LGMD2B
MCID: MSC170
MIFTS: 56

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 (LGMD2B)

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 57
Lgmd2b 57 53 59 75 55
Beta-Sarcoglycanopathy 12 53 29 6
Limb-Girdle Muscular Dystrophy, Type 2b 38 29 6
Lgmd3 57 53 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 12 15
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 12 15
Muscular Dystrophy, Limb-Girdle, Type 2b 57 13
Muscular Dystrophy, Limb-Girdle, Type 3 57 53
Limb-Girdle Muscular Dystrophy 2b 75 37
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 40
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 59
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency 59
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 57
Muscular Dystrophy, Limb-Girdle, Type 3; Lgmd3 57
Dystrophy, Muscular, Limb-Girdle, Type 2b 40
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 53
Muscular Dystrophy Limb-Girdle Type 3 75
Lgmdr2 57
Lgmd2e 12
Lgmd2s 12
Lgmd2y 12

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
muscular dystrophy, limb-girdle, autosomal recessive 2:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


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

NIH Rare Diseases : 53 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 myopathy, autosomal recessive, with rigid spine and distal joint contractures and dysferlinopathy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 is DYSF (Dysferlin), and among its related pathways/superpathways are Cardiac conduction and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include testes, brain and eye, and related phenotypes are chorea and hyperlordosis

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 : 75 Limb-girdle muscular dystrophy 2B: 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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 myopathy, autosomal recessive, with rigid spine and distal joint contractures 32.8 SGCB TOR1AIP1
2 dysferlinopathy 32.3 CAPN3 DYSF TOR1AIP1
3 autosomal recessive limb-girdle muscular dystrophy type 2b 32.1 CAPN3 CAV3 DYSF SGCA SGCB
4 miyoshi muscular dystrophy 29.7 CAPN3 CAV3 DYSF MYOT TTN
5 dilated cardiomyopathy 29.5 FKRP SGCA SGCB TCAP TTN
6 myopathy 29.4 CAPN3 CAV3 DYSF MYOT TTN
7 autosomal recessive limb-girdle muscular dystrophy 29.0 CAPN3 CAV3 DYSF FKRP SGCA TCAP
8 limb-girdle muscular dystrophy 28.6 CAPN3 CAV3 DYSF FKRP MYOT SGCA
9 muscular dystrophy 28.4 CAPN3 CAV3 DYSF FKRP MYOT SGCA
10 muscular dystrophy, limb-girdle, autosomal recessive 4 11.8
11 muscular dystrophy, limb-girdle, autosomal recessive 18 11.7
12 muscular dystrophy, limb-girdle, autosomal recessive 1 11.3
13 polymyositis 10.5
14 dysphagia 10.3
15 miyoshi muscular dystrophy 1 10.1
16 paresthesia 10.1 CAPN3 FKRP
17 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 CAPN3 FKRP
18 bethlem myopathy 1 10.1 CAPN3 DYSF
19 myoglobinuria 10.1
20 autosomal recessive limb-girdle muscular dystrophy type 2l 10.1 DYSF FKRP SGCB
21 muscular dystrophy, becker type 10.1 DYSF SGCA
22 walker-warburg syndrome 10.0
23 tibial muscular dystrophy 10.0 CAPN3 TTN
24 creatine phosphokinase, elevated serum 10.0 CAV3 TCAP
25 muscular dystrophy-dystroglycanopathy , type b, 5 10.0 CAV3 FKRP
26 muscular atrophy 10.0
27 autosomal dominant limb-girdle muscular dystrophy type 1c 10.0 CAV3 DYSF FKRP
28 rigid spine muscular dystrophy 1 10.0 DYSF TTN
29 myositis 9.9 CAPN3 DYSF TTN
30 autosomal dominant limb-girdle muscular dystrophy 9.9 CAV3 MYOT
31 familial isolated dilated cardiomyopathy 9.9 TCAP TTN
32 muscle eye brain disease 9.9 FKRP SGCA
33 autosomal recessive limb-girdle muscular dystrophy type 2f 9.9 CAPN3 DYSF SGCA SGCB
34 autosomal recessive limb-girdle muscular dystrophy type 2c 9.9 CAPN3 DYSF SGCA SGCB
35 myopathy, myofibrillar, 3 9.9 MYOT TTN
36 myopathy, spheroid body 9.8 MYOT TTN
37 autosomal dominant limb-girdle muscular dystrophy type 1f 9.8 CAV3 MYOT SGCB
38 muscular dystrophy, limb-girdle, autosomal dominant 1 9.8 CAV3 MYOT SGCB
39 muscular dystrophy, congenital, lmna-related 9.8 FKRP TTN
40 isolated hyperckemia 9.8 CAPN3 CAV3 FKRP TCAP
41 hypertrophic cardiomyopathy 9.8 CAV3 TCAP TTN
42 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 CAPN3 DYSF FKRP SGCA SGCB
43 atrial standstill 1 9.7 FKRP MYOT TTN
44 myofibrillar myopathy 9.7 MYOT TCAP TTN
45 autosomal recessive limb-girdle muscular dystrophy type 2g 9.6 CAPN3 DYSF MYOT SGCB TCAP
46 autosomal recessive limb-girdle muscular dystrophy type 2h 9.6 CAPN3 FKRP MYOT SGCB TRIM32
47 muscular dystrophy, limb-girdle, autosomal recessive 8 9.5 CAPN3 DYSF FKRP TCAP TRIM32 TTN
48 muscular dystrophy-dystroglycanopathy , type c, 5 9.5 CAPN3 DYSF FKRP TCAP TRIM32 TTN
49 autosomal dominant limb-girdle muscular dystrophy type 1a 9.5 CAPN3 CAV3 FKRP MYOT TRIM32
50 autosomal recessive limb-girdle muscular dystrophy type 2j 9.5 CAPN3 FKRP MYOT SGCB TTN

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

Symptoms via clinical synopsis from OMIM:

57
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

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

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 CAPN3 CAV3 FKRP SGCA SGCB TCAP
2 homeostasis/metabolism MP:0005376 9.56 CAPN3 CAV3 DYSF FKRP SGCA TCAP
3 muscle MP:0005369 9.28 CAPN3 CAV3 DYSF FKRP SGCA SGCB

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

Search Clinical Trials , 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 29
2 Limb-Girdle Muscular Dystrophy, Type 2b 29 DYSF

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

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

41
Testes, Brain, Eye

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

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

(show all 18)
# Title Authors Year
1
Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia. ( 29966189 )
2018
2
Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review. ( 29794729 )
2018
3
Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B. ( 29175948 )
2018
4
Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies. ( 25574751 )
2014
5
Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected]. ( 23519732 )
2013
6
Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report. ( 23641709 )
2013
7
Progressive dysphagia in limb-girdle muscular dystrophy type 2B. ( 21484829 )
2011
8
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. ( 18495154 )
2008
9
Limb-girdle muscular dystrophy type 2B mimicking polymyositis. ( 18392421 )
2008
10
Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. ( 17129727 )
2007
11
Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. ( 16934466 )
2006
12
Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B. ( 15201514 )
2004
13
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). ( 11053681 )
2000
14
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. ( 11134403 )
2000
15
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). ( 10196377 )
1999
16
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. ( 9731527 )
1998
17
Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. ( 8617508 )
1996
18
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:

75 (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 762)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYSF NM_003494.3(DYSF): c.855+1delG deletion Pathogenic rs786200898 GRCh38 Chromosome 2, 71516243: 71516243
2 DYSF NM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter) single nucleotide variant Pathogenic rs121908953 GRCh37 Chromosome 2, 71780201: 71780201
3 DYSF NM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter) single nucleotide variant Pathogenic rs121908953 GRCh38 Chromosome 2, 71553071: 71553071
4 DYSF NM_003494.3(DYSF): c.3892A> G (p.Ile1298Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121908954 GRCh37 Chromosome 2, 71829924: 71829924
5 DYSF NM_003494.3(DYSF): c.3892A> G (p.Ile1298Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121908954 GRCh38 Chromosome 2, 71602794: 71602794
6 DYSF NM_003494.3(DYSF): c.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908955 GRCh37 Chromosome 2, 71909727: 71909727
7 DYSF NM_003494.3(DYSF): c.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908955 GRCh38 Chromosome 2, 71682597: 71682597
8 DYSF NM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs) indel Pathogenic rs786200896 GRCh37 Chromosome 2, 71887767: 71887771
9 DYSF NM_003494.3(DYSF): c.855+1delG deletion Pathogenic rs786200898 GRCh37 Chromosome 2, 71743373: 71743373
10 DYSF NM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs) indel Pathogenic rs786200896 GRCh38 Chromosome 2, 71660637: 71660641
11 DYSF NM_003494.3(DYSF): c.5039_5057+4dup23 duplication Pathogenic rs786205082 GRCh38 Chromosome 2, 71664420: 71664442
12 DYSF NM_003494.3(DYSF): c.5039_5057+4dup23 duplication Pathogenic rs786205082 GRCh37 Chromosome 2, 71891550: 71891572
13 DYSF NM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg) single nucleotide variant Pathogenic rs121908956 GRCh37 Chromosome 2, 71791204: 71791204
14 DYSF NM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg) single nucleotide variant Pathogenic rs121908956 GRCh38 Chromosome 2, 71564074: 71564074
15 DYSF NM_003494.3(DYSF): c.5057+5G> A single nucleotide variant Pathogenic rs745891180 GRCh38 Chromosome 2, 71664443: 71664443
16 DYSF NM_003494.3(DYSF): c.5057+5G> A single nucleotide variant Pathogenic rs745891180 GRCh37 Chromosome 2, 71891573: 71891573
17 DYSF NM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp) indel Pathogenic rs121908957 GRCh37 Chromosome 2, 71709064: 71709065
18 DYSF NM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp) indel Pathogenic rs121908957 GRCh38 Chromosome 2, 71481934: 71481935
19 DYSF NM_003494.3(DYSF): c.2997G> T (p.Trp999Cys) single nucleotide variant Pathogenic rs28937581 GRCh37 Chromosome 2, 71797430: 71797430
20 DYSF NM_003494.3(DYSF): c.2997G> T (p.Trp999Cys) single nucleotide variant Pathogenic rs28937581 GRCh38 Chromosome 2, 71570300: 71570300
21 DYSF NM_003494.3(DYSF): c.3137G> A (p.Arg1046His) single nucleotide variant Pathogenic/Likely pathogenic rs121908958 GRCh37 Chromosome 2, 71797834: 71797834
22 DYSF NM_003494.3(DYSF): c.3137G> A (p.Arg1046His) single nucleotide variant Pathogenic/Likely pathogenic rs121908958 GRCh38 Chromosome 2, 71570704: 71570704
23 DYSF NM_003494.3(DYSF): c.5713C> T (p.Arg1905Ter) single nucleotide variant Pathogenic rs121908959 GRCh37 Chromosome 2, 71901372: 71901372
24 DYSF NM_003494.3(DYSF): c.5713C> T (p.Arg1905Ter) single nucleotide variant Pathogenic rs121908959 GRCh38 Chromosome 2, 71674242: 71674242
25 DYSF NM_001130978.1(DYSF): c.1873G> T (p.Asp625Tyr) single nucleotide variant Pathogenic rs121908960 GRCh37 Chromosome 2, 71780261: 71780261
26 DYSF NM_001130978.1(DYSF): c.1873G> T (p.Asp625Tyr) single nucleotide variant Pathogenic rs121908960 GRCh38 Chromosome 2, 71553131: 71553131
27 DYSF NM_001130978.1(DYSF): c.5264A> G (p.Glu1755Gly) single nucleotide variant Pathogenic rs121908961 GRCh37 Chromosome 2, 71894506: 71894506
28 DYSF NM_001130978.1(DYSF): c.5264A> G (p.Glu1755Gly) single nucleotide variant Pathogenic rs121908961 GRCh38 Chromosome 2, 71667376: 71667376
29 DYSF NM_003494.3(DYSF): c.3443-33A> G single nucleotide variant Pathogenic rs786205083 GRCh38 Chromosome 2, 71590178: 71590178
30 DYSF NM_003494.3(DYSF): c.3443-33A> G single nucleotide variant Pathogenic rs786205083 GRCh37 Chromosome 2, 71817308: 71817308
31 DYSF NM_003494.3(DYSF): c.895G> A (p.Gly299Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908963 GRCh37 Chromosome 2, 71744158: 71744158
32 DYSF NM_003494.3(DYSF): c.895G> A (p.Gly299Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908963 GRCh38 Chromosome 2, 71517028: 71517028
33 DYSF NM_001130978.1(DYSF): c.895G> T (p.Gly299Trp) single nucleotide variant Pathogenic rs121908963 GRCh37 Chromosome 2, 71744158: 71744158
34 DYSF NM_001130978.1(DYSF): c.895G> T (p.Gly299Trp) single nucleotide variant Pathogenic rs121908963 GRCh38 Chromosome 2, 71517028: 71517028
35 DYSF NM_003494.3(DYSF): c.1285-2A> G single nucleotide variant Pathogenic rs786200897 GRCh37 Chromosome 2, 71762149: 71762149
36 DYSF NM_003494.3(DYSF): c.1285-2A> G single nucleotide variant Pathogenic rs786200897 GRCh38 Chromosome 2, 71535019: 71535019
37 DYSF NM_003494.3(DYSF): c.2779delG (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh37 Chromosome 2, 71795437: 71795437
38 DYSF NM_003494.3(DYSF): c.2779delG (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh38 Chromosome 2, 71568307: 71568307
39 DYSF NM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys) single nucleotide variant Pathogenic rs786205084 GRCh38 Chromosome 2, 71668842: 71668842
40 DYSF NM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys) single nucleotide variant Pathogenic rs786205084 GRCh37 Chromosome 2, 71895972: 71895972
41 SGCB NM_000232.4(SGCB): c.341C> T (p.Ser114Phe) single nucleotide variant Pathogenic/Likely pathogenic rs150518260 GRCh37 Chromosome 4, 52895932: 52895932
42 SGCB NM_000232.4(SGCB): c.341C> T (p.Ser114Phe) single nucleotide variant Pathogenic/Likely pathogenic rs150518260 GRCh38 Chromosome 4, 52029766: 52029766
43 DYSF NM_003494.3(DYSF): c.5371C> T (p.Pro1791Ser) single nucleotide variant Uncertain significance rs145832952 GRCh37 Chromosome 2, 71895914: 71895914
44 DYSF NM_003494.3(DYSF): c.5371C> T (p.Pro1791Ser) single nucleotide variant Uncertain significance rs145832952 GRCh38 Chromosome 2, 71668784: 71668784
45 DYSF NM_003494.3(DYSF): c.5371C> T (p.Pro1791Ser) single nucleotide variant Uncertain significance rs145832952 NCBI36 Chromosome 2, 71749422: 71749422
46 DYSF NM_003494.3(DYSF): c.3618C> T (p.Tyr1206=) single nucleotide variant Uncertain significance rs143393575 GRCh37 Chromosome 2, 71825791: 71825791
47 DYSF NM_003494.3(DYSF): c.3618C> T (p.Tyr1206=) single nucleotide variant Uncertain significance rs143393575 GRCh38 Chromosome 2, 71598661: 71598661
48 DYSF NM_003494.3(DYSF): c.3618C> T (p.Tyr1206=) single nucleotide variant Uncertain significance rs143393575 NCBI36 Chromosome 2, 71679299: 71679299
49 SGCB NM_000232.4(SGCB): c.368A> C (p.Tyr123Ser) single nucleotide variant Uncertain significance rs398123263 GRCh37 Chromosome 4, 52895905: 52895905
50 SGCB NM_000232.4(SGCB): c.368A> C (p.Tyr123Ser) single nucleotide variant Uncertain significance rs398123263 GRCh38 Chromosome 4, 52029739: 52029739

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

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 Z disc GO:0030018 9.55 CAPN3 CAV3 MYOT TCAP TTN
2 sarcomere GO:0030017 9.43 TCAP TTN
3 T-tubule GO:0030315 9.43 CAPN3 CAV3 DYSF
4 I band GO:0031674 9.4 TCAP TTN
5 sarcoglycan complex GO:0016012 9.37 SGCA SGCB
6 dystroglycan complex GO:0016011 9.32 SGCA SGCB
7 dystrophin-associated glycoprotein complex GO:0016010 9.26 CAV3 FKRP SGCA SGCB
8 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 21)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.6 TCAP TTN
2 muscle filament sliding GO:0030049 9.59 TCAP TTN
3 skeletal muscle tissue regeneration GO:0043403 9.58 DYSF SGCA
4 cardiac muscle tissue morphogenesis GO:0055008 9.58 TCAP TTN
5 cardiac myofibril assembly GO:0055003 9.57 TCAP TTN
6 positive regulation of proteolysis GO:0045862 9.56 CAPN3 TRIM32
7 muscle organ development GO:0007517 9.56 CAPN3 CAV3 SGCA SGCB
8 cardiac muscle fiber development GO:0048739 9.55 TCAP TTN
9 skeletal muscle thin filament assembly GO:0030240 9.54 TCAP TTN
10 muscle fiber development GO:0048747 9.52 DYSF SGCB
11 cardiac muscle hypertrophy GO:0003300 9.51 TCAP TTN
12 sarcomere organization GO:0045214 9.5 CAPN3 TCAP TTN
13 skeletal muscle myosin thick filament assembly GO:0030241 9.49 TCAP TTN
14 regulation of calcium ion import GO:0090279 9.48 CAV3 DYSF
15 cardiac muscle cell development GO:0055013 9.46 CAV3 SGCB
16 plasma membrane repair GO:0001778 9.43 CAV3 DYSF
17 T-tubule organization GO:0033292 9.4 CAV3 DYSF
18 sarcomerogenesis GO:0048769 9.37 TCAP TTN
19 muscle contraction GO:0006936 9.35 CAV3 DYSF MYOT SGCA TTN
20 muscle cell cellular homeostasis GO:0046716 9.33 CAPN3 CAV3 TRIM32
21 detection of muscle stretch GO:0035995 8.8 CAV3 TCAP TTN

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 calcium ion binding GO:0005509 9.56 CAPN3 DYSF SGCA TTN
2 protein self-association GO:0043621 9.32 TRIM32 TTN
3 alpha-tubulin binding GO:0043014 9.16 CAV3 DYSF
4 titin binding GO:0031432 8.96 CAPN3 TCAP
5 structural constituent of muscle GO:0008307 8.92 CAPN3 MYOT TCAP TTN

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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