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: ³²

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 ³² 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 muscular dystrophy, limb-girdle, autosomal recessive 8. 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). Affiliated tissues include eye and brain, and 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 top 50) (show all 80)

#	Related Disease	Score	Top Affiliating Genes
1	muscular dystrophy, limb-girdle, autosomal recessive 7	31.4	TTN TRIM32 TCAP MYOT FKRP DYSF
2	muscular dystrophy, limb-girdle, autosomal recessive 8	29.1	TTN TRIM32 TCAP FKRP DYSF CAPN3
3	muscular dystrophy, duchenne type	28.7	TTN TCAP SGCD SGCA CAV3
4	limb-girdle muscular dystrophy	28.2	TTN TRIM32 TCAP SGCG SGCD SGCA
5	muscular dystrophy, limb-girdle, autosomal recessive 6	27.7	TTN TRIM32 TCAP SGCG SGCD SGCA
6	myopathy	26.8	TTN TRIM32 TCAP SGCA MYOT FKRP
7	muscular dystrophy	26.1	TTN TRIM32 TCAP SGCG SGCD SGCA
8	autosomal recessive limb-girdle muscular dystrophy	25.9	TTN TRIM32 TCAP SGCG SGCD SGCA
9	muscular dystrophy, limb-girdle, autosomal recessive 2	25.9	TTN TRIM32 TCAP SGCG SGCD SGCA
10	paresthesia	10.3	FKRP CAPN3
11	dysferlinopathy	10.3	DYSF CAPN3
12	polyglucosan body myopathy 1 with or without immunodeficiency	10.2	FKRP CAPN3
13	autosomal recessive limb-girdle muscular dystrophy type 2w	10.1	MYOT ANO5
14	myopathy, myofibrillar, 5	10.1	TTN MYOT
15	muscular dystrophy-dystroglycanopathy , type a, 4	10.1	FKRP DYSF DCAF8
16	reducing body myopathy	10.1	TTN TCAP MYOT
17	muscular dystrophy, limb-girdle, autosomal recessive 1	10.1
18	muscular dystrophy, limb-girdle, autosomal recessive 5	10.1
19	muscular dystrophy, limb-girdle, autosomal recessive 4	10.1
20	muscular dystrophy, limb-girdle, autosomal recessive 3	10.1
21	muscle hypertrophy	10.1
22	qualitative or quantitative defects of sarcoglycan	10.1
23	myopathy, myofibrillar, 1	10.1	TTN MYOT DCAF8
24	muscular dystrophy-dystroglycanopathy , type c, 2	10.1	FKRP ANO5
25	muscular dystrophy-dystroglycanopathy , type c, 3	10.1	FKRP ANO5
26	congenital fiber-type disproportion	10.0	TTN MYOT DYSF
27	muscular dystrophy-dystroglycanopathy , type c, 9	10.0	MYOT DYSF ANO5
28	congenital structural myopathy	10.0	TTN MYOT
29	miyoshi muscular dystrophy 3	10.0	DYSF CAPN3 ANO5
30	familial isolated dilated cardiomyopathy	10.0	TTN TCAP SGCD
31	myopathy, spheroid body	10.0	TRIM32 TCAP MYOT
32	myositis	9.9	TTN DYSF CAPN3
33	muscular dystrophy, congenital merosin-deficient, 1a	9.9	SGCA FKRP DYSF
34	muscular dystrophy, limb-girdle, type 1h	9.9	MYOT CAV3
35	left ventricular noncompaction	9.9	TTN TCAP MYOT
36	total anomalous pulmonary venous return 1	9.8	SGCD ANKRD2
37	muscle eye brain disease	9.8	SGCA FKRP
38	ullrich congenital muscular dystrophy 1	9.7	SGCA FKRP DYSF CAPN3
39	rippling muscle disease 2	9.7	FKRP DYSF CAV3
40	glycogen storage disease ii	9.7	FKRP DCAF8 CAV3
41	rigid spine muscular dystrophy 1	9.7	TTN MYOT FKRP DYSF CAPN3
42	facioscapulohumeral muscular dystrophy 1	9.7	TTN MYOT FKRP DYSF CAPN3
43	isolated elevated serum creatine phosphokinase levels	9.6	TCAP CAV3 ANO5
44	creatine phosphokinase, elevated serum	9.6	TCAP CAV3 ANO5
45	centronuclear myopathy	9.6	TTN DYSF CAV3
46	autosomal recessive limb-girdle muscular dystrophy type 2x	9.4	MYOT DYSF CAV3 ANO5
47	intrinsic cardiomyopathy	9.4	TTN TCAP SGCD CAV3
48	autosomal dominant limb-girdle muscular dystrophy	9.4	MYOT CAV3 CAPN3 ANO5
49	hypertrophic cardiomyopathy	9.3	TTN TCAP SGCD CAV3
50	muscular dystrophy, limb-girdle, autosomal dominant 3	9.3	SGCD MYOT CAV3 ANO5

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:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.81	ANKRD2 CAPN3 CAV3 FKRP SGCA SGCD
2	homeostasis/metabolism	MP:0005376	9.7	ANO5 CAPN3 CAV3 DYSF FKRP SGCA
3	muscle	MP:0005369	9.4	ANKRD2 ANO5 CAPN3 CAV3 DYSF FKRP

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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

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

⁴⁰

Eye, Brain

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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. ⁶¹	Chamova T...Tournev I	29935994	2018
2	Functional muscle analysis of the Tcap knockout mouse. ⁶¹	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):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TCAP	Titin-Cap	Protein Coding	9	DISEASES inferred ¹⁵
2	DCAF8	DDB1 And CUL4 Associated Factor 8	Protein Coding	8.16	DISEASES inferred ¹⁵ ¹⁵
3	DYSF	Dysferlin	Protein Coding	7.76	DISEASES inferred ¹⁵
4	MYOT	Myotilin	Protein Coding	7.58	DISEASES inferred ¹⁵
5	CAPN3	Calpain 3	Protein Coding	7.37	DISEASES inferred ¹⁵
6	FKRP	Fukutin Related Protein	Protein Coding	7.28	DISEASES inferred ¹⁵
7	TTN	Titin	Protein Coding	7.15	DISEASES inferred ¹⁵
8	SGCG	Sarcoglycan Gamma	Protein Coding	6.86	DISEASES inferred ¹⁵
9	SGCD	Sarcoglycan Delta	Protein Coding	6.7	DISEASES inferred ¹⁵
10	ANO5	Anoctamin 5	Protein Coding	6.52	DISEASES inferred ¹⁵
11	TRIM32	Tripartite Motif Containing 32	Protein Coding	6.43	DISEASES inferred ¹⁵
12	ANKRD2	Ankyrin Repeat Domain 2	Protein Coding	6.42	DISEASES inferred ¹⁵
13	CAV3	Caveolin 3	Protein Coding	6.41	DISEASES inferred ¹⁵
14	SGCA	Sarcoglycan Alpha	Protein Coding	6.36	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 ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.18	TTN TCAP DYSF CAV3
2	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁶ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹	11.32	SGCG SGCD SGCA
3	Dilated cardiomyopathy (DCM) ³⁶ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁶	11.19	TTN SGCG SGCD SGCA
4	Smooth Muscle Contraction ⁶⁵	10.81	DYSF CAV3

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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	cytoplasm	GO:0005737	10.21	TTN TRIM32 TCAP SGCG SGCD SGCA
2	Z disc	GO:0030018	9.65	TTN TCAP MYOT CAV3 CAPN3
3	sarcomere	GO:0030017	9.63	TTN TCAP ANKRD2
4	T-tubule	GO:0030315	9.58	DYSF CAV3 CAPN3
5	I band	GO:0031674	9.54	TTN TCAP ANKRD2
6	dystrophin-associated glycoprotein complex	GO:0016010	9.5	SGCD SGCA CAV3
7	sarcoglycan complex	GO:0016012	9.33	SGCG SGCD SGCA
8	sarcolemma	GO:0042383	9.17	SGCG SGCD SGCA MYOT FKRP DYSF
9	dystroglycan complex	GO:0016011	9.13	SGCG SGCD SGCA

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

(show all 21)

#	Name	GO ID	Score	Top Affiliating Genes
1	cardiac muscle contraction	GO:0060048	9.61	TTN TCAP SGCD
2	muscle filament sliding	GO:0030049	9.6	TTN TCAP
3	skeletal muscle tissue regeneration	GO:0043403	9.59	SGCA DYSF
4	cardiac muscle tissue development	GO:0048738	9.58	SGCG SGCD
5	positive regulation of proteolysis	GO:0045862	9.58	TRIM32 CAPN3
6	sarcomere organization	GO:0045214	9.58	TTN TCAP CAPN3
7	heart contraction	GO:0060047	9.57	SGCG SGCD
8	cardiac myofibril assembly	GO:0055003	9.56	TTN TCAP
9	cardiac muscle tissue morphogenesis	GO:0055008	9.55	TTN TCAP
10	plasma membrane repair	GO:0001778	9.54	DYSF CAV3
11	cardiac muscle hypertrophy	GO:0003300	9.52	TTN TCAP
12	regulation of calcium ion import	GO:0090279	9.51	DYSF CAV3
13	muscle cell cellular homeostasis	GO:0046716	9.5	TRIM32 CAV3 CAPN3
14	skeletal muscle thin filament assembly	GO:0030240	9.49	TTN TCAP
15	T-tubule organization	GO:0033292	9.48	DYSF CAV3
16	skeletal muscle myosin thick filament assembly	GO:0030241	9.46	TTN TCAP
17	cardiac muscle fiber development	GO:0048739	9.43	TTN TCAP SGCD
18	muscle contraction	GO:0006936	9.43	TTN SGCA MYOT DYSF CAV3 ANKRD2
19	sarcomerogenesis	GO:0048769	9.37	TTN TCAP
20	detection of muscle stretch	GO:0035995	9.33	TTN TCAP CAV3
21	muscle organ development	GO:0007517	9.1	SGCG SGCD SGCA CAV3 CAPN3 ANKRD2

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	alpha-tubulin binding	GO:0043014	9.16	DYSF CAV3
2	titin binding	GO:0031432	9.13	TCAP CAPN3 ANKRD2
3	structural constituent of muscle	GO:0008307	9.02	TTN TCAP MYOT CAPN3 ANKRD2

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