MCID: MSC136
MIFTS: 31

Muscular Dystrophy, Limb-Girdle, Type 2w

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Muscle diseases, Neuronal 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 53 12 71 28
Lgmd2w 53 12 55 71
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 12 55 14
Limb-Girdle Muscular Dystrophy 2w 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

Orphanet: 55  
Rare neurological diseases


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

UniProtKB/Swiss-Prot : 71 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 muscular dystrophy, limb-girdle, type 1h, and has symptoms including elevated serum creatine phosphokinase, skeletal muscle atrophy and talipes equinovarus. 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 phenotype is Decreased HIV-1 infection.

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 : 53 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 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-dystroglycanopathy , type c, 9 9.0 GMPPB HNRNPDL TNPO3 TRAPPC11
10 muscular dystrophy, limb-girdle, type 2r 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 9.0 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 8.9 GMPPB HNRNPDL TNPO3 TRAPPC11
17 muscular dystrophy 8.6 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:

53
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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 31 HP:0003236
2 skeletal muscle atrophy 31 HP:0003202
3 talipes equinovarus 31 HP:0001762
4 muscular dystrophy 31 HP:0003560
5 increased connective tissue 31 HP:0009025
6 dilated cardiomyopathy 31 HP:0001644
7 tetraparesis 31 HP:0002273
8 calf muscle hypertrophy 31 HP:0008981
9 triangular tongue 31 HP:0030284
10 reduced systolic function 31 HP:0006673

GenomeRNAi Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2w 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 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 28 LIMS2

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

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

38
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
# Gene Variation Type Significance SNP ID Assembly Location
1 LIMS2 NM_001161404.1(LIMS2): c.953T> C (p.Leu318Pro) single nucleotide variant Pathogenic rs869025562 GRCh38 Chromosome 2, 127639339: 127639339

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
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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