MCID: LMB006
MIFTS: 55

Limb-Girdle Muscular Dystrophy

Categories: Rare diseases, Muscle diseases, Metabolic diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Limb-Girdle Muscular Dystrophy

MalaCards integrated aliases for Limb-Girdle Muscular Dystrophy:

Name: Limb-Girdle Muscular Dystrophy 23 49 24 36 28
Lgmd 23 49 24
Muscular Dystrophies, Limb-Girdle 69
Limb Girdle Muscular Dystrophy 49
Myopathic Limb-Girdle Syndrome 24
Muscular Dystrophy Limb-Girdle 51
Limb-Girdle Syndrome 24
Limb Girdle 51

Classifications:



External Ids:

KEGG 36 H00593
UMLS 69 C0686353

Summaries for Limb-Girdle Muscular Dystrophy

NIH Rare Diseases : 49 Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are affected in equal numbers. Most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Several rare forms are inherited in an autosomal dominant pattern. While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. There are at least 20 different types of limb-girdle muscular dystrophy. Last updated: 12/17/2015

MalaCards based summary : Limb-Girdle Muscular Dystrophy, also known as lgmd, is related to autosomal dominant limb-girdle muscular dystrophy type 1g and autosomal recessive limb-girdle muscular dystrophy type 2f. An important gene associated with Limb-Girdle Muscular Dystrophy is LMNA (Lamin A/C), and among its related pathways/superpathways are Other types of O-glycan biosynthesis and Mannose type O-glycan biosynthesis. The drugs Lisinopril and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes, and related phenotypes are behavior/neurological and cardiovascular system

Genetics Home Reference : 24 Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.

Wikipedia : 72 Limb-girdle muscular dystrophy (LGMD) or Erb\'s muscular dystrophy is a genetically and clinically... more...

GeneReviews: NBK1408

Related Diseases for Limb-Girdle Muscular Dystrophy

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 Limb-Girdle Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant limb-girdle muscular dystrophy type 1g 34.3 DNAJB6 MYOT TNPO3
2 autosomal recessive limb-girdle muscular dystrophy type 2f 33.9 CAPN3 DYSF SGCA SGCB SGCD SGCG
3 autosomal recessive limb-girdle muscular dystrophy type 2b 33.8 ANO5 CAPN3 CAV3 DYSF SGCA SGCG
4 muscular dystrophy, limb-girdle, type 1h 33.8 DNAJB6 MYOT TNPO3
5 autosomal dominant limb-girdle muscular dystrophy 33.8 CAV3 DNAJB6 LMNA MYOT TNPO3
6 muscular dystrophy, limb-girdle, type 1b 33.7 CAV3 DNAJB6 LMNA TNPO3
7 autosomal recessive limb-girdle muscular dystrophy type 2e 33.6 CAPN3 DNAJB6 SGCB SGCD SGCG TNPO3
8 muscular dystrophy, limb-girdle, type 1f 33.6 CAV3 DNAJB6 MYOT TNPO3
9 muscular dystrophy, limb-girdle, type 1c 33.5 CAV3 DYSF FKRP
10 muscular dystrophy, limb-girdle, type 2q 33.4 DNAJB6 PLEC TNPO3
11 autosomal recessive limb-girdle muscular dystrophy type 2h 33.4 CAPN3 DYSF FKRP MYOT SGCG TRIM32
12 autosomal dominant limb-girdle muscular dystrophy type 1c 33.2 CAV3 DNAJB6 DYSF FKRP MYOT TNPO3
13 muscular dystrophy, limb-girdle, type 2c 33.2 CAPN3 DMD DYSF SGCA SGCD SGCG
14 muscular dystrophy, limb-girdle, type 1a 33.1 CAPN3 CAV3 FKRP MYOT TRIM32
15 muscular dystrophy, limb-girdle, type 2j 33.1 CAPN3 FKRP MYOT TTN
16 dysferlinopathy 32.9 CAPN3 DYSF
17 muscular dystrophy-dystroglycanopathy , type c, 4 32.9 FKRP FKTN
18 muscular dystrophy, limb-girdle, type 2g 32.9 CAPN3 DYSF FKRP MYOT TCAP TRIM32
19 muscular dystrophy, limb-girdle, type 2d 32.7 CAPN3 DYSF FKRP SGCA SGCB SGCD
20 muscular dystrophy-dystroglycanopathy , type c, 5 32.7 CAPN3 DYSF FKRP TCAP TRIM32 TTN
21 muscular dystrophy, limb-girdle, type 1e 32.7 CAV3 DNAJB6 FKRP MYOT TNPO3
22 muscular dystrophy, limb-girdle, type 2l 32.6 ANO5 DYSF FKRP FKTN
23 muscular dystrophy, limb-girdle, type 2h 32.2 CAPN3 DYSF FKRP TCAP TRIM32 TTN
24 rippling muscle disease 2 32.0 CAV3 DYSF
25 autosomal recessive limb-girdle muscular dystrophy 31.8 ANO5 CAPN3 CAV3 DMD DYSF FKRP
26 muscular dystrophy, becker type 31.7 DMD DYSF FKTN SGCA
27 miyoshi muscular dystrophy 1 31.4 CAPN3 DYSF
28 muscular dystrophy, limb-girdle, type 2b 31.0 CAPN3 CAV3 DMD DYSF FKRP MYOT
29 muscular dystrophy, limb-girdle, type 2f 30.8 CAPN3 DMD DYSF FKRP SGCA SGCB
30 bethlem myopathy 1 30.4 CAPN3 DMD DYSF LMNA
31 myositis 30.2 CAPN3 DMD DYSF TTN
32 muscular dystrophy-dystroglycanopathy , type a, 1 30.0 FKRP FKTN
33 muscular dystrophy, congenital, lmna-related 29.9 FKRP FKTN LMNA
34 muscular dystrophy, limb-girdle, type 2a 29.7 ANO5 CAPN3 CAV3 DMD DNAJB6 DYSF
35 isolated hyperckemia 29.6 CAPN3 CAV3 DMD FKRP TCAP
36 walker-warburg syndrome 29.2 DMD FKRP FKTN SGCA
37 muscular dystrophy-dystroglycanopathy , type b, 5 29.0 CAV3 DMD FKRP FKTN LMNA
38 muscular dystrophy, duchenne type 28.3 CAV3 DMD FKTN SGCA SGCB SGCD
39 myopathy 27.3 ANO5 CAPN3 CAV3 DMD DNAJB6 DYSF
40 dilated cardiomyopathy 27.0 DMD FKRP FKTN LMNA SGCA SGCB
41 muscular dystrophy 26.0 ANO5 CAPN3 CAV3 DMD DNAJB6 DYSF
42 limb-girdle muscular dystrophy, type 1g 12.8
43 muscular dystrophy-dystroglycanopathy , type c, 3 12.3
44 muscular dystrophy-dystroglycanopathy , type c, 14 12.2
45 muscular dystrophy-dystroglycanopathy , type c, 1 12.2
46 muscular dystrophy, limb-girdle, type 2r 12.2
47 muscular dystrophy, limb-girdle, type 2x 12.2
48 muscular dystrophy, limb-girdle, type 2w 12.2
49 muscular dystrophy-dystroglycanopathy , type c, 2 12.1
50 muscular dystrophy-dystroglycanopathy , type c, 9 12.1

Graphical network of the top 20 diseases related to Limb-Girdle Muscular Dystrophy:



Diseases related to Limb-Girdle Muscular Dystrophy

Symptoms & Phenotypes for Limb-Girdle Muscular Dystrophy

MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 DMD DYSF FKRP FKTN LMNA PLEC
2 cardiovascular system MP:0005385 10.1 TCAP TTN CAPN3 CAV3 DMD FKRP
3 growth/size/body region MP:0005378 10 DMD DNAJB6 FKRP CAPN3 FKTN LMNA
4 homeostasis/metabolism MP:0005376 10 CAPN3 CAV3 DMD DYSF FKRP FKTN
5 immune system MP:0005387 9.65 CAV3 DMD DYSF FKRP FKTN LMNA
6 muscle MP:0005369 9.5 CAPN3 CAV3 DMD DYSF FKRP FKTN

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy

Drugs for Limb-Girdle Muscular Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
2
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
3 Ubiquinone Phase 2, Phase 3
4
protease inhibitors Phase 2, Phase 3
5 Micronutrients Phase 2, Phase 3
6 Trace Elements Phase 2, Phase 3
7 HIV Protease Inhibitors Phase 2, Phase 3
8 Vitamins Phase 2, Phase 3
9 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
10 Antihypertensive Agents Phase 2, Phase 3
11 Protective Agents Phase 2, Phase 3
12 Tin Fluorides Phase 1, Phase 2
13 Vaccines Phase 1

Interventional clinical trials:

(show all 24)

# Name Status NCT ID Phase Drugs
1 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
2 The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
3 Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophy Completed NCT02836418 Phase 1, Phase 2 ATYR1940
4 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
5 Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Active, not recruiting NCT01976091 Phase 1, Phase 2 scAAVrh74.tMCK.hSGCA
6 A Trial of PF-06252616 in Ambulatory Participants With LGMD2I Active, not recruiting NCT02841267 Phase 1, Phase 2 PF 06252616
7 Cell Therapy in Limb Girdle Muscular Dystrophy Completed NCT02245711 Phase 1
8 Stem Cell Therapy in Limb Girdle Muscular Dystrophy Completed NCT02050776 Phase 1
9 Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1
10 Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1
11 Safety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy Completed NCT00873782 Phase 1
12 rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies Active, not recruiting NCT02710500 Phase 1 rAAVrh74.MHCK7.DYSF.DV
13 Limb Girdle Muscular Dystrophy (LGMD) Natural History Completed NCT01783509
14 Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
15 Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy Completed NCT00457912
16 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
17 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
18 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
19 Cardiac Magnetic Resonance in Children With Muscular Dystrophy Completed NCT01081080
20 Cardiac Outcome Measures in Children With Muscular Dystrophy Completed NCT01066455
21 Molecular Analysis of Patients With Neuromuscular Disease Recruiting NCT00390104
22 Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular Disorders Recruiting NCT02833168
23 Acceptance and Commitment Therapy for Muscle Disease Recruiting NCT02810028
24 Clinical Outcome Study for Dysferlinopathy Active, not recruiting NCT01676077

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy

Genetic Tests for Limb-Girdle Muscular Dystrophy

Genetic tests related to Limb-Girdle Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy 28 DYSF SGCB SGCD

Anatomical Context for Limb-Girdle Muscular Dystrophy

MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy:

38
Skeletal Muscle, Heart, Testes, Bone, Myeloid, Pituitary, Monocytes

Publications for Limb-Girdle Muscular Dystrophy

Articles related to Limb-Girdle Muscular Dystrophy:

(show top 50) (show all 509)
# Title Authors Year
1
Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report. ( 29387327 )
2018
2
Repairing folding-defective I+-sarcoglycan mutants by CFTR correctors, a potential therapy for Limb Girdle Muscular Dystrophy 2D. ( 29351619 )
2018
3
Siblings With Mutations in TRAPPC11 Presenting With Limb-Girdle Muscular Dystrophy 2S. ( 28827486 )
2017
4
Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation. ( 28794355 )
2017
5
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients. ( 28931339 )
2017
6
SEXUALLY DIMORPHIC SKELETAL MUSCLE AND CARDIAC DYSFUNCTION IN A MOUSE MODEL OF LIMB GIRDLE MUSCULAR DYSTROPHY 2I. ( 28663375 )
2017
7
Intermittent Glucocorticoid Dosing Improves Muscle Repair and Function in Mice with Limb-Girdle Muscular Dystrophy. ( 28823869 )
2017
8
Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. ( 28702169 )
2017
9
Skeletal Muscle Contractile Properties in a Novel Murine Model for Limb Girdle Muscular Dystrophy 2i. ( 28860175 )
2017
10
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. ( 28877744 )
2017
11
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy. ( 28803818 )
2017
12
Limb girdle muscular dystrophy due to mutations in<i>POMT2</i>. ( 29175898 )
2017
13
Limb-girdle muscular dystrophy: What nurses need to know. ( 28640052 )
2017
14
Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene. ( 28883879 )
2017
15
Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I. ( 28666318 )
2017
16
Treatment with Recombinant Human MG53 Protein Increases Membrane Integrity in a Mouse Model of Limb Girdle Muscular Dystrophy 2B. ( 28750735 )
2017
17
Dystrophinopathies and Limb-Girdle Muscular Dystrophies. ( 28427100 )
2017
18
Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi). ( 29034878 )
2017
19
Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset. ( 28785732 )
2017
20
Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F. ( 28593034 )
2017
21
Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. ( 28697784 )
2017
22
Cardiopulmonary involvement in limb girdle muscular dystrophy 2A. ( 28786117 )
2017
23
Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation. ( 28103310 )
2017
24
Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy. ( 28502335 )
2017
25
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. ( 28478914 )
2017
26
DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B. ( 29159199 )
2017
27
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. ( 28433477 )
2017
28
Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing. ( 28615910 )
2017
29
Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F. ( 28797108 )
2017
30
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. ( 27874200 )
2017
31
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis. ( 27184587 )
2017
32
Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I. ( 27872178 )
2017
33
Treadmill Training with HAL Exoskeleton-A Novel Approach for Symptomatic Therapy in Patients with Limb-Girdle Muscular Dystrophy-Preliminary Study. ( 28848377 )
2017
34
Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy). ( 27005420 )
2016
35
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. ( 26944168 )
2016
36
Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1I+ Acetylation. ( 27974213 )
2016
37
Case of limb-girdle muscular dystrophy for total thyroidectomy: Anaesthetic management. ( 27212726 )
2016
38
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. ( 26934379 )
2016
39
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). ( 27766311 )
2016
40
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. ( 27020652 )
2016
41
Glucocorticoid Steroid and Alendronate Treatment Alleviates Dystrophic Phenotype with Enhanced Functional Glycosylation of I+-Dystroglycan in Mouse Model of Limb-Girdle Muscular Dystrophy with FKRPP448L Mutation. ( 27109613 )
2016
42
Health perceptions of young adults living with recessive limb-girdle muscular dystrophy. ( 27005675 )
2016
43
An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles. ( 27220833 )
2016
44
A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D. ( 27093116 )
2016
45
The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies. ( 27922502 )
2016
46
Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del. ( 27585670 )
2016
47
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. ( 27142102 )
2016
48
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. ( 27342937 )
2016
49
Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy. ( 26670295 )
2016
50
Severe murine limb girdle muscular dystrophy type 2C pathology is diminished by FTY720 treatment. ( 27935071 )
2016

Variations for Limb-Girdle Muscular Dystrophy

ClinVar genetic disease variations for Limb-Girdle Muscular Dystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh37 Chromosome 1, 156105901: 156105901
2 LMNA NM_170707.3(LMNA): c.1608+1G> A single nucleotide variant Pathogenic rs267607592 GRCh37 Chromosome 1, 156107024: 156107024
3 LMNA NM_170707.3(LMNA): c.1609-3C> G single nucleotide variant Pathogenic/Likely pathogenic rs267607581 GRCh37 Chromosome 1, 156107442: 156107442

Expression for Limb-Girdle Muscular Dystrophy

Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy.

Pathways for Limb-Girdle Muscular Dystrophy

Pathways related to Limb-Girdle Muscular Dystrophy according to KEGG:

36
# Name Kegg Source Accession
1 Other types of O-glycan biosynthesis hsa00514
2 Mannose type O-glycan biosynthesis hsa00515
3 Endocytosis hsa04144
4 Focal adhesion hsa04510
5 Tight junction hsa04530
6 Ubiquitin mediated proteolysis hsa04120

Pathways related to Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 CAV3 DMD DYSF TCAP TTN
2
Show member pathways
12.4 DMD SGCA SGCB SGCD SGCG
3
Show member pathways
11.9 CAPN3 DMD LMNA SGCA SGCB SGCD
4
Show member pathways
11.41 DMD LMNA SGCA SGCB SGCD SGCG
5 11.19 DMD TCAP TTN
6 10.73 FKRP FKTN

GO Terms for Limb-Girdle Muscular Dystrophy

Cellular components related to Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.98 DMD MYOT PLEC SGCA SGCB SGCD
2 Z disc GO:0030018 9.7 CAPN3 CAV3 DMD DNAJB6 MYOT TCAP
3 sarcoglycan complex GO:0016012 9.62 SGCA SGCB SGCD SGCG
4 dystroglycan complex GO:0016011 9.56 SGCA SGCB SGCD SGCG
5 T-tubule GO:0030315 9.54 CAPN3 CAV3 DYSF
6 I band GO:0031674 9.49 TCAP TTN
7 costamere GO:0043034 9.48 DMD PLEC
8 dystrophin-associated glycoprotein complex GO:0016010 9.43 CAV3 DMD FKRP SGCA SGCB SGCD
9 sarcolemma GO:0042383 9.32 CAV3 DMD DYSF FKRP MYOT PLEC
10 cytoplasm GO:0005737 10.25 CAPN3 CAV3 DMD DNAJB6 MYOT PLEC
11 plasma membrane GO:0005886 10.23 ANO5 CAPN3 CAV3 DMD DYSF FKRP

Biological processes related to Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.71 SGCA SGCB SGCD SGCG
2 cardiac muscle contraction GO:0060048 9.67 DMD TCAP TTN
3 muscle contraction GO:0006936 9.65 CAV3 DYSF MYOT SGCA TTN
4 cardiac muscle tissue development GO:0048738 9.64 SGCD SGCG
5 skeletal muscle tissue regeneration GO:0043403 9.63 DMD SGCA
6 positive regulation of proteolysis GO:0045862 9.63 CAPN3 TRIM32
7 sarcomere organization GO:0045214 9.63 CAPN3 TCAP TTN
8 response to muscle stretch GO:0035994 9.62 DMD TCAP
9 heart contraction GO:0060047 9.62 SGCD SGCG
10 protein O-linked mannosylation GO:0035269 9.61 FKRP FKTN
11 muscle fiber development GO:0048747 9.61 DMD SGCB
12 muscle filament sliding GO:0030049 9.61 DMD TCAP TTN
13 cardiac myofibril assembly GO:0055003 9.6 TCAP TTN
14 cardiac muscle tissue morphogenesis GO:0055008 9.59 TCAP TTN
15 response to denervation involved in regulation of muscle adaptation GO:0014894 9.58 DMD SGCA
16 cardiac muscle hypertrophy GO:0003300 9.58 TCAP TTN
17 cardiac muscle fiber development GO:0048739 9.57 TCAP TTN
18 muscle cell development GO:0055001 9.56 SGCD SGCG
19 plasma membrane repair GO:0001778 9.55 CAV3 DYSF
20 cardiac muscle cell development GO:0055013 9.54 CAV3 SGCB
21 skeletal muscle thin filament assembly GO:0030240 9.52 TCAP TTN
22 nucleus localization GO:0051647 9.51 CAV3 DMD
23 regulation of skeletal muscle contraction GO:0014819 9.48 CAV3 DMD
24 skeletal muscle myosin thick filament assembly GO:0030241 9.37 TCAP TTN
25 detection of muscle stretch GO:0035995 9.33 CAV3 TCAP TTN
26 sarcomerogenesis GO:0048769 9.32 TCAP TTN
27 muscle cell cellular homeostasis GO:0046716 9.26 CAPN3 CAV3 DMD TRIM32
28 muscle organ development GO:0007517 9.23 CAPN3 CAV3 DMD FKTN SGCA SGCB

Molecular functions related to Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myosin binding GO:0017022 9.26 DMD TRIM32
2 nitric-oxide synthase binding GO:0050998 9.16 CAV3 DMD
3 structural constituent of muscle GO:0008307 9.1 CAPN3 DMD MYOT PLEC TCAP TTN
4 titin binding GO:0031432 8.96 CAPN3 TCAP

Sources for Limb-Girdle Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....