LGMD3
MCID: LMB020
MIFTS: 25

Limb-Girdle Muscular Dystrophy, Type 2b (LGMD3) malady

Neuronal, Muscle categories

Summaries for Limb-Girdle Muscular Dystrophy, Type 2b

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Limb-Girdle Muscular Dystrophy, Type 2b, also known as lgmd2b, is related to limb-girdle muscular dystrophy and dysferlinopathy. An important gene associated with Limb-Girdle Muscular Dystrophy, Type 2b is DYSF (dysferlin). Related mouse phenotype muscle.

Description from OMIM:47 253601

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

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Muscle


Characteristics (Orphanet epidemiological data):

49
lgmd2b:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

limb-girdle muscular dystrophy, type 2b 43 20 22
lgmd2b 43 45 49
muscular dystrophy, limb-girdle, type 2b 47 61
autosomal recessive limb-girdle muscular dystrophy type 2b 49
limb-girdle muscular dystrophy due to dysferlin deficiency 49
muscular dystrophy, limb-girdle, type 3 43
lgmd3 43


External Ids:

OMIM47 253601
ICD10 via Orphanet26 G71.0

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

Sources:
17GeneCards, 18GeneDecks
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Diseases in the limb-girdle muscular dystrophy type 2h family:

limb-girdle muscular dystrophy limb-girdle muscular dystrophy, type 2c
limb-girdle muscular dystrophy, type 2d limb-girdle muscular dystrophy type 2e
limb-girdle muscular dystrophy, type 1a limb-girdle muscular dystrophy, type 1b
limb-girdle muscular dystrophy, type 2b limb-girdle muscular dystrophy type 2f
limb-girdle muscular dystrophy, type 2g limb-girdle muscular dystrophy type 2i
limb-girdle muscular dystrophy type 1d limb-girdle muscular dystrophy type 1e
limb-girdle muscular dystrophy type 1c limb-girdle muscular dystrophy type 2k
limb-girdle muscular dystrophy type 2j limb-girdle muscular dystrophy type 2m
limb-girdle muscular dystrophy type 2o limb-girdle muscular dystrophy type 2n
limb-girdle muscular dystrophy type 1f limb-girdle muscular dystrophy type 1g
limb-girdle muscular dystrophy type 2q limb-girdle muscular dystrophy type 1h
limb-girdle muscular dystrophy type 2l muscular dystrophy, limb-girdle, type 2r

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

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy31.4CAPN3, DYSF
2dysferlinopathy30.9DYSF
3miyoshi myopathy30.9MYOF, DYSF, CAPN3
4distal muscular dystrophy30.6DYSF, CAPN3
5calpainopathy30.2CAPN3, DYSF, SGCB
6polymyositis10.5
7dysphagia10.5
8muscular dystrophy10.0MYOF
9limb-girdle muscular dystrophy type 2h10.0DYSF, CAPN3
10limb-girdle muscular dystrophy, type 2g10.0DYSF, CAPN3
11limb-girdle muscular dystrophy, type 1a10.0CAPN3, DYSF
12muscular dystrophy-dystroglycanopathy , type c, 510.0CAPN3, DYSF
13protein s deficiency10.0DYSF, CAPN3
14myositis10.0DYSF, CAPN3
15neuromuscular disease10.0DYSF, CAPN3
16limb-girdle muscular dystrophy type 2e10.0CAPN3, DYSF, SGCB
17limb-girdle muscular dystrophy type 2f10.0SGCB, DYSF, CAPN3
18myopathy10.0CAPN3, DYSF, SGCB
19neuropathy10.0CAPN3, DYSF, SGCB

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



Diseases related to limb-girdle muscular dystrophy, type 2b

Clinical Features for Limb-Girdle Muscular Dystrophy, Type 2b

Sources:
47OMIM
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Clinical features from OMIM:

253601

Clinical synopsis from OMIM:

253601

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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

Drug clinical trials:

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

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

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

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

Sources:
20GeneTests, 22GTR
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Genetic tests related to Limb-Girdle Muscular Dystrophy, Type 2b:

id Genetic test Affiliating Genes
1 Limb-girdle Muscular Dystrophy Type 2b20
2 Limb-girdle Muscular Dystrophy, Type 2b22

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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy, Type 2b:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0SGCB, MYOF, DYSF, CAPN3

Publications for Limb-Girdle Muscular Dystrophy, Type 2b

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Limb-Girdle Muscular Dystrophy, Type 2b:

63 (show all 29)
id Symbol AA change Variation SNP ID
1DYSFp.Pro791ArgVAR_012308
2DYSFp.Ile1298ValVAR_012309rs121908954
3DYSFp.Arg2042CysVAR_012311
4DYSFp.Ala170GluVAR_024853rs34999029
5DYSFp.Arg555TrpVAR_024859
6DYSFp.Arg959TrpVAR_024860
7DYSFp.Arg1022GlnVAR_024861rs34211915
8DYSFp.Arg1038GlnVAR_024862
9DYSFp.Ile1208MetVAR_024865rs148858485
10DYSFp.Glu1335LysVAR_024868
11DYSFp.Trp52ArgVAR_057834
12DYSFp.Val67AspVAR_057835
13DYSFp.Gly155ArgVAR_057837
14DYSFp.Gly234GluVAR_057838
15DYSFp.Ile284ThrVAR_057839
16DYSFp.Gly299ArgVAR_057840
17DYSFp.Gly618ArgVAR_057851
18DYSFp.Gly621ArgVAR_057852
19DYSFp.Asp625TyrVAR_057853
20DYSFp.Pro731ArgVAR_057854
21DYSFp.Trp930CysVAR_057856
22DYSFp.Leu1228ProVAR_057860
23DYSFp.Leu1341ProVAR_057862
24DYSFp.Tyr1505CysVAR_057864
25DYSFp.Lys1526ThrVAR_057865rs76086153
26DYSFp.Gly1543AspVAR_057866
27DYSFp.Glu1734GlyVAR_057872
28DYSFp.Arg1768TrpVAR_057873
29DYSFp.Pro1970SerVAR_057880

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2b

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

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

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

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

Sources:
16Gene Ontology
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Cellular components related to Limb-Girdle Muscular Dystrophy, Type 2b according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicle membraneGO:0306599.4MYOF, DYSF
2T-tubuleGO:0303159.0DYSF, CAPN3

Biological processes related to Limb-Girdle Muscular Dystrophy, Type 2b according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membrane repairGO:0017789.1MYOF, DYSF
2muscle organ developmentGO:0075179.0SGCB, CAPN3

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

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Sources for Limb-Girdle Muscular Dystrophy, Type 2b

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet