MCID: MSC136
MIFTS: 30

Muscular Dystrophy, Limb-Girdle, Type 2w

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2w 57 12 75 29 6
Lgmd2w 57 12 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 12 59 15
Limb-Girdle Muscular Dystrophy 2w 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
progressive
two adult sibs have been reported (last curated february 2016)


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


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

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2W: A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD2W is characterized by childhood-onset of weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 2w, also known as lgmd2w, 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 2w is LIMS2 (LIM Zinc Finger Domain Containing 2). Affiliated tissues include tongue and skeletal muscle, and related phenotypes are dilated cardiomyopathy and talipes equinovarus

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in compound heterozygous mutation in the LIMS2 gene on chromosome 2q14.

OMIM : 57 Limb-girdle muscular dystrophy type 2W is an autosomal recessive muscle disorder characterized by onset of severe and progressive muscle weakness and atrophy in childhood, resulting in loss of independent ambulation. Patients may also develop dilated cardiomyopathy (summary by Warman Chardon et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy (LGMD), see LGMD2A (253600). (616827)

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

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 2w 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 2r 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
12 muscular dystrophy-dystroglycanopathy , type c, 14 8.4 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 8.3 GMPPB HNRNPDL TNPO3 TRAPPC11
18 muscular dystrophy 7.7 GMPPB HNRNPDL LIMS2 TNPO3 TRAPPC11

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



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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
macroglossia
triangular tongue

Laboratory Abnormalities:
increased serum creatine kinase

Cardiovascular Heart:
cardiomyopathy, dilated
systolic dysfunction
hypokinesis

Muscle Soft Tissue:
muscular dystrophy
increased connective tissue
muscle atrophy
loss of ambulation
variation in fiber size seen on muscle biopsy
more
Skeletal Feet:
equinovarus


Clinical features from OMIM:

616827

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644
2 talipes equinovarus 32 HP:0001762
3 tetraparesis 32 HP:0002273
4 skeletal muscle atrophy 32 HP:0003202
5 elevated serum creatine phosphokinase 32 HP:0003236
6 muscular dystrophy 32 HP:0003560
7 reduced systolic function 32 HP:0006673
8 calf muscle hypertrophy 32 HP:0008981
9 increased connective tissue 32 HP:0009025
10 triangular tongue 32 HP:0030284

GenomeRNAi Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2w 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 2w

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

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

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

# Genetic test Affiliating Genes
1 Muscular Dystrophy, Limb-Girdle, Type 2w 29 LIMS2

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

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 2w:

41
Tongue, Skeletal Muscle

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

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

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

6
(show top 50) (show all 57)
# Gene Variation Type Significance SNP ID Assembly Location
1 LIMS2 NM_001161404.1(LIMS2): c.261C> G (p.Asn87Lys) single nucleotide variant no interpretation for the single variant rs754385302 GRCh38 Chromosome 2, 127654507: 127654507
2 LIMS2 NM_001161404.1(LIMS2): c.261C> G (p.Asn87Lys) single nucleotide variant no interpretation for the single variant rs754385302 GRCh37 Chromosome 2, 128412081: 128412081
3 LIMS2 NM_017980.4(LIMS2): c.362C> T (p.Pro121Leu) single nucleotide variant Uncertain significance rs768056213 GRCh38 Chromosome 2, 127654493: 127654493
4 LIMS2 NM_017980.4(LIMS2): c.362C> T (p.Pro121Leu) single nucleotide variant Uncertain significance rs768056213 GRCh37 Chromosome 2, 128412067: 128412067
5 LIMS2 NM_001161404.1(LIMS2): c.953T> C (p.Leu318Pro) single nucleotide variant Pathogenic rs869025562 GRCh38 Chromosome 2, 127639339: 127639339
6 LIMS2 NM_001161404.1(LIMS2): c.953T> C (p.Leu318Pro) single nucleotide variant Pathogenic rs869025562 GRCh37 Chromosome 2, 128396914: 128396914
7 LIMS2 NM_017980.4(LIMS2): c.875-8C> G single nucleotide variant Benign rs115961120 GRCh38 Chromosome 2, 127640153: 127640153
8 LIMS2 NM_017980.4(LIMS2): c.875-8C> G single nucleotide variant Benign rs115961120 GRCh37 Chromosome 2, 128397728: 128397728
9 LIMS2 NM_017980.4(LIMS2): c.457C> T (p.Arg153Cys) single nucleotide variant Benign rs145123078 GRCh38 Chromosome 2, 127643047: 127643047
10 LIMS2 NM_017980.4(LIMS2): c.457C> T (p.Arg153Cys) single nucleotide variant Benign rs145123078 GRCh37 Chromosome 2, 128400622: 128400622
11 LIMS2 NM_017980.4(LIMS2): c.261C> T (p.Tyr87=) single nucleotide variant Benign rs35765118 GRCh38 Chromosome 2, 127654879: 127654879
12 LIMS2 NM_017980.4(LIMS2): c.261C> T (p.Tyr87=) single nucleotide variant Benign rs35765118 GRCh37 Chromosome 2, 128412453: 128412453
13 LIMS2 NM_017980.4(LIMS2): c.108C> T (p.Asn36=) single nucleotide variant Likely benign rs150714487 GRCh38 Chromosome 2, 127657538: 127657538
14 LIMS2 NM_017980.4(LIMS2): c.108C> T (p.Asn36=) single nucleotide variant Likely benign rs150714487 GRCh37 Chromosome 2, 128415112: 128415112
15 LIMS2 NC_000002.11: g.(?_128396836)_(128432618_?)dup duplication Uncertain significance GRCh37 Chromosome 2, 128396836: 128432618
16 LIMS2 NM_001161404.1(LIMS2): c.943_954dup (p.Leu318_Ser319insLeuLysLysLeu) duplication Uncertain significance GRCh38 Chromosome 2, 127639338: 127639349
17 LIMS2 NM_001161404.1(LIMS2): c.943_954dup (p.Leu318_Ser319insLeuLysLysLeu) duplication Uncertain significance GRCh37 Chromosome 2, 128396913: 128396924
18 LIMS2 NM_017980.4(LIMS2): c.865G> A (p.Glu289Lys) single nucleotide variant Uncertain significance rs199761833 GRCh37 Chromosome 2, 128397854: 128397854
19 LIMS2 NM_017980.4(LIMS2): c.865G> A (p.Glu289Lys) single nucleotide variant Uncertain significance rs199761833 GRCh38 Chromosome 2, 127640279: 127640279
20 LIMS2 NM_017980.4(LIMS2): c.666C> T (p.Cys222=) single nucleotide variant Benign rs74638847 GRCh38 Chromosome 2, 127642115: 127642115
21 LIMS2 NM_017980.4(LIMS2): c.666C> T (p.Cys222=) single nucleotide variant Benign rs74638847 GRCh37 Chromosome 2, 128399690: 128399690
22 LIMS2 NM_017980.4(LIMS2): c.111C> T (p.Ala37=) single nucleotide variant Benign rs143117627 GRCh37 Chromosome 2, 128415109: 128415109
23 LIMS2 NM_017980.4(LIMS2): c.111C> T (p.Ala37=) single nucleotide variant Benign rs143117627 GRCh38 Chromosome 2, 127657535: 127657535
24 LIMS2 NM_017980.4(LIMS2): c.700G> A (p.Val234Ile) single nucleotide variant Uncertain significance rs575987494 GRCh38 Chromosome 2, 127642081: 127642081
25 LIMS2 NM_017980.4(LIMS2): c.700G> A (p.Val234Ile) single nucleotide variant Uncertain significance rs575987494 GRCh37 Chromosome 2, 128399656: 128399656
26 LIMS2 NM_017980.4(LIMS2): c.361C> T (p.Pro121Ser) single nucleotide variant Uncertain significance rs368536679 GRCh37 Chromosome 2, 128412068: 128412068
27 LIMS2 NM_017980.4(LIMS2): c.361C> T (p.Pro121Ser) single nucleotide variant Uncertain significance rs368536679 GRCh38 Chromosome 2, 127654494: 127654494
28 LIMS2 NM_017980.4(LIMS2): c.225C> T (p.Pro75=) single nucleotide variant Likely benign rs144872986 GRCh37 Chromosome 2, 128414995: 128414995
29 LIMS2 NM_017980.4(LIMS2): c.225C> T (p.Pro75=) single nucleotide variant Likely benign rs144872986 GRCh38 Chromosome 2, 127657421: 127657421
30 LIMS2 NM_017980.4(LIMS2): c.837C> T (p.Asp279=) single nucleotide variant Benign rs199994172 GRCh38 Chromosome 2, 127640307: 127640307
31 LIMS2 NM_017980.4(LIMS2): c.837C> T (p.Asp279=) single nucleotide variant Benign rs199994172 GRCh37 Chromosome 2, 128397882: 128397882
32 LIMS2 NM_017980.4(LIMS2): c.981C> T (p.Pro327=) single nucleotide variant Likely benign rs374378217 GRCh38 Chromosome 2, 127639398: 127639398
33 LIMS2 NM_017980.4(LIMS2): c.981C> T (p.Pro327=) single nucleotide variant Likely benign rs374378217 GRCh37 Chromosome 2, 128396973: 128396973
34 LIMS2 NM_017980.4(LIMS2): c.363G> A (p.Pro121=) single nucleotide variant Benign rs11900522 GRCh38 Chromosome 2, 127654492: 127654492
35 LIMS2 NM_017980.4(LIMS2): c.363G> A (p.Pro121=) single nucleotide variant Benign rs11900522 GRCh37 Chromosome 2, 128412066: 128412066
36 LIMS2 NM_017980.4(LIMS2): c.1011G> A (p.Pro337=) single nucleotide variant Likely benign rs773583305 GRCh38 Chromosome 2, 127639368: 127639368
37 LIMS2 NM_017980.4(LIMS2): c.1011G> A (p.Pro337=) single nucleotide variant Likely benign rs773583305 GRCh37 Chromosome 2, 128396943: 128396943
38 LIMS2 NM_017980.4(LIMS2): c.72G> A (p.Pro24=) single nucleotide variant Likely benign rs529824211 GRCh38 Chromosome 2, 127664317: 127664317
39 LIMS2 NM_017980.4(LIMS2): c.72G> A (p.Pro24=) single nucleotide variant Likely benign rs529824211 GRCh37 Chromosome 2, 128421891: 128421891
40 LIMS2 NM_017980.4(LIMS2): c.882G> A (p.Ser294=) single nucleotide variant Likely benign rs752693744 GRCh38 Chromosome 2, 127640138: 127640138
41 LIMS2 NM_017980.4(LIMS2): c.882G> A (p.Ser294=) single nucleotide variant Likely benign rs752693744 GRCh37 Chromosome 2, 128397713: 128397713
42 LIMS2 NM_017980.4(LIMS2): c.598G> A (p.Glu200Lys) single nucleotide variant Uncertain significance rs759040020 GRCh38 Chromosome 2, 127642183: 127642183
43 LIMS2 NM_017980.4(LIMS2): c.598G> A (p.Glu200Lys) single nucleotide variant Uncertain significance rs759040020 GRCh37 Chromosome 2, 128399758: 128399758
44 LIMS2 NM_017980.4(LIMS2): c.954C> A (p.Asn318Lys) single nucleotide variant Uncertain significance rs149101001 GRCh38 Chromosome 2, 127639425: 127639425
45 LIMS2 NM_017980.4(LIMS2): c.954C> A (p.Asn318Lys) single nucleotide variant Uncertain significance rs149101001 GRCh37 Chromosome 2, 128397000: 128397000
46 LIMS2 NM_017980.4(LIMS2): c.826-10C> T single nucleotide variant Likely benign rs377539811 GRCh38 Chromosome 2, 127640328: 127640328
47 LIMS2 NM_017980.4(LIMS2): c.826-10C> T single nucleotide variant Likely benign rs377539811 GRCh37 Chromosome 2, 128397903: 128397903
48 LIMS2 NM_017980.4(LIMS2): c.824A> G (p.Gln275Arg) single nucleotide variant Uncertain significance rs146422285 GRCh38 Chromosome 2, 127640897: 127640897
49 LIMS2 NM_017980.4(LIMS2): c.824A> G (p.Gln275Arg) single nucleotide variant Uncertain significance rs146422285 GRCh37 Chromosome 2, 128398472: 128398472
50 LIMS2 NM_017980.4(LIMS2): c.972C> T (p.Asp324=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 127639407: 127639407

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....