MCID: ATS217
MIFTS: 30

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 miyoshi muscular dystrophy 3 and muscular dystrophy. 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, brain and eye, 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 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 2l via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 3 30.3 ANO5 DYSF
2 muscular dystrophy 28.0 ANO5 DYSF FKRP FKTN POMT1 POMT2
3 muscular dystrophy, limb-girdle, autosomal recessive 12 11.8
4 isolated hyperckemia 10.2 ANO5 FKRP
5 muscular dystrophy, limb-girdle, autosomal recessive 8 10.1 DYSF FKRP
6 muscular dystrophy, limb-girdle, autosomal recessive 7 10.1 DYSF FKRP
7 muscular dystrophy, congenital, 1b 10.1 FKRP FKTN
8 muscular dystrophy-dystroglycanopathy , type c, 5 10.1 DYSF FKRP
9 miyoshi muscular dystrophy 10.1 ANO5 DYSF
10 autosomal recessive limb-girdle muscular dystrophy type 2j 10.0 FKRP SGCB
11 autosomal recessive limb-girdle muscular dystrophy type 2h 10.0 FKRP SGCB
12 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 DYSF SGCB
13 autosomal recessive limb-girdle muscular dystrophy type 2g 10.0 DYSF SGCB
14 autosomal recessive limb-girdle muscular dystrophy type 2c 10.0 DYSF SGCB
15 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 DYSF SGCB
16 muscular dystrophy, becker type 9.9 DYSF FKTN
17 lissencephaly 9.9 FKRP FKTN
18 muscle tissue disease 9.8 DYSF FKRP FKTN
19 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 DYSF FKRP SGCB
20 autosomal recessive limb-girdle muscular dystrophy type 2a 9.8 DYSF FKRP SGCB
21 muscular dystrophy, limb-girdle, autosomal recessive 6 9.8 DYSF FKRP SGCB
22 muscular dystrophy, limb-girdle, autosomal recessive 2 9.8 DYSF FKRP SGCB
23 glaucoma 3, primary congenital, a 9.7 POMT1 POMT2
24 muscular dystrophy-dystroglycanopathy 9.7 FKRP POMT1 POMT2
25 muscular dystrophy-dystroglycanopathy , type c, 1 9.7 ANO5 POMT1 POMT2
26 congenital nervous system abnormality 9.7 FKTN POMT1
27 muscular dystrophy-dystroglycanopathy , type c, 2 9.7 ANO5 POMT1 POMT2
28 congenital muscular dystrophy without intellectual disability 9.7 FKRP FKTN POMT1
29 congenital muscular dystrophy with intellectual disability 9.7 FKRP POMT1 POMT2
30 congenital muscular dystrophy with cerebellar involvement 9.7 FKRP POMT1 POMT2
31 ablepharon-macrostomia syndrome 9.6 FKRP FKTN POMT1
32 autosomal recessive limb-girdle muscular dystrophy 9.5 ANO5 DYSF FKRP POMT1
33 dilated cardiomyopathy 9.4 FKRP FKTN SGCB
34 muscular dystrophy-dystroglycanopathy , type a, 1 9.4 FKRP FKTN POMT1 POMT2
35 muscular dystrophy-dystroglycanopathy , type a, 4 9.4 FKRP FKTN POMT1 POMT2
36 muscular dystrophy-dystroglycanopathy , type b, 6 9.4 FKRP FKTN POMT1 POMT2
37 muscular dystrophy-dystroglycanopathy , type b, 5 9.4 FKRP FKTN POMT1 POMT2
38 muscle eye brain disease 9.4 FKRP FKTN POMT1 POMT2
39 muscular dystrophy, congenital, lmna-related 9.4 FKRP FKTN POMT1 POMT2
40 walker-warburg syndrome 9.3 FKRP FKTN POMT1 POMT2
41 muscular dystrophy-dystroglycanopathy , type c, 4 9.2 ANO5 FKRP FKTN POMT1 POMT2
42 limb-girdle muscular dystrophy 8.8 ANO5 DYSF FKRP FKTN POMT1 SGCB
43 muscular disease 8.5 ANO5 DYSF FKRP FKTN POMT1 POMT2

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 increased variability in muscle fiber diameter 33 frequent (33%) HP:0003557
8 exercise-induced myalgia 33 frequent (33%) HP:0003738
9 increased endomysial connective tissue 33 frequent (33%) HP:0100297
10 lower limb amyotrophy 33 frequent (33%) HP:0007210
11 quadriceps muscle atrophy 33 frequent (33%) HP:0009050
12 emg: neuropathic changes 33 frequent (33%) HP:0003445
13 muscle fiber atrophy 33 frequent (33%) HP:0100295
14 pelvic girdle muscle atrophy 33 frequent (33%) HP:0008988
15 emg: axonal abnormality 33 frequent (33%) HP:0003482
16 muscle fiber splitting 33 frequent (33%) HP:0003555
17 emg: myotonic runs 33 frequent (33%) HP:0003730
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 POMT1 SGCB

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, Brain, Eye

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 9.87 ANO5 DYSF FKRP FKTN POMT1 POMT2
2 integral component of membrane GO:0016021 9.8 ANO5 DYSF FKRP FKTN POMT1 POMT2
3 endoplasmic reticulum GO:0005783 9.35 ANO5 FKRP FKTN POMT1 POMT2
4 dystrophin-associated glycoprotein complex GO:0016010 8.85 SGCB
5 sarcolemma GO:0042383 8.8 DYSF FKRP SGCB

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 muscle organ development GO:0007517 9.4 FKTN SGCB
2 mannosylation GO:0097502 9.37 POMT1 POMT2
3 protein O-linked glycosylation GO:0006493 9.33 FKTN POMT1 POMT2
4 muscle fiber development GO:0048747 9.32 DYSF SGCB
5 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT1 POMT2
6 protein glycosylation GO:0006486 9.26 FKRP FKTN POMT1 POMT2
7 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
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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