Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LGMD3 MCID: ATS298 MIFTS: 33	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b (LGMD3) Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Expand all tables

Sources

Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

MalaCards integrated aliases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b ¹² ¹⁵

Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency ¹²

Muscular Dystrophy, Limb-Girdle, Type 2b ⁷⁴

Limb-Girdle Muscular Dystrophy Type 3 ¹²

Lgmd2b ¹²

Lgmd3 ¹²

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

External Ids:

Disease Ontology ¹² DOID:0110276

ICD10 ³⁴ G71.0

UMLS ⁷⁴ C1850889

Sources

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Disease Ontology : ¹² An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b, also known as limb-girdle muscular dystrophy due to dysferlin deficiency, is related to dysferlinopathy and muscular dystrophy, limb-girdle, autosomal recessive 2. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b is DYSF (Dysferlin), and among its related pathways/superpathways are Allograft rejection and Dilated cardiomyopathy (DCM). Affiliated tissues include skeletal muscle, and related phenotypes are cardiovascular system and muscle

Sources

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Diseases in the Limb-Girdle Muscular Dystrophy family:

Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)

#	Related Disease	Score	Top Affiliating Genes
1	dysferlinopathy	32.4	CAPN3 DYSF MYOF
2	muscular dystrophy, limb-girdle, autosomal recessive 2	30.9	CAPN3 CAV3 DYSF FKRP MYOT SGCA
3	myopathy	30.1	CAPN3 CAV3 DYSF MYOT
4	autosomal recessive limb-girdle muscular dystrophy	28.1	CAPN3 CAV3 DMD DYSF FKRP SGCA
5	limb-girdle muscular dystrophy	27.9	CAPN3 CAV3 DMD DYSF FKRP MYOT
6	muscular dystrophy	27.5	CAPN3 CAV3 DMD DYSF FKRP MYOF
7	muscular dystrophy, limb-girdle, autosomal dominant 3	11.6
8	autosomal dominant limb-girdle muscular dystrophy	10.2	CAV3 MYOT
9	miyoshi muscular dystrophy 1	10.2
10	paresthesia	10.2	CAPN3 FKRP
11	muscular dystrophy, limb-girdle, autosomal recessive 8	10.0	CAPN3 DYSF FKRP
12	muscular dystrophy-dystroglycanopathy , type c, 5	10.0	CAPN3 DYSF FKRP
13	muscular atrophy	10.0
14	localized lipodystrophy	10.0	DMD DYSF
15	muscular dystrophy, limb-girdle, autosomal dominant 1	9.9	CAV3 MYOT SGCB
16	stormorken syndrome	9.9	DMD DYSF
17	myopathy, myofibrillar, 2	9.9	DMD MYOT
18	autosomal recessive limb-girdle muscular dystrophy type 2l	9.9	DYSF FKRP SGCB
19	creatine phosphokinase, elevated serum	9.9	CAV3 DMD
20	rigid spine muscular dystrophy 1	9.9	DMD DYSF
21	muscular dystrophy, congenital, 1b	9.8	DMD FKRP
22	bethlem myopathy 1	9.8	CAPN3 DMD DYSF
23	myositis	9.8	CAPN3 DMD DYSF
24	muscle eye brain disease	9.8	FKRP SGCA
25	myopathy, congenital	9.8	DMD DYSF
26	muscular dystrophy-dystroglycanopathy , type a, 1	9.8	DMD FKRP
27	cardiomyopathy, dilated, 3b	9.8	DMD SGCA
28	muscular dystrophy-dystroglycanopathy , type a, 4	9.8	DMD FKRP
29	muscular dystrophy, congenital merosin-deficient, 1a	9.8	DMD SGCA
30	mcleod syndrome	9.8	DMD SGCA
31	muscular dystrophy-dystroglycanopathy , type b, 6	9.8	DMD FKRP
32	polyglucosan body myopathy 1 with or without immunodeficiency	9.7	CAPN3 DMD FKRP
33	autosomal recessive limb-girdle muscular dystrophy type 2j	9.7	CAPN3 FKRP MYOT SGCB
34	muscular dystrophy, becker type	9.7	DMD DYSF SGCA
35	atrial standstill 1	9.7	DMD FKRP MYOT
36	muscular dystrophy-dystroglycanopathy , type b, 5	9.6	CAV3 DMD FKRP
37	congenital fiber-type disproportion	9.6	DMD DYSF
38	muscular dystrophy, congenital, lmna-related	9.6	DMD FKRP
39	autosomal recessive limb-girdle muscular dystrophy type 2g	9.6	CAPN3 DYSF MYOT SGCB SGCG
40	isolated hyperckemia	9.5	CAPN3 CAV3 DMD FKRP
41	walker-warburg syndrome	9.5	DMD FKRP SGCA
42	autosomal recessive limb-girdle muscular dystrophy type 2h	9.4	CAPN3 FKRP MYOT SGCB SGCG
43	autosomal recessive limb-girdle muscular dystrophy type 2f	9.4	CAPN3 DYSF SGCA SGCB SGCG
44	muscular dystrophy, limb-girdle, autosomal recessive 7	9.4	CAPN3 DMD DYSF FKRP MYOT
45	miyoshi muscular dystrophy	9.3	CAPN3 CAV3 DMD DYSF MYOF MYOT
46	autosomal recessive limb-girdle muscular dystrophy type 2d	9.1	CAPN3 DYSF FKRP SGCA SGCB SGCG
47	autosomal recessive limb-girdle muscular dystrophy type 2c	9.0	CAPN3 DMD DYSF SGCA SGCB SGCG
48	dilated cardiomyopathy	8.9	DMD FKRP SGCA SGCB SGCG
49	autosomal recessive limb-girdle muscular dystrophy type 2a	8.9	CAPN3 DYSF FKRP MYOT SGCA SGCB
50	muscular dystrophy, limb-girdle, autosomal recessive 6	8.7	CAPN3 DMD DYSF FKRP SGCA SGCB

Graphical network of the top 20 diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

Sources

Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

MGI Mouse Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.56	CAPN3 CAV3 DMD FKRP MYOF SGCA
2	muscle	MP:0005369	9.28	CAPN3 CAV3 DMD DYSF FKRP MYOF

Sources

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Sources

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Sources

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

MalaCards organs/tissues related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

⁴²

Skeletal Muscle

Sources

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Articles related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

#	Title	Authors	Year
1	Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B. ( 30366248 )	Okubo M...Nishino I	2018

Sources

Genes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Genes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b (0 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	DYSF	Dysferlin	Protein Coding	28.96	DISEASES inferred ¹⁵ GeneCards inferred via : Summaries (show sections)
2	CAPN3	Calpain 3	Protein Coding	17.06	DISEASES inferred ¹⁵
3	MYOF	Myoferlin	Protein Coding	16.92	DISEASES inferred ¹⁵
4	MYOT	Myotilin	Protein Coding	16.82	DISEASES inferred ¹⁵
5	AUP1	AUP1 Lipid Droplet Regulating VLDL Assembly Factor	Protein Coding	16.69	DISEASES inferred ¹⁵
6	CAV3	Caveolin 3	Protein Coding	16.68	DISEASES inferred ¹⁵
7	SGCG	Sarcoglycan Gamma	Protein Coding	16.62	DISEASES inferred ¹⁵
8	SGCB	Sarcoglycan Beta	Protein Coding	16.34	DISEASES inferred ¹⁵
9	SGCA	Sarcoglycan Alpha	Protein Coding	16.28	DISEASES inferred ¹⁵
10	DMD	Dystrophin	Protein Coding	16.1	DISEASES inferred ¹⁵
11	FKRP	Fukutin Related Protein	Protein Coding	15.95	DISEASES inferred ¹⁵

Sources

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Sources

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Search GEO for disease gene expression data for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b.

Sources

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Pathways related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Allograft rejection ¹ ³⁸ Show member pathways Antigen processing and presentation ³⁸ Asthma ³⁸ Autoimmune thyroid disease ³⁸ CTL Mediated Apoptosis ⁶⁵ Graft-versus-host disease ³⁸ Intestinal immune network for IgA production ³⁸ THC Differentiation Pathway ⁶⁵ Type I diabetes mellitus ³⁸ Viral myocarditis ³⁸	12.2	DMD SGCA SGCB SGCG
2	Dilated cardiomyopathy (DCM) ³⁸ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁸	11.5	DMD SGCA SGCB SGCG
3	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁸ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹ Calpain Protease Regulates Cellular Mechanics ⁶⁵	11.43	CAPN3 DMD SGCA SGCB SGCG
4	Smooth Muscle Contraction ⁶⁷	10.81	CAV3 DYSF

Sources

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Cellular components related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.88	DMD MYOT SGCA SGCB SGCG
2	membrane raft	GO:0045121	9.63	CAV3 DMD SGCA
3	Z disc	GO:0030018	9.62	CAPN3 CAV3 DMD MYOT
4	T-tubule	GO:0030315	9.58	CAPN3 CAV3 DYSF
5	myofibril	GO:0030016	9.49	CAPN3 DMD
6	sarcoglycan complex	GO:0016012	9.43	SGCA SGCB SGCG
7	dystroglycan complex	GO:0016011	9.33	SGCA SGCB SGCG
8	dystrophin-associated glycoprotein complex	GO:0016010	9.26	CAV3 DMD SGCA SGCB
9	sarcolemma	GO:0042383	9.23	CAV3 DMD DYSF FKRP MYOT SGCA
10	membrane	GO:0016020	10.13	AUP1 CAV3 DMD DYSF FKRP MYOF
11	plasma membrane	GO:0005886	10.07	CAPN3 CAV3 DMD DYSF FKRP MYOF

Biological processes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	skeletal muscle tissue regeneration	GO:0043403	9.58	DMD DYSF SGCA
2	regulation of heart rate	GO:0002027	9.55	CAV3 DMD
3	muscle contraction	GO:0006936	9.55	CAV3 DYSF MYOF MYOT SGCA
4	myoblast fusion	GO:0007520	9.54	CAV3 MYOF
5	muscle cell cellular homeostasis	GO:0046716	9.54	CAPN3 CAV3 DMD
6	glycerol metabolic process	GO:0006071	9.52	DYSF MYOF
7	response to denervation involved in regulation of muscle adaptation	GO:0014894	9.51	DMD SGCA
8	plasma membrane repair	GO:0001778	9.5	CAV3 DYSF MYOF
9	regulation of calcium ion import	GO:0090279	9.49	CAV3 DYSF
10	cardiac muscle cell development	GO:0055013	9.48	CAV3 SGCB
11	nucleus localization	GO:0051647	9.46	CAV3 DMD
12	regulation of skeletal muscle contraction	GO:0014819	9.43	CAV3 DMD
13	T-tubule organization	GO:0033292	9.43	CAV3 DYSF MYOF
14	muscle fiber development	GO:0048747	9.26	DMD DYSF MYOF SGCB
15	muscle organ development	GO:0007517	9.1	CAPN3 CAV3 DMD SGCA SGCB SGCG

Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	alpha-tubulin binding	GO:0043014	9.26	CAV3 DYSF
2	nitric-oxide synthase binding	GO:0050998	9.16	CAV3 DMD
3	dystroglycan binding	GO:0002162	8.96	DMD FKRP
4	structural constituent of muscle	GO:0008307	8.8	CAPN3 DMD MYOT

Sources

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b (LGMD3)

Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

MalaCards integrated aliases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

Classifications:

External Ids:

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Diseases in the Limb-Girdle Muscular Dystrophy family:

Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

MGI Mouse Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

MalaCards organs/tissues related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Articles related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

Genes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Genes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b (0 elite genes):

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Pathways related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b according to GeneCards Suite gene sharing:

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Cellular components related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b according to GeneCards Suite gene sharing:

Biological processes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b according to GeneCards Suite gene sharing:

Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b according to GeneCards Suite gene sharing:

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b