MCID: ATS332
MIFTS: 21

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w

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

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

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

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 12 15
Muscular Dystrophy, Limb-Girdle, Type 2w 12
Lgmd2w 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110288

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

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.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w, also known as muscular dystrophy, limb-girdle, type 2w, is related to muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue and muscular dystrophy, limb-girdle, type 1h. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w is TRAPPC11 (Trafficking Protein Particle Complex 11). Affiliated tissues include brain, eye and tongue, and related phenotype is Decreased HIV-1 infection.

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

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 2w via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue 11.6
2 muscular dystrophy, limb-girdle, type 1h 9.9 HNRNPDL TNPO3
3 autosomal recessive limb-girdle muscular dystrophy type 2q 9.9 HNRNPDL TNPO3
4 autosomal dominant limb-girdle muscular dystrophy type 1f 9.9 HNRNPDL TNPO3
5 muscular dystrophy-dystroglycanopathy 9.9 GMPPB ISPD
6 autosomal dominant limb-girdle muscular dystrophy type 1b 9.9 HNRNPDL TNPO3
7 autosomal dominant limb-girdle muscular dystrophy type 1c 9.9 HNRNPDL TNPO3
8 limb-girdle muscular dystrophy 9.8 HNRNPDL TNPO3 TRAPPC11
9 muscular dystrophy-dystroglycanopathy , type c, 1 9.8 HNRNPDL TNPO3 TRAPPC11
10 bethlem myopathy 1 9.8 GMPPB ISPD
11 autosomal dominant limb-girdle muscular dystrophy type 1g 9.8 HNRNPDL TNPO3 TRAPPC11
12 muscular dystrophy-dystroglycanopathy , type c, 3 9.8 HNRNPDL TNPO3 TRAPPC11
13 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 HNRNPDL TNPO3 TRAPPC11
14 muscle eye brain disease 9.8 GMPPB ISPD
15 walker-warburg syndrome 9.7 GMPPB ISPD
16 muscular dystrophy-dystroglycanopathy , type c, 9 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
17 autosomal recessive limb-girdle muscular dystrophy type 2r 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
18 muscular dystrophy, limb-girdle, autosomal dominant 1 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
19 muscular dystrophy 9.3 GMPPB HNRNPDL ISPD TNPO3 TRAPPC11
20 muscular dystrophy-dystroglycanopathy , type c, 14 9.3 GMPPB HNRNPDL ISPD TNPO3 TRAPPC11
21 muscular dystrophy-dystroglycanopathy , type c, 7 9.3 GMPPB HNRNPDL ISPD TNPO3 TRAPPC11

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



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

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

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

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

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

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

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

41
Brain, Eye, Tongue

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

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

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

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

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

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

Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotidyltransferase activity GO:0016779 8.62 GMPPB ISPD

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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