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 54 12 24 71 29
Lgmd2w 12 24 56 71
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 12 56 14
Limb-Girdle Muscular Dystrophy Type 2w 24
Limb-Girdle Muscular Dystrophy 2w 71

Characteristics:

OMIM:

54
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
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 616827
Disease Ontology 12 DOID:0110288
Orphanet 56 ORPHA466801
MedGen 40 CN235330
MeSH 42 D049288

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 hirschsprung disease 5 and chronic atrial and intestinal dysrhythmia, and has symptoms including dilated cardiomyopathy, talipes equinovarus and tetraparesis. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2w is LIMS2 (LIM Zinc Finger Domain Containing 2). Affiliated tissues include skeletal muscle and tongue, 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 : 54
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 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 2w via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
id Related Disease Score Top Affiliating Genes
1 hirschsprung disease 5 9.7 HNRNPDL TRAPPC11
2 chronic atrial and intestinal dysrhythmia 9.5 HNRNPDL TNPO3
3 muscular dystrophy, limb-girdle, type 1b 9.3 HNRNPDL TNPO3
4 creatine phosphokinase, elevated serum 9.1 HNRNPDL TNPO3
5 dentinogenesis imperfecta, shields type ii 9.1 HNRNPDL TNPO3 TRAPPC11
6 epidermolysis bullosa simplex with nail dystrophy 9.0 HNRNPDL TNPO3 TRAPPC11
7 deafness, autosomal dominant 50 9.0 HNRNPDL TNPO3 TRAPPC11
8 spinal muscular atrophy, distal, autosomal recessive, 5 8.7 GMPPB HNRNPDL TNPO3 TRAPPC11
9 muscular dystrophy-dystroglycanopathy , type a, 9 8.7 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 schizophrenia 16 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
16 periodontosis 8.1 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:

54

Head And Neck- Mouth:
macroglossia
triangular tongue

Laboratory- Abnormalities:
increased serum creatine kinase

Skeletal- Feet:
equinovarus

Muscle Soft Tissue:
muscular dystrophy
muscle atrophy
increased connective tissue
muscle weakness begins proximally
muscle weakness of the lower and upper limbs
more
Cardiovascular- Heart:
cardiomyopathy, dilated
hypokinesis
systolic dysfunction


Clinical features from OMIM:

616827

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

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

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

id Genetic test Affiliating Genes
1 Muscular Dystrophy, Limb-Girdle, Type 2w 29
2 Limb-Girdle Muscular Dystrophy Type 2w 24 LIMS2

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

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

39
Skeletal Muscle, Tongue

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
id 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
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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