LGMDR2
MCID: MSC170
MIFTS: 51

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 Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include testes, 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 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 45)
# 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 autosomal recessive limb-girdle muscular dystrophy 27.9 CAPN3 CAV3 DYSF FKRP SGCA TCAP
7 limb-girdle muscular dystrophy 27.8 CAPN3 CAV3 DYSF FKRP MYOT SGCA
8 muscular dystrophy 27.7 CAPN3 CAV3 DYSF FKRP MYOT SGCA
9 myopathy, autosomal recessive, with rigid spine and distal joint contractures 12.0
10 muscular dystrophy, limb-girdle, autosomal recessive 4 11.9
11 muscular dystrophy, limb-girdle, autosomal recessive 18 11.8
12 muscular dystrophy, limb-girdle, autosomal recessive 1 11.1
13 polymyositis 10.5
14 dysphagia 10.3
15 miyoshi muscular dystrophy 1 10.2
16 bethlem myopathy 1 10.1 CAPN3 DYSF
17 myoglobinuria 10.1
18 paresthesia 10.1 CAPN3 FKRP
19 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 CAPN3 FKRP
20 walker-warburg syndrome 10.1
21 muscular dystrophy, becker type 10.1 DYSF SGCA
22 muscular atrophy 10.0
23 myositis 10.0 CAPN3 DYSF
24 autosomal recessive limb-girdle muscular dystrophy type 2l 9.9 DYSF FKRP SGCB
25 autosomal dominant limb-girdle muscular dystrophy 9.9 CAV3 MYOT
26 muscle eye brain disease 9.9 FKRP SGCA
27 myofibrillar myopathy 9.8 MYOT TCAP
28 muscular dystrophy-dystroglycanopathy , type b, 5 9.8 CAV3 FKRP
29 creatine phosphokinase, elevated serum 9.8 CAV3 TCAP
30 autosomal recessive limb-girdle muscular dystrophy type 2f 9.7 CAPN3 DYSF SGCA SGCB
31 autosomal recessive limb-girdle muscular dystrophy type 2c 9.7 CAPN3 DYSF SGCA SGCB
32 atrial standstill 1 9.7 FKRP MYOT
33 muscular dystrophy, limb-girdle, autosomal dominant 1 9.7 CAV3 MYOT SGCB
34 autosomal recessive limb-girdle muscular dystrophy type 2j 9.7 CAPN3 FKRP MYOT SGCB
35 autosomal recessive limb-girdle muscular dystrophy type 2d 9.5 CAPN3 DYSF FKRP SGCA SGCB
36 autosomal recessive limb-girdle muscular dystrophy type 2h 9.4 CAPN3 FKRP MYOT SGCB TRIM32
37 autosomal recessive limb-girdle muscular dystrophy type 2g 9.4 CAPN3 DYSF MYOT SGCB TCAP
38 muscular dystrophy, limb-girdle, autosomal recessive 8 9.4 CAPN3 DYSF FKRP TCAP TRIM32
39 muscular dystrophy-dystroglycanopathy , type c, 5 9.3 CAPN3 DYSF FKRP TCAP TRIM32
40 isolated hyperckemia 9.3 CAPN3 CAV3 FKRP TCAP
41 autosomal recessive limb-girdle muscular dystrophy type 2a 9.2 CAPN3 DYSF FKRP MYOT SGCA SGCB
42 muscular dystrophy, limb-girdle, autosomal recessive 7 9.1 CAPN3 DYSF FKRP MYOT TCAP TRIM32
43 muscle tissue disease 8.9 CAPN3 CAV3 DYSF FKRP MYOT SGCA
44 muscular dystrophy, limb-girdle, autosomal recessive 6 8.9 CAPN3 DYSF FKRP SGCA SGCB TCAP
45 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 limb-girdle muscular dystrophy 33 frequent (33%) HP:0006785
8 waddling gait 33 frequent (33%) HP:0002515
9 myalgia 33 frequent (33%) HP:0003326
10 pelvic girdle muscle weakness 33 frequent (33%) HP:0003749
11 difficulty walking 33 frequent (33%) HP:0002355
12 hyporeflexia 33 frequent (33%) HP:0001265
13 proximal muscle weakness 33 frequent (33%) HP:0003701
14 muscle fiber atrophy 33 frequent (33%) HP:0100295
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 cerebral white matter atrophy 33 frequent (33%) HP:0012762
22 elevated serum creatine kinase 33 frequent (33%) HP:0003236
23 muscle spasm 33 frequent (33%) HP:0003394
24 elevated hepatic transaminase 33 frequent (33%) HP:0002910
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 muscular dystrophy 33 HP:0003560
38 increased connective tissue 33 HP:0009025
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 Anti-Inflammatory Agents Phase 2, Phase 3
3 Immunosuppressive Agents Phase 2, Phase 3
4 Immunologic Factors 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

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

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

# 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
Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. ( 8617508 )
1996
4
The molecular biology of LGMD2B--towards the identification of the LGMD gene on chromosome 2p13. ( 9027860 )
1996

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 584)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYSF NM_003494.3(DYSF): c.5266C> T (p.Gln1756Ter) single nucleotide variant Pathogenic rs727503912 GRCh37 Chromosome 2, 71894571: 71894571
2 DYSF NM_003494.3(DYSF): c.5266C> T (p.Gln1756Ter) single nucleotide variant Pathogenic rs727503912 GRCh38 Chromosome 2, 71667441: 71667441
3 DYSF NM_003494.3(DYSF): c.3832C> T (p.Gln1278Ter) single nucleotide variant Pathogenic rs727503911 GRCh37 Chromosome 2, 71827961: 71827961
4 DYSF NM_003494.3(DYSF): c.3832C> T (p.Gln1278Ter) single nucleotide variant Pathogenic rs727503911 GRCh38 Chromosome 2, 71600831: 71600831
5 DYSF NM_003494.3(DYSF): c.2790G> C (p.Trp930Cys) single nucleotide variant Uncertain significance rs727503910 GRCh37 Chromosome 2, 71795448: 71795448
6 DYSF NM_003494.3(DYSF): c.2790G> C (p.Trp930Cys) single nucleotide variant Uncertain significance rs727503910 GRCh38 Chromosome 2, 71568318: 71568318
7 DYSF NM_003494.3(DYSF): c.5525+1G> A single nucleotide variant Pathogenic rs727503915 GRCh37 Chromosome 2, 71896338: 71896338
8 DYSF NM_003494.3(DYSF): c.5525+1G> A single nucleotide variant Pathogenic rs727503915 GRCh38 Chromosome 2, 71669208: 71669208
9 DYSF NM_003494.3(DYSF): c.1343T> C (p.Leu448Pro) single nucleotide variant Uncertain significance rs794727119 GRCh37 Chromosome 2, 71762209: 71762209
10 DYSF NM_003494.3(DYSF): c.1343T> C (p.Leu448Pro) single nucleotide variant Uncertain significance rs794727119 GRCh38 Chromosome 2, 71535079: 71535079
11 DYSF NM_003494.3(DYSF): c.1852G> A (p.Gly618Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201049092 GRCh37 Chromosome 2, 71780240: 71780240
12 DYSF NM_003494.3(DYSF): c.1852G> A (p.Gly618Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201049092 GRCh38 Chromosome 2, 71553110: 71553110
13 DYSF NM_003494.3(DYSF): c.3041A> G (p.Tyr1014Cys) single nucleotide variant Pathogenic/Likely pathogenic rs756328339 GRCh37 Chromosome 2, 71797738: 71797738
14 DYSF NM_003494.3(DYSF): c.3041A> G (p.Tyr1014Cys) single nucleotide variant Pathogenic/Likely pathogenic rs756328339 GRCh38 Chromosome 2, 71570608: 71570608
15 DYSF NM_003494.3(DYSF): c.3349-2A> G single nucleotide variant Pathogenic rs370874727 GRCh37 Chromosome 2, 71816721: 71816721
16 DYSF NM_003494.3(DYSF): c.3349-2A> G single nucleotide variant Pathogenic rs370874727 GRCh38 Chromosome 2, 71589591: 71589591
17 DYSF NM_003494.3(DYSF): c.265C> T (p.Arg89Ter) single nucleotide variant Pathogenic rs794727636 GRCh37 Chromosome 2, 71730372: 71730372
18 DYSF NM_003494.3(DYSF): c.265C> T (p.Arg89Ter) single nucleotide variant Pathogenic rs794727636 GRCh38 Chromosome 2, 71503242: 71503242
19 DYSF NM_003494.3(DYSF): c.4434G> A (p.Trp1478Ter) single nucleotide variant Pathogenic/Likely pathogenic rs766016391 GRCh37 Chromosome 2, 71871118: 71871118
20 DYSF NM_003494.3(DYSF): c.4434G> A (p.Trp1478Ter) single nucleotide variant Pathogenic/Likely pathogenic rs766016391 GRCh38 Chromosome 2, 71643988: 71643988
21 DYSF NM_003494.3(DYSF): c.790G> T (p.Glu264Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794727851 GRCh37 Chromosome 2, 71742879: 71742879
22 DYSF NM_003494.3(DYSF): c.790G> T (p.Glu264Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794727851 GRCh38 Chromosome 2, 71515749: 71515749
23 DYSF NM_003494.3(DYSF): c.3423G> A (p.Thr1141=) single nucleotide variant Conflicting interpretations of pathogenicity rs576460368 GRCh38 Chromosome 2, 71589667: 71589667
24 DYSF NM_003494.3(DYSF): c.3423G> A (p.Thr1141=) single nucleotide variant Conflicting interpretations of pathogenicity rs576460368 GRCh37 Chromosome 2, 71816797: 71816797
25 DYSF NM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs) deletion Pathogenic rs766341386 GRCh37 Chromosome 2, 71817414: 71817415
26 DYSF NM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs) deletion Pathogenic rs766341386 GRCh38 Chromosome 2, 71590284: 71590285
27 DYSF NM_003494.3(DYSF): c.5078G> A (p.Arg1693Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs779987458 GRCh37 Chromosome 2, 71892312: 71892312
28 DYSF NM_003494.3(DYSF): c.5078G> A (p.Arg1693Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs779987458 GRCh38 Chromosome 2, 71665182: 71665182
29 DYSF NM_003494.3(DYSF): c.164dupA (p.Ile57Hisfs) duplication Pathogenic rs863225020 GRCh37 Chromosome 2, 71709028: 71709028
30 DYSF NM_003494.3(DYSF): c.164dupA (p.Ile57Hisfs) duplication Pathogenic rs863225020 GRCh38 Chromosome 2, 71481898: 71481898
31 DYSF NM_003494.3(DYSF): c.1167_1180+1dup duplication Pathogenic rs863225019 GRCh37 Chromosome 2, 71753463: 71753477
32 DYSF NM_003494.3(DYSF): c.1167_1180+1dup duplication Pathogenic rs863225019 GRCh38 Chromosome 2, 71526333: 71526347
33 DYSF NM_003494.3(DYSF): c.1834C> T (p.Gln612Ter) single nucleotide variant Pathogenic rs746873768 GRCh37 Chromosome 2, 71780222: 71780222
34 DYSF NM_003494.3(DYSF): c.1834C> T (p.Gln612Ter) single nucleotide variant Pathogenic rs746873768 GRCh38 Chromosome 2, 71553092: 71553092
35 DYSF NM_003494.3(DYSF): c.1852G> C (p.Gly618Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201049092 GRCh37 Chromosome 2, 71780240: 71780240
36 DYSF NM_003494.3(DYSF): c.1852G> C (p.Gly618Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201049092 GRCh38 Chromosome 2, 71553110: 71553110
37 DYSF NM_003494.3(DYSF): c.3112C> T (p.Arg1038Ter) single nucleotide variant Pathogenic rs369607332 GRCh37 Chromosome 2, 71797809: 71797809
38 DYSF NM_003494.3(DYSF): c.3112C> T (p.Arg1038Ter) single nucleotide variant Pathogenic rs369607332 GRCh38 Chromosome 2, 71570679: 71570679
39 DYSF NM_003494.3(DYSF): c.5077C> T (p.Arg1693Trp) single nucleotide variant Pathogenic/Likely pathogenic rs863225021 GRCh37 Chromosome 2, 71892311: 71892311
40 DYSF NM_003494.3(DYSF): c.5077C> T (p.Arg1693Trp) single nucleotide variant Pathogenic/Likely pathogenic rs863225021 GRCh38 Chromosome 2, 71665181: 71665181
41 DYSF NM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter) single nucleotide variant Pathogenic rs121908953 GRCh37 Chromosome 2, 71780201: 71780201
42 DYSF NM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter) single nucleotide variant Pathogenic rs121908953 GRCh38 Chromosome 2, 71553071: 71553071
43 DYSF NM_003494.3(DYSF): c.3892A> G (p.Ile1298Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121908954 GRCh37 Chromosome 2, 71829924: 71829924
44 DYSF NM_003494.3(DYSF): c.3892A> G (p.Ile1298Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121908954 GRCh38 Chromosome 2, 71602794: 71602794
45 DYSF NM_003494.3(DYSF): c.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908955 GRCh37 Chromosome 2, 71909727: 71909727
46 DYSF NM_003494.3(DYSF): c.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908955 GRCh38 Chromosome 2, 71682597: 71682597
47 DYSF NM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs) indel Pathogenic rs786200896 GRCh37 Chromosome 2, 71887767: 71887771
48 DYSF NM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs) indel Pathogenic rs786200896 GRCh38 Chromosome 2, 71660637: 71660641
49 DYSF NM_003494.3(DYSF): c.5039_5057+4dup duplication Pathogenic rs786205082 GRCh38 Chromosome 2, 71664420: 71664442
50 DYSF NM_003494.3(DYSF): c.5039_5057+4dup duplication Pathogenic rs786205082 GRCh37 Chromosome 2, 71891550: 71891572

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
36 ICD9CM
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38 KEGG
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41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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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