MCID: MSC113
MIFTS: 37

Muscular Dystrophy, Limb-Girdle, Type 2b malady

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

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

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NIH Rare Diseases:41 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 limb-girdle muscular dystrophy and 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). Affiliated tissues include lung, thyroid and placenta.

Description from OMIM:45 253601

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

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Sources:
45OMIM, 30LifeMap Discovery®, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
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Muscular Dystrophy, Limb-Girdle, Type 2b, Aliases & Descriptions:

Name: Muscular Dystrophy, Limb-Girdle, Type 2b 45 10 60
Limb-Girdle Muscular Dystrophy, Type 2b 30 41 20 22
Lgmd2b 41 43 47
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 41 47
 
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency 41 47
Muscular Dystrophy, Limb-Girdle, Type 3 41
Lgmd3 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
lgmd2b:
Inheritance: Autosomal recessive; Age of onset: Adult; Age of death: normal life expectancy


External Ids:

OMIM45 253601
Orphanet47 268
ICD10 via Orphanet26 G71.0

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 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
Muscular Dystrophy, Limb-Girdle, Type Ic Limb-Girdle Muscular Dystrophies, Autosomal Dominant
Limb-Girdle Muscular Dystrophy Type 1d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k

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

idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy11.0
2muscular dystrophy11.0
3myopathy10.8
4dysferlinopathy10.8
5polymyositis10.5
6dysphagia10.5
7muscular dystrophy, limb-girdle, type 2a10.0
8calpainopathy10.0

Graphical network of 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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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy, Limb-Girdle, Type 2b

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 2b20
2 Limb-Girdle Muscular Dystrophy, Type 2b22

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

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

31
Lung, Thyroid, Placenta, Testis, Myeloid

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

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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:

62 (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:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1DYSFDYSF, 5492G-Asingle nucleotide variantPathogenic
2DYSFNM_001130978.1(DYSF): c.3892A> G (p.Ile1298Val)single nucleotide variantPathogenicrs121908954GRCh37Chr 2, 71829924: 71829924
3DYSFNM_001130978.1(DYSF): c.6187C> T (p.Arg2063Cys)single nucleotide variantPathogenicrs121908955GRCh37Chr 2, 71909727: 71909727
4DYSFDYSF, 5-BP DELETION AND 4-BP INSERTION, NT4872indelPathogenic
5DYSFDYSF, 23-BP INSinsertionPathogenic
6DYSFNM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg)single nucleotide variantPathogenicrs121908956GRCh37Chr 2, 71791204: 71791204
7DYSFDYSF, NT5711, G-A, +5single nucleotide variantPathogenic
8DYSFNM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp)indelPathogenicrs121908957GRCh37Chr 2, 71709064: 71709065
9DYSFNM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)single nucleotide variantPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372
10DYSFNM_001130978.1(DYSF): c.1873G> T (p.Asp625Tyr)single nucleotide variantPathogenicrs121908960GRCh37Chr 2, 71780261: 71780261
11DYSFNM_001130978.1(DYSF): c.5264A> G (p.Glu1755Gly)single nucleotide variantPathogenicrs121908961GRCh37Chr 2, 71894506: 71894506
12DYSFDYSF, IVS31DS, A-G, -33single nucleotide variantPathogenic
13DYSFNM_001130978.1(DYSF): c.895G> A (p.Gly299Arg)single nucleotide variantPathogenicrs121908963GRCh37Chr 2, 71744158: 71744158
14DYSFDYSF, IVS14AS, A-G, -2single nucleotide variantPathogenic
15DYSFDYSF, 1-BP DEL, 855+1GdeletionPathogenic
16DYSFDYSF, 1-BP DEL, 2776GdeletionPathogenic

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: 30 (show all 51)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1KRT6Akeratin 6ALung+5.850.000
2MMP12matrix metallopeptidase 12 (macrophage elastase)Lung+5.630.000
3SPRR1Bsmall proline-rich protein 1BLung+5.250.000
4AKR1B10aldo-keto reductase family 1, member B10 (aldose reductase)Lung+5.160.000
5MMP1matrix metallopeptidase 1 (interstitial collagenase)Lung+5.110.000
6KRT6Bkeratin 6BLung+5.100.000
7KRT17keratin 17Lung+4.870.000
8S100A2S100 calcium binding protein A2Lung+4.840.000
9SERPINB5serpin peptidase inhibitor, clade B (ovalbumin), member 5Lung+4.830.000
10GJB2gap junction protein, beta 2, 26kDaLung+4.780.000
11SPRR1Asmall proline-rich protein 1ALung+4.770.000
12KRT5keratin 5Lung+4.730.000
13GREM1gremlin 1, DAN family BMP antagonistLung+4.690.000
14COL11A1collagen, type XI, alpha 1Lung+4.680.000
15TOP2Atopoisomerase (DNA) II alpha 170kDaLung+4.660.000
16GJB6gap junction protein, beta 6, 30kDaLung+4.620.000
17DSTdystoninLung+4.520.000
18DSG3desmoglein 3Lung+4.450.000
19SPRR3small proline-rich protein 3Lung+4.360.000
20PSAT1phosphoserine aminotransferase 1Lung+4.330.000
21SPP1secreted phosphoprotein 1Lung+4.320.000
22KRT15keratin 15Lung+4.300.000
23KRT14keratin 14Lung+4.300.000
24GPX2glutathione peroxidase 2 (gastrointestinal)Lung+4.290.000
25SLC2A1solute carrier family 2 (facilitated glucose transporter), member 1Lung+4.270.000
26SOX2SRY (sex determining region Y)-box 2Lung+4.250.000
27ANLNanillin, actin binding proteinLung+4.210.000
28CDC20cell division cycle 20Lung+4.130.000
29CLCA2chloride channel accessory 2Lung+4.110.000
30TMPRSS4transmembrane protease, serine 4Lung+4.050.000
31TPX2TPX2, microtubule-associatedLung+4.040.000
32RRM2ribonucleotide reductase M2Lung+4.020.000
33BIRC5baculoviral IAP repeat containing 5Lung+3.980.000
34KRT16keratin 16Lung+3.980.000
35ASPMasp (abnormal spindle) homolog, microcephaly associated (Drosophila)Lung+3.960.000
36PTHLHparathyroid hormone-like hormoneLung+3.950.000
37IGF2BP3insulin-like growth factor 2 mRNA binding protein 3Lung+3.930.000
38CCNB1cyclin B1Lung+3.910.000
39TP63tumor protein p63Lung+3.880.000
40WDR72WD repeat domain 72Lung+3.860.000
41DSC3desmocollin 3Lung+3.850.000
42NTSneurotensinLung+3.840.000
43CXCL14chemokine (C-X-C motif) ligand 14Lung+3.820.000
44DSPdesmoplakinLung+3.800.000
45CCNB2cyclin B2Lung+3.800.000
46GPR87G protein-coupled receptor 87Lung+3.790.000
47DLGAP5discs, large (Drosophila) homolog-associated protein 5Lung+3.780.000
48KIAA0101KIAA0101Lung+3.760.000
49UBE2Cubiquitin-conjugating enzyme E2CLung+3.680.000
50FAM83Dfamily with sequence similarity 83, member DLung+3.670.000
51CALML3calmodulin-like 3Lung+3.670.000

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

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

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

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet