MCID: MSC113
MIFTS: 53

Muscular Dystrophy, Limb-Girdle, Type 2b malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases categories

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2b 49 11 65
Limb-Girdle Muscular Dystrophy, Type 2b 32 45 22 24
Lgmd2b 45 22 47 67
Lgmd3 45 67
 
Muscular Dystrophy, Limb-Girdle, Type 3 45
Muscular Dystrophy Limb-Girdle Type 3 67
Limb-Girdle Muscular Dystrophy 2b 67


Classifications:



External Ids:

OMIM49 253601
MedGen34 C1850889
MeSH36 D049288

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

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NIH Rare Diseases:45 Limb-girdle muscular dystrophy type 2b (lgmd2b) is an inherited condition that affects the muscles and is caused by mutations in the gene encoding dysferlin, located on chromosome 2p12. this condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles, primarily those in the shoulders and around the hips. individuals with lgmd2b have minimal shoulder girdle and calf involvement. age of onset is between the teen years and the late 30s. there is no clear evidence of cardiac involvement. the condition is inherited in an autosomal recessive manner. no specific treatment is known. many patients utilize physical therapy to prevent the worsening of contractures. last updated: 11/1/2010

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2b, also known as limb-girdle muscular dystrophy, type 2b, is related to muscular dystrophy and limb-girdle muscular dystrophy, and has symptoms including autosomal recessive inheritance, elevated serum creatine phosphokinase and emg. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2b is DYSF (Dysferlin), and among its related pathways are Striated Muscle Contraction and Hypertrophic cardiomyopathy (HCM). Affiliated tissues include skeletal muscle, endothelial and myeloid, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

UniProtKB/Swiss-Prot:67 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:49 253601

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 2b

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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 Limb-Girdle Muscular Dystrophy Type 1d
Limb-Girdle Muscular Dystrophies, Autosomal Dominant Limb-Girdle Muscular Dystrophies, Autosomal Recessive
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy29.8CAPN3, CAV3, DMD, DYSF, FKRP, MYOT
2limb-girdle muscular dystrophy11.0
3myopathy10.8
4dysferlinopathy10.8
5autosomal recessive limb-girdle muscular dystrophy type 2b10.7
6cardiomyopathy10.6
7polymyositis10.5
8dysphagia10.5
9isolated pierre robin sequence10.2CAPN3, FKRP
10miyoshi muscular dystrophy 110.1CAPN3, DYSF, MYOF
11dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease10.1CAPN3, DYSF, MYOF
12peeling skin syndrome 210.1CAPN3, SGCB
13lockwood feingold syndrome10.1DMD, DYSF
14stormorken syndrome10.1DMD, DYSF
15muscular dystrophy, limb-girdle, type 2a10.1
16calpainopathy10.1
17muscular dystrophy, limb-girdle, type ic10.1CAV3, DYSF, FKRP
18dmd-related dilated cardiomyopathy10.0DMD, SGCA
19progressive non-fluent aphasia10.0DMD, SGCA
20facioscapulohumeral muscular dystrophy 110.0CAPN3, DMD
21congenital fibrosis of the extraocular muscles10.0DMD, DYSF
22myopathy with deficiency of iscu9.9DMD, MYOT
23col12a1-related muscle diseases9.9DMD, FKRP
24rippling muscle disease9.9CAV3, DYSF, TTN
25myasthenia gravis9.9CAV3, TTN
26muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus9.9DMD, FKRP, SGCA
27reductional transverse limb defects9.8DMD, TTN
28lennox-gastaut syndrome9.8DMD, FKRP, SGCA
29immunodeficiency 34, mycobacteriosis, x-linked9.8DMD, DYSF, FKRP, SGCA
30minicore myopathy with external ophthalmoplegia9.8DMD, MYOT
31sarcoidosis, susceptibility 29.8DMD, DYSF, SGCA, SGCB
32septate vagina9.7DMD, TCAP, TTN
33muscular dystrophy, congenital9.7CAPN3, DMD, FKRP, SGCA
34invasive bladder transitional cell carcinoma9.7DMD, TCAP, TTN
35myotonic disease9.7CAPN3, DMD, DYSF, TTN
36muscular dystrophy, limb-girdle, type 2h9.5CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
37glycogen storage disease 0, muscle9.5CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
38drug-induced hepatitis9.4DMD, FKRP, SGCA, TCAP, TTN
39becker muscular dystrophy9.4CAV3, DMD, SGCA, SGCB, TTN
40acute pericementitis9.3CAPN3, CAV3, DMD, DYSF, MYOT, TTN
41myopathy of extraocular muscle9.3CAPN3, CAV3, DYSF, FKRP, MYOT, TCAP
42lmna-related muscle diseases9.2CAPN3, DMD, DYSF, FKRP, SGCA, TCAP
43muscular dystrophy, limb-girdle, type 1a9.2CAPN3, CAV3, DYSF, FKRP, MYOT, TCAP
44muscular dystrophy, limb-girdle, type 2e9.1CAPN3, DYSF, FKRP, SGCA, SGCB, TCAP
45cardiomyopathy with or without skeletal myopathy9.1CAV3, DMD, FKRP, MYOT, SGCA, TCAP
46cardiomyopathy, hypertrophic, 259.1CAPN3, DMD, DYSF, FKRP, MYOT, TCAP
47cornelia de lange syndrome8.9CAPN3, CAV3, DYSF, MYOT, SGCA, SGCB
48muscular dystrophy, limb-girdle, type 2f8.9CAPN3, DMD, DYSF, FKRP, SGCA, SGCB
49cartilage disease8.5CAPN3, CAV3, DMD, DYSF, FKRP, MYOT
50myeloid leukemia8.5CAPN3, CAV3, DMD, DYSF, FKRP, MYOT

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 for Muscular Dystrophy, Limb-Girdle, Type 2b

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Symptoms by clinical synopsis from OMIM:

253601

Clinical features from OMIM:

253601

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

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 elevated serum creatine phosphokinase HP:0003236
3 emg HP:0003458
4 difficulty climbing stairs HP:0003551
5 muscle fiber splitting HP:0003555
6 increased variability in muscle fiber diameter HP:0003557
7 muscular dystrophy HP:0003560
8 slow progression HP:0003677
9 proximal muscle weakness HP:0003701
10 increased connective tissue HP:0009025
11 difficulty running HP:0009046

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

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Drugs for Muscular Dystrophy, Limb-Girdle, Type 2b (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1DeflazacortPhase 2, Phase 31214484-47-0

Interventional clinical trials:

idNameStatusNCT IDPhase
1Deflazacort in DysferlinopathiesCompletedNCT00527228Phase 2, Phase 3
2The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular DystrophiesRecruitingNCT02579239Phase 1, Phase 2
3Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334
4Clinical Outcome Study for DysferlinopathyActive, not recruitingNCT01676077

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

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

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2b22
2 Limb-Girdle Muscular Dystrophy, Type 2b24

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

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

33
Skeletal muscle, Endothelial, Myeloid, B cells

Animal Models for Muscular Dystrophy, Limb-Girdle, Type 2b or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053856.6CAPN3, CAV3, DMD, MYOF, SGCA, SGCB
2MP:00053766.6CAPN3, CAV3, DMD, DYSF, FKRP, SGCA
3MP:00053695.8CAPN3, CAV3, DMD, DYSF, FKRP, MYOF

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

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

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

67 (show all 25)
id Symbol AA change Variation ID SNP ID
1DYSFp.Pro791ArgVAR_012308
2DYSFp.Ile1298ValVAR_012309rs121908954
3DYSFp.Arg2042CysVAR_012311
4DYSFp.Ala170GluVAR_024853rs34999029
5DYSFp.Arg555TrpVAR_024859
6DYSFp.Arg959TrpVAR_024860
7DYSFp.Ile1208MetVAR_024865rs148858485
8DYSFp.Glu1335LysVAR_024868
9DYSFp.Trp52ArgVAR_057834
10DYSFp.Val67AspVAR_057835
11DYSFp.Gly155ArgVAR_057837
12DYSFp.Gly234GluVAR_057838
13DYSFp.Ile284ThrVAR_057839
14DYSFp.Gly299ArgVAR_057840
15DYSFp.Gly618ArgVAR_057851
16DYSFp.Gly621ArgVAR_057852
17DYSFp.Asp625TyrVAR_057853
18DYSFp.Pro731ArgVAR_057854
19DYSFp.Leu1228ProVAR_057860
20DYSFp.Leu1341ProVAR_057862
21DYSFp.Tyr1505CysVAR_057864
22DYSFp.Lys1526ThrVAR_057865rs76086153
23DYSFp.Gly1543AspVAR_057866
24DYSFp.Glu1734GlyVAR_057872
25DYSFp.Pro1970SerVAR_057880

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

5 (show all 76)
id Gene Variation Type Significance SNP ID Assembly Location
1DYSFNM_003494.3(DYSF): c.3832C> T (p.Gln1278Ter)single nucleotide variantPathogenicrs727503911GRCh37Chr 2, 71827961: 71827961
2DYSFNM_003494.3(DYSF): c.5266C> T (p.Gln1756Ter)single nucleotide variantPathogenicrs727503912GRCh37Chr 2, 71894571: 71894571
3DYSFNM_003494.3(DYSF): c.5525+1G> Asingle nucleotide variantPathogenicrs727503915GRCh37Chr 2, 71896338: 71896338
4DYSFNM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys)single nucleotide variantPathogenicrs786205084GRCh38Chr 2, 71668842: 71668842
5DYSFNM_003494.3(DYSF): c.1931-2deldeletionPathogenicrs774047700GRCh38Chr 2, 71553805: 71553805
6DYSFNM_003494.3(DYSF): c.1956G> A (p.Trp652Ter)single nucleotide variantPathogenicrs794727343GRCh37Chr 2, 71780962: 71780962
7DYSFNM_003494.3(DYSF): c.3041A> G (p.Tyr1014Cys)single nucleotide variantPathogenicrs756328339GRCh37Chr 2, 71797738: 71797738
8DYSFNM_003494.3(DYSF): c.3230G> A (p.Trp1077Ter)single nucleotide variantPathogenicrs794727534GRCh37Chr 2, 71801383: 71801383
9DYSFNM_003494.3(DYSF): c.3349-2A> Gsingle nucleotide variantPathogenicrs370874727GRCh37Chr 2, 71816721: 71816721
10DYSFNM_003494.3(DYSF): c.265C> T (p.Arg89Ter)single nucleotide variantPathogenicrs794727636GRCh37Chr 2, 71730372: 71730372
11DYSFNM_003494.3(DYSF): c.4434G> A (p.Trp1478Ter)single nucleotide variantPathogenicrs766016391GRCh38Chr 2, 71643988: 71643988
12DYSFNM_003494.3(DYSF): c.790G> T (p.Glu264Ter)single nucleotide variantPathogenicrs794727851GRCh38Chr 2, 71515749: 71515749
13DYSFNM_003494.3(DYSF): c.701G> A (p.Gly234Glu)single nucleotide variantLikely pathogenicrs141497053GRCh38Chr 2, 71515660: 71515660
14DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionLikely pathogenic, PathogenicGRCh37Chr 2, 71817414: 71817415
15DYSFNM_003494.3(DYSF): c.2643+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs140108514GRCh37Chr 2, 71795213: 71795213
16DYSFNM_003494.3(DYSF): c.1167_1180+1dupduplicationPathogenicGRCh37Chr 2, 71753463: 71753477
17DYSFNM_003494.3(DYSF): c.164dupA (p.Ile57Hisfs)duplicationPathogenicGRCh37Chr 2, 71709028: 71709028
18DYSFNM_003494.3(DYSF): c.1834C> T (p.Gln612Ter)single nucleotide variantPathogenicrs746873768GRCh37Chr 2, 71780222: 71780222
19DYSFNM_003494.3(DYSF): c.1852G> C (p.Gly618Arg)single nucleotide variantLikely pathogenicrs201049092GRCh37Chr 2, 71780240: 71780240
20DYSFNM_003494.3(DYSF): c.3112C> T (p.Arg1038Ter)single nucleotide variantPathogenicrs369607332GRCh37Chr 2, 71797809: 71797809
21DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionLikely pathogenic, PathogenicGRCh37Chr 2, 71817414: 71817415
22DYSFNM_003494.3(DYSF): c.5077C> T (p.Arg1693Trp)single nucleotide variantLikely pathogenicGRCh37Chr 2, 71892311: 71892311
23DYSFNM_001130978.1(DYSF): c.3892A> G (p.Ile1298Val)single nucleotide variantPathogenicrs121908954GRCh37Chr 2, 71829924: 71829924
24DYSFNM_001130978.1(DYSF): c.6187C> T (p.Arg2063Cys)single nucleotide variantPathogenicrs121908955GRCh37Chr 2, 71909727: 71909727
25DYSFNM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs)indelPathogenicrs786200896GRCh37Chr 2, 71887767: 71887771
26DYSFNM_003494.3(DYSF): c.5039_5057+4dup23duplicationPathogenicrs786205082GRCh38Chr 2, 71664420: 71664442
27DYSFNM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg)single nucleotide variantPathogenicrs121908956GRCh37Chr 2, 71791204: 71791204
28DYSFNM_003494.3(DYSF): c.5057+5G> Asingle nucleotide variantPathogenicrs745891180GRCh38Chr 2, 71664443: 71664443
29DYSFNM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp)indelPathogenicrs121908957GRCh37Chr 2, 71709064: 71709065
30DYSFNM_001130978.1(DYSF): c.2997G> T (p.Trp999Cys)single nucleotide variantPathogenicrs28937581GRCh37Chr 2, 71797430: 71797430
31DYSFNM_001130978.1(DYSF): c.3137G> A (p.Arg1046His)single nucleotide variantPathogenicrs121908958GRCh37Chr 2, 71797834: 71797834
32DYSFNM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)single nucleotide variantPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372
33DYSFNM_001130978.1(DYSF): c.1873G> T (p.Asp625Tyr)single nucleotide variantPathogenicrs121908960GRCh37Chr 2, 71780261: 71780261
34DYSFNM_001130978.1(DYSF): c.5264A> G (p.Glu1755Gly)single nucleotide variantPathogenicrs121908961GRCh37Chr 2, 71894506: 71894506
35DYSFNM_003494.3(DYSF): c.3443-33A> Gsingle nucleotide variantPathogenicrs786205083GRCh38Chr 2, 71590178: 71590178
36DYSFNM_001130978.1(DYSF): c.895G> A (p.Gly299Arg)single nucleotide variantPathogenicrs121908963GRCh37Chr 2, 71744158: 71744158
37DYSFNM_003494.3(DYSF): c.1285-2A> Gsingle nucleotide variantPathogenicrs786200897GRCh37Chr 2, 71762149: 71762149
38DYSFNM_003494.3(DYSF): c.855+1delGdeletionPathogenicrs786200898GRCh37Chr 2, 71743373: 71743373
39DYSFNM_003494.3(DYSF): c.2779delG (p.Ala927Leufs)deletionPathogenicrs727503909GRCh37Chr 2, 71795437: 71795437
40DYSFNM_003494.3(DYSF): c.1053+1G> Asingle nucleotide variantPathogenicrs398123763GRCh37Chr 2, 71748035: 71748035
41DYSFNM_003494.3(DYSF): c.107_108delAA (p.Lys36Serfs)deletionPathogenicrs398123764GRCh37Chr 2, 71708031: 71708032
42DYSFNM_003494.3(DYSF): c.1284+2T> Csingle nucleotide variantPathogenicrs398123765GRCh37Chr 2, 71755533: 71755533
43DYSFNM_003494.3(DYSF): c.1368C> A (p.Cys456Ter)single nucleotide variantPathogenicrs202044973GRCh37Chr 2, 71762412: 71762412
44DYSFNM_003494.3(DYSF): c.1392dupA (p.Asp465Argfs)duplicationPathogenicrs398123767GRCh37Chr 2, 71762436: 71762436
45DYSFNM_003494.3(DYSF): c.1398-1G> Asingle nucleotide variantPathogenicrs398123768GRCh37Chr 2, 71766286: 71766286
46DYSFNM_003494.3(DYSF): c.1398-2A> Gsingle nucleotide variantPathogenicrs398123769GRCh37Chr 2, 71766285: 71766285
47DYSFNM_003494.3(DYSF): c.1481-1G> Asingle nucleotide variantPathogenicrs398123770GRCh37Chr 2, 71776479: 71776479
48DYSFNM_003494.3(DYSF): c.1638+2T> Asingle nucleotide variantPathogenicrs398123771GRCh37Chr 2, 71778288: 71778288
49DYSFNM_003494.3(DYSF): c.1642delG (p.Glu548Lysfs)deletionPathogenicrs398123772GRCh37Chr 2, 71778740: 71778740
50DYSFNM_003494.3(DYSF): c.1663C> T (p.Arg555Trp)single nucleotide variantPathogenicrs377735262GRCh37Chr 2, 71778761: 71778761
51DYSFNM_003494.3(DYSF): c.2311C> T (p.Gln771Ter)single nucleotide variantPathogenicrs398123773GRCh37Chr 2, 71789030: 71789030
52DYSFNM_003494.3(DYSF): c.2643+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs140108514GRCh37Chr 2, 71795213: 71795213
53DYSFNM_003494.3(DYSF): c.2869C> T (p.Gln957Ter)single nucleotide variantPathogenicrs398123776GRCh37Chr 2, 71797008: 71797008
54DYSFNM_003494.3(DYSF): c.2870_2874delAGACC (p.Gln957Profs)deletionPathogenicrs398123777GRCh37Chr 2, 71797009: 71797013
55DYSFNM_003494.3(DYSF): c.3327_3328delGT (p.Phe1110Cysfs)deletionPathogenicrs398123780GRCh37Chr 2, 71801480: 71801481
56DYSFNM_003494.3(DYSF): c.3444_3445delTGinsAA (p.Tyr1148Ter)indelPathogenicrs398123781GRCh37Chr 2, 71817342: 71817343
57DYSFNM_003494.3(DYSF): c.353delT (p.Val118Alafs)deletionPathogenicrs398123782GRCh37Chr 2, 71738947: 71738947
58DYSFNM_003494.3(DYSF): c.3641delC (p.Pro1214Argfs)deletionPathogenicrs398123783GRCh37Chr 2, 71825814: 71825814
59DYSFNM_003494.3(DYSF): c.393_394delCC (p.Leu132Valfs)deletionPathogenicrs398123784GRCh37Chr 2, 71738987: 71738988
60DYSFNM_003494.3(DYSF): c.4200dupC (p.Ile1401Hisfs)duplicationPathogenicrs398123786GRCh37Chr 2, 71839803: 71839803
61DYSFNM_003494.3(DYSF): c.4253G> A (p.Gly1418Asp)single nucleotide variantPathogenicrs398123787GRCh37Chr 2, 71839856: 71839856
62DYSFNM_003494.3(DYSF): c.4577A> C (p.Lys1526Thr)single nucleotide variantLikely pathogenicrs76086153GRCh37Chr 2, 71883359: 71883359
63DYSFNM_003494.3(DYSF): c.4756C> T (p.Arg1586Ter)single nucleotide variantPathogenicrs398123789GRCh37Chr 2, 71886125: 71886125
64DYSFNM_003494.3(DYSF): c.4894G> T (p.Glu1632Ter)single nucleotide variantPathogenicrs398123790GRCh37Chr 2, 71891405: 71891405
65DYSFNM_003494.3(DYSF): c.5341-2A> Csingle nucleotide variantPathogenicrs398123792GRCh37Chr 2, 71895882: 71895882
66DYSFNM_003494.3(DYSF): c.5429+1G> Tsingle nucleotide variantPathogenicrs398123793GRCh37Chr 2, 71895973: 71895973
67DYSFNM_003494.3(DYSF): c.5497G> T (p.Glu1833Ter)single nucleotide variantPathogenicrs201592500GRCh37Chr 2, 71896309: 71896309
68DYSFNM_003494.3(DYSF): c.5509G> A (p.Asp1837Asn)single nucleotide variantPathogenicrs398123794GRCh37Chr 2, 71896321: 71896321
69DYSFNM_003494.3(DYSF): c.5644C> T (p.Gln1882Ter)single nucleotide variantPathogenicrs398123795GRCh37Chr 2, 71896853: 71896853
70DYSFNM_003494.3(DYSF): c.5698_5699delAG (p.Ser1900Glnfs)deletionPathogenicrs398123796GRCh37Chr 2, 71901357: 71901358
71DYSFNM_003494.3(DYSF): c.5836_5839delCAGC (p.Gln1946Trpfs)deletionPathogenicrs398123797GRCh37Chr 2, 71906255: 71906258
72DYSFNM_003494.3(DYSF): c.5946+1G> Asingle nucleotide variantPathogenicrs398123798GRCh37Chr 2, 71906366: 71906366
73DYSFNM_003494.3(DYSF): c.5979dupA (p.Glu1994Argfs)duplicationPathogenicrs398123799GRCh37Chr 2, 71908163: 71908163
74DYSFNM_003494.3(DYSF): c.610C> T (p.Arg204Ter)single nucleotide variantPathogenicrs373585652GRCh37Chr 2, 71740998: 71740998
75DYSFNM_003494.3(DYSF): c.663+1G> Csingle nucleotide variantPathogenicrs398123800GRCh37Chr 2, 71741052: 71741052
76DYSFNM_003494.3(DYSF): c.937+1G> Asingle nucleotide variantPathogenicrs201869739GRCh37Chr 2, 71747339: 71747339

Expression for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2b

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LifeMap Discovery
Genes differentially expressed in tissues of Muscular Dystrophy, Limb-Girdle, Type 2b patients vs. healthy controls: 32
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1MYH3myosin, heavy chain 3, skeletal muscle, embryonicSkeletal Muscle+4.550.000

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2b.

Pathways for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2b

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.1CAV3, DMD, DYSF, TCAP, TTN
2
Show member pathways
8.1DMD, SGCA, SGCB, TTN

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

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

idNameGO IDScoreTop Affiliating Genes
1dystroglycan complexGO:001601110.0SGCA, SGCB
2sarcoglycan complexGO:001601210.0SGCA, SGCB
3T-tubuleGO:00303159.8CAPN3, CAV3, DYSF
4I bandGO:00316749.4TCAP, TTN
5membrane raftGO:00451219.0CAV3, DMD, SGCA
6dystrophin-associated glycoprotein complexGO:00160108.1CAV3, DMD, FKRP, SGCA, SGCB
7Z discGO:00300187.4CAPN3, CAV3, DMD, MYOT, TCAP, TTN
8sarcolemmaGO:00423837.0CAV3, DMD, DYSF, FKRP, MYOT, SGCA

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1myoblast fusionGO:000752010.2CAV3, MYOF
2positive regulation of proteolysisGO:004586210.1CAPN3, TRIM32
3cardiac muscle cell developmentGO:005501310.1CAV3, SGCB
4plasma membrane repairGO:000177810.1CAV3, DYSF, MYOF
5cardiac muscle hypertrophyGO:00033009.8TCAP, TTN
6skeletal muscle thin filament assemblyGO:00302409.8TCAP, TTN
7skeletal muscle myosin thick filament assemblyGO:00302419.8TCAP, TTN
8cardiac muscle fiber developmentGO:00487399.8TCAP, TTN
9sarcomerogenesisGO:00487699.8TCAP, TTN
10cardiac myofibril assemblyGO:00550039.8TCAP, TTN
11cardiac muscle tissue morphogenesisGO:00550089.8TCAP, TTN
12regulation of heart rateGO:00020279.7CAV3, DMD
13regulation of skeletal muscle contractionGO:00148199.6CAV3, DMD
14adult heart developmentGO:00075129.6TCAP, TTN
15response to muscle stretchGO:00359949.6DMD, TCAP
16detection of muscle stretchGO:00359959.4CAV3, TCAP, TTN
17sarcomere organizationGO:00452149.3CAPN3, TCAP, TTN
18muscle fiber developmentGO:00487479.2DMD, SGCB
19nucleus localizationGO:00516479.2CAV3, DMD
20muscle cell cellular homeostasisGO:00467169.1CAPN3, CAV3, DMD
21muscle filament slidingGO:00300498.8DMD, TCAP, TTN
22cardiac muscle contractionGO:00600488.7DMD, TCAP, TTN
23muscle contractionGO:00069368.6MYOF, MYOT, SGCA, TTN
24muscle organ developmentGO:00075178.3CAPN3, CAV3, DMD, SGCA, SGCB

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

idNameGO IDScoreTop Affiliating Genes
1titin bindingGO:003143210.1CAPN3, TCAP
2protein complex scaffoldGO:00329479.9CAPN3, CAV3
3nitric-oxide synthase bindingGO:00509989.5CAV3, DMD
4protein self-associationGO:00436219.4TRIM32, TTN
5myosin bindingGO:00170229.3DMD, TRIM32
6structural constituent of muscleGO:00083077.7CAPN3, DMD, MYOT, TCAP, TTN

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet