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 lama2-related muscular dystrophy 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 myositis

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 myositis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100614
3 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
4 respiratory failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002878
5 weak cry 58 31 hallmark (90%) Very frequent (99-80%) HP:0001612
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 increased connective tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0009025
10 absent muscle fiber merosin 58 31 hallmark (90%) Very frequent (99-80%) HP:0030091
11 muscle fiber atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100295
12 highly elevated creatine kinase 31 hallmark (90%) HP:0030234
13 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
14 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
15 flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001371
16 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
17 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
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 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
27 abnormality of visual evoked potentials 58 31 occasional (7.5%) Occasional (29-5%) HP:0000649
28 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
29 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
30 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
31 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
32 reduced tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001315
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 muscular hypotonia 58 Very frequent (99-80%)
49 seizures 58 Frequent (79-30%)
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 LAMA2 Retrospective Review of Medical Charts in Infants & Toddlers With LAMA2-CMD Not yet recruiting NCT04299321
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, Skin

Publications for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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

(show all 33)
# Title Authors PMID Year
1
LAMA2-Related Muscular Dystrophy 6
22675738 2012
2
Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders 6
22420014 2012
3
Consensus statement on standard of care for congenital muscular dystrophies. 6
21078917 2010
4
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 6
18700894 2008
5
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 6
16216942 2005
6
Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene. 6
12601554 2003
7
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 6
11591858 2001
8
Congenital Muscular Dystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301468 2001
9
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
10
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. 6
7550355 1995
11
Merosin-negative congenital muscular dystrophy: Report of five cases. 61
26962340 2015
12
Evaluation of one hundred pediatric muscle biopsies during a 2-year period in mofid children and toos hospitals. 61
24665292 2013
13
Merosin-deficient congenital muscular dystrophy type 1A. 61
18516331 2008
14
Brain MRI features of merosin-negative congenital muscular dystrophy. 61
17991069 2007
15
Merosin-negative congenital muscular dystrophy: diffusion-weighted imaging findings of brain. 61
17690079 2007
16
Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings. 61
15862197 2005
17
Merosin-deficient congenital muscular dystrophy in two siblings. 61
15591603 2004
18
Merosin negative congenital muscular dystrophy: a short report. 61
14652462 2003
19
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
20
Congenital muscular dystrophy in Israeli families. 61
12150578 2002
21
Nonmuscular involvement in merosin-negative congenital muscular dystrophy. 61
11814732 2002
22
A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy. 61
12184464 2001
23
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
24
Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept. 61
9796753 1998
25
Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy. 61
9255383 1997
26
Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter. 61
9185183 1997
27
Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities. 61
8938702 1996
28
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
29
Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report. 61
8733905 1996
30
Basement membrane abnormality in merosin-negative congenital muscular dystrophy. 61
8928608 1996
31
Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. 61
7501163 1995
32
Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy. 61
7643867 1995
33
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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAMA2 NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter)SNV Pathogenic 431964 rs762806915 6:129785516-129785516 6:129464371-129464371
2 LAMA2 NM_000426.3(LAMA2):c.397-4_478deldeletion Pathogenic 437434 rs1554217494 6:129419314-129419399 6:129098169-129098254
3 LAMA2 NM_000426.3(LAMA2):c.7452-1G>ASNV Pathogenic 437435 rs1554304931 6:129799837-129799837 6:129478692-129478692
4 LAMA2 NM_000426.3(LAMA2):c.3924+2T>CSNV Pathogenic 447685 rs1554269966 6:129637097-129637097 6:129315952-129315952
5 LAMA2 NM_000426.3(LAMA2):c.5234+1G>ASNV Pathogenic 447687 rs781376927 6:129712799-129712799 6:129391654-129391654
6 LAMA2 NM_000426.3(LAMA2):c.5866-2A>GSNV Pathogenic 477495 rs1554295204 6:129748895-129748895 6:129427750-129427750
7 LAMA2 NM_000426.3(LAMA2):c.7658del (p.Ser2553fs)deletion Pathogenic 477507 rs1293303410 6:129802493-129802493 6:129481348-129481348
8 LAMA2 NM_000426.3(LAMA2):c.8155G>T (p.Glu2719Ter)SNV Pathogenic 500711 rs1289855948 6:129813539-129813539 6:129492394-129492394
9 LAMA2 NM_000426.3(LAMA2):c.939_940del (p.Cys314fs)deletion Pathogenic 477529 rs1209130981 6:129470153-129470154 6:129149008-129149009
10 LAMA2 NM_000426.3(LAMA2):c.1300C>T (p.Arg434Ter)SNV Pathogenic 477436 rs1374568851 6:129486814-129486814 6:129165669-129165669
11 LAMA2 NM_000426.3(LAMA2):c.2T>C (p.Met1Thr)SNV Pathogenic 477459 rs374403765 6:129204392-129204392 6:128883247-128883247
12 LAMA2 NM_000426.3(LAMA2):c.363C>A (p.Tyr121Ter)SNV Pathogenic 551699 rs535635043 6:129381008-129381008 6:129059863-129059863
13 LAMA2 NM_000426.3(LAMA2):c.2230C>T (p.Arg744Ter)SNV Pathogenic 554268 rs775676341 6:129588272-129588272 6:129267127-129267127
14 LAMA2 NM_000426.3(LAMA2):c.5156_5159del (p.Lys1719fs)deletion Pathogenic 551648 rs1554286963 6:129712717-129712720 6:129391572-129391575
15 LAMA2 NM_000426.3(LAMA2):c.3085C>T (p.Arg1029Ter)SNV Pathogenic 551522 rs145420388 6:129621928-129621928 6:129300783-129300783
16 LAMA2 NM_000426.3(LAMA2):c.7490_7493dup (p.Asp2498fs)duplication Pathogenic 558356 rs1480934961 6:129799874-129799875 6:129478729-129478730
17 LAMA2 NM_000426.3(LAMA2):c.1122del (p.Gly376fs)deletion Pathogenic 552820 rs1338860420 6:129475744-129475744 6:129154599-129154599
18 LAMA2 NM_000426.3(LAMA2):c.3955C>T (p.Arg1319Ter)SNV Pathogenic 623353 rs1180309541 6:129637213-129637213 6:129316068-129316068
19 LAMA2 NM_000426.4(LAMA2):c.3329del (p.Leu1110fs)deletion Pathogenic 802262 6:129634160-129634160 6:129313015-129313015
20 LAMA2 NM_000426.4(LAMA2):c.3560_3561CT[1] (p.Leu1188fs)short repeat Pathogenic 802263 6:129636625-129636626 6:129315480-129315481
21 LAMA2 NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs)duplication Pathogenic 802264 6:129687383-129687384 6:129366238-129366239
22 LAMA2 NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter)SNV Pathogenic 802265 6:129691112-129691112 6:129369967-129369967
23 LAMA2 NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter)SNV Pathogenic 802266 6:129762071-129762071 6:129440926-129440926
24 LAMA2 LAMA2, IVS30, A-T, -2SNV Pathogenic 14289
25 LAMA2 LAMA2, 1-BP DEL, 8314Adeletion Pathogenic 14292
26 LAMA2 NM_000426.3(LAMA2):c.7691T>C (p.Leu2564Pro)SNV Pathogenic 14294 rs121913570 6:129802526-129802526 6:129481381-129481381
27 LAMA2 LAMA2, 2-BP DEL, 2098AGdeletion Pathogenic 14295
28 LAMA2 NM_000426.3(LAMA2):c.7732C>T (p.Arg2578Ter)SNV Pathogenic 14296 rs121913572 6:129802567-129802567 6:129481422-129481422
29 LAMA2 NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter)SNV Pathogenic 14299 rs121913575 6:129674430-129674430 6:129353285-129353285
30 LAMA2 NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter)SNV Pathogenic 14300 rs121913576 6:129785589-129785589 6:129464444-129464444
31 LAMA2 NM_000426.3(LAMA2):c.2901C>A (p.Cys967Ter)SNV Pathogenic 14301 rs121913577 6:129618874-129618874 6:129297729-129297729
32 LAMA2 NM_000426.3(LAMA2):c.825del (p.Tyr276fs)deletion Pathogenic 14302 rs1562275792 6:129468109-129468109 6:129146964-129146964
33 LAMA2 NM_000426.3(LAMA2):c.7750-1713_7899-2153deldeletion Pathogenic 14303 6:129805906-129810893 6:129484761-129489748
34 LAMA2 NM_001079823.2(LAMA2):c.1854_1861dup (p.Leu621fs)duplication Pathogenic 38339 rs202247791 6:129571327-129571328 6:129250182-129250183
35 LAMA2 NM_001079823.2(LAMA2):c.4959+1deldeletion Pathogenic 689487 6:129691134-129691134 6:129369989-129369989
36 LAMA2 NM_000426.3(LAMA2):c.1893_1897del (p.Asp631fs)deletion Pathogenic 800887 6:129573234-129573238 6:129252089-129252093
37 LAMA2 NM_000426.4(LAMA2):c.1255del (p.Ile419fs)deletion Pathogenic 802260 6:129486768-129486768 6:129165623-129165623
38 LAMA2 NM_000426.3(LAMA2):c.3630del (p.Ile1210fs)deletion Pathogenic 92954 rs398123372 6:129636694-129636694 6:129315549-129315549
39 LAMA2 NM_000426.3(LAMA2):c.3976C>T (p.Arg1326Ter)SNV Pathogenic 92956 rs398123373 6:129637234-129637234 6:129316089-129316089
40 LAMA2 NM_000426.3(LAMA2):c.5914C>T (p.Gln1972Ter)SNV Pathogenic 92971 rs398123378 6:129748945-129748945 6:129427800-129427800
41 LAMA2 NM_000426.3(LAMA2):c.6955C>T (p.Arg2319Ter)SNV Pathogenic 92980 rs398123383 6:129781432-129781432 6:129460287-129460287
42 LAMA2 NM_000426.3(LAMA2):c.2749+1G>CSNV Pathogenic 194920 rs759555791 6:129609204-129609204 6:129288059-129288059
43 LAMA2 NM_000426.3(LAMA2):c.5260del (p.Lys1753_Val1754insTer)deletion Pathogenic 196993 rs794727594 6:129714215-129714215 6:129393070-129393070
44 LAMA2 NM_000426.3(LAMA2):c.1303C>T (p.Arg435Ter)SNV Pathogenic 235805 rs773209126 6:129486817-129486817 6:129165672-129165672
45 LAMA2 NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter)SNV Pathogenic 287913 rs758775001 6:129712680-129712680 6:129391535-129391535
46 LAMA2 NM_000426.3(LAMA2):c.5476C>T (p.Arg1826Ter)SNV Pathogenic 265426 rs747349942 6:129722399-129722399 6:129401254-129401254
47 LAMA2 NM_000426.3(LAMA2):c.8665G>A (p.Gly2889Arg)SNV Pathogenic 266017 rs886039896 6:129826462-129826462 6:129505317-129505317
48 LAMA2 NM_000426.3(LAMA2):c.3799_3821del (p.Phe1267fs)deletion Pathogenic 280520 rs750220830 6:129636968-129636990 6:129315823-129315845
49 LAMA2 NM_000426.3(LAMA2):c.396+1G>TSNV Pathogenic 282977 rs770617208 6:129381042-129381042 6:129059897-129059897
50 LAMA2 NM_000426.3(LAMA2):c.4048C>T (p.Arg1350Ter)SNV Pathogenic 284984 rs756854513 6:129637306-129637306 6:129316161-129316161

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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