MCID: MSC095
MIFTS: 29

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 57 12 29 6 73
Lgmd2r 57 12 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 12 59 15
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Desmin Deficiency 12 59
Dystrophy, Muscular, Limb-Girdle, Type 2r 40
Limb-Girdle Muscular Dystrophy 2r 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2r
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
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:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 615325
Disease Ontology 12 DOID:0110286
ICD10 33 G71.0
Orphanet 59 ORPHA363543
ICD10 via Orphanet 34 G71.0
MeSH 44 D049288
UMLS 73 C3809137

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

UniProtKB/Swiss-Prot : 75 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 autosomal recessive limb-girdle muscular dystrophy type 2e. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2r is DES (Desmin). Related phenotypes are facial palsy and scapular winging

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 18)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 4 9.6 HNRNPDL TRAPPC11
2 autosomal recessive limb-girdle muscular dystrophy type 2e 9.5 HNRNPDL TRAPPC11
3 muscular dystrophy, limb-girdle, type 1h 9.4 HNRNPDL TNPO3
4 autosomal dominant limb-girdle muscular dystrophy type 1c 9.3 HNRNPDL TNPO3
5 autosomal dominant limb-girdle muscular dystrophy type 1g 8.9 HNRNPDL TNPO3 TRAPPC11
6 muscular dystrophy, limb-girdle, type 1b 8.9 HNRNPDL TNPO3
7 muscular dystrophy, limb-girdle, type 2q 8.8 HNRNPDL TNPO3 TRAPPC11
8 muscular dystrophy, limb-girdle, type 1f 8.8 HNRNPDL TNPO3 TRAPPC11
9 limb-girdle muscular dystrophy 8.7 HNRNPDL TNPO3 TRAPPC11
10 muscular dystrophy-dystroglycanopathy , type c, 9 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
11 muscular dystrophy, limb-girdle, type 2w 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
12 muscular dystrophy-dystroglycanopathy , type c, 14 8.3 GMPPB HNRNPDL TNPO3 TRAPPC11
13 muscular dystrophy-dystroglycanopathy , type c, 7 8.3 GMPPB HNRNPDL TNPO3 TRAPPC11
14 muscular dystrophy-dystroglycanopathy , type c, 3 8.3 GMPPB HNRNPDL TNPO3 TRAPPC11
15 muscular dystrophy-dystroglycanopathy , type c, 1 8.3 GMPPB HNRNPDL TNPO3 TRAPPC11
16 muscular dystrophy-dystroglycanopathy , type c, 2 8.3 GMPPB HNRNPDL TNPO3 TRAPPC11
17 muscular dystrophy, limb-girdle, type 1e 7.8 DES GMPPB HNRNPDL TNPO3 TRAPPC11
18 muscular dystrophy 7.7 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:

57
Head And Neck Face:
facial weakness, mild

Chest Ribs Sternum 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:

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

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

26
# 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 29 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
(show top 50) (show all 158)
# Gene Variation Type Significance SNP ID Assembly Location
1 DES NM_001927.3(DES): c.1216C> T (p.Arg406Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121913003 GRCh37 Chromosome 2, 220286254: 220286254
2 DES NM_001927.3(DES): c.1216C> T (p.Arg406Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121913003 GRCh38 Chromosome 2, 219421532: 219421532
3 DES NM_001927.3(DES): c.1049G> C (p.Arg350Pro) single nucleotide variant Pathogenic rs57965306 GRCh37 Chromosome 2, 220286087: 220286087
4 DES NM_001927.3(DES): c.1049G> C (p.Arg350Pro) single nucleotide variant Pathogenic rs57965306 GRCh38 Chromosome 2, 219421365: 219421365
5 DES NM_001927.3(DES): c.1289-2A> G single nucleotide variant Pathogenic rs398122940 GRCh37 Chromosome 2, 220290383: 220290383
6 DES NM_001927.3(DES): c.1289-2A> G single nucleotide variant Pathogenic rs398122940 GRCh38 Chromosome 2, 219425661: 219425661
7 DES NM_001927.3(DES): c.243C> T (p.Ser81=) single nucleotide variant Benign/Likely benign rs201594392 GRCh37 Chromosome 2, 220283427: 220283427
8 DES NM_001927.3(DES): c.243C> T (p.Ser81=) single nucleotide variant Benign/Likely benign rs201594392 GRCh38 Chromosome 2, 219418705: 219418705
9 DES NM_001927.3(DES): c.665G> A (p.Arg222His) single nucleotide variant Conflicting interpretations of pathogenicity rs367961979 GRCh37 Chromosome 2, 220284998: 220284998
10 DES NM_001927.3(DES): c.665G> A (p.Arg222His) single nucleotide variant Conflicting interpretations of pathogenicity rs367961979 GRCh38 Chromosome 2, 219420276: 219420276
11 DES NM_001927.3(DES): c.250G> A (p.Gly84Ser) single nucleotide variant Uncertain significance rs200545412 GRCh37 Chromosome 2, 220283434: 220283434
12 DES NM_001927.3(DES): c.250G> A (p.Gly84Ser) single nucleotide variant Uncertain significance rs200545412 GRCh38 Chromosome 2, 219418712: 219418712
13 DES NM_001927.3(DES): c.635G> A (p.Arg212Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs144261171 GRCh37 Chromosome 2, 220284873: 220284873
14 DES NM_001927.3(DES): c.635G> A (p.Arg212Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs144261171 GRCh38 Chromosome 2, 219420151: 219420151
15 DES NM_001927.3(DES): c.216C> A (p.Ser72Arg) single nucleotide variant Uncertain significance rs375719734 GRCh37 Chromosome 2, 220283400: 220283400
16 DES NM_001927.3(DES): c.216C> A (p.Ser72Arg) single nucleotide variant Uncertain significance rs375719734 GRCh38 Chromosome 2, 219418678: 219418678
17 DES NM_001927.3(DES): c.154C> A (p.Arg52Ser) single nucleotide variant Uncertain significance rs794728990 GRCh37 Chromosome 2, 220283338: 220283338
18 DES NM_001927.3(DES): c.154C> A (p.Arg52Ser) single nucleotide variant Uncertain significance rs794728990 GRCh38 Chromosome 2, 219418616: 219418616
19 DES NM_001927.3(DES): c.166G> C (p.Val56Leu) single nucleotide variant Uncertain significance rs578066781 GRCh37 Chromosome 2, 220283350: 220283350
20 DES NM_001927.3(DES): c.166G> C (p.Val56Leu) single nucleotide variant Uncertain significance rs578066781 GRCh38 Chromosome 2, 219418628: 219418628
21 DES NM_001927.3(DES): c.727C> T (p.His243Tyr) single nucleotide variant Uncertain significance rs769647148 GRCh37 Chromosome 2, 220285060: 220285060
22 DES NM_001927.3(DES): c.727C> T (p.His243Tyr) single nucleotide variant Uncertain significance rs769647148 GRCh38 Chromosome 2, 219420338: 219420338
23 DES NM_001927.3(DES): c.976C> T (p.His326Tyr) single nucleotide variant Uncertain significance rs794728987 GRCh37 Chromosome 2, 220285628: 220285628
24 DES NM_001927.3(DES): c.976C> T (p.His326Tyr) single nucleotide variant Uncertain significance rs794728987 GRCh38 Chromosome 2, 219420906: 219420906
25 DES NM_001927.3(DES): c.1027G> A (p.Asp343Asn) single nucleotide variant Uncertain significance rs763903197 GRCh37 Chromosome 2, 220286065: 220286065
26 DES NM_001927.3(DES): c.1027G> A (p.Asp343Asn) single nucleotide variant Uncertain significance rs763903197 GRCh38 Chromosome 2, 219421343: 219421343
27 DES NM_001927.3(DES): c.1123C> T (p.Arg375Trp) single nucleotide variant Uncertain significance rs375218723 GRCh37 Chromosome 2, 220286161: 220286161
28 DES NM_001927.3(DES): c.1123C> T (p.Arg375Trp) single nucleotide variant Uncertain significance rs375218723 GRCh38 Chromosome 2, 219421439: 219421439
29 DES NM_001927.3(DES): c.1243C> T (p.Arg415Trp) single nucleotide variant Uncertain significance rs751942358 GRCh37 Chromosome 2, 220286281: 220286281
30 DES NM_001927.3(DES): c.1243C> T (p.Arg415Trp) single nucleotide variant Uncertain significance rs751942358 GRCh38 Chromosome 2, 219421559: 219421559
31 DES NM_001927.3(DES): c.643G> A (p.Val215Met) single nucleotide variant Uncertain significance rs144908941 GRCh37 Chromosome 2, 220284976: 220284976
32 DES NM_001927.3(DES): c.643G> A (p.Val215Met) single nucleotide variant Uncertain significance rs144908941 GRCh38 Chromosome 2, 219420254: 219420254
33 DES NM_001927.3(DES): c.99C> T (p.Pro33=) single nucleotide variant Benign/Likely benign rs774006810 GRCh37 Chromosome 2, 220283283: 220283283
34 DES NM_001927.3(DES): c.99C> T (p.Pro33=) single nucleotide variant Benign/Likely benign rs774006810 GRCh38 Chromosome 2, 219418561: 219418561
35 DES NM_001927.3(DES): c.347A> T (p.Asn116Ile) single nucleotide variant Uncertain significance rs267607499 GRCh38 Chromosome 2, 219418809: 219418809
36 DES NM_001927.3(DES): c.347A> T (p.Asn116Ile) single nucleotide variant Uncertain significance rs267607499 GRCh37 Chromosome 2, 220283531: 220283531
37 DES NM_001927.3(DES): c.404C> T (p.Ala135Val) single nucleotide variant Conflicting interpretations of pathogenicity rs546741834 GRCh38 Chromosome 2, 219418866: 219418866
38 DES NM_001927.3(DES): c.404C> T (p.Ala135Val) single nucleotide variant Conflicting interpretations of pathogenicity rs546741834 GRCh37 Chromosome 2, 220283588: 220283588
39 DES NM_001927.3(DES): c.639+13_639+15delCTT deletion Likely benign rs876657448 GRCh38 Chromosome 2, 219420168: 219420170
40 DES NM_001927.3(DES): c.639+13_639+15delCTT deletion Likely benign rs876657448 GRCh37 Chromosome 2, 220284890: 220284892
41 DES NM_001927.3(DES): c.656C> T (p.Thr219Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs144901249 GRCh37 Chromosome 2, 220284989: 220284989
42 DES NM_001927.3(DES): c.656C> T (p.Thr219Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs144901249 GRCh38 Chromosome 2, 219420267: 219420267
43 DES NM_001927.3(DES): c.894G> A (p.Ser298=) single nucleotide variant Likely benign rs747073500 GRCh38 Chromosome 2, 219420653: 219420653
44 DES NM_001927.3(DES): c.894G> A (p.Ser298=) single nucleotide variant Likely benign rs747073500 GRCh37 Chromosome 2, 220285375: 220285375
45 DES NM_001927.3(DES): c.1353C> T (p.Ile451=) single nucleotide variant Conflicting interpretations of pathogenicity rs121913002 GRCh37 Chromosome 2, 220290449: 220290449
46 DES NM_001927.3(DES): c.1353C> T (p.Ile451=) single nucleotide variant Conflicting interpretations of pathogenicity rs121913002 GRCh38 Chromosome 2, 219425727: 219425727
47 DES NM_001927.3(DES): c.218G> T (p.Arg73Leu) single nucleotide variant Uncertain significance rs752518966 GRCh37 Chromosome 2, 220283402: 220283402
48 DES NM_001927.3(DES): c.218G> T (p.Arg73Leu) single nucleotide variant Uncertain significance rs752518966 GRCh38 Chromosome 2, 219418680: 219418680
49 DES NM_001927.3(DES): c.410C> A (p.Ala137Asp) single nucleotide variant Uncertain significance rs775115627 GRCh37 Chromosome 2, 220283594: 220283594
50 DES NM_001927.3(DES): c.410C> A (p.Ala137Asp) single nucleotide variant Uncertain significance rs775115627 GRCh38 Chromosome 2, 219418872: 219418872

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

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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

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