Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CLP009 MIFTS: 26	Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 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 Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

MalaCards integrated aliases for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

Name: Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 ⁵⁸

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a ⁵⁸

Limb-Girdle Muscular Dystrophy Due to Calpain Deficiency ⁵⁸

Primary Calpainopathy ⁵⁸

Lgmd2a ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

calpain-3-related limb-girdle muscular dystrophy r1
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

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

Muscular dystrophy

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³³ G71.0

UMLS via Orphanet ⁷² C1869123

Orphanet ⁵⁸ ORPHA267

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Summaries for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

MalaCards based summary : Calpain-3-Related Limb-Girdle Muscular Dystrophy R1, also known as autosomal recessive limb-girdle muscular dystrophy type 2a, is related to muscular dystrophy, limb-girdle, autosomal recessive 1 and limb-girdle muscular dystrophy. An important gene associated with Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 is CAPN3 (Calpain 3). Affiliated tissues include heart, and related phenotypes are hyperlordosis and flexion contracture

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Related Diseases for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Diseases in the Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 family:

Calpain-3-Related Limb-Girdle Muscular Dystrophy D4

Diseases related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)

#	Related Disease	Score
1	muscular dystrophy, limb-girdle, autosomal recessive 1	12.4
2	limb-girdle muscular dystrophy	11.7
3	muscular dystrophy, limb-girdle, autosomal recessive 25	11.2
4	autosomal recessive limb-girdle muscular dystrophy type 2a	11.2
5	muscular dystrophy	10.7
6	myopathy	10.4
7	autosomal recessive disease	10.3
8	facioscapulohumeral muscular dystrophy 1	10.2
9	muscular dystrophy, limb-girdle, autosomal recessive 2	10.2
10	muscular dystrophy-dystroglycanopathy , type c, 5	10.2
11	autosomal recessive limb-girdle muscular dystrophy	10.2
12	muscular atrophy	10.2
13	progressive familial heart block, type ia	10.0
14	bethlem myopathy 1	10.0
15	facioscapulohumeral muscular dystrophy 2	10.0
16	muscular dystrophy, limb-girdle, autosomal recessive 5	10.0
17	muscular dystrophy, limb-girdle, autosomal recessive 8	10.0
18	muscular dystrophy, duchenne type	10.0
19	muscular dystrophy, limb-girdle, autosomal recessive 6	10.0
20	autoimmune lymphoproliferative syndrome	10.0
21	muscular dystrophy, limb-girdle, autosomal recessive 7	10.0
22	muscular dystrophy, limb-girdle, autosomal recessive 4	10.0
23	progressive familial heart block, type ib	10.0
24	myopathy, proximal, and ophthalmoplegia	10.0
25	muscular dystrophy, limb-girdle, autosomal recessive 3	10.0
26	muscle hypertrophy	10.0
27	miyoshi muscular dystrophy	10.0
28	emery-dreifuss muscular dystrophy	10.0
29	right bundle branch block	10.0
30	dysferlinopathy	10.0
31	cerebral atrophy	10.0
32	qualitative or quantitative defects of dysferlin	10.0
33	qualitative or quantitative defects of sarcoglycan	10.0

Graphical network of the top 20 diseases related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

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Symptoms & Phenotypes for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Human phenotypes related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

⁵⁸ (show all 21)

#	Description	Orphanet Frequency
1	hyperlordosis ⁵⁸	Frequent (79-30%)
2	flexion contracture ⁵⁸	Frequent (79-30%)
3	elevated serum creatine phosphokinase ⁵⁸	Frequent (79-30%)
4	generalized muscle weakness ⁵⁸	Very frequent (99-80%)
5	congenital finger flexion contractures ⁵⁸	Frequent (79-30%)
6	elbow flexion contracture ⁵⁸	Frequent (79-30%)
7	spinal rigidity ⁵⁸	Frequent (79-30%)
8	scapular winging ⁵⁸	Frequent (79-30%)
9	toe walking ⁵⁸	Frequent (79-30%)
10	difficulty walking ⁵⁸	Frequent (79-30%)
11	proximal muscle weakness ⁵⁸	Frequent (79-30%)
12	wrist flexion contracture ⁵⁸	Occasional (29-5%)
13	muscular dystrophy ⁵⁸	Frequent (79-30%)
14	lower limb muscle weakness ⁵⁸	Frequent (79-30%)
15	ankle contracture ⁵⁸	Frequent (79-30%)
16	difficulty climbing stairs ⁵⁸	Occasional (29-5%)
17	calf muscle hypertrophy ⁵⁸	Frequent (79-30%)
18	hamstring contractures ⁵⁸	Frequent (79-30%)
19	pelvic girdle amyotrophy ⁵⁸	Frequent (79-30%)
20	scapular muscle atrophy ⁵⁸	Frequent (79-30%)
21	pectoralis amyotrophy ⁵⁸	Frequent (79-30%)

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Drugs & Therapeutics for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Search Clinical Trials , NIH Clinical Center for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

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Genetic Tests for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

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Anatomical Context for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

MalaCards organs/tissues related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

⁴⁰

Heart

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Publications for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Articles related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

(show all 15)

#	Title	Authors	PMID	Year
1	A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. ⁶	Todorova A...Horst J	17318636	2007
2	CAPN3 mutations in patients with idiopathic eosinophilic myositis. ⁶	Krahn M...Levy N	16607617	2006
3	Calpainopathy ⁶	Angelini C...Fanin M	20301490	2005
4	The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. ⁶	Fanin M...Angelini C	15725583	2005
5	Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. ⁶	Canki-Klain N...Feingold J	14981715	2004
6	Limb-Girdle Muscular Dystrophy Overview ⁶	Pegoraro E...Hoffman EP	20301582	2000
7	Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families. ⁶	Kawai H...Matsumoto T	9771675	1998
8	Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). ⁶	Urtasun M...Lopez de Munain A	9762961	1998
9	DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene. ⁶	Pratt VM...Feldman GL	9246005	1997
10	Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. ⁶	Richard I...Beckmann JS	9150160	1997
11	Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. ⁶	Richard I...Roudaut C	7720071	1995
12	Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? ⁶¹	Krahn M...Lopez de Munain A	21204801	2011
13	How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. ⁶¹	Fanin M...Angelini C	18854869	2009
14	Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? ⁶¹	Fanin M...Angelini C	19287313	2009
15	Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. ⁶¹	Fanin M...Angelini C	16971480	2007

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Genes for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Genes related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CAPN3	Calpain 3	Protein Coding	750	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸	9150160 9246005 14981715 (more) 20301582 16607617 9771675 9762961 20301490 17318636 7720071 15725583

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Variations for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

ClinVar genetic disease variations for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

⁶ (show top 50) (show all 343) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CAPN3	NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)	SNV	Pathogenic	166791	rs727503839	15:42695154-42695154	15:42402956-42402956
2	CAPN3	NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)	deletion	Pathogenic	166786	rs727503837	15:42680049-42680063	15:42387851-42387865
3	CAPN3	NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)	deletion	Pathogenic	194691	rs762471207	15:42701567-42701567	15:42409369-42409369
4	CAPN3	NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)	SNV	Pathogenic	195641	rs778768583	15:42703156-42703156	15:42410958-42410958
5	CAPN3	NM_000070.3(CAPN3):c.756_758GAA[1] (p.Lys254del)	short repeat	Pathogenic	197624	rs794727697	15:42681249-42681251	15:42389051-42389053
6	CAPN3	NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)	duplication	Pathogenic	210563	rs797045427	15:42676695-42676696	15:42384497-42384498
7	CAPN3	NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)	SNV	Pathogenic	217147	rs376107921	15:42691815-42691815	15:42399617-42399617
8	CAPN3	NM_000070.3(CAPN3):c.499-1G>A	SNV	Pathogenic	217157	rs863224964	15:42679950-42679950	15:42387752-42387752
9	CAPN3	NM_000070.3(CAPN3):c.1194-9A>G	SNV	Pathogenic	217146	rs374665929	15:42691681-42691681	15:42399483-42399483
10	CAPN3	NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)	SNV	Pathogenic	217149	rs863224956	15:42691839-42691839	15:42399641-42399641
11	CAPN3	NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)	SNV	Pathogenic	217150	rs863224957	15:42693949-42693949	15:42401751-42401751
12	CAPN3	NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)	SNV	Pathogenic	217152	rs863224959	15:42695169-42695169	15:42402971-42402971
13	CAPN3	NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter)	SNV	Pathogenic	217153	rs863224960	15:42701525-42701525	15:42409327-42409327
14	CAPN3	NM_000070.3(CAPN3):c.1992+1G>T	SNV	Pathogenic	217154	rs863224961	15:42701579-42701579	15:42409381-42409381
15	CAPN3	NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)	indel	Pathogenic	17618	rs1555423217	15:42703180-42703181	15:42410982-42410983
16	CAPN3	NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys)	SNV	Pathogenic	17619	rs267606703	15:42686504-42686504	15:42394306-42394306
17	CAPN3	NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)	duplication	Pathogenic	17620	rs80338803	15:42698129-42698130	15:42405931-42405932
18	CAPN3 , SGCB	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	deletion	Pathogenic	17621	rs80338800	15:42680001-42680001	15:42387803-42387803
19	CAPN3 , POMT1	NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	SNV	Pathogenic	17622	rs121434548	15:42693953-42693953	15:42401755-42401755
20	CAPN3	NM_000070.3(CAPN3):c.946-1G>A	SNV	Pathogenic	21036	rs80338801	15:42684836-42684836	15:42392638-42392638
21	CAPN3	NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter)	SNV	Pathogenic	242415	rs878854364	15:42678424-42678424	15:42386226-42386226
22	CAPN3	NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)	SNV	Pathogenic	17613	rs80338802	15:42703124-42703124	15:42410926-42410926
23	CAPN3	NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	SNV	Pathogenic	17614	rs121434544	15:42695170-42695170	15:42402972-42402972
24	CAPN3	NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)	SNV	Pathogenic	17615	rs121434545	15:42676699-42676699	15:42384501-42384501
25	CAPN3	NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe)	SNV	Pathogenic	17616	rs121434546	15:42652260-42652260	15:42360062-42360062
26	CAPN3	NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)	deletion	Pathogenic	217159	rs863224965	15:42681133-42681153	15:42388935-42388955
27	CAPN3	NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs)	indel	Pathogenic	217160	rs863224966	15:42682232-42682235	15:42390034-42390037
28	CAPN3	NM_000070.3(CAPN3):c.223dup (p.Tyr75fs)	duplication	Pathogenic	92411	rs398123146	15:42652223-42652224	15:42360025-42360026
29	CAPN3	NM_000070.3(CAPN3):c.802-9G>A	SNV	Pathogenic	280037	rs761211705	15:42682142-42682142	15:42389944-42389944
30	CAPN3	NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)	SNV	Pathogenic	280038	rs776043976	15:42691838-42691838	15:42399640-42399640
31	CAPN3	NM_000070.3(CAPN3):c.1322del (p.Gly441fs)	deletion	Pathogenic	281062	rs1555421871	15:42691815-42691815	15:42399617-42399617
32	CAPN3	NM_000070.3(CAPN3):c.2051-1G>T	SNV	Pathogenic	281184	rs886042108	15:42702128-42702128	15:42409930-42409930
33	CAPN3	NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)	SNV	Pathogenic	281254	rs749099493	15:42686487-42686487	15:42394289-42394289
34	CAPN3	NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs)	insertion	Pathogenic	281689	rs761897806	15:42703179-42703180	15:42410981-42410982
35	CAPN3	NM_000070.3(CAPN3):c.2034_2035CA[1] (p.Thr679fs)	short repeat	Pathogenic	282536	rs886042418	15:42702025-42702026	15:42409827-42409828
36	CAPN3	NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)	SNV	Pathogenic	283259	rs768090444	15:42702843-42702843	15:42410645-42410645
37	CAPN3	NM_000070.3(CAPN3):c.258dup (p.Leu87fs)	duplication	Pathogenic	284122	rs753360208	15:42652260-42652261	15:42360062-42360063
38	CAPN3	NM_000070.3(CAPN3):c.1043del (p.Gly348fs)	deletion	Pathogenic	286813	rs781013226	15:42686466-42686466	15:42394268-42394268
39	CAPN3	NM_000070.3(CAPN3):c.1801-1G>A	SNV	Pathogenic	287890	rs886043752	15:42700408-42700408	15:42408210-42408210
40	CAPN3	NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	SNV	Pathogenic	289644	rs147764579	15:42693950-42693950	15:42401752-42401752
41	CAPN3	NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter)	SNV	Pathogenic	290348	rs752848213	15:42695117-42695117	15:42402919-42402919
42	CAPN3	NM_000070.3(CAPN3):c.2263+1G>A	SNV	Pathogenic	290519	rs886044475	15:42702865-42702865	15:42410667-42410667
43	CAPN3	NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter)	SNV	Pathogenic	441261	rs1555420475	15:42679970-42679970	15:42387772-42387772
44	CAPN3	NC_000015.9:g.(?_42651698)_(42704515_?)del	deletion	Pathogenic	468637		15:42651698-42704515	15:42359500-42412317
45	CAPN3	NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)	SNV	Pathogenic	497182	rs766334893	15:42684918-42684918	15:42392720-42392720
46	CAPN3	NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter)	SNV	Pathogenic	497833	rs1555421523	15:42689000-42689000	15:42396802-42396802
47	CAPN3	NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	SNV	Pathogenic	498267	rs142004418	15:42695076-42695076	15:42402878-42402878
48	CAPN3	NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)	SNV	Pathogenic	501754	rs1555420634	15:42681194-42681194	15:42388996-42388996
49	CAPN3	NM_000070.3(CAPN3):c.1524+1G>A	SNV	Pathogenic	536512	rs1275289254	15:42694009-42694009	15:42401811-42401811
50	CAPN3	NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs)	indel	Pathogenic	536516	rs1555420642	15:42681220-42681223	15:42389022-42389025

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Expression for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Search GEO for disease gene expression data for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1.

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Pathways for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

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GO Terms for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

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Sources for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

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