MCID: MSC095
MIFTS: 32

Muscular Dystrophy, Limb-Girdle, Type 2r

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Metabolic 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 54 12 29 69
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 12 56 14
Lgmd2r 12 56 71
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Desmin Deficiency 12 56
Limb-Girdle Muscular Dystrophy 2r 71

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive limb-girdle muscular dystrophy type 2r
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

54
Miscellaneous:
patients become wheelchair-bound as adults
two sibs have been reported (last curated july 2013)
progressive disorder
onset between 15 and 27 years

Inheritance:
autosomal recessive


HPO:

32
muscular dystrophy, limb-girdle, type 2r:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 615325
Disease Ontology 12 DOID:0110286
ICD10 33 G71.0
Orphanet 56 ORPHA363543
ICD10 via Orphanet 34 G71.0
MeSH 42 D049288

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 autosomal recessive limb-girdle muscular dystrophy type 2r, is related to hirschsprung disease 5 and chronic atrial and intestinal dysrhythmia, and has symptoms including muscular dystrophy, elbow flexion contracture and scapular winging. 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 1b Muscular Dystrophy, Limb-Girdle, Type 2y
Muscular Dystrophy, Limb-Girdle, Type 2b Muscular Dystrophy, Limb-Girdle, Type 2w
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 2z Muscular Dystrophy, Limb-Girdle, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 2x 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
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 Recessive Limb-Girdle Muscular Dystrophy Type 2z

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

(show all 17)
id Related Disease Score Top Affiliating Genes
1 hirschsprung disease 5 9.6 HNRNPDL TRAPPC11
2 chronic atrial and intestinal dysrhythmia 9.4 HNRNPDL TNPO3
3 creatine phosphokinase, elevated serum 9.4 HNRNPDL TNPO3
4 muscular dystrophy, limb-girdle, type 1b 9.1 HNRNPDL TNPO3
5 dentinogenesis imperfecta, shields type ii 9.0 HNRNPDL TNPO3 TRAPPC11
6 epidermolysis bullosa simplex with nail dystrophy 9.0 HNRNPDL TNPO3 TRAPPC11
7 deafness, autosomal dominant 50 8.9 HNRNPDL TNPO3 TRAPPC11
8 muscular dystrophy, limb-girdle, type 2w 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
9 muscular dystrophy-dystroglycanopathy , type a, 9 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
10 muscular dystrophy-dystroglycanopathy , type b, 14 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
11 ectodermal dysplasia-syndactyly syndrome 2 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
12 muscular dystrophy-dystroglycanopathy , type c, 3 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
13 neuropathy, hereditary sensory and autonomic, type viii 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
14 alzheimer disease, type 3 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
15 spinal muscular atrophy, distal, autosomal recessive, 5 8.2 DES GMPPB HNRNPDL TNPO3 TRAPPC11
16 schizophrenia 16 8.2 DES GMPPB HNRNPDL TNPO3 TRAPPC11
17 periodontosis 8.1 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:

54

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

Chest- Ribs Sternum Clavicles And Scapulae:
scapular winging, mild

Head And Neck- Face:
facial weakness, mild

Skeletal- Limbs:
elbow contractures

Cardiovascular- Heart:
rare ventricular extrasystoles


Clinical features from OMIM:

615325

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

32
id Description HPO Frequency HPO Source Accession
1 muscular dystrophy 32 HP:0003560
2 elbow flexion contracture 32 HP:0002987
3 scapular winging 32 HP:0003691
4 facial palsy 32 HP:0010628

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

26
id 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:


id 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:

id Genetic test Affiliating Genes
1 Muscular Dystrophy, Limb-Girdle, Type 2r 29

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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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