MCID: ATS217
MIFTS: 33

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l

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



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 muscular dystrophy, limb-girdle, autosomal recessive 12 and isolated hyperckemia. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l is ANO5 (Anoctamin 5), and among its related pathways/superpathways are Other types of O-glycan biosynthesis and Mannose type O-glycan biosynthesis. Affiliated tissues include skeletal muscle, and related phenotypes are limb-girdle muscular dystrophy and proximal muscle weakness in lower limbs

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 12 11.8
2 isolated hyperckemia 10.1 FKRP ANO5
3 autosomal recessive limb-girdle muscular dystrophy type 2d 10.1 DYSF FKRP
4 miyoshi muscular dystrophy 3 10.0 DYSF ANO5
5 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 FKRP DYSF
6 miyoshi muscular dystrophy 10.0 DYSF ANO5
7 muscular dystrophy, limb-girdle, autosomal recessive 8 10.0 FKRP DYSF
8 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0 FKRP DYSF
9 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 FKRP DYSF
10 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0 FKRP DYSF
11 glaucoma 3, primary congenital, a 9.9 POMT2 POMT1
12 muscular dystrophy, congenital, 1b 9.9 FKTN FKRP
13 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 POMT2 POMT1 ANO5
14 muscular dystrophy-dystroglycanopathy , type c, 1 9.8 POMT2 POMT1 ANO5
15 muscular dystrophy, limb-girdle, autosomal recessive 2 9.8 FKRP DYSF
16 muscular dystrophy-dystroglycanopathy 9.8 POMT2 POMT1 FKRP
17 congenital muscular dystrophy with intellectual disability 9.8 FKRP POMT1 POMT2
18 congenital muscular dystrophy with cerebellar involvement 9.8 FKRP POMT1 POMT2
19 muscular dystrophy, becker type 9.7 FKTN DYSF
20 congenital nervous system abnormality 9.6 POMT1 FKTN
21 muscle tissue disease 9.6 FKTN FKRP DYSF
22 congenital muscular dystrophy without intellectual disability 9.6 POMT1 FKTN FKRP
23 autosomal recessive limb-girdle muscular dystrophy 9.5 ANO5 DYSF FKRP POMT1
24 lissencephaly 9.5 FKTN FKRP
25 ablepharon-macrostomia syndrome 9.5 POMT1 FKTN FKRP
26 muscular dystrophy-dystroglycanopathy , type a, 1 9.3 POMT2 POMT1 FKTN FKRP
27 muscular dystrophy-dystroglycanopathy , type b, 6 9.3 POMT2 POMT1 FKTN FKRP
28 muscular dystrophy-dystroglycanopathy , type a, 4 9.3 POMT2 POMT1 FKTN FKRP
29 muscular dystrophy-dystroglycanopathy , type b, 5 9.3 FKRP FKTN POMT1 POMT2
30 muscle eye brain disease 9.3 FKRP FKTN POMT1 POMT2
31 muscular dystrophy, congenital, lmna-related 9.3 FKRP FKTN POMT1 POMT2
32 walker-warburg syndrome 9.3 POMT2 POMT1 FKTN FKRP
33 muscular dystrophy-dystroglycanopathy , type c, 4 9.1 POMT2 POMT1 FKTN FKRP ANO5
34 limb-girdle muscular dystrophy 9.1 POMT1 FKTN FKRP DYSF ANO5
35 muscular disease 8.8 POMT2 POMT1 FKTN FKRP DYSF ANO5
36 muscular dystrophy 8.5 POMT2 POMT1 LIMS2 FKTN FKRP DYSF

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

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

33 (show all 31)
# Description HPO Frequency HPO Source Accession
1 limb-girdle muscular dystrophy 33 hallmark (90%) HP:0006785
2 proximal muscle weakness in lower limbs 33 hallmark (90%) HP:0008994
3 distal lower limb muscle weakness 33 hallmark (90%) HP:0009053
4 genu recurvatum 33 frequent (33%) HP:0002816
5 emg: myopathic abnormalities 33 frequent (33%) HP:0003458
6 proximal muscle weakness in upper limbs 33 frequent (33%) HP:0008997
7 muscle fiber atrophy 33 frequent (33%) HP:0100295
8 increased variability in muscle fiber diameter 33 frequent (33%) HP:0003557
9 exercise-induced myalgia 33 frequent (33%) HP:0003738
10 increased endomysial connective tissue 33 frequent (33%) HP:0100297
11 lower limb amyotrophy 33 frequent (33%) HP:0007210
12 quadriceps muscle atrophy 33 frequent (33%) HP:0009050
13 emg: neuropathic changes 33 frequent (33%) HP:0003445
14 emg: axonal abnormality 33 frequent (33%) HP:0003482
15 muscle fiber splitting 33 frequent (33%) HP:0003555
16 emg: myotonic runs 33 frequent (33%) HP:0003730
17 pelvic girdle muscle atrophy 33 frequent (33%) HP:0008988
18 fatty replacement of skeletal muscle 33 frequent (33%) HP:0012548
19 internally nucleated skeletal muscle fibers 33 frequent (33%) HP:0031237
20 elevated serum creatine kinase 33 frequent (33%) HP:0003236
21 facial palsy 33 occasional (7.5%) HP:0010628
22 cardiomyopathy 33 occasional (7.5%) HP:0001638
23 elbow flexion contracture 33 occasional (7.5%) HP:0002987
24 scapular winging 33 occasional (7.5%) HP:0003691
25 wrist flexion contracture 33 occasional (7.5%) HP:0001239
26 ankle contracture 33 occasional (7.5%) HP:0006466
27 calf muscle hypertrophy 33 occasional (7.5%) HP:0008981
28 flexion contracture of finger 33 occasional (7.5%) HP:0012785
29 myoglobinuria 33 occasional (7.5%) HP:0002913
30 hamstring contractures 33 occasional (7.5%) HP:0003089
31 upper limb amyotrophy 33 occasional (7.5%) HP:0009129

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 ANO5 DYSF FKRP FKTN LIMS2 POMT1

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:

42
Skeletal Muscle

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

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 10.3 POMT1 POMT2
2 10.29 FKRP FKTN POMT1 POMT2

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 9.5 ANO5 DYSF FKRP FKTN LIMS2 POMT1
2 sarcolemma GO:0042383 9.16 DYSF FKRP
3 endoplasmic reticulum GO:0005783 9.02 ANO5 FKRP FKTN POMT1 POMT2

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

# Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 9.33 FKTN POMT1 POMT2
2 mannosylation GO:0097502 9.32 POMT1 POMT2
3 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT1 POMT2
4 protein glycosylation GO:0006486 9.26 FKRP FKTN POMT1 POMT2
5 protein O-linked mannosylation GO:0035269 8.92 FKRP FKTN POMT1 POMT2

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 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT1 POMT2

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

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
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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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