LGMD2R
MCID: ATS315
MIFTS: 22

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r (LGMD2R)

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

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

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

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 12 59 15
Muscular Dystrophy, Limb-Girdle, Type 2r 12 29 6
Lgmd2r 12 59 75
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;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110286
ICD10 33 G71.0
Orphanet 59 ORPHA363543
ICD10 via Orphanet 34 G71.0
MeSH 44 D049288

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

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

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r, also known as muscular dystrophy, limb-girdle, type 2r, is related to myopathy, myofibrillar, 1 and muscular dystrophy, limb-girdle, type 1h. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r is DES (Desmin). Related phenotype is Decreased HIV-1 infection.

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 1 11.2
2 muscular dystrophy, limb-girdle, type 1h 9.8 HNRNPDL TNPO3
3 autosomal recessive limb-girdle muscular dystrophy type 2q 9.8 HNRNPDL TNPO3
4 autosomal dominant limb-girdle muscular dystrophy type 1f 9.8 HNRNPDL TNPO3
5 autosomal dominant limb-girdle muscular dystrophy type 1b 9.7 HNRNPDL TNPO3
6 limb-girdle muscular dystrophy 9.7 HNRNPDL TNPO3 TRAPPC11
7 muscular dystrophy-dystroglycanopathy , type c, 1 9.6 HNRNPDL TNPO3 TRAPPC11
8 autosomal dominant limb-girdle muscular dystrophy type 1c 9.6 HNRNPDL TNPO3
9 autosomal dominant limb-girdle muscular dystrophy type 1g 9.6 HNRNPDL TNPO3 TRAPPC11
10 muscular dystrophy-dystroglycanopathy , type c, 3 9.6 HNRNPDL TNPO3 TRAPPC11
11 muscular dystrophy-dystroglycanopathy , type c, 2 9.6 HNRNPDL TNPO3 TRAPPC11
12 autosomal recessive limb-girdle muscular dystrophy type 2w 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
13 muscular dystrophy-dystroglycanopathy , type c, 9 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
14 muscular dystrophy-dystroglycanopathy , type c, 14 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
15 muscular dystrophy-dystroglycanopathy , type c, 7 9.4 GMPPB HNRNPDL TNPO3 TRAPPC11
16 muscular dystrophy 9.3 DES GMPPB HNRNPDL TNPO3 TRAPPC11
17 muscular dystrophy, limb-girdle, autosomal dominant 1 9.3 DES GMPPB HNRNPDL TNPO3 TRAPPC11

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



Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

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

GenomeRNAi Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy 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 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

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

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

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

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

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

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

6 (show top 50) (show all 262)
# Gene Variation Type Significance SNP ID Assembly Location
1 DES NM_001927.3(DES): c.1353C> G (p.Ile451Met) single nucleotide variant Uncertain significance rs121913002 GRCh37 Chromosome 2, 220290449: 220290449
2 DES NM_001927.3(DES): c.1353C> G (p.Ile451Met) single nucleotide variant Uncertain significance rs121913002 GRCh38 Chromosome 2, 219425727: 219425727
3 DES NM_001927.3(DES): c.1216C> T (p.Arg406Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121913003 GRCh37 Chromosome 2, 220286254: 220286254
4 DES NM_001927.3(DES): c.1216C> T (p.Arg406Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121913003 GRCh38 Chromosome 2, 219421532: 219421532
5 DES NM_001927.3(DES): c.1049G> C (p.Arg350Pro) single nucleotide variant Pathogenic rs57965306 GRCh37 Chromosome 2, 220286087: 220286087
6 DES NM_001927.3(DES): c.1049G> C (p.Arg350Pro) single nucleotide variant Pathogenic rs57965306 GRCh38 Chromosome 2, 219421365: 219421365
7 DES NM_001927.3(DES): c.669T> C (p.Ile223=) single nucleotide variant Benign rs75882680 GRCh37 Chromosome 2, 220285002: 220285002
8 DES NM_001927.3(DES): c.669T> C (p.Ile223=) single nucleotide variant Benign rs75882680 GRCh38 Chromosome 2, 219420280: 219420280
9 DES NM_001927.3(DES): c.1026C> T (p.Asn342=) single nucleotide variant Benign/Likely benign rs61731508 GRCh37 Chromosome 2, 220286064: 220286064
10 DES NM_001927.3(DES): c.1026C> T (p.Asn342=) single nucleotide variant Benign/Likely benign rs61731508 GRCh38 Chromosome 2, 219421342: 219421342
11 DES NM_001927.3(DES): c.114G> A (p.Ala38=) single nucleotide variant Benign rs368901105 GRCh37 Chromosome 2, 220283298: 220283298
12 DES NM_001927.3(DES): c.114G> A (p.Ala38=) single nucleotide variant Benign rs368901105 GRCh38 Chromosome 2, 219418576: 219418576
13 DES NM_001927.3(DES): c.1375G> A (p.Val459Ile) single nucleotide variant Benign/Likely benign rs73991549 GRCh37 Chromosome 2, 220290674: 220290674
14 DES NM_001927.3(DES): c.1375G> A (p.Val459Ile) single nucleotide variant Benign/Likely benign rs73991549 GRCh38 Chromosome 2, 219425952: 219425952
15 DES NM_001927.3(DES): c.1404A> G (p.Glu468=) single nucleotide variant Conflicting interpretations of pathogenicity rs397516691 GRCh37 Chromosome 2, 220290703: 220290703
16 DES NM_001927.3(DES): c.1404A> G (p.Glu468=) single nucleotide variant Conflicting interpretations of pathogenicity rs397516691 GRCh38 Chromosome 2, 219425981: 219425981
17 DES NM_001927.3(DES): c.170C> T (p.Ser57Leu) single nucleotide variant Uncertain significance rs372825868 GRCh37 Chromosome 2, 220283354: 220283354
18 DES NM_001927.3(DES): c.170C> T (p.Ser57Leu) single nucleotide variant Uncertain significance rs372825868 GRCh38 Chromosome 2, 219418632: 219418632
19 DES NM_001927.3(DES): c.18G> A (p.Ser6=) single nucleotide variant Conflicting interpretations of pathogenicity rs199972656 GRCh37 Chromosome 2, 220283202: 220283202
20 DES NM_001927.3(DES): c.18G> A (p.Ser6=) single nucleotide variant Conflicting interpretations of pathogenicity rs199972656 GRCh38 Chromosome 2, 219418480: 219418480
21 DES NM_001927.3(DES): c.193G> A (p.Gly65Ser) single nucleotide variant Uncertain significance rs397516692 GRCh37 Chromosome 2, 220283377: 220283377
22 DES NM_001927.3(DES): c.193G> A (p.Gly65Ser) single nucleotide variant Uncertain significance rs397516692 GRCh38 Chromosome 2, 219418655: 219418655
23 DES NM_001927.3(DES): c.372G> A (p.Glu124=) single nucleotide variant Benign rs34365369 GRCh37 Chromosome 2, 220283556: 220283556
24 DES NM_001927.3(DES): c.372G> A (p.Glu124=) single nucleotide variant Benign rs34365369 GRCh38 Chromosome 2, 219418834: 219418834
25 DES NM_001927.3(DES): c.380G> C (p.Arg127Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516694 GRCh37 Chromosome 2, 220283564: 220283564
26 DES NM_001927.3(DES): c.380G> C (p.Arg127Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516694 GRCh38 Chromosome 2, 219418842: 219418842
27 DES NM_001927.3(DES): c.407T> A (p.Leu136His) single nucleotide variant Uncertain significance rs397516695 GRCh37 Chromosome 2, 220283591: 220283591
28 DES NM_001927.3(DES): c.407T> A (p.Leu136His) single nucleotide variant Uncertain significance rs397516695 GRCh38 Chromosome 2, 219418869: 219418869
29 DES NM_001927.3(DES): c.408C> T (p.Leu136=) single nucleotide variant Benign rs111828114 GRCh37 Chromosome 2, 220283592: 220283592
30 DES NM_001927.3(DES): c.408C> T (p.Leu136=) single nucleotide variant Benign rs111828114 GRCh38 Chromosome 2, 219418870: 219418870
31 DES NM_001927.3(DES): c.638C> T (p.Ala213Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41272699 GRCh37 Chromosome 2, 220284876: 220284876
32 DES NM_001927.3(DES): c.638C> T (p.Ala213Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41272699 GRCh38 Chromosome 2, 219420154: 219420154
33 DES NM_001927.3(DES): c.785A> T (p.Glu262Val) single nucleotide variant Uncertain significance rs147327878 GRCh37 Chromosome 2, 220285266: 220285266
34 DES NM_001927.3(DES): c.785A> T (p.Glu262Val) single nucleotide variant Uncertain significance rs147327878 GRCh38 Chromosome 2, 219420544: 219420544
35 DES NM_001927.3(DES): c.792C> T (p.Asp264=) single nucleotide variant Benign/Likely benign rs150370918 GRCh37 Chromosome 2, 220285273: 220285273
36 DES NM_001927.3(DES): c.792C> T (p.Asp264=) single nucleotide variant Benign/Likely benign rs150370918 GRCh38 Chromosome 2, 219420551: 219420551
37 DES NM_001927.3(DES): c.897+4_897+5delGG deletion Benign/Likely benign rs397516699 GRCh37 Chromosome 2, 220285382: 220285383
38 DES NM_001927.3(DES): c.897+4_897+5delGG deletion Benign/Likely benign rs397516699 GRCh38 Chromosome 2, 219420660: 219420661
39 DES NM_001927.3(DES): c.934G> A (p.Asp312Asn) single nucleotide variant Uncertain significance rs34337334 GRCh37 Chromosome 2, 220285586: 220285586
40 DES NM_001927.3(DES): c.934G> A (p.Asp312Asn) single nucleotide variant Uncertain significance rs34337334 GRCh38 Chromosome 2, 219420864: 219420864
41 DES NM_001927.3(DES): c.935A> C (p.Asp312Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148947510 GRCh37 Chromosome 2, 220285587: 220285587
42 DES NM_001927.3(DES): c.935A> C (p.Asp312Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148947510 GRCh38 Chromosome 2, 219420865: 219420865
43 DES NM_001927.3(DES): c.1237G> A (p.Glu413Lys) single nucleotide variant Likely pathogenic rs61726467 GRCh37 Chromosome 2, 220286275: 220286275
44 DES NM_001927.3(DES): c.1237G> A (p.Glu413Lys) single nucleotide variant Likely pathogenic rs61726467 GRCh38 Chromosome 2, 219421553: 219421553
45 DES NM_001927.3(DES): c.1360C> T (p.Arg454Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607490 GRCh37 Chromosome 2, 220290456: 220290456
46 DES NM_001927.3(DES): c.1360C> T (p.Arg454Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607490 GRCh38 Chromosome 2, 219425734: 219425734
47 DES NM_001927.3(DES): c.893C> T (p.Ser298Leu) single nucleotide variant Uncertain significance rs62636491 GRCh37 Chromosome 2, 220285374: 220285374
48 DES NM_001927.3(DES): c.893C> T (p.Ser298Leu) single nucleotide variant Uncertain significance rs62636491 GRCh38 Chromosome 2, 219420652: 219420652
49 DES NM_001927.3(DES): c.893C> T (p.Ser298Leu) single nucleotide variant Uncertain significance rs62636491 NCBI36 Chromosome 2, 219993618: 219993618
50 DES NM_001927.3(DES): c.324G> A (p.Glu108=) single nucleotide variant Benign/Likely benign rs138677215 GRCh37 Chromosome 2, 220283508: 220283508

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

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

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

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