MCID: MSC113
MIFTS: 59

Muscular Dystrophy, Limb-Girdle, Type 2b

Categories: Genetic diseases, Rare diseases, Muscle diseases, Metabolic diseases, Neuronal 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 53 13 69
Lgmd2b 53 49 55 71 51
Lgmd3 53 49 71
Muscular Dystrophy, Limb-Girdle, Type 3 53 49
Limb-Girdle Muscular Dystrophy, Type 2b 37 28
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 55
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency 55
Muscular Dystrophy, Limb-Girdle, Type 3; Lgmd3 53
Limb-Girdle Muscular Dystrophy Type 2b 49
Muscular Dystrophy Limb-Girdle Type 3 71
Limb-Girdle Muscular Dystrophy 2b 36
Limb-Girdle Muscular Dystrophy 2b 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
muscular dystrophy, limb-girdle, type 2b:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 253601
Orphanet 55 ORPHA268
UMLS via Orphanet 70 C1850889
ICD10 via Orphanet 33 G71.0
MedGen 39 C1850889
MeSH 41 D049288
KEGG 36 H01974
UMLS 69 C1850889

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

NIH Rare Diseases : 49 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.  Last updated: 12/26/2017

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 miyoshi muscular dystrophy 1, and has symptoms including elevated serum creatine phosphokinase, muscular dystrophy and increased connective tissue. 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 cardiovascular system and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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 57)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2b 31.5 CAPN3 CAV3 DYSF MYOF SGCA
2 miyoshi muscular dystrophy 1 30.9 CAPN3 DYSF MYOF
3 dysferlinopathy 30.6 CAPN3 DYSF MYOF
4 muscular dystrophy 26.9 CAPN3 CAV3 DMD DYSF FKRP MYOT
5 limb-girdle muscular dystrophy 26.9 CAPN3 CAV3 DMD DYSF FKRP MYOT
6 myopathy 26.5 CAPN3 CAV3 DMD DYSF FKRP MYOT
7 rippling muscle disease 2 10.3 CAV3 DYSF
8 muscular dystrophy, limb-girdle, type 2l 10.3 DYSF FKRP
9 localized lipodystrophy 10.2 DMD DYSF
10 muscular dystrophy, limb-girdle, type 1f 10.1 CAV3 MYOT
11 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 CAPN3 DMD
12 muscular dystrophy, limb-girdle, type 1c 10.1 CAV3 DYSF FKRP
13 autosomal recessive limb-girdle muscular dystrophy type 2e 10.1 CAPN3 SGCB
14 muscular dystrophy, congenital, 1b 10.1 DMD FKRP
15 cardiomyopathy, dilated, 3b 10.0 DMD SGCA
16 autosomal dominant limb-girdle muscular dystrophy 10.0 CAV3 MYOT
17 stormorken syndrome 10.0 DMD DYSF
18 muscular dystrophy, congenital merosin-deficient, 1a 10.0 DMD SGCA
19 mcleod syndrome 9.9 DMD SGCA
20 bethlem myopathy 1 9.9 CAPN3 DMD DYSF
21 creatine phosphokinase, elevated serum 9.9 CAV3 DMD TCAP
22 muscular dystrophy, limb-girdle, type 1e 9.9 CAV3 FKRP MYOT
23 muscular dystrophy, becker type 9.9 DMD DYSF SGCA
24 myopathy, myofibrillar, 2 9.9 DMD MYOT
25 muscular dystrophy-dystroglycanopathy , type b, 5 9.8 CAV3 DMD FKRP
26 muscular dystrophy-dystroglycanopathy , type b, 6 9.8 DMD FKRP
27 myopathy, myofibrillar, 3 9.8 MYOT TTN
28 cardioneuromyopathy with hyaline masses and nemaline rods 9.8 DMD TTN
29 muscular dystrophy-dystroglycanopathy , type a, 4 9.7 DMD FKRP
30 muscle eye brain disease 9.7 DMD FKRP SGCA
31 autosomal dominant limb-girdle muscular dystrophy type 1c 9.7 CAV3 DYSF FKRP MYOT
32 walker-warburg syndrome 9.7 DMD FKRP SGCA
33 autosomal recessive limb-girdle muscular dystrophy type 2f 9.7 CAPN3 DYSF SGCA SGCB
34 reducing body myopathy 9.7 DMD TTN
35 myopathy, spheroid body 9.7 MYOT TTN
36 muscular dystrophy, limb-girdle, type 2c 9.6 CAPN3 DMD DYSF SGCA
37 rigid spine muscular dystrophy 1 9.6 DMD DYSF TTN
38 autosomal recessive limb-girdle muscular dystrophy type 2h 9.6 CAPN3 DYSF FKRP MYOT TRIM32
39 familial isolated dilated cardiomyopathy 9.6 DMD TCAP TTN
40 muscular dystrophy, limb-girdle, type 1a 9.5 CAPN3 CAV3 FKRP MYOT TRIM32
41 muscular dystrophy, limb-girdle, type 2d 9.4 CAPN3 DYSF FKRP SGCA SGCB
42 myofibrillar myopathy 9.4 DMD MYOT TTN
43 arrhythmogenic right ventricular cardiomyopathy 9.4 DMD SGCA TTN
44 isolated hyperckemia 9.4 CAPN3 CAV3 DMD FKRP TCAP
45 myositis 9.4 CAPN3 DMD DYSF TTN
46 muscular dystrophy, limb-girdle, type 2j 9.3 CAPN3 FKRP MYOT TTN
47 muscular dystrophy, limb-girdle, type 2g 9.3 CAPN3 DYSF FKRP MYOT TCAP TRIM32
48 centronuclear myopathy 9.3 DMD TTN
49 muscular dystrophy, limb-girdle, type 2h 9.1 CAPN3 DYSF FKRP TCAP TRIM32 TTN
50 muscular dystrophy-dystroglycanopathy , type c, 5 9.1 CAPN3 DYSF FKRP TCAP TRIM32 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:

53
Muscle Soft Tissue:
proximal muscle weakness
difficulty climbing stairs
emg shows myopathic changes
difficulty running
fiber splitting
more
Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

253601

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

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 31 HP:0003236
2 muscular dystrophy 31 HP:0003560
3 increased connective tissue 31 HP:0009025
4 proximal muscle weakness 31 HP:0003701
5 difficulty climbing stairs 31 HP:0003551
6 increased variability in muscle fiber diameter 31 HP:0003557
7 muscle fiber splitting 31 HP:0003555
8 difficulty running 31 HP:0009046
9 emg 31 HP:0003458

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.81 SGCB TCAP TTN CAPN3 CAV3 DMD
2 homeostasis/metabolism MP:0005376 9.61 TCAP TRIM32 TTN CAPN3 CAV3 DMD
3 muscle MP:0005369 9.36 SGCB TCAP TRIM32 TTN CAPN3 CAV3

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 28 DYSF

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

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

38
Testes, Skeletal Muscle

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

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

(show all 18)
# Title Authors Year
1
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
2
Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report. ( 23641709 )
2013
3
Progressive dysphagia in limb-girdle muscular dystrophy type 2B. ( 21484829 )
2011
4
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). ( 20092694 )
2010
5
Limb-girdle muscular dystrophy type 2B mimicking polymyositis. ( 18392421 )
2008
6
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. ( 18495154 )
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
Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. ( 16934466 )
2006
9
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. ( 16010686 )
2005
10
Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B. ( 15201514 )
2004
11
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. ( 11166162 )
2001
12
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). ( 11053681 )
2000
13
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. ( 11134403 )
2000
14
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). ( 10196377 )
1999
15
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. ( 9731527 )
1998
16
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
17
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. ( 8808603 )
1996
18
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

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

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

71 (show all 25)
# 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.Ile1208Met VAR_024865 rs148858485
8 DYSF p.Glu1335Lys VAR_024868 rs758993965
9 DYSF p.Trp52Arg VAR_057834
10 DYSF p.Val67Asp VAR_057835 rs121908957
11 DYSF p.Gly155Arg VAR_057837 rs200970855
12 DYSF p.Gly234Glu VAR_057838 rs141497053
13 DYSF p.Ile284Thr VAR_057839
14 DYSF p.Gly299Arg VAR_057840 rs121908963
15 DYSF p.Gly618Arg VAR_057851 rs201049092
16 DYSF p.Gly621Arg VAR_057852 rs886043900
17 DYSF p.Asp625Tyr VAR_057853 rs121908960
18 DYSF p.Pro731Arg VAR_057854
19 DYSF p.Leu1228Pro VAR_057860
20 DYSF p.Leu1341Pro VAR_057862 rs757917335
21 DYSF p.Tyr1505Cys VAR_057864 rs757820496
22 DYSF p.Lys1526Thr VAR_057865 rs76086153
23 DYSF p.Gly1543Asp VAR_057866
24 DYSF p.Glu1734Gly VAR_057872 rs121908961
25 DYSF p.Pro1970Ser VAR_057880

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

6 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYSF NM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys) single nucleotide variant Pathogenic rs786205084 GRCh38 Chromosome 2, 71668842: 71668842
2 DYSF NM_003494.3(DYSF): c.1053+1G> A single nucleotide variant Pathogenic rs398123763 GRCh37 Chromosome 2, 71748035: 71748035
3 DYSF NM_003494.3(DYSF): c.107_108delAA (p.Lys36Serfs) deletion Pathogenic rs398123764 GRCh37 Chromosome 2, 71708031: 71708032
4 DYSF NM_003494.3(DYSF): c.1284+2T> C single nucleotide variant Pathogenic rs398123765 GRCh37 Chromosome 2, 71755533: 71755533
5 DYSF NM_003494.3(DYSF): c.1368C> A (p.Cys456Ter) single nucleotide variant Pathogenic rs202044973 GRCh37 Chromosome 2, 71762412: 71762412
6 DYSF NM_003494.3(DYSF): c.1392dupA (p.Asp465Argfs) duplication Pathogenic rs398123767 GRCh37 Chromosome 2, 71762436: 71762436
7 DYSF NM_003494.3(DYSF): c.1398-1G> A single nucleotide variant Pathogenic rs398123768 GRCh37 Chromosome 2, 71766286: 71766286
8 DYSF NM_003494.3(DYSF): c.1398-2A> G single nucleotide variant Pathogenic rs398123769 GRCh37 Chromosome 2, 71766285: 71766285
9 DYSF NM_003494.3(DYSF): c.1481-1G> A single nucleotide variant Pathogenic rs398123770 GRCh37 Chromosome 2, 71776479: 71776479
10 DYSF NM_003494.3(DYSF): c.1638+2T> A single nucleotide variant Pathogenic rs398123771 GRCh37 Chromosome 2, 71778288: 71778288
11 DYSF NM_003494.3(DYSF): c.1642delG (p.Glu548Lysfs) deletion Pathogenic rs398123772 GRCh37 Chromosome 2, 71778740: 71778740
12 DYSF NM_003494.3(DYSF): c.1663C> T (p.Arg555Trp) single nucleotide variant Pathogenic rs377735262 GRCh37 Chromosome 2, 71778761: 71778761
13 DYSF NM_003494.3(DYSF): c.2311C> T (p.Gln771Ter) single nucleotide variant Pathogenic rs398123773 GRCh37 Chromosome 2, 71789030: 71789030
14 DYSF NM_003494.3(DYSF): c.2643+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140108514 GRCh37 Chromosome 2, 71795213: 71795213
15 DYSF NM_003494.3(DYSF): c.2869C> T (p.Gln957Ter) single nucleotide variant Pathogenic rs398123776 GRCh37 Chromosome 2, 71797008: 71797008
16 DYSF NM_003494.3(DYSF): c.2870_2874delAGACC (p.Gln957Profs) deletion Pathogenic rs398123777 GRCh37 Chromosome 2, 71797009: 71797013
17 DYSF NM_003494.3(DYSF): c.3327_3328delGT (p.Phe1110Cysfs) deletion Pathogenic rs398123780 GRCh37 Chromosome 2, 71801480: 71801481
18 DYSF NM_003494.3(DYSF): c.3444_3445delTGinsAA (p.Tyr1148Ter) indel Pathogenic rs398123781 GRCh37 Chromosome 2, 71817342: 71817343
19 DYSF NM_003494.3(DYSF): c.353delT (p.Val118Alafs) deletion Pathogenic rs398123782 GRCh37 Chromosome 2, 71738947: 71738947
20 DYSF NM_003494.3(DYSF): c.3641delC (p.Pro1214Argfs) deletion Pathogenic rs398123783 GRCh37 Chromosome 2, 71825814: 71825814
21 DYSF NM_003494.3(DYSF): c.393_394delCC (p.Leu132Valfs) deletion Pathogenic rs398123784 GRCh37 Chromosome 2, 71738987: 71738988
22 DYSF NM_003494.3(DYSF): c.4200dupC (p.Ile1401Hisfs) duplication Pathogenic rs398123786 GRCh37 Chromosome 2, 71839803: 71839803
23 DYSF NM_003494.3(DYSF): c.4756C> T (p.Arg1586Ter) single nucleotide variant Pathogenic rs398123789 GRCh37 Chromosome 2, 71886125: 71886125
24 DYSF NM_003494.3(DYSF): c.4894G> T (p.Glu1632Ter) single nucleotide variant Pathogenic rs398123790 GRCh37 Chromosome 2, 71891405: 71891405
25 DYSF NM_003494.3(DYSF): c.5341-2A> C single nucleotide variant Pathogenic rs398123792 GRCh37 Chromosome 2, 71895882: 71895882
26 DYSF NM_003494.3(DYSF): c.5429+1G> T single nucleotide variant Pathogenic rs398123793 GRCh37 Chromosome 2, 71895973: 71895973
27 DYSF NM_003494.3(DYSF): c.5497G> T (p.Glu1833Ter) single nucleotide variant Pathogenic rs201592500 GRCh37 Chromosome 2, 71896309: 71896309
28 DYSF NM_003494.3(DYSF): c.5509G> A (p.Asp1837Asn) single nucleotide variant Pathogenic rs398123794 GRCh37 Chromosome 2, 71896321: 71896321
29 DYSF NM_003494.3(DYSF): c.5644C> T (p.Gln1882Ter) single nucleotide variant Pathogenic rs398123795 GRCh37 Chromosome 2, 71896853: 71896853
30 DYSF NM_003494.3(DYSF): c.5698_5699delAG (p.Ser1900Glnfs) deletion Pathogenic rs398123796 GRCh37 Chromosome 2, 71901357: 71901358
31 DYSF NM_003494.3(DYSF): c.5836_5839delCAGC (p.Gln1946Trpfs) deletion Pathogenic rs398123797 GRCh37 Chromosome 2, 71906255: 71906258
32 DYSF NM_003494.3(DYSF): c.5946+1G> A single nucleotide variant Pathogenic rs398123798 GRCh37 Chromosome 2, 71906366: 71906366
33 DYSF NM_003494.3(DYSF): c.5979dupA (p.Glu1994Argfs) duplication Pathogenic rs398123799 GRCh37 Chromosome 2, 71908163: 71908163
34 DYSF NM_003494.3(DYSF): c.610C> T (p.Arg204Ter) single nucleotide variant Pathogenic rs373585652 GRCh37 Chromosome 2, 71740998: 71740998
35 DYSF NM_003494.3(DYSF): c.663+1G> C single nucleotide variant Pathogenic rs398123800 GRCh37 Chromosome 2, 71741052: 71741052
36 DYSF NM_003494.3(DYSF): c.937+1G> A single nucleotide variant Pathogenic rs201869739 GRCh37 Chromosome 2, 71747339: 71747339
37 DYSF NM_003494.3(DYSF): c.5266C> T (p.Gln1756Ter) single nucleotide variant Pathogenic rs727503912 GRCh38 Chromosome 2, 71667441: 71667441
38 DYSF NM_003494.3(DYSF): c.3832C> T (p.Gln1278Ter) single nucleotide variant Pathogenic rs727503911 GRCh37 Chromosome 2, 71827961: 71827961
39 DYSF NM_003494.3(DYSF): c.5525+1G> A single nucleotide variant Pathogenic rs727503915 GRCh37 Chromosome 2, 71896338: 71896338
40 DYSF NM_003494.3(DYSF): c.1931-2delA deletion Pathogenic rs774047700 GRCh37 Chromosome 2, 71780935: 71780935
41 DYSF NM_003494.3(DYSF): c.1956G> A (p.Trp652Ter) single nucleotide variant Pathogenic rs794727343 GRCh37 Chromosome 2, 71780962: 71780962
42 DYSF NM_003494.3(DYSF): c.3041A> G (p.Tyr1014Cys) single nucleotide variant Pathogenic rs756328339 GRCh37 Chromosome 2, 71797738: 71797738
43 DYSF NM_003494.3(DYSF): c.3230G> A (p.Trp1077Ter) single nucleotide variant Pathogenic rs794727534 GRCh37 Chromosome 2, 71801383: 71801383
44 DYSF NM_003494.3(DYSF): c.3349-2A> G single nucleotide variant Pathogenic rs370874727 GRCh37 Chromosome 2, 71816721: 71816721
45 DYSF NM_003494.3(DYSF): c.265C> T (p.Arg89Ter) single nucleotide variant Pathogenic rs794727636 GRCh37 Chromosome 2, 71730372: 71730372
46 DYSF NM_003494.3(DYSF): c.4434G> A (p.Trp1478Ter) single nucleotide variant Pathogenic rs766016391 GRCh37 Chromosome 2, 71871118: 71871118
47 DYSF NM_003494.3(DYSF): c.790G> T (p.Glu264Ter) single nucleotide variant Pathogenic rs794727851 GRCh37 Chromosome 2, 71742879: 71742879
48 DYSF NM_003494.3(DYSF): c.701G> A (p.Gly234Glu) single nucleotide variant Likely pathogenic rs141497053 GRCh37 Chromosome 2, 71742790: 71742790
49 DYSF NM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter) single nucleotide variant Pathogenic rs121908953 GRCh37 Chromosome 2, 71780201: 71780201
50 DYSF NM_003494.3(DYSF): c.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic rs121908955 GRCh37 Chromosome 2, 71909727: 71909727

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 T-tubule GO:0030315 9.43 CAPN3 CAV3 DYSF
5 I band GO:0031674 9.4 TCAP TTN
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 10.09 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 cardiac muscle contraction GO:0060048 9.65 DMD TCAP TTN
2 muscle organ development GO:0007517 9.65 CAPN3 CAV3 DMD SGCA SGCB
3 regulation of heart rate GO:0002027 9.62 CAV3 DMD
4 skeletal muscle tissue regeneration GO:0043403 9.62 DMD SGCA
5 myoblast fusion GO:0007520 9.61 CAV3 MYOF
6 positive regulation of proteolysis GO:0045862 9.61 CAPN3 TRIM32
7 response to muscle stretch GO:0035994 9.6 DMD TCAP
8 muscle fiber development GO:0048747 9.59 DMD SGCB
9 cardiac myofibril assembly GO:0055003 9.58 TCAP TTN
10 cardiac muscle tissue morphogenesis GO:0055008 9.58 TCAP TTN
11 sarcomere organization GO:0045214 9.58 CAPN3 TCAP TTN
12 response to denervation involved in regulation of muscle adaptation GO:0014894 9.57 DMD SGCA
13 cardiac muscle hypertrophy GO:0003300 9.56 TCAP TTN
14 cardiac muscle fiber development GO:0048739 9.55 TCAP TTN
15 cardiac muscle cell development GO:0055013 9.54 CAV3 SGCB
16 muscle filament sliding GO:0030049 9.54 DMD TCAP TTN
17 skeletal muscle thin filament assembly GO:0030240 9.52 TCAP TTN
18 nucleus localization GO:0051647 9.51 CAV3 DMD
19 plasma membrane repair GO:0001778 9.5 CAV3 DYSF MYOF
20 regulation of skeletal muscle contraction GO:0014819 9.49 CAV3 DMD
21 skeletal muscle myosin thick filament assembly GO:0030241 9.46 TCAP TTN
22 sarcomerogenesis GO:0048769 9.43 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 protein complex scaffold activity GO:0032947 9.32 CAPN3 CAV3
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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