for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

6 (show top 50) (show all 354)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAMA2 LAMA2, 1-BP DEL, 8314A Deletion Pathogenic 14292
2 LAMA2 NM_000426.3(LAMA2):c.7691T>C (p.Leu2564Pro) SNV Pathogenic 14294 rs121913570 6:129802526-129802526 6:129481381-129481381
3 LAMA2 LAMA2, 2-BP DEL, 2098AG Deletion Pathogenic 14295
4 LAMA2 NM_000426.3(LAMA2):c.2901C>A (p.Cys967Ter) SNV Pathogenic 14301 rs121913577 6:129618874-129618874 6:129297729-129297729
5 LAMA2 NM_000426.3(LAMA2):c.825del (p.Tyr276fs) Deletion Pathogenic 14302 rs1562275792 6:129468109-129468109 6:129146964-129146964
6 LAMA2 NM_000426.3(LAMA2):c.7750-1713_7899-2153del Deletion Pathogenic 14303 6:129805906-129810893 6:129484761-129489748
7 LAMA2 NM_001079823.2(LAMA2):c.1854_1861dup (p.Leu621fs) Duplication Pathogenic 38339 rs202247791 6:129571327-129571328 6:129250182-129250183
8 LAMA2 NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro) SNV Pathogenic 190218 rs186538779 6:129601216-129601216 6:129280071-129280071
9 LAMA2 LAMA2, IVS30, A-T, -2 SNV Pathogenic 14289
10 LAMA2 NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter) SNV Pathogenic 14300 rs121913576 6:129785589-129785589 6:129464444-129464444
11 LAMA2 NM_000426.4(LAMA2):c.2045_2046AG[2] (p.Arg683fs) Microsatellite Pathogenic 38340 rs202247790 6:129573393-129573394 6:129252244-129252245
12 LAMA2 NM_000426.3(LAMA2):c.8665G>A (p.Gly2889Arg) SNV Pathogenic 266017 rs886039896 6:129826462-129826462 6:129505317-129505317
13 LAMA2 NM_000426.3(LAMA2):c.4048C>T (p.Arg1350Ter) SNV Pathogenic 284984 rs756854513 6:129637306-129637306 6:129316161-129316161
14 LAMA2 NM_000426.3(LAMA2):c.7452-1G>A SNV Pathogenic 437435 rs1554304931 6:129799837-129799837 6:129478692-129478692
15 LAMA2 NM_000426.3(LAMA2):c.397-4_478del Deletion Pathogenic 437434 rs1554217494 6:129419314-129419399 6:129098169-129098254
16 LAMA2 NM_000426.3(LAMA2):c.3085C>T (p.Arg1029Ter) SNV Pathogenic 551522 rs145420388 6:129621928-129621928 6:129300783-129300783
17 LAMA2 NM_000426.3(LAMA2):c.5156_5159del (p.Lys1719fs) Deletion Pathogenic 551648 rs1554286963 6:129712717-129712720 6:129391572-129391575
18 LAMA2 NM_000426.3(LAMA2):c.363C>A (p.Tyr121Ter) SNV Pathogenic 551699 rs535635043 6:129381008-129381008 6:129059863-129059863
19 LAMA2 NM_000426.3(LAMA2):c.1122del (p.Gly376fs) Deletion Pathogenic 552820 rs1338860420 6:129475744-129475744 6:129154599-129154599
20 LAMA2 NM_000426.3(LAMA2):c.2230C>T (p.Arg744Ter) SNV Pathogenic 554268 rs775676341 6:129588272-129588272 6:129267127-129267127
21 LAMA2 NM_000426.3(LAMA2):c.3799_3821del (p.Phe1267fs) Deletion Pathogenic 280520 rs750220830 6:129636968-129636990 6:129315823-129315845
22 LAMA2 NM_000426.3(LAMA2):c.1303C>T (p.Arg435Ter) SNV Pathogenic 235805 rs773209126 6:129486817-129486817 6:129165672-129165672
23 LAMA2 NM_000426.3(LAMA2):c.7490_7493dup (p.Asp2498fs) Duplication Pathogenic 558356 rs1480934961 6:129799874-129799875 6:129478729-129478730
24 LAMA2 NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter) SNV Pathogenic 14299 rs121913575 6:129674430-129674430 6:129353285-129353285
25 LAMA2 NM_000426.3(LAMA2):c.3955C>T (p.Arg1319Ter) SNV Pathogenic 623353 rs1180309541 6:129637213-129637213 6:129316068-129316068
26 LAMA2 NM_000426.4(LAMA2):c.3329del (p.Leu1110fs) Deletion Pathogenic 802262 rs1583470073 6:129634160-129634160 6:129313015-129313015
27 LAMA2 NM_000426.4(LAMA2):c.3560_3561CT[1] (p.Leu1188fs) Microsatellite Pathogenic 802263 rs1583475938 6:129636625-129636626 6:129315480-129315481
28 LAMA2 NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) Duplication Pathogenic 802264 rs1392196900 6:129687383-129687384 6:129366238-129366239
29 LAMA2 NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter) SNV Pathogenic 802265 rs748541803 6:129691112-129691112 6:129369967-129369967
30 LAMA2 NM_000426.3(LAMA2):c.5234+1G>A SNV Pathogenic 447687 rs781376927 6:129712799-129712799 6:129391654-129391654
31 LAMA2 NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter) SNV Pathogenic 802266 rs1583756552 6:129762071-129762071 6:129440926-129440926
32 LAMA2 NM_000426.3(LAMA2):c.3630del (p.Ile1210fs) Deletion Pathogenic 92954 rs398123372 6:129636694-129636694 6:129315549-129315549
33 LAMA2 NM_000426.4(LAMA2):c.1255del (p.Ile419fs) Deletion Pathogenic 802260 rs1185229314 6:129486768-129486768 6:129165623-129165623
34 LAMA2 NM_001079823.2(LAMA2):c.4959+1del Deletion Pathogenic 689487 rs1583591577 6:129691134-129691134 6:129369989-129369989
35 LAMA2 NM_000426.3(LAMA2):c.3924+2T>C SNV Pathogenic 447685 rs1554269966 6:129637097-129637097 6:129315952-129315952
36 LAMA2 NM_000426.4(LAMA2):c.3976C>T SNV Pathogenic 92956 rs398123373 6:129637234-129637234 6:129316089-129316089
37 LAMA2 NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter) SNV Pathogenic 287913 rs758775001 6:129712680-129712680 6:129391535-129391535
38 LAMA2 NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter) SNV Pathogenic 431964 rs762806915 6:129785516-129785516 6:129464371-129464371
39 LAMA2 NM_000426.4(LAMA2):c.7732C>T SNV Pathogenic 14296 rs121913572 6:129802567-129802567 6:129481422-129481422
40 LAMA2 NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer) Deletion Pathogenic 984699 6:129486776-129486776 6:129165631-129165631
41 LAMA2 NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter) SNV Pathogenic 988020 6:129588259-129588259 6:129267114-129267114
42 LAMA2 NM_000426.4(LAMA2):c.7732C>T SNV Pathogenic 14296 rs121913572 6:129802567-129802567 6:129481422-129481422
43 LAMA2 NM_000426.4(LAMA2):c.3976C>T SNV Pathogenic 92956 rs398123373 6:129637234-129637234 6:129316089-129316089
44 LAMA2 NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter) SNV Pathogenic 287913 rs758775001 6:129712680-129712680 6:129391535-129391535
45 LAMA2 NM_000426.3(LAMA2):c.6488del (p.Lys2163fs) Deletion Pathogenic 265332 rs886039482 6:129774190-129774190 6:129453045-129453045
46 LAMA2 NM_000426.3(LAMA2):c.8244+1G>A SNV Pathogenic 550992 rs749522728 6:129813629-129813629 6:129492484-129492484
47 LAMA2 NM_000426.3(LAMA2):c.1893_1897del (p.Asp631fs) Deletion Pathogenic 800887 rs746844753 6:129573234-129573238 6:129252089-129252093
48 LAMA2 NM_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter) SNV Pathogenic/Likely pathogenic 162579 rs727502851 6:129807757-129807757 6:129486612-129486612
49 LAMA2 NM_001079823.2(LAMA2):c.2556del (p.Phe852fs) Deletion Pathogenic/Likely pathogenic 477455 rs750731624 6:129609007-129609007 6:129287862-129287862
50 LAMA2 NM_000426.3(LAMA2):c.9253C>T (p.Arg3085Ter) SNV Pathogenic/Likely pathogenic 14291 rs121913571 6:129837376-129837376 6:129516231-129516231

Expression for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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Pathways for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

GO Terms for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Sources for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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