Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LMN012 MIFTS: 30	Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy Categories: Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³³ G71.2

UMLS via Orphanet ⁷² C1263858

Orphanet ⁵⁸ ORPHA258

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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 intellectual disability and seizures

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

Diseases in the Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy family:

Laminin Subunit Alpha 2-Related Muscular Dystrophy

Diseases related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)

#	Related Disease	Score
1	lama2-related muscular dystrophy	12.3
2	cardiomyopathy, dilated, 1a	11.5
3	cardiomyopathy, dilated, 1l	11.3
4	muscular dystrophy, congenital merosin-deficient, 1a	11.2
5	muscular dystrophy, congenital, lmna-related	10.6
6	muscular dystrophy	10.6
7	polymicrogyria with or without vascular-type ehlers-danlos syndrome	10.4
8	polymicrogyria	10.4
9	muscular atrophy	10.3
10	canavan disease	10.3
11	lissencephaly	10.3
12	autosomal recessive disease	10.3
13	neuromuscular disease	10.3
14	cobblestone lissencephaly	10.3
15	atrial standstill 1	10.3
16	dilated cardiomyopathy	10.3
17	marfan syndrome	10.2
18	hypotonia	10.2
19	leigh syndrome	10.1
20	peripheral nervous system disease	10.1
21	neuropathy	10.1
22	progressive muscular dystrophy	10.1
23	neurometabolic disease	10.1

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

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

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

⁵⁸ (show top 50) (show all 54)

#	Description	Orphanet Frequency
1	intellectual disability ⁵⁸	Frequent (79-30%)
2	seizures ⁵⁸	Frequent (79-30%)
3	muscular hypotonia ⁵⁸	Very frequent (99-80%)
4	muscle weakness ⁵⁸	Very frequent (99-80%)
5	dysphagia ⁵⁸	Occasional (29-5%)
6	respiratory insufficiency ⁵⁸	Very rare (<4-1%)
7	scoliosis ⁵⁸	Occasional (29-5%)
8	hyperlordosis ⁵⁸	Occasional (29-5%)
9	facial palsy ⁵⁸	Frequent (79-30%)
10	macroglossia ⁵⁸	Frequent (79-30%)
11	neonatal hypotonia ⁵⁸	Occasional (29-5%)
12	abnormality of visual evoked potentials ⁵⁸	Occasional (29-5%)
13	flexion contracture ⁵⁸	Frequent (79-30%)
14	gastroesophageal reflux ⁵⁸	Very frequent (99-80%)
15	cognitive impairment ⁵⁸	Occasional (29-5%)
16	abnormality of metabolism/homeostasis ⁵⁸	Very frequent (99-80%)
17	emg abnormality ⁵⁸	Frequent (79-30%)
18	arrhythmia ⁵⁸	Occasional (29-5%)
19	pulmonary arterial hypertension ⁵⁸	Very rare (<4-1%)
20	open mouth ⁵⁸	Occasional (29-5%)
21	myositis ⁵⁸	Very frequent (99-80%)
22	cardiomyopathy ⁵⁸	Occasional (29-5%)
23	inability to walk ⁵⁸	Very frequent (99-80%)
24	reduced tendon reflexes ⁵⁸	Occasional (29-5%)
25	motor delay ⁵⁸	Very frequent (99-80%)
26	absence seizure ⁵⁸	Occasional (29-5%)
27	respiratory failure ⁵⁸	Very frequent (99-80%)
28	focal-onset seizure ⁵⁸	Occasional (29-5%)
29	protruding tongue ⁵⁸	Occasional (29-5%)
30	atelectasis ⁵⁸	Occasional (29-5%)
31	decreased body weight ⁵⁸	Occasional (29-5%)
32	pachygyria ⁵⁸	Occasional (29-5%)
33	weak cry ⁵⁸	Very frequent (99-80%)
34	hypokinesia ⁵⁸	Very frequent (99-80%)
35	muscular dystrophy ⁵⁸	Very frequent (99-80%)
36	congenital muscular dystrophy ⁵⁸	Very frequent (99-80%)
37	increased connective tissue ⁵⁸	Very frequent (99-80%)
38	absent muscle fiber merosin ⁵⁸	Very frequent (99-80%)
39	highly elevated creatine phosphokinase ⁵⁸	Very frequent (99-80%)
40	muscle fiber atrophy ⁵⁸	Very frequent (99-80%)
41	cerebral edema ⁵⁸	Frequent (79-30%)
42	astrocytosis ⁵⁸	Frequent (79-30%)
43	recurrent lower respiratory tract infections ⁵⁸	Frequent (79-30%)
44	aspiration ⁵⁸	Frequent (79-30%)
45	impaired mastication ⁵⁸	Frequent (79-30%)
46	abnormality of the temporomandibular joint ⁵⁸	Frequent (79-30%)
47	abnormal brainstem mri signal intensity ⁵⁸	Frequent (79-30%)
48	lissencephaly ⁵⁸	Occasional (29-5%)
49	myopathic facies ⁵⁸	Occasional (29-5%)
50	hypoventilation ⁵⁸	Occasional (29-5%)

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

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	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

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

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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

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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	Quijano-Roy S...Rutkowski A	22675738	2012
2	Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders ⁶	Makitie O...Vakkilainen S	22420014	2012
3	Consensus statement on standard of care for congenital muscular dystrophies. ⁶	Wang CH...International Standard of Care Committee for Congenital Muscular Dystrophy	21078917	2010
4	LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. ⁶	Oliveira J...Bronze-da-Rocha E	18700894	2008
5	LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. ⁶	Di Blasi C...Mora M	16216942	2005
6	Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene. ⁶	Coral-Vazquez RM...Salamanca F	12601554	2003
7	Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. ⁶	He Y...Guicheney P	11591858	2001
8	Congenital Muscular Dystrophy Overview ⁶	Sparks SE...Pegoraro E	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	Guicheney P...Tryggvason K	9541105	1998
10	Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. ⁶	Helbling-Leclerc A...Tryggvason K	7550355	1995
11	Merosin-negative congenital muscular dystrophy: Report of five cases. ⁶¹	Incecik F...Altunbasak S	26962340	2015
12	Evaluation of one hundred pediatric muscle biopsies during a 2-year period in mofid children and toos hospitals. ⁶¹	Nilipor Y...Tonekaboni SH	24665292	2013
13	Merosin-deficient congenital muscular dystrophy type 1A. ⁶¹	Buteica E...Zavaleanu M	18516331	2008
14	Brain MRI features of merosin-negative congenital muscular dystrophy. ⁶¹	Ibrahim Abdulla JK...Abubacker S	17991069	2007
15	Merosin-negative congenital muscular dystrophy: diffusion-weighted imaging findings of brain. ⁶¹	Alkan A...Yakinci C	17690079	2007
16	Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings. ⁶¹	Aslan M...Zorludemir S	15862197	2005
17	Merosin-deficient congenital muscular dystrophy in two siblings. ⁶¹	Hui CM...Loo KT	15591603	2004
18	Merosin negative congenital muscular dystrophy: a short report. ⁶¹	Ralte AM...Sarkar C	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	Petrini S...Bertini E	12812755	2003
20	Congenital muscular dystrophy in Israeli families. ⁶¹	Rachmiel M...Shahar E	12150578	2002
21	Nonmuscular involvement in merosin-negative congenital muscular dystrophy. ⁶¹	Gilhuis HJ...Gabreels FJ	11814732	2002
22	A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy. ⁶¹	Al-Ajmi MO...Neubauer D	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	Ringelmann B...Sorokin L	9882526	1999
24	Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept. ⁶¹	Mackay MT...Dennett X	9796753	1998
25	Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy. ⁶¹	Marbini A...Gemignani F	9255383	1997
26	Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter. ⁶¹	Echenne B...Pons F	9185183	1997
27	Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities. ⁶¹	Mora M...Morandi L	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	Pini A...Gobbi G	8879653	1996
29	Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report. ⁶¹	Yamashita Y...Nonaka I	8733905	1996
30	Basement membrane abnormality in merosin-negative congenital muscular dystrophy. ⁶¹	Osari S...Nonaka I	8928608	1996
31	Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. ⁶¹	Sunada Y...Campbell KP	7501163	1995
32	Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy. ⁶¹	Hayashi YK...Arahata K	7643867	1995
33	Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. ⁶¹	Hillaire D...Evangelista T	7833925	1994

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Genes for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Genes related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LAMA2	Laminin Subunit Alpha 2	Protein Coding	750	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸	16216942 7550355 12601554 (more) 21078917 9541105 11591858 20301468 22675738 18700894 22420014

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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 248) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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.7732C>T (p.Arg2578Ter)	SNV	Pathogenic	14296	rs121913572	6:129802567-129802567	6:129481422-129481422
5	LAMA2	NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter)	SNV	Pathogenic	14299	rs121913575	6:129674430-129674430	6:129353285-129353285
6	LAMA2	NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter)	SNV	Pathogenic	14300	rs121913576	6:129785589-129785589	6:129464444-129464444
7	LAMA2	NM_000426.3(LAMA2):c.2901C>A (p.Cys967Ter)	SNV	Pathogenic	14301	rs121913577	6:129618874-129618874	6:129297729-129297729
8	LAMA2	NM_000426.3(LAMA2):c.825del (p.Tyr276fs)	deletion	Pathogenic	14302	rs1562275792	6:129468109-129468109	6:129146964-129146964
9	LAMA2	NM_000426.3(LAMA2):c.7750-1713_7899-2153del	deletion	Pathogenic	14303		6:129805906-129810893	6:129484761-129489748
10	LAMA2	NM_001079823.2(LAMA2):c.1854_1861dup (p.Leu621fs)	duplication	Pathogenic	38339	rs202247791	6:129571328-129571335	6:129250183-129250190
11	LAMA2	LAMA2, IVS30, A-T, -2	SNV	Pathogenic	14289
12	LAMA2	NM_000426.3(LAMA2):c.3976C>T (p.Arg1326Ter)	SNV	Pathogenic	92956	rs398123373	6:129637234-129637234	6:129316089-129316089
13	LAMA2	NM_000426.3(LAMA2):c.1303C>T (p.Arg435Ter)	SNV	Pathogenic	235805	rs773209126	6:129486817-129486817	6:129165672-129165672
14	LAMA2	NM_000426.3(LAMA2):c.5476C>T (p.Arg1826Ter)	SNV	Pathogenic	265426	rs747349942	6:129722399-129722399	6:129401254-129401254
15	LAMA2	NM_000426.3(LAMA2):c.8665G>A (p.Gly2889Arg)	SNV	Pathogenic	266017	rs886039896	6:129826462-129826462	6:129505317-129505317
16	LAMA2	NM_000426.3(LAMA2):c.3799_3821del (p.Phe1267fs)	deletion	Pathogenic	280520	rs750220830	6:129636970-129636992	6:129315825-129315847
17	LAMA2	NM_000426.3(LAMA2):c.4048C>T (p.Arg1350Ter)	SNV	Pathogenic	284984	rs756854513	6:129637306-129637306	6:129316161-129316161
18	LAMA2	NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter)	SNV	Pathogenic	287913	rs758775001	6:129712680-129712680	6:129391535-129391535
19	LAMA2	NM_000426.3(LAMA2):c.397-4_478del	deletion	Pathogenic	437434	rs1554217494	6:129419314-129419399	6:129098169-129098254
20	LAMA2	NM_000426.3(LAMA2):c.7452-1G>A	SNV	Pathogenic	437435	rs1554304931	6:129799837-129799837	6:129478692-129478692
21	LAMA2	NM_000426.3(LAMA2):c.3924+2T>C	SNV	Pathogenic	447685	rs1554269966	6:129637097-129637097	6:129315952-129315952
22	LAMA2	NM_000426.3(LAMA2):c.363C>A (p.Tyr121Ter)	SNV	Pathogenic	551699	rs535635043	6:129381008-129381008	6:129059863-129059863
23	LAMA2	NM_000426.3(LAMA2):c.2230C>T (p.Arg744Ter)	SNV	Pathogenic	554268	rs775676341	6:129588272-129588272	6:129267127-129267127
24	LAMA2	NM_000426.3(LAMA2):c.5156_5159del (p.Lys1719fs)	deletion	Pathogenic	551648	rs1554286963	6:129712716-129712720	6:129391575-129391578
25	LAMA2	NM_000426.3(LAMA2):c.3085C>T (p.Arg1029Ter)	SNV	Pathogenic	551522	rs145420388	6:129621928-129621928	6:129300783-129300783
26	LAMA2	NM_000426.3(LAMA2):c.7490_7493dup (p.Asp2498fs)	duplication	Pathogenic	558356	rs1480934961	6:129799874-129799874	6:129478731-129478734
27	LAMA2	NM_000426.3(LAMA2):c.1122del (p.Gly376fs)	deletion	Pathogenic	552820	rs1338860420	6:129475743-129475744	6:129154599-129154599
28	LAMA2	NM_000426.3(LAMA2):c.3955C>T (p.Arg1319Ter)	SNV	Pathogenic	623353	rs1180309541	6:129637213-129637213	6:129316068-129316068
29	LAMA2	NM_000426.3(LAMA2):c.4959+1del	deletion	Pathogenic	689487		6:129691134-129691134	6:129369989-129369989
30	LAMA2	NM_000426.3(LAMA2):c.498G>A (p.Trp166Ter)	SNV	Pathogenic/Likely pathogenic	551094	rs553221833	6:129419419-129419419	6:129098274-129098274
31	LAMA2	NM_000426.3(LAMA2):c.4198C>T (p.Arg1400Ter)	SNV	Pathogenic/Likely pathogenic	557566	rs775112258	6:129649444-129649444	6:129328299-129328299
32	LAMA2	NM_000426.3(LAMA2):c.8244+1G>A	SNV	Pathogenic/Likely pathogenic	550992	rs749522728	6:129813629-129813629	6:129492484-129492484
33	LAMA2	NM_000426.3(LAMA2):c.329G>A (p.Trp110Ter)	SNV	Pathogenic/Likely pathogenic	557331	rs1441933780	6:129380974-129380974	6:129059829-129059829
34	LAMA2	NM_000426.3(LAMA2):c.5259del (p.Lys1753_Val1754insTer)	deletion	Pathogenic/Likely pathogenic	551353	rs1211739649	6:129714208-129714209	6:129393069-129393069
35	LAMA2	NM_000426.3(LAMA2):c.5866-2A>G	SNV	Pathogenic/Likely pathogenic	477495	rs1554295204	6:129748895-129748895	6:129427750-129427750
36	LAMA2	NM_000426.3(LAMA2):c.7658del (p.Ser2553fs)	deletion	Pathogenic/Likely pathogenic	477507	rs1293303410	6:129802493-129802493	6:129481348-129481348
37	LAMA2	NM_000426.3(LAMA2):c.2T>C (p.Met1Thr)	SNV	Pathogenic/Likely pathogenic	477459	rs374403765	6:129204392-129204392	6:128883247-128883247
38	LAMA2	NM_001079823.2(LAMA2):c.2556del (p.Phe852fs)	deletion	Pathogenic/Likely pathogenic	477455	rs750731624	6:129609010-129609010	6:129287865-129287865
39	LAMA2	NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter)	SNV	Pathogenic/Likely pathogenic	431964	rs762806915	6:129785516-129785516	6:129464371-129464371
40	LAMA2	NM_000426.3(LAMA2):c.283+1G>A	SNV	Pathogenic/Likely pathogenic	381584	rs200288072	6:129371234-129371234	6:129050089-129050089
41	LAMA2	NM_000426.3(LAMA2):c.5866-1G>A	SNV	Pathogenic/Likely pathogenic	424557	rs1064797040	6:129748896-129748896	6:129427751-129427751
42	LAMA2	NM_000426.3(LAMA2):c.4717+1G>T	SNV	Pathogenic/Likely pathogenic	429903	rs1131691660	6:129674503-129674503	6:129353358-129353358
43	LAMA2	NM_000426.3(LAMA2):c.817A>T (p.Arg273Ter)	SNV	Pathogenic/Likely pathogenic	287489	rs886043648	6:129465223-129465223	6:129144078-129144078
44	LAMA2	NM_000426.3(LAMA2):c.396+1G>T	SNV	Pathogenic/Likely pathogenic	282977	rs770617208	6:129381042-129381042	6:129059897-129059897
45	LAMA2	NM_000426.3(LAMA2):c.4348C>T (p.Arg1450Ter)	SNV	Pathogenic/Likely pathogenic	191214	rs200923373	6:129663524-129663524	6:129342379-129342379
46	LAMA2	NM_000426.3(LAMA2):c.2749+1G>C	SNV	Pathogenic/Likely pathogenic	194920	rs759555791	6:129609204-129609204	6:129288059-129288059
47	LAMA2	NM_000426.3(LAMA2):c.5260del (p.Lys1753_Val1754insTer)	deletion	Pathogenic/Likely pathogenic	196993	rs794727594	6:129714215-129714215	6:129393070-129393070
48	LAMA2	NM_000426.3(LAMA2):c.5562+5G>C	SNV	Pathogenic/Likely pathogenic	197024	rs771046502	6:129722490-129722490	6:129401345-129401345
49	LAMA2	NM_000426.3(LAMA2):c.3623_3645del (p.Lys1208fs)	deletion	Pathogenic/Likely pathogenic	167242	rs727503992	6:129636688-129636710	6:129315543-129315565
50	LAMA2	NM_000426.3(LAMA2):c.5050G>T (p.Glu1684Ter)	SNV	Pathogenic/Likely pathogenic	92964	rs201632009	6:129704357-129704357	6:129383212-129383212

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Expression for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Search GEO for disease gene expression data for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy.

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Pathways for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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

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Sources for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia