MCID: ATS211
MIFTS: 21

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:



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Disease Ontology 12 DOID:0110285
ICD10 33 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 HNRNPDL (Heterogeneous Nuclear Ribonucleoprotein D Like).

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

(show all 23)
# 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 10.0 HNRNPDL TNPO3
3 muscular dystrophy-dystroglycanopathy , type c, 9 10.0 HNRNPDL TNPO3
4 muscular dystrophy-dystroglycanopathy , type c, 14 10.0 HNRNPDL TNPO3
5 muscular dystrophy-dystroglycanopathy , type c, 1 10.0 HNRNPDL TNPO3
6 muscular dystrophy-dystroglycanopathy , type c, 7 10.0 HNRNPDL TNPO3
7 autosomal recessive limb-girdle muscular dystrophy type 2r 10.0 HNRNPDL TNPO3
8 muscular dystrophy-dystroglycanopathy , type c, 3 10.0 HNRNPDL TNPO3
9 muscular dystrophy-dystroglycanopathy , type c, 2 10.0 HNRNPDL TNPO3
10 autosomal recessive limb-girdle muscular dystrophy type 2a 9.8 DNAJB6 MYOT
11 myopathy, myofibrillar, 3 9.8 DNAJB6 MYOT
12 myopathy, spheroid body 9.8 DNAJB6 MYOT
13 autosomal dominant limb-girdle muscular dystrophy type 1b 9.7 DNAJB6 HNRNPDL TNPO3
14 autosomal dominant limb-girdle muscular dystrophy type 1c 9.7 DNAJB6 HNRNPDL TNPO3
15 autosomal dominant limb-girdle muscular dystrophy 9.7 DNAJB6 MYOT TNPO3
16 myofibrillar myopathy 9.7 DNAJB6 MYOT
17 muscular disease 9.6 DNAJB6 MYOT PLEC
18 muscular dystrophy, limb-girdle, type 1h 9.6 DNAJB6 HNRNPDL MYOT TNPO3
19 autosomal dominant limb-girdle muscular dystrophy type 1f 9.5 DNAJB6 HNRNPDL MYOT TNPO3
20 autosomal dominant limb-girdle muscular dystrophy type 1g 9.5 DNAJB6 HNRNPDL MYOT TNPO3
21 muscular dystrophy, limb-girdle, autosomal dominant 1 9.5 DNAJB6 HNRNPDL MYOT TNPO3
22 limb-girdle muscular dystrophy 9.3 DNAJB6 HNRNPDL MYOT PLEC TNPO3
23 muscular dystrophy 9.3 DNAJB6 HNRNPDL MYOT PLEC TNPO3

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 cytoplasm GO:0005737 9.55 DNAJB6 HNRNPDL MYOT PLEC TNPO3
2 Z disc GO:0030018 8.96 DNAJB6 MYOT
3 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 ExPASy
19 FMA
28 GO
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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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