LGMD3
MCID: LMB020
MIFTS: 32

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

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
Download this MalaCard

Summaries for Limb-Girdle Muscular Dystrophy, Type 2b

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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: Limb-Girdle Muscular Dystrophy, Type 2b, also known as muscular dystrophy, limb-girdle, type 2b, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including An important gene associated with Limb-Girdle Muscular Dystrophy, Type 2b is DYSF (dysferlin).

Description from OMIM:46 253601

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

About this section
Sources:
30LifeMap Discovery®, 42NIH Rare Diseases, 9diseasecard, 20GeneTests, 22GTR, 46OMIM, 62UMLS, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet
See all sources

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

Name: Limb-Girdle Muscular Dystrophy, Type 2b 30 42
Muscular Dystrophy, Limb-Girdle, Type 2b 9 20 22 46 62
Lgmd2b 42 44 48
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 48
 
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency 48
Muscular Dystrophy, Limb-Girdle, Type 3 42
Lgmd3 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

48
lgmd2b:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Normal


External Ids:

OMIM46 253601
ICD10 via Orphanet26 G71.0

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

About this section

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



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

Symptoms for Limb-Girdle Muscular Dystrophy, Type 2b

About this section

Symptoms by clinical synopsis from OMIM:

253601

Clinical features from OMIM:

253601

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

About this section

Drug clinical trials:

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

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

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

About this section

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

About this section

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

About this section

Publications for Limb-Girdle Muscular Dystrophy, Type 2b

About this section

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

(show all 11)
idTitleAuthorsYear
1
Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report. (23641709)
2013
2
Progressive dysphagia in limb-girdle muscular dystrophy type 2B. (21484829)
2011
3
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. (18495154)
2008
4
Limb-girdle muscular dystrophy type 2B mimicking polymyositis. (18392421)
2008
5
Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. (17129727)
2007
6
Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. (16934466)
2006
7
Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B. (15201514)
2004
8
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. (11134403)
2000
9
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). (11053681)
2000
10
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). (10196377)
1999
11
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. (9731527)
1998

Variations for Limb-Girdle Muscular Dystrophy, Type 2b

About this section

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

64 (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 Limb-Girdle Muscular Dystrophy, Type 2b:

6 (show all 16)
id Gene Name 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 Limb-Girdle Muscular Dystrophy, Type 2b

About this section
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Limb-Girdle Muscular Dystrophy, Type 2b

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet