MCID: ATS211
MIFTS: 21

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

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

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

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

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 12 15
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Plectin Deficiency 12
Muscular Dystrophy, Limb-Girdle, Type 2q 12
Lgmd2q 12

Classifications:



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Disease Ontology 12 DOID:0110285
ICD10 32 G71.0

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

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the PLEC1 gene.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q, also known as autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency, is related to muscular dystrophy, limb-girdle, autosomal recessive 17 and limb-girdle muscular dystrophy type 1a. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q is PLEC (Plectin). Related phenotype is muscle.

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

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 17 11.7
2 limb-girdle muscular dystrophy type 1a 10.2 TCAP MYOT
3 muscular dystrophy, limb-girdle, autosomal recessive 7 10.2 TCAP MYOT
4 muscular dystrophy, limb-girdle, autosomal recessive 4 10.1 TCAP SGCA
5 muscular dystrophy, limb-girdle, autosomal recessive 6 10.1 TCAP SGCA
6 myopathy, spheroid body 10.1 TCAP MYOT
7 myopathy, myofibrillar, 4 10.1 TCAP MYOT
8 autosomal recessive limb-girdle muscular dystrophy type 2j 10.0 TCAP SGCA MYOT
9 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 TCAP SGCA MYOT
10 epithelial basement membrane dystrophy 10.0 SYNC PLEC
11 emery-dreifuss muscular dystrophy 10.0 SGCA PLEC MYOT
12 myopathy, myofibrillar, 9, with early respiratory failure 10.0 TCAP MYOT DNAJB6
13 nonaka myopathy 9.9 MYOT DNAJB6
14 congenital muscular dystrophy-dystroglycanopathy type a 9.9 SGCA GMPPB
15 muscular dystrophy, limb-girdle, autosomal dominant 1 9.9 TNPO3 MYOT DNAJB6
16 autosomal recessive limb-girdle muscular dystrophy type 2l 9.9 SGCA MYOT ANO5
17 tibial muscular dystrophy 9.9 TCAP MYOT ANO5
18 muscular dystrophy-dystroglycanopathy , type c, 2 9.9 GMPPB ANO5
19 bethlem myopathy 1 9.9 SGCA MYOT ANO5
20 myopathy, myofibrillar, 5 9.9 SYNC PLEC MYOT
21 muscular dystrophy-dystroglycanopathy , type c, 1 9.9 MYOT GMPPB ANO5
22 epidermolysis bullosa simplex with muscular dystrophy 9.8 TRAPPC11 SYNC PLEC
23 muscular dystrophy-dystroglycanopathy , type a, 4 9.8 SGCA GMPPB
24 creatine phosphokinase, elevated serum 9.8 TCAP GMPPB ANO5
25 muscular dystrophy, limb-girdle, autosomal dominant 2 9.8 TNPO3 TCAP MYOT DNAJB6
26 autosomal dominant limb-girdle muscular dystrophy 9.8 TNPO3 TCAP MYOT DNAJB6
27 autosomal recessive limb-girdle muscular dystrophy type 2h 9.8 TCAP SGCA MYOT ANO5
28 autosomal recessive limb-girdle muscular dystrophy type 2c 9.8 TCAP SGCA MYOT ANO5
29 autosomal recessive limb-girdle muscular dystrophy type 2g 9.8 TCAP SGCA MYOT ANO5
30 autosomal recessive limb-girdle muscular dystrophy type 2a 9.8 TCAP SGCA MYOT ANO5
31 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 TCAP SGCA MYOT ANO5
32 autosomal recessive limb-girdle muscular dystrophy type 2b 9.8 TCAP SGCA MYOT ANO5
33 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 TCAP SGCA MYOT ANO5
34 miyoshi muscular dystrophy 9.8 TCAP SGCA MYOT ANO5
35 limb-girdle muscular dystrophy 9.7 TRAPPC11 TCAP SGCA PLEC MYOT
36 myopathy, myofibrillar, 2 9.7 SYNC PLEC MYOT DNAJB6
37 myopathy, myofibrillar, 1 9.7 SYNC PLEC MYOT DNAJB6
38 muscular dystrophy, becker type 9.7 SYNC SGCA
39 muscular dystrophy-dystroglycanopathy , type c, 4 9.6 TRAPPC11 MYOT GMPPB ANO5
40 muscular dystrophy-dystroglycanopathy , type c, 7 9.6 TRAPPC11 LIMS2 GMPPB
41 walker-warburg syndrome 9.6 TRAPPC11 SGCA PLEC MYOT GMPPB
42 myopathy, myofibrillar, 3 9.5 TCAP SYNC PLEC MYOT DNAJB6
43 isolated elevated serum creatine phosphokinase levels 9.5 TCAP SGCA MYOT GMPPB ANO5
44 muscular dystrophy-dystroglycanopathy , type c, 9 9.5 TRAPPC11 MYOT LIMS2 GMPPB
45 autosomal recessive limb-girdle muscular dystrophy type 2x 9.4 MYOT LIMS2 GMPPB ANO5
46 neuromuscular disease 9.4 TCAP SYNC SGCA MYOT GMPPB
47 muscular dystrophy-dystroglycanopathy , type c, 14 9.4 TRAPPC11 LIMS2 GMPPB ANO5
48 muscular dystrophy-dystroglycanopathy , type c, 3 9.3 TRAPPC11 LIMS2 GMPPB ANO5
49 muscular dystrophy, limb-girdle, type 1h 9.3 TRAPPC11 TNPO3 MYOT LIMS2 DNAJB6
50 muscular dystrophy, limb-girdle, autosomal dominant 3 9.3 TRAPPC11 TNPO3 MYOT LIMS2 DNAJB6

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



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

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

MGI Mouse Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 ANO5 LIMS2 PLEC SGCA SYNC TCAP

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

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

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

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

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

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

# Title Authors PMID Year
1
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy. 61
32576226 2020
2
[Research advances in limb-girdle muscular dystrophy type 2Q]. 61
31416513 2019
3
Novel compound heterozygous PLEC mutations lead to early‑onset limb‑girdle muscular dystrophy 2Q. 61
28447722 2017
4
Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury. 61
28824526 2017
5
Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. 61
25556389 2015
6
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 61
24647604 2014
7
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014

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

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

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

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

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

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.26 TCAP SYNC MYOT DNAJB6
2 sarcolemma GO:0042383 8.92 SYNC SGCA PLEC MYOT

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.8 TCAP PLEC MYOT

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

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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