MCID: ATS331
MIFTS: 40

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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
Limb-Girdle Muscular Dystrophy, Autosomal Recessive 29 6
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 54
Limb-Girdle Muscular Dystrophy Autosomal Recessive 6

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 limb-girdle muscular dystrophy, autosomal recessive, is related to muscular dystrophy-dystroglycanopathy , type c, 9 and muscular dystrophy-dystroglycanopathy , type c, 3. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy is SGCA (Sarcoglycan Alpha), and among its related pathways/superpathways are Cardiac conduction and Allograft rejection. Affiliated tissues include skeletal muscle, and related phenotypes are behavior/neurological and cardiovascular system

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 Recessive Limb-Girdle Muscular Dystrophy Type 2z
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 150)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 9 33.5 TRAPPC11 SGCB DYSF
2 muscular dystrophy-dystroglycanopathy , type c, 3 33.4 POMT1 POMGNT1 FKRP ANO5
3 muscular dystrophy-dystroglycanopathy , type c, 14 33.3 TRAPPC11 ANO5
4 muscular dystrophy, limb-girdle, autosomal recessive 1 33.3 TRAPPC11 SGCB CAPN3
5 autosomal recessive limb-girdle muscular dystrophy type 2q 33.3 TRAPPC11 TCAP SGCA ANO5
6 muscular dystrophy-dystroglycanopathy , type c, 1 33.2 SGCD SGCB POMT1 POMGNT1 FKRP ANO5
7 muscular dystrophy-dystroglycanopathy , type c, 2 33.2 POMT1 POMGNT1 FKRP CAPN3 ANO5
8 muscular dystrophy-dystroglycanopathy , type c, 7 33.2 TRAPPC11 FKRP
9 autosomal recessive limb-girdle muscular dystrophy type 2x 33.2 DYSF CAV3 BVES ANO5
10 autosomal recessive limb-girdle muscular dystrophy type 2w 33.1 TRAPPC11 SGCB BVES ANO5
11 muscular dystrophy-dystroglycanopathy , type c, 4 33.1 TRAPPC11 POMT1 POMGNT1 FKRP DYSF CAPN3
12 autosomal recessive limb-girdle muscular dystrophy type 2f 33.0 TCAP SGCD SGCB SGCA FKRP DYSF
13 muscular dystrophy, limb-girdle, autosomal recessive 23 32.9 TRAPPC11 LAMA2
14 autosomal recessive limb-girdle muscular dystrophy type 2h 32.9 TRIM32 TCAP SGCD SGCA FKRP DYSF
15 autosomal recessive limb-girdle muscular dystrophy type 2g 32.9 TTN TCAP SGCD SGCB SGCA FKRP
16 muscular dystrophy, limb-girdle, autosomal recessive 7 32.9 TTN TRIM32 TCAP FKRP DYSF DMD
17 autosomal recessive limb-girdle muscular dystrophy type 2l 32.8 SGCD SGCB SGCA POMT1 POMGNT1 FKRP
18 autosomal recessive limb-girdle muscular dystrophy type 2c 32.8 TCAP SGCD SGCB SGCA LAMA2 FKRP
19 muscular dystrophy-dystroglycanopathy , type c, 5 32.8 TTN TRIM32 TCAP POMT1 POMGNT1 LAMA2
20 muscular dystrophy, limb-girdle, autosomal recessive 8 32.8 TTN TRIM32 TCAP FKRP DYSF CAPN3
21 ullrich congenital muscular dystrophy 1 32.8 SGCD SGCA LMNA LAMA2 FKRP DYSF
22 autosomal recessive limb-girdle muscular dystrophy type 2j 32.7 TTN TCAP SGCD SGCB SGCA POMT1
23 myopathy, myofibrillar, 1 32.7 TTN LMNA DYSF DMD CAPN3
24 autosomal recessive limb-girdle muscular dystrophy type 2b 32.7 TCAP SGCD SGCB SGCA LMNA LAMA2
25 muscular dystrophy, limb-girdle, autosomal recessive 6 32.6 TTN TRIM32 TCAP SGCD SGCB SGCA
26 autosomal recessive limb-girdle muscular dystrophy type 2d 32.6 TCAP SGCD SGCB SGCA POMT1 LMNA
27 muscular dystrophy, limb-girdle, autosomal recessive 4 32.5 TTN TRIM32 TCAP SGCB SGCA FKRP
28 autosomal recessive limb-girdle muscular dystrophy type 2a 32.4 TTN TCAP SGCD SGCB SGCA LMNA
29 muscular dystrophy, limb-girdle, autosomal recessive 2 32.3 TTN TRIM32 TRAPPC11 TCAP SGCD SGCB
30 ablepharon-macrostomia syndrome 30.9 POMT1 POMGNT1 FKRP
31 muscular dystrophy, duchenne type 30.9 TTN TCAP SGCD SGCB SGCA LAMA2
32 autosomal dominant limb-girdle muscular dystrophy 30.9 TCAP LMNA DYSF CAV3 CAPN3
33 limb-girdle muscular dystrophy type 1a 30.9 TTN TRIM32 TCAP FKRP DYSF CAV3
34 nonaka myopathy 30.8 TTN FKRP DYSF DMD CAPN3
35 muscular atrophy 30.8 TTN LMNA CAV3 CAPN3
36 myofibrillar myopathy 30.8 TTN TCAP LMNA DYSF DMD CAPN3
37 rippling muscle disease 2 30.7 DYSF CAV3
38 muscular dystrophy-dystroglycanopathy , type a, 4 30.7 SGCA POMT1 POMGNT1 LAMA2 FKRP DMD
39 muscular dystrophy, becker type 30.7 SGCD SGCB SGCA LAMA2 FKRP DYSF
40 limb-girdle muscular dystrophy 30.6 TTN-AS1 TTN TRIM32 TRAPPC11 TCAP SGCD
41 hypertrophic cardiomyopathy 30.6 TTN TCAP SGCD SGCB SGCA LMNA
42 miyoshi muscular dystrophy 30.5 TTN TCAP SGCD SGCB SGCA FKRP
43 muscular dystrophy 30.4 TTN-AS1 TTN TRIM32 TRAPPC11 TCAP SGCD
44 myopathy 30.1 TTN-AS1 TTN TRIM32 TRAPPC11 TCAP SGCD
45 walker-warburg syndrome 30.0 TRAPPC11 SGCD SGCB SGCA POMT1 POMGNT1
46 muscular dystrophy, congenital, lmna-related 29.9 TTN-AS1 TTN TRAPPC11 TCAP SGCB POMT1
47 muscular dystrophy, limb-girdle, autosomal recessive 17 11.9
48 muscular dystrophy, limb-girdle, autosomal recessive 3 11.8
49 autosomal recessive limb-girdle muscular dystrophy type 2z 11.8
50 muscular dystrophy, limb-girdle, autosomal recessive 18 11.8

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ANO5 BVES DMD DYSF FKRP LAMA2
2 cardiovascular system MP:0005385 10.1 ANO5 BVES CAPN3 CAV3 DMD FKRP
3 homeostasis/metabolism MP:0005376 10.03 ANO5 BVES CAPN3 CAV3 DMD DYSF
4 immune system MP:0005387 9.7 ANO5 CAV3 DMD DYSF FKRP LAMA2
5 muscle MP:0005369 9.55 ANO5 BVES CAPN3 CAV3 DMD DYSF

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Search Clinical Trials , 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 95)
# 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. 54 61
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. 54 61
14647208 2003
5
The third human FER-1-like protein is highly similar to dysferlin. 61 54
10995573 2000
6
Recent advances in diagnosis of the childhood muscular dystrophies. 54 61
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. 54 61
7665169 1995
9
Diseases related to Notch glycosylation. 61
33341260 2020
10
Novel CAPN3 variant associated with an autosomal dominant calpainopathy. 61
32342993 2020
11
Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES. 61
32684383 2020
12
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy. 61
31610034 2019
13
Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10. 61
31830914 2019
14
Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10. 61
31664938 2019
15
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. 61
31268554 2019
16
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 61
30919934 2019
17
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. 61
30764848 2019
18
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. 61
29935994 2018
19
Calpain 3 and CaMKII╬▓ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy. 61
29528394 2018
20
[Coincidence of hereditary motor and sensory neuropathy type 1A and limb girdle muscular dystrophy type 2A]. 61
30585608 2018
21
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. 61
28104817 2017
22
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. 61
27807076 2016
23
TRIM32 ubiquitin E3 ligase, one enzyme for several pathologies: From muscular dystrophy to tumours. 61
27458054 2016
24
LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report. 61
27857043 2016
25
Limb-girdle muscular dystrophy type 2A in Brazilian children. 61
26677118 2015
26
Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan. 61
23597518 2015
27
Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy. 61
25560911 2015
28
Limb Girdle Muscular Dystrophy (LGMD): Case Report. 61
25738022 2015
29
Common recessive limb girdle muscular dystrophies differential diagnosis: why and how? 61
25252238 2014
30
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. 61
23687351 2013
31
Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue. 61
21623088 2011
32
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
33
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. 61
21109228 2010
34
[Autosomal recessive limb-girdle muscular dystrophy]. 61
20925031 2010
35
Functional muscle analysis of the Tcap knockout mouse. 61
20233748 2010
36
Normal vaginal delivery in a patient with autosomal recessive limb-girdle muscular dystrophy. 61
27582849 2010
37
Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle. 61
19483197 2009
38
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 61
18996010 2008
39
Phenotypic variability in siblings with calpainopathy (LGMD2A). 61
19364062 2008
40
Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies. 61
19019315 2008
41
Revised spectrum of mutations in sarcoglycanopathies. 61
18285821 2008
42
Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section. 61
17643284 2007
43
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients. 61
17702496 2007
44
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. 61
17008331 2007
45
Structural and functional analysis of the sarcoglycan-sarcospan subcomplex. 61
17223103 2007
46
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. 61
16730439 2006
47
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. 54
15726252 2005
48
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
49
Epsilon-sarcoglycan compensates for lack of alpha-sarcoglycan in a mouse model of limb-girdle muscular dystrophy. 61
15689353 2005
50
[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family]. 61
15884399 2005

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy

ClinVar genetic disease variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POMGNT1 NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) SNV Pathogenic 872288 1:46658068-46658068 1:46192396-46192396
2 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) SNV Pathogenic 4221 rs28937900 19:47259533-47259533 19:46756276-46756276
3 SGCA NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) SNV Pathogenic 9439 rs137852623 17:48247606-48247606 17:50170245-50170245
4 POMGNT1 NM_017739.3(POMGNT1):c.1539+1G>A SNV Pathogenic 56582 rs138642840 1:46657769-46657769 1:46192097-46192097
5 TTN-AS1 NM_001267550.2(TTN):c.103360del (p.Glu34454fs) Deletion Likely pathogenic 374145 rs760768093 2:179397982-179397982 2:178533255-178533255
6 SGCA NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) SNV Likely pathogenic 281027 rs143962150 17:48245867-48245867 17:50168506-50168506
7 TTN-AS1 NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) SNV Likely pathogenic 202529 rs757082154 2:179392218-179392218 2:178527491-178527491
8 ASTN2 NM_001365068.1(ASTN2):c.2806+27338del Deletion Likely pathogenic 498076 rs747685252 9:119460712-119460712 9:116698433-116698433
9 TTN-AS1 NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) SNV Likely pathogenic 47008 rs72677232 2:179482937-179482937 2:178618210-178618210
10 TRAPPC11 NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter) SNV Likely pathogenic 474342 rs140403642 4:184603963-184603963 4:183682810-183682810
11 BVES NM_001199563.2(BVES):c.262C>T (p.Arg88Ter) SNV Likely pathogenic 626314 rs796206315 6:105577343-105577343 6:105129468-105129468
12 ANO5 NM_213599.2(ANO5):c.2521C>G (p.His841Asp) SNV Uncertain significance 195705 rs781027702 11:22301090-22301090 11:22279544-22279544
13 ANO5 NM_213599.3(ANO5):c.395A>T (p.Lys132Met) SNV Uncertain significance 977163 11:22248879-22248879 11:22227333-22227333
14 TTN-AS1 NM_001267550.2(TTN):c.71731A>G (p.Lys23911Glu) SNV Uncertain significance 561990 rs763131148 2:179439128-179439128 2:178574401-178574401
15 CAV3 NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) SNV Likely benign 8279 rs116840776 3:8787313-8787313 3:8745627-8745627
16 CAV3 NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) SNV Benign 8278 rs72546667 3:8787263-8787263 3:8745577-8745577

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
12.49 TTN TCAP DYSF DMD CAV3
2
Show member pathways
12.46 SGCD SGCB SGCA LAMA2 DMD
3 11.62 SGCD SGCB SGCA LMNA LAMA2 DMD
4
Show member pathways
11.44 TTN SGCD SGCB SGCA LMNA LAMA2
5 11.29 TTN TCAP DMD
6 10.69 POMT1 POMGNT1 FKRP
7 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 9.65 TTN TCAP DMD CAV3 CAPN3
2 T-tubule GO:0030315 9.54 DYSF CAV3 CAPN3
3 I band GO:0031674 9.4 TTN TCAP
4 dystrophin-associated glycoprotein complex GO:0016010 9.35 SGCD SGCB SGCA DMD CAV3
5 sarcoglycan complex GO:0016012 9.33 SGCD SGCB SGCA
6 dystroglycan complex GO:0016011 9.32 SGCB SGCA
7 sarcolemma GO:0042383 9.28 SGCD SGCB SGCA LAMA2 FKRP DYSF

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 regulation of membrane potential GO:0042391 9.79 DMD CAV3 BVES
2 cardiac muscle contraction GO:0060048 9.67 TTN TCAP DMD
3 positive regulation of proteolysis GO:0045862 9.63 TRIM32 CAPN3
4 protein O-linked mannosylation GO:0035269 9.63 POMT1 FKRP
5 muscle filament sliding GO:0030049 9.63 TTN TCAP DMD
6 response to muscle stretch GO:0035994 9.62 TCAP DMD
7 negative regulation of protein localization to cell surface GO:2000009 9.61 CAV3 ASTN2
8 muscle fiber development GO:0048747 9.61 SGCB DMD
9 sarcomere organization GO:0045214 9.61 TTN TCAP CAPN3
10 plasma membrane repair GO:0001778 9.6 DYSF CAV3
11 cardiac muscle tissue morphogenesis GO:0055008 9.59 TTN TCAP
12 cardiac myofibril assembly GO:0055003 9.58 TTN TCAP
13 response to denervation involved in regulation of muscle adaptation GO:0014894 9.58 SGCA DMD
14 cardiac muscle hypertrophy GO:0003300 9.57 TTN TCAP
15 cardiac muscle cell development GO:0055013 9.56 SGCB CAV3
16 muscle contraction GO:0006936 9.56 TTN SGCA DYSF CAV3
17 T-tubule organization GO:0033292 9.55 DYSF CAV3
18 cardiac muscle fiber development GO:0048739 9.54 TTN TCAP
19 nucleus localization GO:0051647 9.52 DMD CAV3
20 skeletal muscle thin filament assembly GO:0030240 9.51 TTN TCAP
21 regulation of heart rate GO:0002027 9.5 DMD CAV3 BVES
22 regulation of skeletal muscle contraction GO:0014819 9.48 DMD CAV3
23 sarcomerogenesis GO:0048769 9.4 TTN TCAP
24 skeletal muscle myosin thick filament assembly GO:0030241 9.37 TTN TCAP
25 detection of muscle stretch GO:0035995 9.33 TTN TCAP CAV3
26 muscle organ development GO:0007517 9.28 SGCD SGCB SGCA LMNA LAMA2 DMD
27 muscle cell cellular homeostasis GO:0046716 9.26 TRIM32 DMD CAV3 CAPN3

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

# Name GO ID Score Top Affiliating Genes
1 nitric-oxide synthase binding GO:0050998 9.26 DMD CAV3
2 titin binding GO:0031432 9.16 TCAP CAPN3
3 dystroglycan binding GO:0002162 8.96 FKRP DMD
4 structural constituent of muscle GO:0008307 8.92 TTN TCAP DMD CAPN3

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....