MCID: ATS211
MIFTS: 22

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

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



External Ids:

Disease Ontology 12 DOID:0110285
ICD10 34 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 autosomal recessive limb-girdle muscular dystrophy type 2w. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q is TNPO3 (Transportin 3).

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 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 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

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 17 11.8
2 autosomal recessive limb-girdle muscular dystrophy type 2w 9.9 TRAPPC11 TNPO3
3 muscular dystrophy-dystroglycanopathy , type c, 7 9.9 TRAPPC11 TNPO3
4 muscular dystrophy-dystroglycanopathy , type c, 1 9.9 TRAPPC11 TNPO3
5 muscular dystrophy-dystroglycanopathy , type c, 14 9.9 TRAPPC11 TNPO3
6 muscular dystrophy-dystroglycanopathy , type c, 9 9.9 TRAPPC11 TNPO3
7 autosomal recessive limb-girdle muscular dystrophy type 2a 9.9 MYOT DNAJB6
8 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 TRAPPC11 TNPO3
9 myopathy, myofibrillar, 3 9.8 MYOT DNAJB6
10 muscular dystrophy-dystroglycanopathy , type c, 3 9.8 TRAPPC11 TNPO3
11 myopathy, spheroid body 9.7 MYOT DNAJB6
12 autosomal dominant limb-girdle muscular dystrophy 9.7 DNAJB6 MYOT TNPO3
13 muscular dystrophy, limb-girdle, type 1h 9.7 DNAJB6 MYOT TNPO3
14 myofibrillar myopathy 9.6 MYOT DNAJB6
15 muscular disease 9.5 PLEC MYOT DNAJB6
16 muscular dystrophy, limb-girdle, autosomal dominant 1 9.2 DNAJB6 MYOT TNPO3 TRAPPC11
17 limb-girdle muscular dystrophy 9.0 DNAJB6 MYOT PLEC TNPO3 TRAPPC11
18 muscular dystrophy 8.7 DNAJB6 LIMS2 MYOT PLEC TNPO3 TRAPPC11

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search 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

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 8.96 DNAJB6 MYOT
2 sarcolemma GO:0042383 8.62 MYOT PLEC

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 8.62 MYOT PLEC

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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