MCID: ATS217
MIFTS: 29

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l

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

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

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

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 12 15
Muscular Dystrophy, Limb-Girdle, Type 2l 12
Lgmd2l 12

Classifications:



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Disease Ontology 12 DOID:0110284
ICD10 32 G71.0

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

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l, also known as muscular dystrophy, limb-girdle, type 2l, is related to miyoshi muscular dystrophy 3 and gnathodiaphyseal dysplasia. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l is ANO5 (Anoctamin 5), and among its related pathways/superpathways are Allograft rejection and O-linked glycosylation. Affiliated tissues include skeletal muscle, and related phenotypes are cardiovascular system and muscle

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

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

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 3 30.1 DYSF CAPN3 ANO5 ANO2
2 gnathodiaphyseal dysplasia 30.1 ANO5 ANO2
3 limb-girdle muscular dystrophy 27.4 SGCG SGCD SGCB SGCA POMT1 POMGNT1
4 myopathy 27.1 SGCG SGCD SGCB SGCA POMT1 MYOT
5 muscular dystrophy 26.4 SGCG SGCD SGCB SGCA POMT2 POMT1
6 muscular dystrophy, limb-girdle, autosomal recessive 2 26.2 SGCG SGCD SGCB SGCA POMT2 POMT1
7 muscular dystrophy, limb-girdle, autosomal recessive 12 11.7
8 limb-girdle muscular dystrophy type 1c 10.3 FKRP DYSF
9 paresthesia 10.3 FKRP CAPN3
10 ludwig's angina 10.2 ANO5 ANO2
11 foot drop 10.2 MYOT DYSF
12 congenital muscular dystrophy-dystroglycanopathy a7 10.2 FKTN FKRP
13 muscular dystrophy-dystroglycanopathy , type c, 7 10.2 FKTN FKRP
14 fukuyama type muscular dystrophy 10.2 FKTN FKRP
15 congenital muscular dystrophy-dystroglycanopathy type a2 10.2 POMT2 POMT1
16 congenital muscular dystrophy without intellectual disability 10.2 POMT1 FKTN FKRP
17 polyglucosan body myopathy 1 with or without immunodeficiency 10.2 FKRP CAPN3
18 autosomal recessive limb-girdle muscular dystrophy type 2x 10.2 MYOT DYSF ANO5
19 muscular dystrophy, limb-girdle, autosomal recessive 8 10.2 FKRP DYSF CAPN3
20 glycogen storage disease ii 10.1 FKRP CAPN3 ANO5
21 autosomal dominant limb-girdle muscular dystrophy 10.1 MYOT CAPN3
22 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.1 FKRP DYSF CAPN3
23 congenital muscular dystrophy-dystroglycanopathy type a5 10.1 FKRP DAG1
24 muscular dystrophy-dystroglycanopathy , type c, 14 10.1 DAG1 ANO5
25 creatine phosphokinase, elevated serum 10.1 CAPN3 ANO5
26 cardiomyopathy, dilated, 1x 10.1 FKTN DAG1
27 myopathy, myofibrillar, 3 10.1 MYOT DYSF CAPN3
28 muscular dystrophy, limb-girdle, autosomal dominant 1 10.1 MYOT DYSF CAPN3
29 myopathy, myofibrillar, 1 10.1 MYOT CAPN3
30 congenital muscular dystrophy with intellectual disability 10.1 POMT2 POMT1 FKRP
31 autosomal recessive limb-girdle muscular dystrophy type 2w 10.1 SGCB MYOT ANO5
32 epidermolysis bullosa simplex with mottled pigmentation 10.1 POMT2 POMT1
33 miyoshi muscular dystrophy 1 10.0
34 muscular dystrophy, congenital, 1b 10.0 FKTN FKRP DAG1
35 myopathy, myofibrillar, 9, with early respiratory failure 10.0 MYOT CAPN3
36 limb-girdle muscular dystrophy type 1a 10.0 MYOT FKRP DYSF CAPN3
37 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0 MYOT FKRP DYSF CAPN3
38 cardiomyopathy, dilated, 1l 10.0 SGCD SGCB
39 congenital muscular dystrophy-dystroglycanopathy type a3 10.0 POMT2 POMT1 POMGNT1
40 myofibrillar myopathy 10.0 MYOT DYSF CAPN3 ANO5
41 autosomal recessive limb-girdle muscular dystrophy type 2q 10.0 SGCA MYOT ANO5
42 dysferlinopathy 10.0 SGCA DYSF CAPN3
43 muscular dystrophy-dystroglycanopathy , type a, 1 9.9 POMT2 POMT1 FKTN FKRP
44 ablepharon-macrostomia syndrome 9.9 POMT1 POMGNT1 FKTN FKRP
45 muscular dystrophy-dystroglycanopathy , type c, 9 9.9 SGCB MYOT DAG1
46 fructose intolerance, hereditary 9.9
47 ano5 muscle disease 9.9
48 congenital muscular dystrophy with cerebellar involvement 9.9 POMT2 POMT1 POMGNT1 FKRP
49 congenital disorder of glycosylation, type in 9.9 POMT2 POMT1 DAG1
50 retinal lattice degeneration 9.8 POMT2 POMT1 FKTN DAG1

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



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

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 ANO5 CAPN3 DAG1 FKRP POMGNT1 POMT1
2 muscle MP:0005369 9.4 ANO5 CAPN3 DAG1 DYSF FKRP FKTN

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

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

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

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

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

40
Skeletal Muscle

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

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

(show all 37)
# Title Authors PMID Year
1
Endoplasmic reticulum maintains ion homeostasis required for plasma membrane repair. 61
33688936 2021
2
Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern. 61
32399949 2020
3
Dysferlin-deficient myotubes show tethering of different membrane compartments characterized by TMEM16E and DHPR╬▒. 61
32736698 2020
4
Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca2+ signaling of differentiated C2C12 myotubes. 61
31680776 2019
5
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure. 61
31395899 2019
6
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 61
30919934 2019
7
Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells. 61
31341644 2019
8
Anoctamin 5/TMEM16E facilitates muscle precursor cell fusion. 61
30257928 2018
9
First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features. 61
30235762 2018
10
Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations. 61
29789544 2018
11
A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide. 61
29665321 2018
12
A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties. 61
28214267 2017
13
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. 61
26886200 2016
14
Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages. 61
26155063 2015
15
Clinical and genetic features of anoctaminopathy in Saudi Arabia. 61
25864073 2015
16
Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy. 61
26693275 2015
17
Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. 61
25176504 2014
18
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 61
25135358 2014
19
Aerobic training in patients with anoctamin 5 myopathy and hyperckemia. 61
24639367 2014
20
The significance of pathological spontaneous activity in various myopathies. 61
24370491 2014
21
Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy. 61
24843231 2014
22
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
23
Eosinophils in hereditary and inflammatory myopathies. 61
24803842 2013
24
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. 61
23606453 2013
25
ANO5 mutations in the Dutch limb girdle muscular dystrophy population. 61
23607914 2013
26
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. 61
22742934 2012
27
LGMD2L with bone affection: overlapping phenotype of dominant and recessive ANO5-induced disease. 61
23055322 2012
28
ANO5 Muscle Disease 61
23193613 2012
29
Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. 61
23035061 2012
30
Muscle MRI findings in limb girdle muscular dystrophy type 2L. 61
22980763 2012
31
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. 61
22499103 2012
32
[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings]. 61
21739273 2011
33
Other limb-girdle muscular dystrophies. 61
21496628 2011
34
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 61
20096397 2010
35
[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies]. 61
18975603 2008
36
Muscular dystrophies due to glycosylation defects. 61
19019316 2008
37
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. 61
17044012 2006

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

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

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

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

Pathways related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 SGCG SGCD SGCB SGCA DAG1
2
Show member pathways
11.82 POMT2 POMT1 POMGNT1 DAG1
3
Show member pathways
11.82 SGCG SGCD SGCB SGCA DAG1
4 11.54 SGCG SGCD SGCB SGCA DAG1
5 10.38 POMT2 POMT1 POMGNT1 FKTN FKRP

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

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.21 SGCG SGCD SGCB SGCA POMT2 POMT1
2 plasma membrane GO:0005886 10.14 SGCG SGCD SGCB SGCA MYOT FKRP
3 integral component of membrane GO:0016021 10.13 SGCG SGCD SGCB SGCA POMT2 POMT1
4 cytoskeleton GO:0005856 9.91 SGCG SGCD SGCB SGCA MYOT DAG1
5 dystrophin-associated glycoprotein complex GO:0016010 9.46 SGCD SGCB SGCA DAG1
6 dystroglycan complex GO:0016011 9.43 SGCB SGCA DAG1
7 sarcoglycan complex GO:0016012 9.26 SGCG SGCD SGCB SGCA
8 sarcolemma GO:0042383 9.23 SGCG SGCD SGCB SGCA MYOT FKRP

Biological processes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.65 POMT2 POMT1 POMGNT1 FKTN FKRP
2 muscle contraction GO:0006936 9.58 SGCA MYOT DYSF
3 skeletal muscle tissue regeneration GO:0043403 9.49 SGCA DAG1
4 cardiac muscle tissue development GO:0048738 9.48 SGCG SGCD
5 mannosylation GO:0097502 9.46 POMT2 POMT1
6 protein O-linked glycosylation GO:0006493 9.46 POMT2 POMT1 POMGNT1 FKTN
7 heart contraction GO:0060047 9.43 SGCG SGCD
8 response to denervation involved in regulation of muscle adaptation GO:0014894 9.37 SGCA DAG1
9 positive regulation of protein O-linked glycosylation GO:1904100 9.32 POMT2 POMT1
10 protein O-linked mannosylation GO:0035269 9.26 POMT2 POMT1 FKTN FKRP
11 muscle organ development GO:0007517 9.1 SGCG SGCD SGCB SGCA FKTN CAPN3

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

# Name GO ID Score Top Affiliating Genes
1 mannosyltransferase activity GO:0000030 9.37 POMT2 POMT1
2 alpha-actinin binding GO:0051393 9.32 MYOT DAG1
3 intracellular calcium activated chloride channel activity GO:0005229 9.26 ANO5 ANO2
4 dystroglycan binding GO:0002162 9.16 FKRP DAG1
5 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.96 POMT2 POMT1
6 structural constituent of muscle GO:0008307 8.8 MYOT DAG1 CAPN3

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

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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