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

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

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

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

Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency ¹²

Muscular Dystrophy, Limb-Girdle, Type 2g ¹²

Lgmd2g 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:0110281

ICD10 ³⁴ G71.0

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

Disease Ontology : ¹² An autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding telethonin (TCAP).

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g, also known as limb-girdle muscular dystrophy due to telethonin deficiency, is related to muscular dystrophy, limb-girdle, autosomal recessive 7 and isolated hyperckemia. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g is TCAP (Titin-Cap), and among its related pathways/superpathways are Cardiac conduction and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Related phenotypes are cardiovascular system and muscle

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

Diseases in the Limb-Girdle Muscular Dystrophy family:

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

(show all 34)

#	Related Disease	Score	Top Affiliating Genes
1	muscular dystrophy, limb-girdle, autosomal recessive 7	31.4	TTN TCAP MYOT DYSF CAPN3
2	isolated hyperckemia	10.1	CAPN3 TCAP
3	dysferlinopathy	10.0	CAPN3 DYSF
4	tibial muscular dystrophy	10.0	CAPN3 TTN
5	familial isolated dilated cardiomyopathy	10.0	TCAP TTN
6	bethlem myopathy 1	10.0	CAPN3 DYSF
7	myopathy, myofibrillar, 3	9.9	TTN MYOT
8	rigid spine muscular dystrophy 1	9.9	DYSF TTN
9	autosomal recessive limb-girdle muscular dystrophy type 2l	9.9	DYSF SGCB
10	myopathy, spheroid body	9.9	MYOT TTN
11	myositis	9.8	TTN DYSF CAPN3
12	myofibrillar myopathy	9.7	TTN TCAP MYOT
13	muscular dystrophy, limb-girdle, autosomal dominant 1	9.7	MYOT SGCB
14	neuromuscular disease	9.7	TTN MYOT
15	autosomal recessive limb-girdle muscular dystrophy	9.7	TCAP SGCG DYSF CAPN3
16	muscular dystrophy, limb-girdle, autosomal recessive 8	9.6	TTN TCAP DYSF CAPN3
17	muscular dystrophy-dystroglycanopathy , type c, 5	9.6	TTN TCAP DYSF CAPN3
18	atrial standstill 1	9.6	TTN MYOT
19	miyoshi muscular dystrophy	9.5	CAPN3 DYSF MYOT TTN
20	muscle tissue disease	9.5	CAPN3 DYSF MYOT SGCG
21	myopathy	9.5	TTN MYOT DYSF CAPN3
22	autosomal recessive limb-girdle muscular dystrophy type 2f	9.4	SGCG SGCB DYSF CAPN3
23	autosomal recessive limb-girdle muscular dystrophy type 2d	9.4	SGCG SGCB DYSF CAPN3
24	autosomal recessive limb-girdle muscular dystrophy type 2c	9.4	SGCG SGCB DYSF CAPN3
25	autosomal recessive limb-girdle muscular dystrophy type 2b	9.4	SGCG SGCB DYSF CAPN3
26	dilated cardiomyopathy	9.3	TTN TCAP SGCG SGCB
27	autosomal recessive limb-girdle muscular dystrophy type 2j	9.3	TTN SGCB MYOT CAPN3
28	autosomal recessive limb-girdle muscular dystrophy type 2h	9.3	SGCG SGCB MYOT CAPN3
29	muscular dystrophy, limb-girdle, autosomal recessive 6	8.9	CAPN3 DYSF SGCB SGCG TCAP TTN
30	muscular dystrophy, limb-girdle, autosomal recessive 2	8.8	CAPN3 DYSF TTN TCAP SGCB MYOT
31	autosomal recessive limb-girdle muscular dystrophy type 2a	8.7	CAPN3 DYSF MYOT SGCB SGCG TTN
32	muscular disease	8.7	TTN SGCG SGCB MYOT DYSF CAPN3
33	muscular dystrophy	8.5	TTN TCAP SGCG SGCB MYOT DYSF
34	limb-girdle muscular dystrophy	8.5	CAPN3 DYSF MYOT SGCB SGCG TCAP

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

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

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

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.35	CAPN3 SGCB SGCG TCAP TTN
2	muscle	MP:0005369	9.1	CAPN3 DYSF SGCB SGCG TCAP TTN

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

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

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

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

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

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

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TCAP	Titin-Cap	Protein Coding	17.81	DISEASES inferred ¹⁵
2	DYSF	Dysferlin	Protein Coding	16.91	DISEASES inferred ¹⁵
3	CAPN3	Calpain 3	Protein Coding	16.83	DISEASES inferred ¹⁵
4	SGCG	Sarcoglycan Gamma	Protein Coding	16.71	DISEASES inferred ¹⁵
5	MYOT	Myotilin	Protein Coding	16.6	DISEASES inferred ¹⁵
6	SGCB	Sarcoglycan Beta	Protein Coding	16.36	DISEASES inferred ¹⁵
7	TTN	Titin	Protein Coding	16.06	DISEASES inferred ¹⁵

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

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

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

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

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

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁷ Show member pathways Classical Kir channels ⁶⁷ Ion homeostasis ⁶⁷ Ion transport by P-type ATPases ⁶⁷ Muscle contraction ⁶⁷ Phase 1 - inactivation of fast Na+ channels ⁶⁷ Phase 3 - rapid repolarisation ⁶⁷ Phase 4 - resting membrane potential ⁶⁷ Physiological factors ⁶⁷ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁷ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁷ Tandem pore domain potassium channels ⁶⁷ TWIK related potassium channel (TREK) ⁶⁷ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁷ TWIK-related spinal cord K+ channel (TRESK) ⁶⁷ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁷	12.16	DYSF TCAP TTN
2	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁸ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹ Calpain Protease Regulates Cellular Mechanics ⁶⁵	11.54	CAPN3 SGCB SGCG
3	Dilated cardiomyopathy (DCM) ³⁸ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁸	11.04	SGCB SGCG TTN
4	Striated Muscle Contraction ¹ ⁶⁷	11.01	TCAP TTN

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

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

#	Name	GO ID	Score	Top Affiliating Genes
1	sarcomere	GO:0030017	9.4	TCAP TTN
2	T-tubule	GO:0030315	9.37	CAPN3 DYSF
3	I band	GO:0031674	9.32	TCAP TTN
4	sarcoglycan complex	GO:0016012	9.26	SGCB SGCG
5	Z disc	GO:0030018	9.26	CAPN3 MYOT TCAP TTN
6	dystroglycan complex	GO:0016011	9.16	SGCB SGCG
7	sarcolemma	GO:0042383	8.92	DYSF MYOT SGCB SGCG

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

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-containing complex assembly	GO:0065003	9.57	CAPN3 TCAP
2	regulation of catalytic activity	GO:0050790	9.56	CAPN3 TTN
3	response to calcium ion	GO:0051592	9.55	CAPN3 TTN
4	cardiac muscle contraction	GO:0060048	9.54	TCAP TTN
5	muscle filament sliding	GO:0030049	9.52	TCAP TTN
6	cardiac muscle tissue morphogenesis	GO:0055008	9.51	TCAP TTN
7	muscle contraction	GO:0006936	9.5	DYSF MYOT TTN
8	cardiac myofibril assembly	GO:0055003	9.49	TCAP TTN
9	cardiac muscle fiber development	GO:0048739	9.48	TCAP TTN
10	skeletal muscle thin filament assembly	GO:0030240	9.46	TCAP TTN
11	muscle fiber development	GO:0048747	9.43	DYSF SGCB
12	muscle organ development	GO:0007517	9.43	CAPN3 SGCB SGCG
13	cardiac muscle hypertrophy	GO:0003300	9.4	TCAP TTN
14	skeletal muscle myosin thick filament assembly	GO:0030241	9.37	TCAP TTN
15	detection of muscle stretch	GO:0035995	9.16	TCAP TTN
16	sarcomerogenesis	GO:0048769	8.96	TCAP TTN
17	sarcomere organization	GO:0045214	8.8	CAPN3 TCAP TTN

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

#	Name	GO ID	Score	Top Affiliating Genes
1	titin binding	GO:0031432	8.96	CAPN3 TCAP
2	structural constituent of muscle	GO:0008307	8.92	CAPN3 MYOT TCAP TTN

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

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