LGMDR12
MCID: MSC181
MIFTS: 29

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 (LGMDR12)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 58 76
Muscular Dystrophy, Limb-Girdle, Type 2l 58 54 76 13
Lgmd2l 58 54 60 76
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 54 60
Limb-Girdle Muscular Dystrophy, Type 2l 30 6
Lgmdr12 58 76
Muscular Dystrophy, Limb-Girdle, Type 2l; Lgmd2l 58
Dystrophy, Muscular, Limb-Girdle, Type 2l 41
Limb-Girdle Muscular Dystrophy Type 2l 54
Limb-Girdle Muscular Dystrophy 2l 76

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive limb-girdle muscular dystrophy type 2l
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
intrafamilial variability
range of onset 11 to 50 years
patients may become wheelchair-bound after about 12 years
allelic disorder to miyoshi muscular dystrophy 3 (mmd3, )


HPO:

33
muscular dystrophy, limb-girdle, autosomal recessive 12:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 611307
MeSH 45 D049288
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C1969785
Orphanet 60 ORPHA206549
MedGen 43 C1969785

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

UniProtKB/Swiss-Prot : 76 Muscular dystrophy, limb-girdle, autosomal recessive 12: An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12, also known as muscular dystrophy, limb-girdle, type 2l, is related to autosomal recessive limb-girdle muscular dystrophy type 2l and muscular dystrophy, and has symptoms including myalgia An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 is ANO5 (Anoctamin 5). Affiliated tissues include skeletal muscle, and related phenotypes are elevated serum creatine kinase and facial palsy

Description from OMIM: 611307

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

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 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2l 11.7
2 muscular dystrophy 10.7
3 limb-girdle muscular dystrophy 10.7
4 myopathy 10.6

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

33 60 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine kinase 33 frequent (33%) HP:0003236
2 facial palsy 60 33 Occasional (29-5%) HP:0010628
3 emg: myopathic abnormalities 60 33 Frequent (79-30%) HP:0003458
4 myalgia 60 33 Very frequent (99-80%) HP:0003326
5 calf muscle hypertrophy 60 33 Occasional (29-5%) HP:0008981
6 flexion contracture 60 Occasional (29-5%)
7 elevated serum creatine phosphokinase 60 Frequent (79-30%)
8 genu recurvatum 60 Frequent (79-30%)
9 cardiomyopathy 60 Occasional (29-5%)
10 limb-girdle muscular dystrophy 60 Very frequent (99-80%)
11 elbow flexion contracture 60 Occasional (29-5%)
12 scapular winging 60 Occasional (29-5%)
13 proximal muscle weakness in lower limbs 60 Very frequent (99-80%)
14 proximal muscle weakness in upper limbs 60 Frequent (79-30%)
15 pelvic girdle muscle weakness 33 HP:0003749
16 proximal muscle weakness 33 HP:0003701
17 wrist flexion contracture 60 Occasional (29-5%)
18 abnormality of muscle fibers 60 Frequent (79-30%)
19 muscular dystrophy 33 HP:0003560
20 increased connective tissue 33 HP:0009025
21 muscle fiber atrophy 60 Frequent (79-30%)
22 increased variability in muscle fiber diameter 60 Frequent (79-30%)
23 distal lower limb muscle weakness 60 Very frequent (99-80%)
24 ankle contracture 60 Occasional (29-5%)
25 exercise-induced myalgia 60 Frequent (79-30%)
26 flexion contracture of finger 60 Occasional (29-5%)
27 myoglobinuria 60 Occasional (29-5%)
28 increased endomysial connective tissue 60 Frequent (79-30%)
29 lower limb amyotrophy 60 Frequent (79-30%)
30 quadriceps muscle atrophy 60 Frequent (79-30%)
31 hamstring contractures 60 Occasional (29-5%)
32 emg: neuropathic changes 60 Frequent (79-30%)
33 shoulder girdle muscle weakness 33 HP:0003547
34 upper limb amyotrophy 60 Occasional (29-5%)
35 abnormality of the calf musculature 60 Frequent (79-30%)
36 emg: axonal abnormality 60 Frequent (79-30%)
37 muscle fiber splitting 60 Frequent (79-30%)
38 emg: myotonic runs 60 Frequent (79-30%)
39 pelvic girdle muscle atrophy 60 Frequent (79-30%)
40 fatty replacement of skeletal muscle 60 Frequent (79-30%)
41 internally nucleated skeletal muscle fibers 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
myalgia
proximal muscle weakness
shoulder girdle muscle weakness
emg shows myopathic changes
skeletal muscle biopsy shows dystrophic changes
more
Head And Neck Face:
mild facial weakness (less common)

Laboratory Abnormalities:
normal or increased serum creatine kinase

Clinical features from OMIM:

611307

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:


myalgia

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2l 30 ANO5

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

42
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

# Title Authors Year
1
Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy. ( 24843231 )
2014
2
Macular dystrophy presenting in one of two siblings with limb-girdle muscular dystrophy type 2L due to mutation of ANO5. ( 24232312 )
2014
3
Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy. ( 25291917 )
2014
4
Muscle MRI findings in limb girdle muscular dystrophy type 2L. ( 22980763 )
2012

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

6 (show top 50) (show all 264)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANO5 NM_213599.2(ANO5): c.1520delT (p.Phe507Serfs) deletion Pathogenic rs794727158 GRCh37 Chromosome 11, 22281177: 22281177
2 ANO5 NM_213599.2(ANO5): c.1520delT (p.Phe507Serfs) deletion Pathogenic rs794727158 GRCh38 Chromosome 11, 22259631: 22259631
3 ANO5 NM_213599.2(ANO5): c.1898+1G> A single nucleotide variant Pathogenic rs142027093 GRCh37 Chromosome 11, 22284590: 22284590
4 ANO5 NM_213599.2(ANO5): c.1898+1G> A single nucleotide variant Pathogenic rs142027093 GRCh38 Chromosome 11, 22263044: 22263044
5 ANO5 NM_213599.2(ANO5): c.2172_2178delTCATAGC (p.His725Terfs) deletion Pathogenic rs794727231 GRCh37 Chromosome 11, 22294472: 22294478
6 ANO5 NM_213599.2(ANO5): c.2172_2178delTCATAGC (p.His725Terfs) deletion Pathogenic rs794727231 GRCh38 Chromosome 11, 22272926: 22272932
7 ANO5 NM_213599.2(ANO5): c.2176dupA (p.Ser726Lysfs) duplication Pathogenic rs797044667 GRCh37 Chromosome 11, 22294476: 22294476
8 ANO5 NM_213599.2(ANO5): c.2176dupA (p.Ser726Lysfs) duplication Pathogenic rs797044667 GRCh38 Chromosome 11, 22272930: 22272930
9 ANO5 NM_213599.2(ANO5): c.2141C> G (p.Thr714Ser) single nucleotide variant Uncertain significance rs200631556 GRCh37 Chromosome 11, 22294441: 22294441
10 ANO5 NM_213599.2(ANO5): c.2141C> G (p.Thr714Ser) single nucleotide variant Uncertain significance rs200631556 GRCh38 Chromosome 11, 22272895: 22272895
11 ANO5 NM_213599.2(ANO5): c.2387C> T (p.Ser796Leu) single nucleotide variant Benign/Likely benign rs61910685 GRCh37 Chromosome 11, 22296266: 22296266
12 ANO5 NM_213599.2(ANO5): c.2387C> T (p.Ser796Leu) single nucleotide variant Benign/Likely benign rs61910685 GRCh38 Chromosome 11, 22274720: 22274720
13 ANO5 NM_213599.2(ANO5): c.2503_2505delTTC (p.Phe835del) deletion Conflicting interpretations of pathogenicity rs794727350 GRCh37 Chromosome 11, 22297728: 22297730
14 ANO5 NM_213599.2(ANO5): c.2503_2505delTTC (p.Phe835del) deletion Conflicting interpretations of pathogenicity rs794727350 GRCh38 Chromosome 11, 22276182: 22276184
15 ANO5 NM_213599.2(ANO5): c.2521C> G (p.His841Asp) single nucleotide variant Pathogenic/Likely pathogenic rs781027702 GRCh37 Chromosome 11, 22301090: 22301090
16 ANO5 NM_213599.2(ANO5): c.2521C> G (p.His841Asp) single nucleotide variant Pathogenic/Likely pathogenic rs781027702 GRCh38 Chromosome 11, 22279544: 22279544
17 ANO5 NM_213599.2(ANO5): c.2698A> C (p.Met900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148293985 GRCh37 Chromosome 11, 22301267: 22301267
18 ANO5 NM_213599.2(ANO5): c.2698A> C (p.Met900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148293985 GRCh38 Chromosome 11, 22279721: 22279721
19 ANO5 NM_213599.2(ANO5): c.172C> T (p.Arg58Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201725369 GRCh37 Chromosome 11, 22239825: 22239825
20 ANO5 NM_213599.2(ANO5): c.172C> T (p.Arg58Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201725369 GRCh38 Chromosome 11, 22218279: 22218279
21 ANO5 NM_213599.2(ANO5): c.155A> G (p.Asn52Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143777403 GRCh37 Chromosome 11, 22239808: 22239808
22 ANO5 NM_213599.2(ANO5): c.155A> G (p.Asn52Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143777403 GRCh38 Chromosome 11, 22218262: 22218262
23 ANO5 NM_213599.2(ANO5): c.294G> A (p.Ala98=) single nucleotide variant Conflicting interpretations of pathogenicity rs142858990 GRCh37 Chromosome 11, 22242756: 22242756
24 ANO5 NM_213599.2(ANO5): c.294G> A (p.Ala98=) single nucleotide variant Conflicting interpretations of pathogenicity rs142858990 GRCh38 Chromosome 11, 22221210: 22221210
25 ANO5 NM_213599.2(ANO5): c.762+1G> A single nucleotide variant Pathogenic rs372221490 GRCh37 Chromosome 11, 22257823: 22257823
26 ANO5 NM_213599.2(ANO5): c.762+1G> A single nucleotide variant Pathogenic rs372221490 GRCh38 Chromosome 11, 22236277: 22236277
27 ANO5 NM_213599.2(ANO5): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs566415362 GRCh37 Chromosome 11, 22276946: 22276946
28 ANO5 NM_213599.2(ANO5): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs566415362 GRCh38 Chromosome 11, 22255400: 22255400
29 ANO5 NM_213599.2(ANO5): c.1295C> G (p.Ala432Gly) single nucleotide variant Pathogenic rs137854524 GRCh37 Chromosome 11, 22277031: 22277031
30 ANO5 NM_213599.2(ANO5): c.1295C> G (p.Ala432Gly) single nucleotide variant Pathogenic rs137854524 GRCh38 Chromosome 11, 22255485: 22255485
31 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic/Likely pathogenic rs137854521 GRCh37 Chromosome 11, 22242653: 22242653
32 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic/Likely pathogenic rs137854521 GRCh38 Chromosome 11, 22221107: 22221107
33 ANO5 NM_213599.2(ANO5): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854523 GRCh37 Chromosome 11, 22257752: 22257752
34 ANO5 NM_213599.2(ANO5): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854523 GRCh38 Chromosome 11, 22236206: 22236206
35 ANO5 NM_213599.2(ANO5): c.2272C> T (p.Arg758Cys) single nucleotide variant Pathogenic rs137854529 GRCh37 Chromosome 11, 22296151: 22296151
36 ANO5 NM_213599.2(ANO5): c.2272C> T (p.Arg758Cys) single nucleotide variant Pathogenic rs137854529 GRCh38 Chromosome 11, 22274605: 22274605
37 ANO5 NM_213599.2(ANO5): c.1407+5G> A single nucleotide variant Pathogenic rs281865464 GRCh37 Chromosome 11, 22279305: 22279305
38 ANO5 NM_213599.2(ANO5): c.1407+5G> A single nucleotide variant Pathogenic rs281865464 GRCh38 Chromosome 11, 22257759: 22257759
39 ANO5 NM_213599.2(ANO5): c.2311_2312delCA (p.Gln771Alafs) deletion Pathogenic rs137854528 GRCh37 Chromosome 11, 22296190: 22296191
40 ANO5 NM_213599.2(ANO5): c.2311_2312delCA (p.Gln771Alafs) deletion Pathogenic rs137854528 GRCh38 Chromosome 11, 22274644: 22274645
41 ANO5 ANO5, IVS14DS, G-A, +5 single nucleotide variant Pathogenic
42 ANO5 NM_213599.2(ANO5): c.1029C> T (p.Asp343=) single nucleotide variant Conflicting interpretations of pathogenicity rs78899595 GRCh37 Chromosome 11, 22272302: 22272302
43 ANO5 NM_213599.2(ANO5): c.1029C> T (p.Asp343=) single nucleotide variant Conflicting interpretations of pathogenicity rs78899595 GRCh38 Chromosome 11, 22250756: 22250756
44 ANO5 NM_213599.2(ANO5): c.242A> G (p.Asp81Gly) single nucleotide variant Likely pathogenic rs199501657 GRCh37 Chromosome 11, 22242704: 22242704
45 ANO5 NM_213599.2(ANO5): c.242A> G (p.Asp81Gly) single nucleotide variant Likely pathogenic rs199501657 GRCh38 Chromosome 11, 22221158: 22221158
46 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic rs398124625 GRCh37 Chromosome 11, 22225349: 22225349
47 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic rs398124625 GRCh38 Chromosome 11, 22203803: 22203803
48 ANO5 NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs) duplication Pathogenic rs398124626 GRCh37 Chromosome 11, 22271893: 22271893
49 ANO5 NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs) duplication Pathogenic rs398124626 GRCh38 Chromosome 11, 22250347: 22250347
50 ANO5 NM_213599.2(ANO5): c.2259A> G (p.Ser753=) single nucleotide variant Conflicting interpretations of pathogenicity rs61746201 GRCh37 Chromosome 11, 22296138: 22296138

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

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