LGMDR2
MCID: MSC170
MIFTS: 53

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 (LGMDR2)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 58 76
Lgmd2b 58 54 60 76 56
Beta-Sarcoglycanopathy 12 54 30 6
Muscular Dystrophy, Limb-Girdle, Type 2b 58 76 13
Muscular Dystrophy, Limb-Girdle, Type 3 58 54 76
Limb-Girdle Muscular Dystrophy, Type 2b 39 30 6
Lgmd3 58 54 76
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 12 15
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 12 15
Limb-Girdle Muscular Dystrophy 2b 76 38
Lgmdr2 58 76
Autosomal Recessive Muscular Dystrophy Due to Torsin-1a-Interacting Protein 1 Deficiency 12
Muscular Dystrophy with Progressive Weakness, Distal Contractures and Rigid Spine 12
Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency 12
Autosomal Recessive Muscular Dystrophy Due to Lap1b Deficiency 12
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 41
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 60
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency 60
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y 12
Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2s 6
Muscular Dystrophy, Limb-Girdle, Type 2b; Lgmd2b 58
Muscular Dystrophy, Limb-Girdle, Type 3; Lgmd3 58
Dystrophy, Muscular, Limb-Girdle, Type 2b 41
Muscular Dystrophy, Limb-Girdle, Type 2e 12
Muscular Dystrophy, Limb-Girdle, Type 2s 12
Muscular Dystrophy, Limb-Girdle, Type 2y 12
Limb-Girdle Muscular Dystrophy Type 2b 54
Lgmd2e 12
Lgmd2s 12
Lgmd2y 12

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive limb-girdle muscular dystrophy type 2b
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United Kingdom); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
slow progression
age at onset 15 to 25 years
many patients lose independent mobility after 25 years
onset in infancy was reported in 1 family
heterozygous mutation carriers may have late-onset of mild symptoms
allelic disorder to miyoshi myopathy and distal myopathy with anterior tibial onset


HPO:

33
muscular dystrophy, limb-girdle, autosomal recessive 2:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

NIH Rare Diseases : 54 Limb-girdle muscular dystrophy type 2B (LGMD2B) is one type of limb-girdle muscular dystrophy. These diseases affect the voluntary muscles, which are the muscles that are moved on purpose, such as the arms, legs, fingers, toes, and facial muscles. Specifically, LGMD2B is a slowly progressive disease that causes muscle weakness and wasting (atrophy) of the pelvic muscles and muscles of the shoulder girdle. People who are Jewish, and specifically those of Libyan Jewish descent, are more likely to have LGMD2B. LGMD2B is caused by variations (also known mutations) in the DYSF gene. The disease is inherited in an autosomal recessive manner. Diagnosis of LGMD2B is suspected in people who have signs and symptoms of the disease, and the diagnosis can be confirmed by a muscle biopsy and genetic testing. While there are no treatments that can reverse the muscle weakness associated with the disease, supportive treatment can decrease complications. 

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2, also known as lgmd2b, is related to dysferlinopathy and autosomal recessive limb-girdle muscular dystrophy type 2b. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 is DYSF (Dysferlin), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Smooth Muscle Contraction. The drugs Deflazacort and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and eye, and related phenotypes are hyperlordosis and cataract

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.

UniProtKB/Swiss-Prot : 76 Muscular dystrophy, limb-girdle, autosomal recessive 2: An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs.

Description from OMIM: 253601

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

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
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

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 32.5 CAPN3 DYSF
2 autosomal recessive limb-girdle muscular dystrophy type 2b 31.5 CAPN3 CAV3 DYSF SGCA SGCB
3 miyoshi muscular dystrophy 29.7 CAPN3 CAV3 DYSF MYOT
4 myopathy 29.5 CAPN3 CAV3 DYSF MYOT
5 dilated cardiomyopathy 29.3 FKRP SGCA SGCB TCAP
6 muscular dystrophy, limb-girdle, autosomal recessive 6 28.4 CAPN3 DYSF FKRP SGCA SGCB TCAP
7 autosomal recessive limb-girdle muscular dystrophy 27.9 CAPN3 CAV3 DYSF FKRP SGCA TCAP
8 limb-girdle muscular dystrophy 27.8 CAPN3 CAV3 DYSF FKRP MYOT SGCA
9 muscular dystrophy 27.7 CAPN3 CAV3 DYSF FKRP MYOT SGCA
10 myopathy, autosomal recessive, with rigid spine and distal joint contractures 12.0
11 muscular dystrophy, limb-girdle, autosomal recessive 4 11.9
12 muscular dystrophy, limb-girdle, autosomal recessive 18 11.8
13 polymyositis 10.5
14 muscle disorders 10.3
15 dysphagia 10.3
16 miyoshi muscular dystrophy 1 10.2
17 bethlem myopathy 1 10.1 CAPN3 DYSF
18 paresthesia 10.1 CAPN3 FKRP
19 myoglobinuria 10.1
20 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 CAPN3 FKRP
21 muscular dystrophy, becker type 10.1 DYSF SGCA
22 muscular dystrophy-dystroglycanopathy , type c, 1 10.1
23 walker-warburg syndrome 10.1
24 muscular dystrophy, limb-girdle, autosomal recessive 1 10.0
25 muscular atrophy 10.0
26 myositis 10.0 CAPN3 DYSF
27 autosomal recessive limb-girdle muscular dystrophy type 2l 9.9 DYSF FKRP SGCB
28 autosomal dominant limb-girdle muscular dystrophy 9.9 CAV3 MYOT
29 muscle eye brain disease 9.9 FKRP SGCA
30 myofibrillar myopathy 9.8 MYOT TCAP
31 muscular dystrophy-dystroglycanopathy , type b, 5 9.8 CAV3 FKRP
32 creatine phosphokinase, elevated serum 9.8 CAV3 TCAP
33 autosomal recessive limb-girdle muscular dystrophy type 2f 9.7 CAPN3 DYSF SGCA SGCB
34 autosomal recessive limb-girdle muscular dystrophy type 2c 9.7 CAPN3 DYSF SGCA SGCB
35 atrial standstill 1 9.7 FKRP MYOT
36 muscular dystrophy, limb-girdle, autosomal dominant 1 9.7 CAV3 MYOT SGCB
37 autosomal recessive limb-girdle muscular dystrophy type 2j 9.7 CAPN3 FKRP MYOT SGCB
38 autosomal recessive limb-girdle muscular dystrophy type 2d 9.5 CAPN3 DYSF FKRP SGCA SGCB
39 autosomal recessive limb-girdle muscular dystrophy type 2h 9.4 CAPN3 FKRP MYOT SGCB TRIM32
40 autosomal recessive limb-girdle muscular dystrophy type 2g 9.4 CAPN3 DYSF MYOT SGCB TCAP
41 muscular dystrophy, limb-girdle, autosomal recessive 8 9.4 CAPN3 DYSF FKRP TCAP TRIM32
42 muscular dystrophy-dystroglycanopathy , type c, 5 9.4 CAPN3 DYSF FKRP TCAP TRIM32
43 isolated hyperckemia 9.3 CAPN3 CAV3 FKRP TCAP
44 autosomal recessive limb-girdle muscular dystrophy type 2a 9.2 CAPN3 DYSF FKRP MYOT SGCA SGCB
45 muscular dystrophy, limb-girdle, autosomal recessive 7 9.1 CAPN3 DYSF FKRP MYOT TCAP TRIM32
46 muscle tissue disease 8.9 CAPN3 CAV3 DYSF FKRP MYOT SGCA
47 muscular disease 8.5 CAPN3 CAV3 DYSF FKRP MYOT SGCA

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:

33 (show all 41)
# Description HPO Frequency HPO Source Accession
1 hyperlordosis 33 frequent (33%) HP:0003307
2 cataract 33 frequent (33%) HP:0000518
3 hepatomegaly 33 frequent (33%) HP:0002240
4 delayed speech and language development 33 frequent (33%) HP:0000750
5 myopathy 33 frequent (33%) HP:0003198
6 absent speech 33 frequent (33%) HP:0001344
7 elevated hepatic transaminase 33 frequent (33%) HP:0002910
8 limb-girdle muscular dystrophy 33 frequent (33%) HP:0006785
9 waddling gait 33 frequent (33%) HP:0002515
10 myalgia 33 frequent (33%) HP:0003326
11 pelvic girdle muscle weakness 33 frequent (33%) HP:0003749
12 difficulty walking 33 frequent (33%) HP:0002355
13 hyporeflexia 33 frequent (33%) HP:0001265
14 proximal muscle weakness 33 frequent (33%) HP:0003701
15 myopathic facies 33 frequent (33%) HP:0002058
16 increased variability in muscle fiber diameter 33 frequent (33%) HP:0003557
17 intellectual disability, borderline 33 frequent (33%) HP:0006889
18 gowers sign 33 frequent (33%) HP:0003391
19 calf muscle hypertrophy 33 frequent (33%) HP:0008981
20 broad-based gait 33 frequent (33%) HP:0002136
21 muscle fiber atrophy 33 frequent (33%) HP:0100295
22 cerebral white matter atrophy 33 frequent (33%) HP:0012762
23 elevated serum creatine kinase 33 frequent (33%) HP:0003236
24 muscle spasm 33 frequent (33%) HP:0003394
25 abnormal circulating creatine kinase concentration 33 frequent (33%) HP:0040081
26 chorea 33 occasional (7.5%) HP:0002072
27 microcephaly 33 occasional (7.5%) HP:0000252
28 hepatic steatosis 33 occasional (7.5%) HP:0001397
29 cardiomyopathy 33 occasional (7.5%) HP:0001638
30 generalized tonic-clonic seizures 33 occasional (7.5%) HP:0002069
31 truncal ataxia 33 occasional (7.5%) HP:0002078
32 myoglobinuria 33 occasional (7.5%) HP:0002913
33 infantile muscular hypotonia 33 occasional (7.5%) HP:0008947
34 exophoria 33 occasional (7.5%) HP:0025313
35 fatigue 33 HP:0012378
36 emg: myopathic abnormalities 33 HP:0003458
37 increased connective tissue 33 HP:0009025
38 muscular dystrophy 33 HP:0003560
39 difficulty climbing stairs 33 HP:0003551
40 difficulty running 33 HP:0009046
41 muscle fiber splitting 33 HP:0003555

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
proximal muscle weakness
difficulty climbing stairs
difficulty running
emg shows myopathic changes
fiber splitting
more
Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM:

253601

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 CAPN3 CAV3 FKRP SGCA SGCB TCAP
2 homeostasis/metabolism MP:0005376 9.5 CAPN3 CAV3 DYSF FKRP SGCA TCAP
3 muscle MP:0005369 9.23 CAPN3 CAV3 DYSF FKRP SGCA SGCB

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Drugs for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deflazacort Approved, Investigational Phase 2, Phase 3 14484-47-0
2 Immunologic Factors Phase 2, Phase 3
3 Anti-Inflammatory Agents Phase 2, Phase 3
4 Immunosuppressive Agents Phase 2, Phase 3
5 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
2 The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
3 rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies Active, not recruiting NCT02710500 Phase 1 rAAVrh74.MHCK7.DYSF.DV
4 Clinical Outcome Study for Dysferlinopathy Unknown status NCT01676077
5 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:

# Genetic test Affiliating Genes
1 Beta-Sarcoglycanopathy 30
2 Limb-Girdle Muscular Dystrophy, Type 2b 30 DYSF

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

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

42
Testes, Brain, Eye, Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

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

(show all 28)
# Title Authors Year
1
Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B. ( 30366248 )
2018
2
Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B. ( 29175948 )
2018
3
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). ( 20092694 )
2010
4
Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51. ( 20535123 )
2010
5
A new phenotype of dysferlinopathy with congenital onset. ( 19084402 )
2009
6
Dysferlin-deficient muscular dystrophy features amyloidosis. ( 18306167 )
2008
7
Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. ( 17129727 )
2007
8
Symptomatic dysferlin gene mutation carriers: characterization of two cases. ( 17287450 )
2007
9
Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy. ( 16606933 )
2006
10
Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions. ( 16996541 )
2006
11
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. ( 16010686 )
2005
12
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. ( 16087766 )
2005
13
Variable reduction of caveolin-3 in patients with LGMD2B/MM. ( 14673575 )
2003
14
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. ( 11166162 )
2001
15
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. ( 10766988 )
2000
16
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. ( 11134403 )
2000
17
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). ( 10196377 )
1999
18
Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. ( 9570945 )
1998
19
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. ( 9731526 )
1998
20
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. ( 9731527 )
1998
21
The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy (LGMD2B). ( 9805007 )
1998
22
Localization of the rhotekin gene RTKN on the physical maps of mouse chromosome 6 and human chromosome 2p13 and exclusion as a candidate for mnd2 and LGMD2B. ( 9073523 )
1997
23
Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. ( 8617508 )
1996
24
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. ( 8808603 )
1996
25
The molecular biology of LGMD2B--towards the identification of the LGMD gene on chromosome 2p13. ( 9027860 )
1996
26
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. ( 9009996 )
1996
27
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. ( 7665169 )
1995
28
A large inbred Palestinian family with two forms of muscular dystrophy. ( 1483054 )
1992

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:

76 (show all 26)
# Symbol AA change Variation ID SNP ID
1 DYSF p.Pro791Arg VAR_012308 rs121908956
2 DYSF p.Ile1298Val VAR_012309 rs121908954
3 DYSF p.Arg2042Cys VAR_012311 rs121908955
4 DYSF p.Ala170Glu VAR_024853 rs34999029
5 DYSF p.Arg555Trp VAR_024859 rs377735262
6 DYSF p.Arg959Trp VAR_024860 rs202218890
7 DYSF p.Arg1038Gln VAR_024862 rs150877497
8 DYSF p.Ile1208Met VAR_024865 rs148858485
9 DYSF p.Glu1335Lys VAR_024868 rs758993965
10 DYSF p.Trp52Arg VAR_057834
11 DYSF p.Val67Asp VAR_057835 rs121908957
12 DYSF p.Gly155Arg VAR_057837 rs200970855
13 DYSF p.Gly234Glu VAR_057838 rs141497053
14 DYSF p.Ile284Thr VAR_057839
15 DYSF p.Gly299Arg VAR_057840 rs121908963
16 DYSF p.Gly618Arg VAR_057851 rs201049092
17 DYSF p.Gly621Arg VAR_057852 rs886043900
18 DYSF p.Asp625Tyr VAR_057853 rs121908960
19 DYSF p.Pro731Arg VAR_057854
20 DYSF p.Leu1228Pro VAR_057860
21 DYSF p.Leu1341Pro VAR_057862 rs757917335
22 DYSF p.Tyr1505Cys VAR_057864 rs757820496
23 DYSF p.Lys1526Thr VAR_057865 rs76086153
24 DYSF p.Gly1543Asp VAR_057866
25 DYSF p.Glu1734Gly VAR_057872 rs121908961
26 DYSF p.Pro1970Ser VAR_057880 rs105752114

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:

6 (show top 50) (show all 592)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYSF NM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter) single nucleotide variant Pathogenic rs121908953 GRCh37 Chromosome 2, 71780201: 71780201
2 DYSF NM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter) single nucleotide variant Pathogenic rs121908953 GRCh38 Chromosome 2, 71553071: 71553071
3 DYSF NM_003494.3(DYSF): c.3892A> G (p.Ile1298Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121908954 GRCh37 Chromosome 2, 71829924: 71829924
4 DYSF NM_003494.3(DYSF): c.3892A> G (p.Ile1298Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121908954 GRCh38 Chromosome 2, 71602794: 71602794
5 DYSF NM_003494.3(DYSF): c.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908955 GRCh37 Chromosome 2, 71909727: 71909727
6 DYSF NM_003494.3(DYSF): c.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908955 GRCh38 Chromosome 2, 71682597: 71682597
7 DYSF NM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs) indel Pathogenic rs786200896 GRCh37 Chromosome 2, 71887767: 71887771
8 DYSF NM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs) indel Pathogenic rs786200896 GRCh38 Chromosome 2, 71660637: 71660641
9 DYSF NM_003494.3(DYSF): c.5039_5057+4dup duplication Pathogenic rs786205082 GRCh38 Chromosome 2, 71664420: 71664442
10 DYSF NM_003494.3(DYSF): c.5039_5057+4dup duplication Pathogenic rs786205082 GRCh37 Chromosome 2, 71891550: 71891572
11 DYSF NM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg) single nucleotide variant Pathogenic rs121908956 GRCh37 Chromosome 2, 71791204: 71791204
12 DYSF NM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg) single nucleotide variant Pathogenic rs121908956 GRCh38 Chromosome 2, 71564074: 71564074
13 DYSF NM_003494.3(DYSF): c.5057+5G> A single nucleotide variant Pathogenic rs745891180 GRCh38 Chromosome 2, 71664443: 71664443
14 DYSF NM_003494.3(DYSF): c.5057+5G> A single nucleotide variant Pathogenic rs745891180 GRCh37 Chromosome 2, 71891573: 71891573
15 DYSF NM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp) indel Pathogenic rs121908957 GRCh37 Chromosome 2, 71709064: 71709065
16 DYSF NM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp) indel Pathogenic rs121908957 GRCh38 Chromosome 2, 71481934: 71481935
17 DYSF NM_003494.3(DYSF): c.2997G> T (p.Trp999Cys) single nucleotide variant Pathogenic rs28937581 GRCh37 Chromosome 2, 71797430: 71797430
18 DYSF NM_003494.3(DYSF): c.2997G> T (p.Trp999Cys) single nucleotide variant Pathogenic rs28937581 GRCh38 Chromosome 2, 71570300: 71570300
19 DYSF NM_003494.3(DYSF): c.3137G> A (p.Arg1046His) single nucleotide variant Pathogenic/Likely pathogenic rs121908958 GRCh37 Chromosome 2, 71797834: 71797834
20 DYSF NM_003494.3(DYSF): c.3137G> A (p.Arg1046His) single nucleotide variant Pathogenic/Likely pathogenic rs121908958 GRCh38 Chromosome 2, 71570704: 71570704
21 DYSF NM_003494.3(DYSF): c.5713C> T (p.Arg1905Ter) single nucleotide variant Pathogenic rs121908959 GRCh37 Chromosome 2, 71901372: 71901372
22 DYSF NM_003494.3(DYSF): c.5713C> T (p.Arg1905Ter) single nucleotide variant Pathogenic rs121908959 GRCh38 Chromosome 2, 71674242: 71674242
23 DYSF NM_001130978.1(DYSF): c.1873G> T (p.Asp625Tyr) single nucleotide variant Pathogenic rs121908960 GRCh37 Chromosome 2, 71780261: 71780261
24 DYSF NM_001130978.1(DYSF): c.1873G> T (p.Asp625Tyr) single nucleotide variant Pathogenic rs121908960 GRCh38 Chromosome 2, 71553131: 71553131
25 DYSF NM_001130978.1(DYSF): c.5264A> G (p.Glu1755Gly) single nucleotide variant Pathogenic rs121908961 GRCh37 Chromosome 2, 71894506: 71894506
26 DYSF NM_001130978.1(DYSF): c.5264A> G (p.Glu1755Gly) single nucleotide variant Pathogenic rs121908961 GRCh38 Chromosome 2, 71667376: 71667376
27 DYSF NM_003494.3(DYSF): c.3443-33A> G single nucleotide variant Pathogenic rs786205083 GRCh38 Chromosome 2, 71590178: 71590178
28 DYSF NM_003494.3(DYSF): c.3443-33A> G single nucleotide variant Pathogenic rs786205083 GRCh37 Chromosome 2, 71817308: 71817308
29 DYSF NM_003494.3(DYSF): c.895G> A (p.Gly299Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908963 GRCh37 Chromosome 2, 71744158: 71744158
30 DYSF NM_003494.3(DYSF): c.895G> A (p.Gly299Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908963 GRCh38 Chromosome 2, 71517028: 71517028
31 DYSF NM_003494.3(DYSF): c.1285-2A> G single nucleotide variant Pathogenic rs786200897 GRCh37 Chromosome 2, 71762149: 71762149
32 DYSF NM_003494.3(DYSF): c.1285-2A> G single nucleotide variant Pathogenic rs786200897 GRCh38 Chromosome 2, 71535019: 71535019
33 DYSF NM_003494.3(DYSF): c.855+1delG deletion Pathogenic rs786200898 GRCh37 Chromosome 2, 71743373: 71743373
34 DYSF NM_003494.3(DYSF): c.855+1delG deletion Pathogenic rs786200898 GRCh38 Chromosome 2, 71516243: 71516243
35 DYSF NM_003494.3(DYSF): c.2779del (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh37 Chromosome 2, 71795437: 71795437
36 DYSF NM_003494.3(DYSF): c.2779del (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh38 Chromosome 2, 71568307: 71568307
37 DYSF NM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys) single nucleotide variant Pathogenic rs786205084 GRCh38 Chromosome 2, 71668842: 71668842
38 DYSF NM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys) single nucleotide variant Pathogenic rs786205084 GRCh37 Chromosome 2, 71895972: 71895972
39 SGCB NM_000232.4(SGCB): c.341C> T (p.Ser114Phe) single nucleotide variant Pathogenic/Likely pathogenic rs150518260 GRCh37 Chromosome 4, 52895932: 52895932
40 SGCB NM_000232.4(SGCB): c.341C> T (p.Ser114Phe) single nucleotide variant Pathogenic/Likely pathogenic rs150518260 GRCh38 Chromosome 4, 52029766: 52029766
41 DYSF NM_003494.3(DYSF): c.5371C> T (p.Pro1791Ser) single nucleotide variant Uncertain significance rs145832952 GRCh37 Chromosome 2, 71895914: 71895914
42 DYSF NM_003494.3(DYSF): c.5371C> T (p.Pro1791Ser) single nucleotide variant Uncertain significance rs145832952 GRCh38 Chromosome 2, 71668784: 71668784
43 DYSF NM_003494.3(DYSF): c.5371C> T (p.Pro1791Ser) single nucleotide variant Uncertain significance rs145832952 NCBI36 Chromosome 2, 71749422: 71749422
44 DYSF NM_003494.3(DYSF): c.3618C> T (p.Tyr1206=) single nucleotide variant Uncertain significance rs143393575 GRCh37 Chromosome 2, 71825791: 71825791
45 DYSF NM_003494.3(DYSF): c.3618C> T (p.Tyr1206=) single nucleotide variant Uncertain significance rs143393575 GRCh38 Chromosome 2, 71598661: 71598661
46 DYSF NM_003494.3(DYSF): c.3618C> T (p.Tyr1206=) single nucleotide variant Uncertain significance rs143393575 NCBI36 Chromosome 2, 71679299: 71679299
47 SGCB NM_000232.4(SGCB): c.368A> C (p.Tyr123Ser) single nucleotide variant Uncertain significance rs398123263 GRCh37 Chromosome 4, 52895905: 52895905
48 SGCB NM_000232.4(SGCB): c.368A> C (p.Tyr123Ser) single nucleotide variant Uncertain significance rs398123263 GRCh38 Chromosome 4, 52029739: 52029739
49 DYSF NM_003494.3(DYSF): c.1053+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123763 GRCh37 Chromosome 2, 71748035: 71748035
50 DYSF NM_003494.3(DYSF): c.1053+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123763 GRCh38 Chromosome 2, 71520905: 71520905

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Pathways related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.54 CAPN3 SGCA SGCB
2 10.18 CAV3 DYSF

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.95 CAPN3 CAV3 DYSF FKRP MYOT SGCA
2 Z disc GO:0030018 9.46 CAPN3 CAV3 MYOT TCAP
3 T-tubule GO:0030315 9.43 CAPN3 CAV3 DYSF
4 sarcoglycan complex GO:0016012 9.37 SGCA SGCB
5 dystroglycan complex GO:0016011 9.32 SGCA SGCB
6 dystrophin-associated glycoprotein complex GO:0016010 9.13 CAV3 SGCA SGCB
7 sarcolemma GO:0042383 9.1 CAV3 DYSF FKRP MYOT SGCA SGCB

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 fat cell differentiation GO:0045444 9.52 DYSF TRIM32
2 sarcomere organization GO:0045214 9.51 CAPN3 TCAP
3 skeletal muscle tissue regeneration GO:0043403 9.49 DYSF SGCA
4 positive regulation of proteolysis GO:0045862 9.48 CAPN3 TRIM32
5 muscle fiber development GO:0048747 9.46 DYSF SGCB
6 muscle contraction GO:0006936 9.46 CAV3 DYSF MYOT SGCA
7 regulation of calcium ion import GO:0090279 9.43 CAV3 DYSF
8 cardiac muscle cell development GO:0055013 9.4 CAV3 SGCB
9 plasma membrane repair GO:0001778 9.37 CAV3 DYSF
10 T-tubule organization GO:0033292 9.32 CAV3 DYSF
11 detection of muscle stretch GO:0035995 9.26 CAV3 TCAP
12 muscle cell cellular homeostasis GO:0046716 9.13 CAPN3 CAV3 TRIM32
13 muscle organ development GO:0007517 8.92 CAPN3 CAV3 SGCA SGCB

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex scaffold activity GO:0032947 9.26 CAPN3 CAV3
2 alpha-tubulin binding GO:0043014 9.16 CAV3 DYSF
3 titin binding GO:0031432 8.96 CAPN3 TCAP
4 structural constituent of muscle GO:0008307 8.8 CAPN3 MYOT TCAP

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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52 NDF-RT
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56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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