MCID: ATS332
MIFTS: 17

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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 LIM zinc finger domain containing 2 gene (LIMS2) 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 myopathy, myofibrillar, 7. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w is LIMS2 (LIM Zinc Finger Domain Containing 2). Affiliated tissues include tongue.

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 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
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 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue 11.6
2 myopathy, myofibrillar, 7 10.2 TOR1AIP1 LIMS2
3 scapuloperoneal syndrome, neurogenic, kaeser type 10.1 MYOT DES
4 scapuloperoneal myopathy 10.1 TOR1AIP1 MYOT
5 autosomal dominant distal myopathy 10.1 MYOT DES
6 central core disease of muscle 10.1 MYOT DES
7 myopathy, spheroid body 10.1 MYOT DES
8 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 SGCB MYOT
9 autosomal recessive limb-girdle muscular dystrophy type 2h 10.1 MYOT ANO5
10 epidermolysis bullosa simplex with muscular dystrophy 10.0 TRAPPC11 BVES
11 myopathy, myofibrillar, 1 10.0 MYOT DES
12 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 SGCB MYOT
13 muscular dystrophy, limb-girdle, autosomal dominant 1 10.0 TNPO3 MYOT
14 limb-girdle muscular dystrophy 10.0 TRAPPC11 SGCB MYOT
15 glycogen storage disease ii 10.0 GANC ANO5
16 emery-dreifuss muscular dystrophy 10.0 TOR1AIP1 MYOT DES
17 autosomal dominant limb-girdle muscular dystrophy 10.0 TNPO3 MYOT
18 muscular dystrophy, limb-girdle, autosomal recessive 1 10.0 TRAPPC11 SGCB
19 tibial muscular dystrophy 9.9 MYOT ANO5
20 myofibrillar myopathy 9.8 MYOT DES ANO5
21 autosomal recessive limb-girdle muscular dystrophy type 2l 9.8 SGCB MYOT ANO5
22 autosomal recessive limb-girdle muscular dystrophy type 2c 9.8 SGCB MYOT ANO5
23 autosomal recessive limb-girdle muscular dystrophy type 2a 9.8 SGCB MYOT ANO5
24 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 SGCB MYOT ANO5
25 autosomal recessive limb-girdle muscular dystrophy type 2b 9.8 SGCB MYOT ANO5
26 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 GMPPB ANO5
27 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 SGCB MYOT ANO5
28 batten-turner congenital myopathy 9.8 MYOT DES
29 muscular dystrophy, limb-girdle, autosomal dominant 2 9.8 TNPO3 SGCB MYOT
30 muscular dystrophy, limb-girdle, type 1h 9.7 TRAPPC11 TNPO3 MYOT LIMS2
31 creatine phosphokinase, elevated serum 9.7 GMPPB ANO5
32 autosomal recessive limb-girdle muscular dystrophy type 2g 9.6 SGCB MYOT DES ANO5
33 miyoshi muscular dystrophy 9.6 SGCB MYOT DES ANO5
34 cardiomyopathy, dilated, 1g 9.5 TRAPPC11 SGCB MYOT LIMS2
35 muscular dystrophy-dystroglycanopathy , type c, 4 9.5 TRAPPC11 MYOT GMPPB ANO5
36 muscular dystrophy-dystroglycanopathy , type c, 7 9.4 TRAPPC11 LIMS2 GMPPB GANC DES
37 neuromuscular disease 9.4 SGCB MYOT GMPPB DES
38 muscular dystrophy-dystroglycanopathy , type c, 1 9.4 SGCB MYOT GMPPB ANO5
39 muscular dystrophy-dystroglycanopathy , type c, 3 9.4 TRAPPC11 LIMS2 GMPPB GANC ANO5
40 isolated elevated serum creatine phosphokinase levels 9.4 SGCB MYOT GMPPB ANO5
41 dilated cardiomyopathy 9.3 SGCB MYOT LIMS2 DES ANO5
42 muscular dystrophy, limb-girdle, autosomal dominant 3 9.3 TRAPPC11 TNPO3 MYOT LIMS2 GANC DES
43 walker-warburg syndrome 9.3 TRAPPC11 SGCB POGLUT1 MYOT GMPPB
44 muscular dystrophy, congenital, lmna-related 9.2 TRAPPC11 SGCB MYOT GMPPB ANO5
45 muscular dystrophy-dystroglycanopathy , type c, 14 9.2 TRAPPC11 LIMS2 GMPPB GANC DES ANO5
46 autosomal recessive limb-girdle muscular dystrophy type 2q 9.0 TRAPPC11 TNPO3 MYOT LIMS2 GMPPB ANO5
47 muscular dystrophy-dystroglycanopathy , type c, 9 9.0 TRAPPC11 SGCB MYOT LIMS2 GMPPB GANC
48 autosomal recessive limb-girdle muscular dystrophy type 2x 8.9 TOR1AIP1 POGLUT1 MYOT LIMS2 GMPPB BVES
49 myopathy 8.8 TRAPPC11 TOR1AIP1 TNPO3 SGCB POGLUT1 MYOT
50 autosomal recessive limb-girdle muscular dystrophy 8.6 TRAPPC11 SGCB POGLUT1 MYOT GMPPB DES

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

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:

40
Tongue

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

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

# Title Authors PMID Year
1
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014

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

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

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 8.92 SGCB MYOT DES BVES

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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