MCID: MSC095
MIFTS: 29

Muscular Dystrophy, Limb-Girdle, Type 2r

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

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

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 2r:

Name: Muscular Dystrophy, Limb-Girdle, Type 2r 53 12 28 69
Lgmd2r 53 12 55 71
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 12 55 14
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Desmin Deficiency 12 55
Limb-Girdle Muscular Dystrophy 2r 71

Characteristics:

Orphanet epidemiological data:

55
autosomal recessive limb-girdle muscular dystrophy type 2r
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset between 15 and 27 years
progressive disorder
patients become wheelchair-bound as adults
two sibs have been reported (last curated july 2013)


HPO:

31
muscular dystrophy, limb-girdle, type 2r:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 615325
Disease Ontology 12 DOID:0110286
ICD10 32 G71.0
Orphanet 55 ORPHA363543
ICD10 via Orphanet 33 G71.0
MeSH 41 D049288
UMLS 69 C3809137

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

UniProtKB/Swiss-Prot : 71 Limb-girdle muscular dystrophy 2R: A form of limb-girdle muscular dystrophy, a disease characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 2r, also known as lgmd2r, is related to muscular dystrophy-dystroglycanopathy , type c, 4 and muscular dystrophy, limb-girdle, type 1h, and has symptoms including facial palsy, scapular winging and muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2r is DES (Desmin). Related phenotype is Decreased HIV-1 infection.

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the DES gene on chromosome 2q35.

Description from OMIM: 615325

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

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z 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 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 4 9.7 HNRNPDL TRAPPC11
2 muscular dystrophy, limb-girdle, type 1h 9.6 HNRNPDL TNPO3
3 autosomal dominant limb-girdle muscular dystrophy type 1c 9.4 HNRNPDL TNPO3
4 muscular dystrophy, limb-girdle, type 1b 9.3 HNRNPDL TNPO3
5 autosomal dominant limb-girdle muscular dystrophy type 1g 9.3 HNRNPDL TNPO3 TRAPPC11
6 muscular dystrophy, limb-girdle, type 2q 9.3 HNRNPDL TNPO3 TRAPPC11
7 muscular dystrophy, limb-girdle, type 1f 9.2 HNRNPDL TNPO3 TRAPPC11
8 autosomal recessive limb-girdle muscular dystrophy type 2e 9.2 HNRNPDL TNPO3 TRAPPC11
9 muscular dystrophy, limb-girdle, type 2w 9.0 GMPPB HNRNPDL TNPO3 TRAPPC11
10 muscular dystrophy-dystroglycanopathy , type c, 9 9.0 GMPPB HNRNPDL TNPO3 TRAPPC11
11 muscular dystrophy-dystroglycanopathy , type c, 14 9.0 GMPPB HNRNPDL TNPO3 TRAPPC11
12 muscular dystrophy-dystroglycanopathy , type c, 7 8.9 GMPPB HNRNPDL TNPO3 TRAPPC11
13 muscular dystrophy-dystroglycanopathy , type c, 1 8.9 GMPPB HNRNPDL TNPO3 TRAPPC11
14 muscular dystrophy-dystroglycanopathy , type c, 3 8.9 GMPPB HNRNPDL TNPO3 TRAPPC11
15 muscular dystrophy-dystroglycanopathy , type c, 2 8.9 GMPPB HNRNPDL TNPO3 TRAPPC11
16 muscular dystrophy, limb-girdle, type 1e 8.6 DES GMPPB HNRNPDL TNPO3 TRAPPC11
17 muscular dystrophy 8.6 DES GMPPB HNRNPDL TNPO3 TRAPPC11

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type 2r:



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2r

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 2r

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Face:
facial weakness, mild

Chest RibsSternum Clavicles And Scapulae:
scapular winging, mild

Muscle Soft Tissue:
proximal muscle weakness, limb-girdle distribution
limb muscle atrophy
muscle biopsy shows dystrophic features
type 2 fiber predominance
no myofibrillar abnormalities or protein aggregation

Cardiovascular Heart:
rare ventricular extrasystoles

Skeletal Limbs:
elbow contractures


Clinical features from OMIM:

615325

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

31
# Description HPO Frequency HPO Source Accession
1 facial palsy 31 HP:0010628
2 scapular winging 31 HP:0003691
3 muscular dystrophy 31 HP:0003560
4 elbow flexion contracture 31 HP:0002987

GenomeRNAi Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2r according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HIV-1 infection GR00226-A 8.62 HNRNPDL TNPO3

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

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

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

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

# Genetic test Affiliating Genes
1 Muscular Dystrophy, Limb-Girdle, Type 2r 28 DES

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

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

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

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2r:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DES NM_001927.3(DES): c.1289-2A> G single nucleotide variant Pathogenic rs398122940 GRCh37 Chromosome 2, 220290383: 220290383
2 DES NM_001927.3(DES): c.373A> T (p.Lys125Ter) single nucleotide variant Pathogenic rs886043000 GRCh37 Chromosome 2, 220283557: 220283557

Expression for Muscular Dystrophy, Limb-Girdle, Type 2r

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

Pathways for Muscular Dystrophy, Limb-Girdle, Type 2r

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 2r

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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