MCID: ATS217
MIFTS: 36

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, brain and eye, and related phenotypes are facial palsy and elevated serum creatine phosphokinase

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 12 11.8
2 isolated hyperckemia 10.1 ANO5 FKRP
3 autosomal recessive limb-girdle muscular dystrophy type 2j 10.0 FKRP SGCB
4 autosomal recessive limb-girdle muscular dystrophy type 2h 10.0 FKRP SGCB
5 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 DYSF SGCB
6 muscular dystrophy, limb-girdle, autosomal recessive 8 10.0 DYSF FKRP
7 autosomal recessive limb-girdle muscular dystrophy type 2g 10.0 DYSF SGCB
8 miyoshi muscular dystrophy 3 10.0 ANO5 DYSF
9 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0 DYSF FKRP
10 miyoshi muscular dystrophy 10.0 ANO5 DYSF
11 autosomal dominant limb-girdle muscular dystrophy type 1c 10.0 DYSF FKRP
12 autosomal recessive limb-girdle muscular dystrophy type 2c 10.0 DYSF SGCB
13 glaucoma 3, primary congenital, a 10.0 POMT1 POMT2
14 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 DYSF FKRP
15 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 DYSF SGCB
16 muscular dystrophy-dystroglycanopathy , type c, 1 9.9 ANO5 POMT1 POMT2
17 muscular dystrophy-dystroglycanopathy , type c, 2 9.9 ANO5 POMT1 POMT2
18 muscular dystrophy-dystroglycanopathy 9.9 FKRP POMT1 POMT2
19 congenital muscular dystrophy with intellectual disability 9.9 FKRP POMT1 POMT2
20 muscular dystrophy, congenital, 1b 9.9 FKRP FKTN
21 congenital muscular dystrophy with cerebellar involvement 9.9 FKRP POMT1 POMT2
22 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 DYSF FKRP SGCB
23 autosomal recessive limb-girdle muscular dystrophy type 2a 9.8 DYSF FKRP SGCB
24 muscular dystrophy, limb-girdle, autosomal recessive 6 9.8 DYSF FKRP SGCB
25 muscular dystrophy, limb-girdle, autosomal recessive 2 9.8 DYSF FKRP SGCB
26 muscular dystrophy, becker type 9.8 DYSF FKTN
27 congenital nervous system abnormality 9.8 FKTN POMT1
28 lissencephaly 9.8 FKRP FKTN
29 congenital muscular dystrophy without intellectual disability 9.8 FKRP FKTN POMT1
30 ablepharon-macrostomia syndrome 9.8 FKRP FKTN POMT1
31 autosomal recessive limb-girdle muscular dystrophy 9.7 ANO5 DYSF FKRP POMT1
32 muscle tissue disease 9.7 DYSF FKRP FKTN
33 muscular dystrophy-dystroglycanopathy , type a, 1 9.6 FKRP FKTN POMT1 POMT2
34 muscular dystrophy-dystroglycanopathy , type a, 4 9.6 FKRP FKTN POMT1 POMT2
35 muscular dystrophy-dystroglycanopathy , type b, 6 9.6 FKRP FKTN POMT1 POMT2
36 muscular dystrophy-dystroglycanopathy , type b, 5 9.6 FKRP FKTN POMT1 POMT2
37 muscle eye brain disease 9.6 FKRP FKTN POMT1 POMT2
38 muscular dystrophy, congenital, lmna-related 9.6 FKRP FKTN POMT1 POMT2
39 walker-warburg syndrome 9.6 FKRP FKTN POMT1 POMT2
40 dilated cardiomyopathy 9.5 FKRP FKTN SGCB
41 muscular dystrophy-dystroglycanopathy , type c, 4 9.5 ANO5 FKRP FKTN POMT1 POMT2
42 limb-girdle muscular dystrophy 9.2 ANO5 DYSF FKRP FKTN POMT1 SGCB
43 muscular dystrophy 9.1 ANO5 DYSF FKRP FKTN POMT1 POMT2
44 muscular disease 9.1 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:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 facial palsy 32 occasional (7.5%) HP:0010628
2 elevated serum creatine phosphokinase 32 frequent (33%) HP:0003236
3 genu recurvatum 32 frequent (33%) HP:0002816
4 cardiomyopathy 32 occasional (7.5%) HP:0001638
5 limb-girdle muscular dystrophy 32 hallmark (90%) HP:0006785
6 elbow flexion contracture 32 occasional (7.5%) HP:0002987
7 scapular winging 32 occasional (7.5%) HP:0003691
8 proximal muscle weakness in lower limbs 32 hallmark (90%) HP:0008994
9 proximal muscle weakness in upper limbs 32 frequent (33%) HP:0008997
10 wrist flexion contracture 32 occasional (7.5%) HP:0001239
11 muscle fiber atrophy 32 frequent (33%) HP:0100295
12 increased variability in muscle fiber diameter 32 frequent (33%) HP:0003557
13 distal lower limb muscle weakness 32 hallmark (90%) HP:0009053
14 ankle contracture 32 occasional (7.5%) HP:0006466
15 exercise-induced myalgia 32 frequent (33%) HP:0003738
16 calf muscle hypertrophy 32 occasional (7.5%) HP:0008981
17 flexion contracture of finger 32 occasional (7.5%) HP:0012785
18 muscle fiber splitting 32 frequent (33%) HP:0003555
19 internally nucleated skeletal muscle fibers 32 frequent (33%) HP:0031237
20 myoglobinuria 32 occasional (7.5%) HP:0002913
21 increased endomysial connective tissue 32 frequent (33%) HP:0100297
22 lower limb amyotrophy 32 frequent (33%) HP:0007210
23 quadriceps muscle atrophy 32 frequent (33%) HP:0009050
24 hamstring contractures 32 occasional (7.5%) HP:0003089
25 upper limb amyotrophy 32 occasional (7.5%) HP:0009129
26 pelvic girdle muscle atrophy 32 frequent (33%) HP:0008988
27 fatty replacement of skeletal muscle 32 frequent (33%) HP:0012548
28 emg 32 frequent (33%) HP:0003445

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

46
# 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:

41
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 9.16 FKRP 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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