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

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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 ⁷³

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: ³³

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 ³³ G71.0

UMLS ⁷³ C1850889

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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 muscular dystrophy, limb-girdle, type 2b and anterior compartment syndrome. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b is DYSF (Dysferlin), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Smooth Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are homeostasis/metabolism and muscle

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

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a	Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a	Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c	Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f	Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e	Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d	Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j	Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l	Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q	Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x	Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z	Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 28)

#	Related Disease	Score	Top Affiliating Genes
1	muscular dystrophy, limb-girdle, type 2b	29.7	CAPN3 CAV3 DYSF MYOF SGCA
2	anterior compartment syndrome	10.5	ANO5 DYSF
3	muscular dystrophy, limb-girdle, type 2l	10.5	ANO5 DYSF
4	muscular dystrophy, limb-girdle, type 2h	10.4	CAPN3 DYSF
5	muscular dystrophy, limb-girdle, type 2g	10.3	CAPN3 DYSF
6	muscular dystrophy-dystroglycanopathy , type c, 5	10.2	CAPN3 DYSF
7	autosomal recessive limb-girdle muscular dystrophy type 2e	10.2	CAPN3 SGCG
8	muscular dystrophy, limb-girdle, type 1c	10.2	CAV3 DYSF
9	autosomal dominant limb-girdle muscular dystrophy type 1c	10.1	CAV3 DYSF
10	creatine phosphokinase, elevated serum	10.0	ANO5 CAV3
11	rippling muscle disease 2	10.0	CAV3 DYSF
12	bethlem myopathy 1	10.0	CAPN3 DYSF
13	dysferlinopathy	10.0	CAPN3 DYSF MYOF
14	muscular dystrophy, limb-girdle, type 1a	9.9	CAPN3 CAV3
15	autosomal recessive limb-girdle muscular dystrophy type 2h	9.9	CAPN3 DYSF SGCG
16	myositis	9.8	CAPN3 DYSF
17	isolated hyperckemia	9.7	ANO5 CAPN3 CAV3
18	muscular dystrophy, becker type	9.6	DYSF SGCA
19	distal muscular dystrophy	9.4	ANO5 CAPN3 CAV3 DYSF
20	autosomal recessive limb-girdle muscular dystrophy type 2f	9.0	CAPN3 DYSF SGCA SGCG
21	muscular dystrophy, limb-girdle, type 2c	8.9	CAPN3 DYSF SGCA SGCG
22	muscular dystrophy, limb-girdle, type 2d	8.9	CAPN3 DYSF SGCA SGCG
23	muscular dystrophy, limb-girdle, type 2f	8.9	CAPN3 DYSF SGCA SGCG
24	autosomal recessive limb-girdle muscular dystrophy	8.6	ANO5 CAPN3 DYSF SGCA SGCG
25	muscle tissue disease	7.8	ANO5 CAPN3 CAV3 DYSF SGCA SGCG
26	limb-girdle muscular dystrophy	7.8	ANO5 CAPN3 CAV3 DYSF SGCA SGCG
27	myopathy	7.7	ANO5 CAPN3 CAV3 DYSF SGCA SGCG
28	muscular dystrophy	7.3	ANO5 CAPN3 CAV3 DYSF MYOF SGCA

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

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

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.5	AHNAK ANO5 CAPN3 CAV3 DYSF SGCA
2	muscle	MP:0005369	9.17	CAV3 DYSF MYOF SGCA SGCG ANO5

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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

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

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

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

⁴¹

Skeletal Muscle

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

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

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

- 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	ANO5	Anoctamin 5	Protein Coding	19.57	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	CAPN3	Calpain 3	Protein Coding	17.25	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	MYOF	Myoferlin	Protein Coding	17.03	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	AUP1	AUP1, Lipid Droplet Regulating VLDL Assembly Factor	Protein Coding	16.65	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	SGCG	Sarcoglycan Gamma	Protein Coding	16.54	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	CAV3	Caveolin 3	Protein Coding	16.36	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	SGCA	Sarcoglycan Alpha	Protein Coding	16.29	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	AHNAK	AHNAK Nucleoprotein	Protein Coding	16.09	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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

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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.

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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	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁷ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹ Calpain Protease Regulates Cellular Mechanics ⁶⁴	11.54	CAPN3 SGCA SGCG
2	Smooth Muscle Contraction ⁶⁶	10.18	CAV3 DYSF

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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:

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	9.97	AHNAK ANO5 CAPN3 CAV3 DYSF MYOF
2	membrane raft	GO:0045121	9.61	AHNAK CAV3 SGCA
3	vesicle	GO:0031982	9.58	AHNAK ANO5 CAV3
4	caveola	GO:0005901	9.46	CAV3 MYOF
5	dystrophin-associated glycoprotein complex	GO:0016010	9.32	CAV3 SGCA
6	sarcoglycan complex	GO:0016012	9.26	SGCA SGCG
7	T-tubule	GO:0030315	9.26	AHNAK CAPN3 CAV3 DYSF
8	dystroglycan complex	GO:0016011	9.16	SGCA SGCG
9	sarcolemma	GO:0042383	9.02	AHNAK CAV3 DYSF SGCA SGCG

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

#	Name	GO ID	Score	Top Affiliating Genes
1	muscle contraction	GO:0006936	9.46	CAV3 DYSF MYOF SGCA
2	regulation of catalytic activity	GO:0050790	9.37	AUP1 CAPN3
3	myoblast fusion	GO:0007520	9.32	CAV3 MYOF
4	muscle cell cellular homeostasis	GO:0046716	9.26	CAPN3 CAV3
5	muscle organ development	GO:0007517	9.26	CAPN3 CAV3 SGCA SGCG
6	plasma membrane repair	GO:0001778	8.8	CAV3 DYSF MYOF

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	protein-containing complex scaffold activity	GO:0032947	8.62	CAPN3 CAV3

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

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