LGMD2B
MCID: MSC113
MIFTS: 54

Muscular Dystrophy, Limb-Girdle, Type 2b (LGMD2B) malady

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2b 54 13 69
Lgmd2b 50 24 56 66
Limb-Girdle Muscular Dystrophy, Type 2b 38 50
Limb-Girdle Muscular Dystrophy 2b 66 29
Lgmd3 50 66
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 56
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency 56
Muscular Dystrophy, Limb-Girdle, Type 3 50
Limb-Girdle Muscular Dystrophy Type 2b 24
Muscular Dystrophy Limb-Girdle Type 3 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 253601
Orphanet 56 ORPHA268
ICD10 via Orphanet 34 G71.0
MedGen 40 C1850889
MeSH 42 D049288

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

NIH Rare Diseases : 50 limb-girdle muscular dystrophy, type 2b (lgmd2b) is one of many forms of limb-girdle muscular dystrophy, a group of disorders that affect the voluntary muscles of the hips and shoulders. lgmd2b is characterized by early weakness and wasting (atrophy) of the pelvic and shoulder girdle muscles in adolescence or young adulthood. the age of onset typically ranges from 15 to 35 years, and legs are usually affected first. symptoms include the inability to tiptoe and difficulty walking and running. cardiac (heart) and respiratory involvement is uncommon. it is usually slowly progressive, with need of a wheelchair 10 to 20 years after onset. lgmd2b is caused by mutations in the dysf gene and is inherited in an autosomal recessive manner. there is no specific treatment. management is tailored to each person and may include physical therapy and stretching exercises; use of aids for mobility; and surgery as needed for orthopedic complications. last updated: 3/21/2016

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, 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 Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle, and related phenotypes are cardiovascular system and homeostasis/metabolism

UniProtKB/Swiss-Prot : 66 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 1b Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type Ic Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2e Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 1f Muscular Dystrophy, Limb-Girdle, Type 1e
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 2c
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 2d 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 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Limb-Girdle Muscular Dystrophy 2z

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

(show top 50) (show all 66)
id Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2b 11.3
2 dysferlinopathy 11.2
3 muscular dystrophy 10.6
4 limb-girdle muscular dystrophy 10.6
5 myopathy 10.4
6 cardiomyopathy 10.3
7 lumbar malsegmentation short stature 10.2 DMD DYSF
8 sporadic hemiplegic migraine 10.2 CAPN3 FKRP
9 deafness, autosomal recessive 18b 10.2 DYSF FKRP
10 cerebral hemorrhage 10.2 CAPN3 DYSF SGCB
11 eif2b1-related childhood ataxia with central nervous system hypomyelination/vanishing white matter 10.2 DMD SGCA
12 ptosis 10.1 CAV3 DYSF
13 sudden infant death with dysgenesis of the testes syndrome 10.1 DMD SGCA
14 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 10.1 CAPN3 DYSF MYOF
15 ehlers-danlos syndrome, kyphoscoliotic form 10.1 CAPN3 DYSF MYOF
16 cardiomyopathy, dilated, 1aa, with or without lvnc 10.1 DMD FKRP
17 ullrich congenital muscular dystrophy 1 10.1 CAPN3 DMD DYSF
18 dermatofibrosarcoma protuberans 10.0 DMD FKRP
19 cone-rod dystrophy, prph2-related 10.0 DMD FKRP
20 hypospadias 3, autosomal 10.0 CAV3 MYOT
21 ceroid lipofuscinosis, neuronal, 2 10.0 DMD DYSF
22 prosthetic joint infection 10.0 DMD FKRP SGCA
23 rippling muscle disease 10.0 CAV3 DYSF FKRP
24 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.0 CAV3 DYSF FKRP
25 inflammatory bowel disease 14 10.0 DMD DYSF MYOT
26 myasthenia gravis, limb-girdle 10.0 DMD FKRP SGCA
27 autosomal recessive limb-girdle muscular dystrophy type 2x 10.0 CAPN3 DYSF FKRP SGCA
28 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related 10.0 DMD MYOT
29 sdhc-related paraganglioma and gastric stromal sarcoma 10.0 DMD DYSF SGCA SGCB
30 autosomal dominant nonsyndromic deafness 10.0 DMD FKRP SGCA
31 pancreatic agenesis 1 10.0 CAPN3 DMD DYSF SGCA
32 autoimmune thyroid disease 2 9.9 MYOT TTN
33 thrombocytopenia, x-linked 9.9 DMD DYSF FKRP SGCA
34 congenital myopathy 9.9 DMD TTN
35 autosomal recessive limb-girdle muscular dystrophy type 2f 9.9 CAV3 MYOT
36 short-rib thoracic dysplasia 8 with or without polydactyly 9.9 CAV3 FKRP MYOT
37 glycogen storage disease 0, muscle 9.9 CAV3 DMD FKRP
38 muscular dystrophy, rigid spine, 1 9.9 DMD DYSF TTN
39 asthma-related traits 6 9.9 CAPN3 DYSF FKRP SGCA SGCB
40 creatine phosphokinase, elevated serum 9.9 CAV3 DYSF TTN
41 primary cutaneous gamma/delta-positive t-cell lymphoma 9.8 DMD TCAP TTN
42 celiac disease 2 9.8 MYOT TTN
43 familial partial lipodystrophy 9.8 DMD SGCA TTN
44 nonsyndromic hearing loss and deafness, mitochondrial 9.8 DMD MYOT TTN
45 vulvar eccrine adenocarcinoma 9.8 CAPN3 DMD DYSF TTN
46 long qt syndrome 9 9.7 CAV3 TCAP TTN
47 myopathy, early-onset, with fatal cardiomyopathy 9.7 CAPN3 FKRP MYOT TTN
48 myelofibrosis 9.7 CAV3 TTN
49 neurodegeneration with brain iron accumulation 6 9.7 CAPN3 DYSF FKRP MYOT TCAP TRIM32
50 myopathy, spheroid body 9.6 CAPN3 CAV3 FKRP MYOT TRIM32

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 by clinical synopsis from OMIM:

253601

Clinical features from OMIM:

253601

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

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

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 CAPN3 CAV3 DMD MYOF SGCA SGCB
2 homeostasis/metabolism MP:0005376 9.61 CAPN3 CAV3 DMD DYSF FKRP SGCA
3 muscle MP:0005369 9.36 CAV3 DMD DYSF FKRP MYOF SGCA

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):


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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3
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 Recruiting NCT02710500 Phase 1
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:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2b 29
2 Limb-Girdle Muscular Dystrophy Type 2b 24 DYSF

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

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

39
Heart, Skeletal Muscle

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

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

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

66 (show all 25)
id 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
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 117)
id 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_003494.3(DYSF): c.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic rs121908955 GRCh37 Chromosome 2, 71909727: 71909727
3 DYSF NM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs) indel Pathogenic rs786200896 GRCh37 Chromosome 2, 71887767: 71887771
4 DYSF NM_003494.3(DYSF): c.5039_5057+4dup23 duplication Pathogenic rs786205082 GRCh38 Chromosome 2, 71664420: 71664442
5 DYSF NM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg) single nucleotide variant Pathogenic rs121908956 GRCh37 Chromosome 2, 71791204: 71791204
6 DYSF NM_003494.3(DYSF): c.5057+5G> A single nucleotide variant Pathogenic rs745891180 GRCh38 Chromosome 2, 71664443: 71664443
7 DYSF NM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp) indel Pathogenic rs121908957 GRCh37 Chromosome 2, 71709064: 71709065
8 DYSF NM_001130978.1(DYSF): c.2997G> T (p.Trp999Cys) single nucleotide variant Pathogenic rs28937581 GRCh37 Chromosome 2, 71797430: 71797430
9 DYSF NM_001130978.1(DYSF): c.3137G> A (p.Arg1046His) single nucleotide variant Pathogenic rs121908958 GRCh37 Chromosome 2, 71797834: 71797834
10 DYSF NM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter) single nucleotide variant Pathogenic rs121908959 GRCh37 Chromosome 2, 71901372: 71901372
11 DYSF NM_001130978.1(DYSF): c.1873G> T (p.Asp625Tyr) single nucleotide variant Pathogenic rs121908960 GRCh37 Chromosome 2, 71780261: 71780261
12 DYSF NM_001130978.1(DYSF): c.5264A> G (p.Glu1755Gly) single nucleotide variant Pathogenic rs121908961 GRCh37 Chromosome 2, 71894506: 71894506
13 DYSF NM_003494.3(DYSF): c.3443-33A> G single nucleotide variant Pathogenic rs786205083 GRCh38 Chromosome 2, 71590178: 71590178
14 DYSF NM_001130978.1(DYSF): c.895G> A (p.Gly299Arg) single nucleotide variant Pathogenic rs121908963 GRCh37 Chromosome 2, 71744158: 71744158
15 DYSF NM_003494.3(DYSF): c.1285-2A> G single nucleotide variant Pathogenic rs786200897 GRCh37 Chromosome 2, 71762149: 71762149
16 DYSF NM_003494.3(DYSF): c.855+1delG deletion Pathogenic rs786200898 GRCh37 Chromosome 2, 71743373: 71743373
17 DYSF NM_003494.3(DYSF): c.2779delG (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh37 Chromosome 2, 71795437: 71795437
18 DYSF NM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys) single nucleotide variant Pathogenic rs786205084 GRCh38 Chromosome 2, 71668842: 71668842
19 DYSF NM_003494.3(DYSF): c.1053+1G> A single nucleotide variant Pathogenic rs398123763 GRCh37 Chromosome 2, 71748035: 71748035
20 DYSF NM_003494.3(DYSF): c.107_108delAA (p.Lys36Serfs) deletion Pathogenic rs398123764 GRCh37 Chromosome 2, 71708031: 71708032
21 DYSF NM_003494.3(DYSF): c.1284+2T> C single nucleotide variant Pathogenic rs398123765 GRCh37 Chromosome 2, 71755533: 71755533
22 DYSF NM_003494.3(DYSF): c.1368C> A (p.Cys456Ter) single nucleotide variant Pathogenic rs202044973 GRCh37 Chromosome 2, 71762412: 71762412
23 DYSF NM_003494.3(DYSF): c.1392dupA (p.Asp465Argfs) duplication Pathogenic rs398123767 GRCh37 Chromosome 2, 71762436: 71762436
24 DYSF NM_003494.3(DYSF): c.1398-1G> A single nucleotide variant Pathogenic rs398123768 GRCh37 Chromosome 2, 71766286: 71766286
25 DYSF NM_003494.3(DYSF): c.1398-2A> G single nucleotide variant Pathogenic rs398123769 GRCh37 Chromosome 2, 71766285: 71766285
26 DYSF NM_003494.3(DYSF): c.1481-1G> A single nucleotide variant Pathogenic rs398123770 GRCh37 Chromosome 2, 71776479: 71776479
27 DYSF NM_003494.3(DYSF): c.1638+2T> A single nucleotide variant Pathogenic rs398123771 GRCh37 Chromosome 2, 71778288: 71778288
28 DYSF NM_003494.3(DYSF): c.1642delG (p.Glu548Lysfs) deletion Pathogenic rs398123772 GRCh37 Chromosome 2, 71778740: 71778740
29 DYSF NM_003494.3(DYSF): c.1663C> T (p.Arg555Trp) single nucleotide variant Pathogenic rs377735262 GRCh37 Chromosome 2, 71778761: 71778761
30 DYSF NM_003494.3(DYSF): c.2311C> T (p.Gln771Ter) single nucleotide variant Pathogenic rs398123773 GRCh37 Chromosome 2, 71789030: 71789030
31 DYSF NM_003494.3(DYSF): c.2643+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140108514 GRCh37 Chromosome 2, 71795213: 71795213
32 DYSF NM_003494.3(DYSF): c.2869C> T (p.Gln957Ter) single nucleotide variant Pathogenic rs398123776 GRCh37 Chromosome 2, 71797008: 71797008
33 DYSF NM_003494.3(DYSF): c.2870_2874delAGACC (p.Gln957Profs) deletion Pathogenic rs398123777 GRCh37 Chromosome 2, 71797009: 71797013
34 DYSF NM_003494.3(DYSF): c.3327_3328delGT (p.Phe1110Cysfs) deletion Pathogenic rs398123780 GRCh37 Chromosome 2, 71801480: 71801481
35 DYSF NM_003494.3(DYSF): c.3444_3445delTGinsAA (p.Tyr1148Ter) indel Pathogenic rs398123781 GRCh37 Chromosome 2, 71817342: 71817343
36 DYSF NM_003494.3(DYSF): c.353delT (p.Val118Alafs) deletion Pathogenic rs398123782 GRCh37 Chromosome 2, 71738947: 71738947
37 DYSF NM_003494.3(DYSF): c.3641delC (p.Pro1214Argfs) deletion Pathogenic rs398123783 GRCh37 Chromosome 2, 71825814: 71825814
38 DYSF NM_003494.3(DYSF): c.393_394delCC (p.Leu132Valfs) deletion Pathogenic rs398123784 GRCh37 Chromosome 2, 71738987: 71738988
39 DYSF NM_003494.3(DYSF): c.4200dupC (p.Ile1401Hisfs) duplication Pathogenic rs398123786 GRCh37 Chromosome 2, 71839803: 71839803
40 DYSF NM_003494.3(DYSF): c.4253G> A (p.Gly1418Asp) single nucleotide variant Pathogenic/Likely pathogenic rs398123787 GRCh37 Chromosome 2, 71839856: 71839856
41 DYSF NM_003494.3(DYSF): c.4756C> T (p.Arg1586Ter) single nucleotide variant Pathogenic rs398123789 GRCh37 Chromosome 2, 71886125: 71886125
42 DYSF NM_003494.3(DYSF): c.4894G> T (p.Glu1632Ter) single nucleotide variant Pathogenic rs398123790 GRCh37 Chromosome 2, 71891405: 71891405
43 DYSF NM_003494.3(DYSF): c.5341-2A> C single nucleotide variant Pathogenic rs398123792 GRCh37 Chromosome 2, 71895882: 71895882
44 DYSF NM_003494.3(DYSF): c.5429+1G> T single nucleotide variant Pathogenic rs398123793 GRCh37 Chromosome 2, 71895973: 71895973
45 DYSF NM_003494.3(DYSF): c.5497G> T (p.Glu1833Ter) single nucleotide variant Pathogenic rs201592500 GRCh37 Chromosome 2, 71896309: 71896309
46 DYSF NM_003494.3(DYSF): c.5509G> A (p.Asp1837Asn) single nucleotide variant Pathogenic rs398123794 GRCh37 Chromosome 2, 71896321: 71896321
47 DYSF NM_003494.3(DYSF): c.5644C> T (p.Gln1882Ter) single nucleotide variant Pathogenic rs398123795 GRCh37 Chromosome 2, 71896853: 71896853
48 DYSF NM_003494.3(DYSF): c.5698_5699delAG (p.Ser1900Glnfs) deletion Pathogenic rs398123796 GRCh37 Chromosome 2, 71901357: 71901358
49 DYSF NM_003494.3(DYSF): c.5836_5839delCAGC (p.Gln1946Trpfs) deletion Pathogenic rs398123797 GRCh37 Chromosome 2, 71906255: 71906258
50 DYSF NM_003494.3(DYSF): c.5946+1G> A single nucleotide variant Pathogenic rs398123798 GRCh37 Chromosome 2, 71906366: 71906366

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
id 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:

id 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)
id Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.67 DMD TCAP TTN
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 response to muscle stretch GO:0035994 9.6 DMD TCAP
7 muscle fiber development GO:0048747 9.59 DMD SGCB
8 cardiac muscle tissue morphogenesis GO:0055008 9.58 TCAP TTN
9 cardiac myofibril assembly GO:0055003 9.58 TCAP TTN
10 muscle filament sliding GO:0030049 9.58 DMD TCAP TTN
11 response to denervation involved in regulation of muscle adaptation GO:0014894 9.57 DMD SGCA
12 cardiac muscle fiber development GO:0048739 9.56 TCAP TTN
13 cardiac muscle hypertrophy GO:0003300 9.55 TCAP TTN
14 muscle organ development GO:0007517 9.55 CAPN3 CAV3 DMD SGCA SGCB
15 cardiac muscle cell development GO:0055013 9.54 CAV3 SGCB
16 sarcomere organization GO:0045214 9.54 CAPN3 TCAP TTN
17 nucleus localization GO:0051647 9.52 CAV3 DMD
18 skeletal muscle thin filament assembly GO:0030240 9.51 TCAP TTN
19 plasma membrane repair GO:0001778 9.5 CAV3 DYSF MYOF
20 skeletal muscle myosin thick filament assembly GO:0030241 9.48 TCAP TTN
21 sarcomerogenesis GO:0048769 9.46 TCAP TTN
22 regulation of skeletal muscle contraction GO:0014819 9.43 CAV3 DMD
23 detection of muscle stretch GO:0035995 9.43 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:

id Name GO ID Score Top Affiliating Genes
1 protein complex scaffold 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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