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: ³³

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 ³³ 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 limb-girdle muscular dystrophy. 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 Striated Muscle Contraction. Related phenotypes are cardiovascular system and homeostasis/metabolism

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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 44)

#	Related Disease	Score	Top Affiliating Genes
1	muscular dystrophy, limb-girdle, autosomal recessive 7	29.8	TTN TCAP MYOT FKRP DYSF CAPN3
2	limb-girdle muscular dystrophy	28.9	TTN TCAP SGCG MYOT FKRP DYSF
3	autosomal recessive limb-girdle muscular dystrophy	28.6	TCAP SGCG FKRP DYSF CAPN3
4	myopathy	28.4	TTN MYOT DYSF CAPN3
5	muscular dystrophy, limb-girdle, autosomal recessive 8	28.1	TTN TCAP FKRP DYSF CAPN3
6	muscular dystrophy, limb-girdle, autosomal recessive 6	27.4	TTN TCAP SGCG FKRP DYSF CAPN3
7	muscular dystrophy, limb-girdle, autosomal recessive 2	27.3	TTN TCAP MYOT FKRP DYSF CAPN3
8	muscular dystrophy	26.8	TTN TCAP SGCG MYOT FKRP DYSF
9	paresthesia	10.1	FKRP CAPN3
10	autosomal recessive limb-girdle muscular dystrophy type 2l	10.1	FKRP DYSF
11	muscular dystrophy, limb-girdle, autosomal recessive 1	10.1
12	muscular dystrophy, limb-girdle, autosomal recessive 5	10.1
13	muscular dystrophy, duchenne type	10.1
14	muscular dystrophy, limb-girdle, autosomal recessive 4	10.1
15	muscular dystrophy, limb-girdle, autosomal recessive 3	10.1
16	muscle hypertrophy	10.1
17	trabecular myopathy	10.1
18	qualitative or quantitative defects of sarcoglycan	10.1
19	dysferlinopathy	10.1	DYSF CAPN3
20	polyglucosan body myopathy 1 with or without immunodeficiency	10.1	FKRP CAPN3
21	bethlem myopathy 1	9.9	DYSF CAPN3
22	isolated hyperckemia	9.8	TCAP FKRP CAPN3
23	autosomal recessive limb-girdle muscular dystrophy type 2f	9.8	SGCG DYSF CAPN3
24	tibial muscular dystrophy	9.8	TTN CAPN3
25	autosomal recessive limb-girdle muscular dystrophy type 2c	9.7	SGCG DYSF CAPN3
26	autosomal recessive limb-girdle muscular dystrophy type 2b	9.7	SGCG DYSF CAPN3
27	familial isolated dilated cardiomyopathy	9.7	TTN TCAP
28	rigid spine muscular dystrophy 1	9.6	TTN DYSF
29	myopathy, myofibrillar, 3	9.6	TTN MYOT
30	myopathy, spheroid body	9.5	TTN MYOT
31	myositis	9.4	TTN DYSF CAPN3
32	muscular dystrophy, congenital, lmna-related	9.4	TTN FKRP
33	myofibrillar myopathy	9.3	TTN TCAP MYOT
34	autosomal recessive limb-girdle muscular dystrophy type 2d	9.3	SGCG FKRP DYSF CAPN3
35	atrial standstill 1	9.1	TTN MYOT FKRP
36	neuromuscular disease	9.1	TTN MYOT
37	autosomal recessive limb-girdle muscular dystrophy type 2h	9.1	SGCG MYOT FKRP CAPN3
38	miyoshi muscular dystrophy	8.9	TTN MYOT DYSF CAPN3
39	dilated cardiomyopathy	8.8	TTN TCAP SGCG FKRP
40	autosomal recessive limb-girdle muscular dystrophy type 2j	8.8	TTN MYOT FKRP CAPN3
41	muscle tissue disease	8.7	SGCG MYOT FKRP DYSF CAPN3
42	muscular dystrophy-dystroglycanopathy , type c, 5	8.7	TTN TCAP FKRP DYSF CAPN3
43	autosomal recessive limb-girdle muscular dystrophy type 2a	8.0	TTN SGCG MYOT FKRP DYSF CAPN3
44	muscular disease	7.9	TTN SGCG MYOT FKRP DYSF CAPN3

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:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.55	CAPN3 FKRP SGCG TCAP TTN
2	homeostasis/metabolism	MP:0005376	9.43	CAPN3 DYSF FKRP SGCG TCAP TTN
3	muscle	MP:0005369	9.1	CAPN3 DYSF FKRP 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

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

#	Title	Authors	PMID	Year
1	Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. ³⁸	Chamova T...Tournev I	29935994	2018
2	Functional muscle analysis of the Tcap knockout mouse. ³⁸	Markert CD...Childers MK	20233748	2010

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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	18.91	DISEASES inferred ¹⁵
2	DYSF	Dysferlin	Protein Coding	17.01	DISEASES inferred ¹⁵
3	CAPN3	Calpain 3	Protein Coding	16.95	DISEASES inferred ¹⁵
4	SGCG	Sarcoglycan Gamma	Protein Coding	16.67	DISEASES inferred ¹⁵
5	MYOT	Myotilin	Protein Coding	16.55	DISEASES inferred ¹⁵
6	TTN	Titin	Protein Coding	15.98	DISEASES inferred ¹⁵
7	FKRP	Fukutin Related Protein	Protein Coding	15.92	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 ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	11.86	TTN TCAP DYSF
2	Striated Muscle Contraction ¹ ⁶⁶	10.48	TTN TCAP

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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	9.32	TTN TCAP
2	T-tubule	GO:0030315	9.26	DYSF CAPN3
3	Z disc	GO:0030018	9.26	TTN TCAP MYOT CAPN3
4	I band	GO:0031674	9.16	TTN TCAP
5	sarcolemma	GO:0042383	8.92	SGCG MYOT FKRP DYSF

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-containing complex assembly	GO:0065003	9.56	TCAP CAPN3
2	muscle organ development	GO:0007517	9.55	SGCG CAPN3
3	regulation of catalytic activity	GO:0050790	9.54	TTN CAPN3
4	response to calcium ion	GO:0051592	9.52	TTN CAPN3
5	cardiac muscle contraction	GO:0060048	9.51	TTN TCAP
6	muscle filament sliding	GO:0030049	9.49	TTN TCAP
7	cardiac muscle tissue morphogenesis	GO:0055008	9.48	TTN TCAP
8	cardiac myofibril assembly	GO:0055003	9.46	TTN TCAP
9	cardiac muscle fiber development	GO:0048739	9.43	TTN TCAP
10	muscle contraction	GO:0006936	9.43	TTN MYOT DYSF
11	skeletal muscle thin filament assembly	GO:0030240	9.4	TTN TCAP
12	skeletal muscle myosin thick filament assembly	GO:0030241	9.37	TTN TCAP
13	cardiac muscle hypertrophy	GO:0003300	9.32	TTN TCAP
14	detection of muscle stretch	GO:0035995	9.16	TTN TCAP
15	sarcomerogenesis	GO:0048769	8.96	TTN TCAP
16	sarcomere organization	GO:0045214	8.8	TTN TCAP CAPN3

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	TCAP CAPN3
2	structural constituent of muscle	GO:0008307	8.92	TTN TCAP MYOT CAPN3

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