MCID: ATS211
MIFTS: 25

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:



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 2a. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q is TNPO3 (Transportin 3). Affiliated tissues include skeletal muscle, and related phenotypes are progressive proximal muscle weakness and skeletal muscle atrophy

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
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 2a 9.9 DNAJB6 MYOT
3 autosomal recessive limb-girdle muscular dystrophy type 2w 9.9 TNPO3 TRAPPC11
4 muscular dystrophy-dystroglycanopathy , type c, 9 9.9 TNPO3 TRAPPC11
5 myopathy, myofibrillar, 3 9.9 DNAJB6 MYOT
6 muscular dystrophy-dystroglycanopathy , type c, 14 9.9 TNPO3 TRAPPC11
7 muscular dystrophy-dystroglycanopathy , type c, 1 9.9 TNPO3 TRAPPC11
8 muscular dystrophy-dystroglycanopathy , type c, 7 9.9 TNPO3 TRAPPC11
9 muscular dystrophy-dystroglycanopathy , type c, 3 9.8 TNPO3 TRAPPC11
10 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 TNPO3 TRAPPC11
11 myopathy, spheroid body 9.8 DNAJB6 MYOT
12 autosomal dominant limb-girdle muscular dystrophy 9.8 DNAJB6 MYOT TNPO3
13 muscular dystrophy, limb-girdle, type 1h 9.8 DNAJB6 MYOT TNPO3
14 myofibrillar myopathy 9.7 DNAJB6 MYOT
15 muscular disease 9.6 DNAJB6 MYOT PLEC
16 muscular dystrophy, limb-girdle, autosomal dominant 1 9.3 DNAJB6 MYOT TNPO3 TRAPPC11
17 limb-girdle muscular dystrophy 9.1 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

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

33 (show all 29)
# Description HPO Frequency HPO Source Accession
1 progressive proximal muscle weakness 33 hallmark (90%) HP:0009073
2 skeletal muscle atrophy 33 frequent (33%) HP:0003202
3 emg: myopathic abnormalities 33 frequent (33%) HP:0003458
4 pelvic girdle muscle weakness 33 frequent (33%) HP:0003749
5 frequent falls 33 frequent (33%) HP:0002359
6 gowers sign 33 frequent (33%) HP:0003391
7 difficulty climbing stairs 33 frequent (33%) HP:0003551
8 loss of ability to walk 33 frequent (33%) HP:0006957
9 axial muscle atrophy 33 frequent (33%) HP:0040287
10 elevated serum creatine kinase 33 frequent (33%) HP:0003236
11 dysphagia 33 occasional (7.5%) HP:0002015
12 global developmental delay 33 occasional (7.5%) HP:0001263
13 generalized muscle weakness 33 occasional (7.5%) HP:0003324
14 achilles tendon contracture 33 occasional (7.5%) HP:0001771
15 nasal speech 33 occasional (7.5%) HP:0001611
16 increased lactate dehydrogenase activity 33 occasional (7.5%) HP:0025435
17 areflexia 33 occasional (7.5%) HP:0001284
18 distal lower limb muscle weakness 33 occasional (7.5%) HP:0009053
19 delayed gross motor development 33 occasional (7.5%) HP:0002194
20 calf muscle hypertrophy 33 occasional (7.5%) HP:0008981
21 bilateral ptosis 33 occasional (7.5%) HP:0001488
22 proximal upper limb muscle hypertrophy 33 occasional (7.5%) HP:0040266
23 bilateral facial palsy 33 occasional (7.5%) HP:0430025
24 pulmonary fibrosis 33 very rare (1%) HP:0002206
25 decreased cervical spine flexion due to contractures of posterior cervical muscles 33 very rare (1%) HP:0004631
26 atelectasis 33 very rare (1%) HP:0100750
27 right bundle branch block 33 very rare (1%) HP:0011712
28 exertional dyspnea 33 very rare (1%) HP:0002875
29 bronchiolitis 33 very rare (1%) HP:0011950

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

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

42
Skeletal Muscle

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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