MCID: MSC113
MIFTS: 58

Muscular Dystrophy, Limb-Girdle, Type 2b

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Type 2b

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 2b:

Name: Muscular Dystrophy, Limb-Girdle, Type 2b 57 13 73
Lgmd2b 57 53 59 75 55
Limb-Girdle Muscular Dystrophy, Type 2b 38 29 6
Lgmd3 57 53 75
Muscular Dystrophy, Limb-Girdle, Type 3 57 53
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 59
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency 59
Muscular Dystrophy, Limb-Girdle, Type 3; Lgmd3 57
Dystrophy, Muscular, Limb-Girdle, Type 2b 40
Limb-Girdle Muscular Dystrophy Type 2b 53
Muscular Dystrophy Limb-Girdle Type 3 75
Limb-Girdle Muscular Dystrophy 2b 37
Limb-Girdle Muscular Dystrophy 2b 75

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, type 2b:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 253601
Orphanet 59 ORPHA268
UMLS via Orphanet 74 C1850889
ICD10 via Orphanet 34 G71.0
MedGen 42 C1850889
MeSH 44 D049288
KEGG 37 H01974
UMLS 73 C1850889

Summaries for Muscular Dystrophy, Limb-Girdle, Type 2b

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, Type 2b, also known as lgmd2b, is related to autosomal recessive limb-girdle muscular dystrophy type 2b and dysferlinopathy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2b is DYSF (Dysferlin), and among its related pathways/superpathways are Cardiac conduction and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The drugs Deflazacort and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include testes and skeletal muscle, and related phenotypes are elevated serum creatine phosphokinase and emg

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, Type 2b

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2b 31.2 CAPN3 CAV3 DYSF MYOF SGCA
2 dysferlinopathy 30.8 CAPN3 DYSF MYOF
3 limb-girdle muscular dystrophy 24.5 CAPN3 CAV3 DMD DYSF FKRP MYOT
4 myopathy 24.1 CAPN3 CAV3 DMD DYSF FKRP MYOT
5 muscular dystrophy 24.0 CAPN3 CAV3 DMD DYSF FKRP MYOF
6 muscular dystrophy, limb-girdle, type 2l 10.5 DYSF FKRP
7 rippling muscle disease 2 10.5 CAV3 DYSF
8 miyoshi muscular dystrophy 1 10.4
9 localized lipodystrophy 10.4 DMD DYSF
10 muscular dystrophy, limb-girdle, type 1f 10.3 CAV3 MYOT
11 autosomal recessive limb-girdle muscular dystrophy type 2e 10.3 CAPN3 SGCB
12 muscular dystrophy, limb-girdle, type 1c 10.2 CAV3 DYSF FKRP
13 autosomal dominant limb-girdle muscular dystrophy 10.1 CAV3 MYOT
14 muscular dystrophy, congenital, 1b 10.1 DMD FKRP
15 cardiomyopathy, dilated, 3b 10.1 DMD SGCA
16 stormorken syndrome 10.1 DMD DYSF
17 mcleod syndrome 10.0 DMD SGCA
18 muscular dystrophy, congenital merosin-deficient, 1a 10.0 DMD SGCA
19 bethlem myopathy 1 9.9 CAPN3 DMD DYSF
20 muscular dystrophy-dystroglycanopathy , type b, 6 9.9 DMD FKRP
21 muscular dystrophy, limb-girdle, type 1e 9.9 CAV3 FKRP MYOT
22 creatine phosphokinase, elevated serum 9.9 CAV3 DMD TCAP
23 myopathy, myofibrillar, 2 9.9 DMD MYOT
24 muscular dystrophy-dystroglycanopathy , type a, 4 9.8 DMD FKRP
25 muscular dystrophy, becker type 9.8 DMD DYSF SGCA
26 polyglucosan body myopathy 1 with or without immunodeficiency 9.8 CAPN3 DMD FKRP
27 muscular dystrophy, limb-girdle, type 2a 9.8 CAPN3 SGCB
28 muscular dystrophy-dystroglycanopathy , type b, 5 9.7 CAV3 DMD FKRP
29 myopathy, myofibrillar, 3 9.7 MYOT TTN
30 cardioneuromyopathy with hyaline masses and nemaline rods 9.7 DMD TTN
31 myofibrillar myopathy 9.7 DMD MYOT
32 reducing body myopathy 9.6 DMD TTN
33 walker-warburg syndrome 9.6 DMD FKRP SGCA
34 autosomal dominant limb-girdle muscular dystrophy type 1c 9.6 CAV3 DYSF FKRP MYOT
35 myopathy, spheroid body 9.6 MYOT TTN
36 autosomal recessive limb-girdle muscular dystrophy type 2f 9.6 CAPN3 DYSF SGCA SGCB
37 muscular dystrophy, congenital, lmna-related 9.5 FKRP TTN
38 muscular dystrophy, limb-girdle, type 2c 9.4 CAPN3 DMD DYSF SGCA
39 rigid spine muscular dystrophy 1 9.4 DMD DYSF TTN
40 familial isolated dilated cardiomyopathy 9.3 DMD TCAP TTN
41 autosomal recessive limb-girdle muscular dystrophy type 2h 9.3 CAPN3 DYSF FKRP MYOT TRIM32
42 left ventricular noncompaction 9.2 DMD TCAP TTN
43 centronuclear myopathy 9.2 CAV3 DMD TTN
44 muscular dystrophy, limb-girdle, type 1a 9.2 CAPN3 CAV3 FKRP MYOT TRIM32
45 muscular dystrophy, limb-girdle, type 2d 9.1 CAPN3 DYSF FKRP SGCA SGCB
46 neuromuscular disease 9.0 DMD MYOT TTN
47 arrhythmogenic right ventricular cardiomyopathy 9.0 DMD SGCA TTN
48 isolated hyperckemia 9.0 CAPN3 CAV3 DMD FKRP TCAP
49 myositis 9.0 CAPN3 DMD DYSF TTN
50 muscular dystrophy, limb-girdle, type 2j 9.0 CAPN3 FKRP MYOT TTN

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



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2b

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 2b

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, Type 2b:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 32 HP:0003236
2 emg 32 HP:0003458
3 difficulty climbing stairs 32 HP:0003551
4 muscle fiber splitting 32 HP:0003555
5 increased variability in muscle fiber diameter 32 HP:0003557
6 muscular dystrophy 32 HP:0003560
7 proximal muscle weakness 32 HP:0003701
8 increased connective tissue 32 HP:0009025
9 difficulty running 32 HP:0009046

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.81 CAPN3 CAV3 DMD FKRP MYOF SGCA
2 homeostasis/metabolism MP:0005376 9.61 TRIM32 TTN CAPN3 CAV3 DMD DYSF
3 muscle MP:0005369 9.36 CAPN3 CAV3 DMD DYSF FKRP MYOF

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Type 2b

Drugs for Muscular Dystrophy, Limb-Girdle, Type 2b (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 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 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
5 Clinical Outcome Study for Dysferlinopathy Active, not recruiting NCT01676077

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 2b

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 2b

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 2b:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2b 29 DYSF

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 2b

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 2b:

41
Testes, Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Type 2b

Articles related to Muscular Dystrophy, Limb-Girdle, Type 2b:

(show all 14)
# 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
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
4
Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report. ( 23641709 )
2013
5
Progressive dysphagia in limb-girdle muscular dystrophy type 2B. ( 21484829 )
2011
6
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. ( 18495154 )
2008
7
Limb-girdle muscular dystrophy type 2B mimicking polymyositis. ( 18392421 )
2008
8
Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. ( 17129727 )
2007
9
Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. ( 16934466 )
2006
10
Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B. ( 15201514 )
2004
11
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). ( 11053681 )
2000
12
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. ( 11134403 )
2000
13
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). ( 10196377 )
1999
14
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. ( 9731527 )
1998

Variations for Muscular Dystrophy, Limb-Girdle, Type 2b

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

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

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2b:

6
(show top 50) (show all 346)
# 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.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic rs121908955 GRCh37 Chromosome 2, 71909727: 71909727
4 DYSF NM_003494.3(DYSF): c.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic rs121908955 GRCh38 Chromosome 2, 71682597: 71682597
5 DYSF NM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs) indel Pathogenic rs786200896 GRCh37 Chromosome 2, 71887767: 71887771
6 DYSF NM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs) indel Pathogenic rs786200896 GRCh38 Chromosome 2, 71660637: 71660641
7 DYSF NM_003494.3(DYSF): c.5039_5057+4dup23 duplication Pathogenic rs786205082 GRCh38 Chromosome 2, 71664420: 71664442
8 DYSF NM_003494.3(DYSF): c.5039_5057+4dup23 duplication Pathogenic rs786205082 GRCh37 Chromosome 2, 71891550: 71891572
9 DYSF NM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg) single nucleotide variant Pathogenic rs121908956 GRCh37 Chromosome 2, 71791204: 71791204
10 DYSF NM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg) single nucleotide variant Pathogenic rs121908956 GRCh38 Chromosome 2, 71564074: 71564074
11 DYSF NM_003494.3(DYSF): c.5057+5G> A single nucleotide variant Pathogenic rs745891180 GRCh38 Chromosome 2, 71664443: 71664443
12 DYSF NM_003494.3(DYSF): c.5057+5G> A single nucleotide variant Pathogenic rs745891180 GRCh37 Chromosome 2, 71891573: 71891573
13 DYSF NM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp) indel Pathogenic rs121908957 GRCh37 Chromosome 2, 71709064: 71709065
14 DYSF NM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp) indel Pathogenic rs121908957 GRCh38 Chromosome 2, 71481934: 71481935
15 DYSF NM_001130978.1(DYSF): c.2997G> T (p.Trp999Cys) single nucleotide variant Pathogenic rs28937581 GRCh37 Chromosome 2, 71797430: 71797430
16 DYSF NM_001130978.1(DYSF): c.2997G> T (p.Trp999Cys) single nucleotide variant Pathogenic rs28937581 GRCh38 Chromosome 2, 71570300: 71570300
17 DYSF NM_001130978.1(DYSF): c.3137G> A (p.Arg1046His) single nucleotide variant Pathogenic rs121908958 GRCh37 Chromosome 2, 71797834: 71797834
18 DYSF NM_001130978.1(DYSF): c.3137G> A (p.Arg1046His) single nucleotide variant Pathogenic rs121908958 GRCh38 Chromosome 2, 71570704: 71570704
19 DYSF NM_003494.3(DYSF): c.5713C> T (p.Arg1905Ter) single nucleotide variant Pathogenic rs121908959 GRCh37 Chromosome 2, 71901372: 71901372
20 DYSF NM_003494.3(DYSF): c.5713C> T (p.Arg1905Ter) single nucleotide variant Pathogenic rs121908959 GRCh38 Chromosome 2, 71674242: 71674242
21 DYSF NM_001130978.1(DYSF): c.1873G> T (p.Asp625Tyr) single nucleotide variant Pathogenic rs121908960 GRCh37 Chromosome 2, 71780261: 71780261
22 DYSF NM_001130978.1(DYSF): c.1873G> T (p.Asp625Tyr) single nucleotide variant Pathogenic rs121908960 GRCh38 Chromosome 2, 71553131: 71553131
23 DYSF NM_001130978.1(DYSF): c.5264A> G (p.Glu1755Gly) single nucleotide variant Pathogenic rs121908961 GRCh37 Chromosome 2, 71894506: 71894506
24 DYSF NM_001130978.1(DYSF): c.5264A> G (p.Glu1755Gly) single nucleotide variant Pathogenic rs121908961 GRCh38 Chromosome 2, 71667376: 71667376
25 DYSF NM_003494.3(DYSF): c.3443-33A> G single nucleotide variant Pathogenic rs786205083 GRCh38 Chromosome 2, 71590178: 71590178
26 DYSF NM_003494.3(DYSF): c.3443-33A> G single nucleotide variant Pathogenic rs786205083 GRCh37 Chromosome 2, 71817308: 71817308
27 DYSF NM_001130978.1(DYSF): c.895G> A (p.Gly299Arg) single nucleotide variant Pathogenic rs121908963 GRCh37 Chromosome 2, 71744158: 71744158
28 DYSF NM_001130978.1(DYSF): c.895G> A (p.Gly299Arg) single nucleotide variant Pathogenic rs121908963 GRCh38 Chromosome 2, 71517028: 71517028
29 DYSF NM_001130978.1(DYSF): c.895G> T (p.Gly299Trp) single nucleotide variant Pathogenic rs121908963 GRCh37 Chromosome 2, 71744158: 71744158
30 DYSF NM_001130978.1(DYSF): c.895G> T (p.Gly299Trp) single nucleotide variant 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.2779delG (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh37 Chromosome 2, 71795437: 71795437
36 DYSF NM_003494.3(DYSF): c.2779delG (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 DYSF NM_003494.3(DYSF): c.1053+1G> A single nucleotide variant Pathogenic rs398123763 GRCh37 Chromosome 2, 71748035: 71748035
40 DYSF NM_003494.3(DYSF): c.1053+1G> A single nucleotide variant Pathogenic rs398123763 GRCh38 Chromosome 2, 71520905: 71520905
41 DYSF NM_003494.3(DYSF): c.107_108delAA (p.Lys36Serfs) deletion Pathogenic rs398123764 GRCh37 Chromosome 2, 71708031: 71708032
42 DYSF NM_003494.3(DYSF): c.107_108delAA (p.Lys36Serfs) deletion Pathogenic rs398123764 GRCh38 Chromosome 2, 71480901: 71480902
43 DYSF NM_003494.3(DYSF): c.1284+2T> C single nucleotide variant Pathogenic rs398123765 GRCh37 Chromosome 2, 71755533: 71755533
44 DYSF NM_003494.3(DYSF): c.1284+2T> C single nucleotide variant Pathogenic rs398123765 GRCh38 Chromosome 2, 71528403: 71528403
45 DYSF NM_003494.3(DYSF): c.1368C> A (p.Cys456Ter) single nucleotide variant Pathogenic rs202044973 GRCh37 Chromosome 2, 71762412: 71762412
46 DYSF NM_003494.3(DYSF): c.1368C> A (p.Cys456Ter) single nucleotide variant Pathogenic rs202044973 GRCh38 Chromosome 2, 71535282: 71535282
47 DYSF NM_003494.3(DYSF): c.1392dupA (p.Asp465Argfs) duplication Pathogenic rs398123767 GRCh37 Chromosome 2, 71762436: 71762436
48 DYSF NM_003494.3(DYSF): c.1392dupA (p.Asp465Argfs) duplication Pathogenic rs398123767 GRCh38 Chromosome 2, 71535306: 71535306
49 DYSF NM_003494.3(DYSF): c.1398-1G> A single nucleotide variant Pathogenic rs398123768 GRCh37 Chromosome 2, 71766286: 71766286
50 DYSF NM_003494.3(DYSF): c.1398-1G> A single nucleotide variant Pathogenic rs398123768 GRCh38 Chromosome 2, 71539156: 71539156

Expression for Muscular Dystrophy, Limb-Girdle, Type 2b

LifeMap Discovery
Genes differentially expressed in tissues of Muscular Dystrophy, Limb-Girdle, Type 2b patients vs. healthy controls: 35
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 MYH3 myosin, heavy chain 3, skeletal muscle, embryonic Skeletal Muscle + 4.55 0.000
Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2b.

Pathways for Muscular Dystrophy, Limb-Girdle, Type 2b

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 2b

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

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.63 CAV3 DMD SGCA
2 Z disc GO:0030018 9.63 CAPN3 CAV3 DMD MYOT TCAP TTN
3 myofibril GO:0030016 9.48 CAPN3 DMD
4 I band GO:0031674 9.43 TCAP TTN
5 T-tubule GO:0030315 9.43 CAPN3 CAV3 DYSF
6 sarcoglycan complex GO:0016012 9.37 SGCA SGCB
7 dystrophin-associated glycoprotein complex GO:0016010 9.35 CAV3 DMD FKRP SGCA SGCB
8 dystroglycan complex GO:0016011 9.32 SGCA SGCB
9 sarcolemma GO:0042383 9.17 CAV3 DMD DYSF FKRP MYOT SGCA
10 plasma membrane GO:0005886 10.06 CAPN3 CAV3 DMD DYSF FKRP MYOF

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.65 CAPN3 CAV3 DMD SGCA SGCB
2 regulation of heart rate GO:0002027 9.62 CAV3 DMD
3 skeletal muscle tissue regeneration GO:0043403 9.62 DMD SGCA
4 myoblast fusion GO:0007520 9.61 CAV3 MYOF
5 positive regulation of proteolysis GO:0045862 9.61 CAPN3 TRIM32
6 cardiac muscle contraction GO:0060048 9.61 DMD TCAP TTN
7 cardiac myofibril assembly GO:0055003 9.6 TCAP TTN
8 cardiac muscle tissue morphogenesis GO:0055008 9.59 TCAP TTN
9 response to muscle stretch GO:0035994 9.58 DMD TCAP
10 muscle fiber development GO:0048747 9.58 DMD SGCB
11 sarcomere organization GO:0045214 9.58 CAPN3 TCAP TTN
12 cardiac muscle fiber development GO:0048739 9.57 TCAP TTN
13 cardiac muscle hypertrophy GO:0003300 9.56 TCAP TTN
14 response to denervation involved in regulation of muscle adaptation GO:0014894 9.55 DMD SGCA
15 skeletal muscle thin filament assembly GO:0030240 9.54 TCAP TTN
16 muscle filament sliding GO:0030049 9.54 DMD TCAP TTN
17 skeletal muscle myosin thick filament assembly GO:0030241 9.52 TCAP TTN
18 cardiac muscle cell development GO:0055013 9.51 CAV3 SGCB
19 plasma membrane repair GO:0001778 9.5 CAV3 DYSF MYOF
20 nucleus localization GO:0051647 9.49 CAV3 DMD
21 regulation of skeletal muscle contraction GO:0014819 9.48 CAV3 DMD
22 sarcomerogenesis GO:0048769 9.46 TCAP TTN
23 detection of muscle stretch GO:0035995 9.33 CAV3 TCAP TTN
24 muscle cell cellular homeostasis GO:0046716 9.26 CAPN3 CAV3 DMD TRIM32
25 muscle contraction GO:0006936 9.1 CAV3 DYSF MYOF MYOT SGCA TTN

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.62 CAPN3 DYSF SGCA TTN
2 myosin binding GO:0017022 9.26 DMD TRIM32
3 nitric-oxide synthase binding GO:0050998 9.16 CAV3 DMD
4 structural constituent of muscle GO:0008307 9.02 CAPN3 DMD MYOT TCAP TTN
5 titin binding GO:0031432 8.96 CAPN3 TCAP

Sources for Muscular Dystrophy, Limb-Girdle, Type 2b

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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