MCID: ATS331
MIFTS: 37

Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy 12 58 15
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 54
Limb-Girdle Muscular Dystrophy, Autosomal Recessive 29

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110274
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C2931907
Orphanet 58 ORPHA102015

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Disease Ontology : 12 A limb-girdle muscular dystrophy has material basis in autosomal recessive inheritance.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy, also known as muscular dystrophy, limb-girdle, autosomal recessive, is related to autosomal recessive limb-girdle muscular dystrophy type 2w and autosomal recessive limb-girdle muscular dystrophy type 2x. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy is DYSF (Dysferlin), and among its related pathways/superpathways are Allograft rejection and Cardiac conduction. Affiliated tissues include skeletal muscle, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x Limb-Girdle Muscular Dystrophy Type 1a
Limb-Girdle Muscular Dystrophy Type 1b Limb-Girdle Muscular Dystrophy Type 1c
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

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

(show top 50) (show all 141)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2w 34.8 TRAPPC11 POGLUT1 ANO5
2 autosomal recessive limb-girdle muscular dystrophy type 2x 34.6 POGLUT1 DYSF CAV3 ANO5
3 autosomal recessive limb-girdle muscular dystrophy type 2q 34.4 TRAPPC11 TCAP PLEC DYSF ANO5
4 muscular dystrophy-dystroglycanopathy , type c, 9 34.2 TRAPPC11 DYSF
5 muscular dystrophy-dystroglycanopathy , type c, 7 34.1 TRAPPC11 ANO5
6 muscular dystrophy-dystroglycanopathy , type c, 14 34.1 TRAPPC11 ANO5
7 muscular dystrophy-dystroglycanopathy , type c, 3 33.8 POMT1 FKRP ANO5
8 autosomal recessive limb-girdle muscular dystrophy type 2h 33.7 TRIM32 TCAP SGCD SGCA FKRP DYSF
9 autosomal recessive limb-girdle muscular dystrophy type 2f 33.5 TCAP SGCD SGCB SGCA FKRP DYSF
10 muscular dystrophy-dystroglycanopathy , type c, 1 33.5 TRIM32 SGCD POMT1 FKRP DYSF ANO5
11 muscular dystrophy-dystroglycanopathy , type c, 2 33.5 TRIM32 POMT1 FKRP ANO5
12 autosomal recessive limb-girdle muscular dystrophy type 2l 33.4 SGCD SGCA POMT1 LAMA2 FKRP DYSF
13 muscular dystrophy-dystroglycanopathy , type c, 4 33.4 TRIM32 POMT1 FKRP DYSF CAPN3 ANO5
14 autosomal recessive limb-girdle muscular dystrophy type 2b 33.2 TCAP SGCD SGCA LAMA2 FKRP DYSF
15 muscular dystrophy, limb-girdle, autosomal recessive 8 33.2 TTN TRIM32 TCAP FKRP DYSF CAPN3
16 autosomal recessive limb-girdle muscular dystrophy type 2j 33.2 POMT1 FKRP DYSF CAV3 CAPN3 TTN
17 autosomal recessive limb-girdle muscular dystrophy type 2c 33.1 TCAP SGCD SGCB SGCA LAMA2 FKRP
18 muscular dystrophy, limb-girdle, autosomal recessive 7 33.0 TTN TRIM32 TCAP FKRP DYSF DMD
19 autosomal recessive limb-girdle muscular dystrophy type 2g 32.8 TTN TRIM32 TCAP SGCD SGCA POMT1
20 myopathy, myofibrillar, 1 32.7 TTN PLEC DMD DES CAPN3
21 muscular dystrophy-dystroglycanopathy , type c, 5 32.6 TTN TRIM32 TCAP SGCA POMT1 LAMA2
22 muscular dystrophy, limb-girdle, autosomal recessive 6 32.5 TTN TRIM32 TCAP SGCD SGCB SGCA
23 autosomal recessive limb-girdle muscular dystrophy type 2d 32.4 TTN TCAP SGCD SGCB SGCA POMT1
24 autosomal recessive limb-girdle muscular dystrophy type 2a 32.4 TTN TRIM32 TCAP SGCD SGCB SGCA
25 ullrich congenital muscular dystrophy 1 32.2 SGCD SGCA LAMA2 FKRP DYSF DMD
26 muscular dystrophy, limb-girdle, autosomal recessive 2 31.8 TTN TRIM32 TRAPPC11 TCAP SGCD SGCB
27 dysferlinopathy 31.1 DYSF CAPN3
28 autosomal dominant limb-girdle muscular dystrophy 30.7 TCAP DYSF CAV3 CAPN3
29 rippling muscle disease 2 30.7 FKRP DYSF CAV3
30 ablepharon-macrostomia syndrome 30.4 POMT1 FKRP
31 muscular dystrophy-dystroglycanopathy , type a, 4 30.3 SGCA POMT1 LAMA2 FKRP DMD
32 muscular dystrophy, duchenne type 29.9 TTN TCAP SGCD SGCB SGCA LAMA2
33 muscular dystrophy, becker type 29.7 SGCD SGCA LAMA2 FKRP DYSF DMD
34 hypertrophic cardiomyopathy 29.5 TTN TCAP SGCD SGCB SGCA LAMA2
35 myofibrillar myopathy 29.1 TTN TCAP PLEC GNE DYSF DMD
36 limb-girdle muscular dystrophy 28.8 TTN TRIM32 TRAPPC11 TCAP SGCD SGCB
37 miyoshi muscular dystrophy 28.6 TTN TCAP SGCD SGCA GNE FKRP
38 muscular dystrophy, congenital, lmna-related 28.6 TTN TRAPPC11 POMT1 PLEC LAMA2 FKRP
39 neuromuscular disease 28.5 TTN TCAP SGCD SGCB SGCA LAMA2
40 walker-warburg syndrome 28.0 TRAPPC11 SGCD SGCA POMT1 POGLUT1 PLEC
41 muscular dystrophy 27.6 TTN TRIM32 TRAPPC11 TCAP SGCD SGCB
42 myopathy 27.0 TTN TRIM32 TRAPPC11 TCAP SGCD SGCB
43 muscular dystrophy, limb-girdle, autosomal recessive 17 12.5
44 muscular dystrophy, limb-girdle, autosomal recessive 1 12.5
45 muscular dystrophy, limb-girdle, autosomal recessive 3 12.5
46 muscular dystrophy, limb-girdle, autosomal recessive 18 12.2
47 muscular dystrophy, limb-girdle, autosomal recessive 25 12.2
48 muscular dystrophy, limb-girdle, autosomal recessive 21 12.2
49 muscular dystrophy, limb-girdle, autosomal recessive 5 12.2
50 muscular dystrophy, limb-girdle, autosomal recessive 12 12.1

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



Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy

Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy

GenomeRNAi Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.81 CAPN3
2 Decreased viability GR00055-A-2 9.81 CAPN3
3 Decreased viability GR00055-A-3 9.81 CAPN3
4 Decreased viability GR00154-A 9.81 GNE
5 Decreased viability GR00221-A-1 9.81 GNE
6 Decreased viability GR00221-A-2 9.81 TTN
7 Decreased viability GR00221-A-3 9.81 GNE
8 Decreased viability GR00221-A-4 9.81 DYSF GNE TTN
9 Decreased viability GR00240-S-1 9.81 TCAP
10 Decreased viability GR00249-S 9.81 COL6A1 SGCA TCAP
11 Decreased viability GR00301-A 9.81 DYSF
12 Decreased viability GR00342-S-1 9.81 TTN
13 Decreased viability GR00342-S-3 9.81 TTN
14 Decreased viability GR00381-A-1 9.81 FKRP LAMA2 POGLUT1 SGCA TRIM32
15 Decreased viability GR00381-A-2 9.81 POGLUT1
16 Decreased viability GR00381-A-3 9.81 POGLUT1
17 Decreased viability GR00386-A-1 9.81 POGLUT1
18 Decreased viability GR00402-S-2 9.81 DMD POGLUT1 SGCA SGCB TCAP TRIM32

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.17 ANO5 COL6A1 DES DMD DYSF FKRP
2 cardiovascular system MP:0005385 10.1 CAPN3 CAV3 DES DMD FKRP GNE
3 homeostasis/metabolism MP:0005376 10.06 ANO5 CAPN3 CAV3 COL6A1 DES DMD
4 immune system MP:0005387 9.7 CAV3 DMD DYSF FKRP GNE LAMA2
5 muscle MP:0005369 9.58 ANO5 CAPN3 CAV3 COL6A1 DES DMD

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study of Cardiac Magnetic Resonance in Patients With Muscular Dystrophy Recruiting NCT02921321
2 A Pilot Study of Cardiac Magnetic Resonance in Patients With Muscular Dystrophy Terminated NCT01633242

Search NIH Clinical Center for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Genetic tests related to Autosomal Recessive Limb-Girdle Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Autosomal Recessive 29

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

40
Skeletal Muscle

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Articles related to Autosomal Recessive Limb-Girdle Muscular Dystrophy:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Recombinant adeno-associated virus type 8-mediated extensive therapeutic gene delivery into skeletal muscle of alpha-sarcoglycan-deficient mice. 61 54
18578595 2008
2
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay. 61 54
17979987 2007
3
Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance. 61 54
16786213 2006
4
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. 61 54
14647208 2003
5
The third human FER-1-like protein is highly similar to dysferlin. 54 61
10995573 2000
6
Recent advances in diagnosis of the childhood muscular dystrophies. 61 54
9259292 1997
7
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. 54 61
8968750 1996
8
Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region. 61 54
7665169 1995
9
Novel CAPN3 variant associated with an autosomal dominant calpainopathy. 61
32342993 2020
10
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy. 61
31610034 2019
11
Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10. 61
31830914 2019
12
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. 61
31268554 2019
13
Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10. 61
31664938 2019
14
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 61
30919934 2019
15
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. 61
30764848 2019
16
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. 61
29935994 2018
17
Calpain 3 and CaMKII╬▓ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy. 61
29528394 2018
18
[Coincidence of hereditary motor and sensory neuropathy type 1A and limb girdle muscular dystrophy type 2A]. 61
30585608 2018
19
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. 61
28104817 2017
20
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. 61
27807076 2016
21
TRIM32 ubiquitin E3 ligase, one enzyme for several pathologies: From muscular dystrophy to tumours. 61
27458054 2016
22
LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report. 61
27857043 2016
23
Limb-girdle muscular dystrophy type 2A in Brazilian children. 61
26677118 2015
24
Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan. 61
23597518 2015
25
Limb Girdle Muscular Dystrophy (LGMD): Case Report. 61
25738022 2015
26
Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy. 61
25560911 2015
27
Common recessive limb girdle muscular dystrophies differential diagnosis: why and how? 61
25252238 2014
28
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. 61
23687351 2013
29
Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue. 61
21623088 2011
30
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. 61
20961758 2011
31
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. 61
21109228 2010
32
[Autosomal recessive limb-girdle muscular dystrophy]. 61
20925031 2010
33
Normal vaginal delivery in a patient with autosomal recessive limb-girdle muscular dystrophy. 61
27582849 2010
34
Functional muscle analysis of the Tcap knockout mouse. 61
20233748 2010
35
Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle. 61
19483197 2009
36
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 61
18996010 2008
37
Phenotypic variability in siblings with calpainopathy (LGMD2A). 61
19364062 2008
38
Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies. 61
19019315 2008
39
Revised spectrum of mutations in sarcoglycanopathies. 61
18285821 2008
40
Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section. 61
17643284 2007
41
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients. 61
17702496 2007
42
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. 61
17008331 2007
43
Structural and functional analysis of the sarcoglycan-sarcospan subcomplex. 61
17223103 2007
44
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. 61
16730439 2006
45
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. 54
15726252 2005
46
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. 61
15792865 2005
47
Epsilon-sarcoglycan compensates for lack of alpha-sarcoglycan in a mouse model of limb-girdle muscular dystrophy. 61
15689353 2005
48
[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family]. 61
15884399 2005
49
Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B. 61
15201514 2004
50
Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles. 61
15003303 2004

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Copy number variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 92418 15 40427592 40491807 Genomic rearrangement CAPN3 Autosomal-recessive limb girdle muscular dystrophy
2 147894 2 71534267 71767401 Deletion DYSF Autosomal-recessive limb girdle muscular dystrophy

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 SGCD SGCB SGCA LAMA2 DMD
2
Show member pathways
12.46 TTN TCAP DYSF DMD DES CAV3
3
Show member pathways
12.37 PLEC LAMA2 DMD COL6A1 CAPN3
4
Show member pathways
11.62 SGCD SGCB SGCA LAMA2 DMD DES
5
Show member pathways
11.44 TTN SGCD SGCB SGCA LAMA2 DMD
6 11.31 TTN TCAP DMD DES
7 10.79 POMT1 FKRP
8 10.68 LAMA2 DMD

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.63 TTN TCAP DMD DES CAV3 CAPN3
2 neuromuscular junction GO:0031594 9.58 LAMA2 DES CAV3
3 T-tubule GO:0030315 9.54 DYSF CAV3 CAPN3
4 sarcoglycan complex GO:0016012 9.5 SGCD SGCB SGCA
5 costamere GO:0043034 9.46 PLEC DMD
6 contractile fiber GO:0043292 9.43 PLEC DES
7 dystroglycan complex GO:0016011 9.43 SGCD SGCB SGCA
8 sarcolemma GO:0042383 9.36 SGCD SGCB SGCA PLEC LAMA2 FKRP
9 dystrophin-associated glycoprotein complex GO:0016010 9.35 SGCD SGCB SGCA DMD CAV3

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 sarcomere organization GO:0045214 9.67 TTN TCAP CAPN3
2 cardiac muscle contraction GO:0060048 9.67 TTN TCAP SGCD DMD
3 muscle contraction GO:0006936 9.65 TTN SGCA DYSF DES CAV3
4 positive regulation of proteolysis GO:0045862 9.63 TRIM32 CAPN3
5 skeletal muscle tissue regeneration GO:0043403 9.63 SGCA DYSF DMD
6 protein O-linked mannosylation GO:0035269 9.62 POMT1 FKRP
7 response to muscle stretch GO:0035994 9.62 TCAP DMD
8 muscle filament sliding GO:0030049 9.62 TTN TCAP DMD DES
9 cardiac muscle tissue morphogenesis GO:0055008 9.61 TTN TCAP
10 cardiac myofibril assembly GO:0055003 9.61 TTN TCAP
11 muscle fiber development GO:0048747 9.61 SGCB DYSF DMD
12 plasma membrane repair GO:0001778 9.6 DYSF CAV3
13 response to denervation involved in regulation of muscle adaptation GO:0014894 9.59 SGCA DMD
14 cardiac muscle hypertrophy GO:0003300 9.58 TTN TCAP
15 regulation of calcium ion import GO:0090279 9.58 DYSF CAV3
16 cardiac muscle fiber development GO:0048739 9.58 TTN TCAP SGCD
17 cardiac muscle cell development GO:0055013 9.57 SGCB CAV3
18 nucleus localization GO:0051647 9.56 DMD CAV3
19 T-tubule organization GO:0033292 9.55 DYSF CAV3
20 skeletal muscle thin filament assembly GO:0030240 9.54 TTN TCAP
21 skeletal muscle myosin thick filament assembly GO:0030241 9.52 TTN TCAP
22 regulation of skeletal muscle contraction GO:0014819 9.51 DMD CAV3
23 sarcomerogenesis GO:0048769 9.48 TTN TCAP
24 detection of muscle stretch GO:0035995 9.33 TTN TCAP CAV3
25 muscle cell cellular homeostasis GO:0046716 9.26 TRIM32 DMD CAV3 CAPN3
26 muscle organ development GO:0007517 9.17 SGCD SGCB SGCA LAMA2 DMD CAV3

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.5 PLEC DMD DES
2 nitric-oxide synthase binding GO:0050998 9.26 DMD CAV3
3 titin binding GO:0031432 9.16 TCAP CAPN3
4 structural constituent of muscle GO:0008307 9.02 TTN TCAP PLEC DMD CAPN3
5 dystroglycan binding GO:0002162 8.96 FKRP DMD

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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