LGMD2L
MCID: MSC181
MIFTS: 31

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 (LGMD2L)

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 57
Lgmd2l 57 53 59 75
Muscular Dystrophy, Limb-Girdle, Type 2l 57 53 13
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 53 59
Limb-Girdle Muscular Dystrophy, Type 2l 29 6
Muscular Dystrophy, Limb-Girdle, Type 2l; Lgmd2l 57
Dystrophy, Muscular, Limb-Girdle, Type 2l 40
Limb-Girdle Muscular Dystrophy Type 2l 53
Limb-Girdle Muscular Dystrophy 2l 75
Lgmdr12 57

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2l
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
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:

32
muscular dystrophy, limb-girdle, autosomal recessive 12:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 611307
Orphanet 59 ORPHA206549
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C1969785
MedGen 42 C1969785
MeSH 44 D049288

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

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2L: 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 lgmd2l, 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 facial palsy and elevated serum creatine phosphokinase

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 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 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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial palsy 59 32 Occasional (29-5%) HP:0010628
2 elevated serum creatine phosphokinase 59 32 frequent (33%) Frequent (79-30%) HP:0003236
3 myalgia 59 32 Very frequent (99-80%) HP:0003326
4 calf muscle hypertrophy 59 32 Occasional (29-5%) HP:0008981
5 flexion contracture 59 Occasional (29-5%)
6 genu recurvatum 59 Frequent (79-30%)
7 cardiomyopathy 59 Occasional (29-5%)
8 limb-girdle muscular dystrophy 59 Very frequent (99-80%)
9 elbow flexion contracture 59 Occasional (29-5%)
10 emg: myopathic abnormalities 59 Frequent (79-30%)
11 scapular winging 59 Occasional (29-5%)
12 proximal muscle weakness in lower limbs 59 Very frequent (99-80%)
13 proximal muscle weakness in upper limbs 59 Frequent (79-30%)
14 pelvic girdle muscle weakness 32 HP:0003749
15 proximal muscle weakness 32 HP:0003701
16 wrist flexion contracture 59 Occasional (29-5%)
17 abnormality of muscle fibers 59 Frequent (79-30%)
18 muscular dystrophy 32 HP:0003560
19 increased connective tissue 32 HP:0009025
20 muscle fiber atrophy 59 Frequent (79-30%)
21 increased variability in muscle fiber diameter 59 Frequent (79-30%)
22 distal lower limb muscle weakness 59 Very frequent (99-80%)
23 ankle contracture 59 Occasional (29-5%)
24 exercise-induced myalgia 59 Frequent (79-30%)
25 flexion contracture of finger 59 Occasional (29-5%)
26 muscle fiber splitting 59 Frequent (79-30%)
27 internally nucleated skeletal muscle fibers 59 Frequent (79-30%)
28 myoglobinuria 59 Occasional (29-5%)
29 increased endomysial connective tissue 59 Frequent (79-30%)
30 lower limb amyotrophy 59 Frequent (79-30%)
31 quadriceps muscle atrophy 59 Frequent (79-30%)
32 hamstring contractures 59 Occasional (29-5%)
33 emg: neuropathic changes 59 Frequent (79-30%)
34 shoulder girdle muscle weakness 32 HP:0003547
35 upper limb amyotrophy 59 Occasional (29-5%)
36 abnormality of the calf musculature 59 Frequent (79-30%)
37 emg: axonal abnormality 59 Frequent (79-30%)
38 emg: myotonic runs 59 Frequent (79-30%)
39 pelvic girdle muscle atrophy 59 Frequent (79-30%)
40 fatty replacement of skeletal muscle 59 Frequent (79-30%)
41 emg 32 HP:0003458

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 29 ANO5

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

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

41
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
A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide. ( 29665321 )
2018
2
Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy. ( 24843231 )
2014
3
Macular dystrophy presenting in one of two siblings with limb-girdle muscular dystrophy type 2L due to mutation of ANO5. ( 24232312 )
2014
4
Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy. ( 25291917 )
2014
5
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 288)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANO5 NM_213599.2(ANO5): c.1295C> G (p.Ala432Gly) single nucleotide variant Pathogenic rs137854524 GRCh37 Chromosome 11, 22277031: 22277031
2 ANO5 NM_213599.2(ANO5): c.1295C> G (p.Ala432Gly) single nucleotide variant Pathogenic rs137854524 GRCh38 Chromosome 11, 22255485: 22255485
3 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic rs137854521 GRCh37 Chromosome 11, 22242653: 22242653
4 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic rs137854521 GRCh38 Chromosome 11, 22221107: 22221107
5 ANO5 NM_213599.2(ANO5): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854523 GRCh37 Chromosome 11, 22257752: 22257752
6 ANO5 NM_213599.2(ANO5): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854523 GRCh38 Chromosome 11, 22236206: 22236206
7 ANO5 NM_213599.2(ANO5): c.2272C> T (p.Arg758Cys) single nucleotide variant Pathogenic rs137854529 GRCh37 Chromosome 11, 22296151: 22296151
8 ANO5 NM_213599.2(ANO5): c.2272C> T (p.Arg758Cys) single nucleotide variant Pathogenic rs137854529 GRCh38 Chromosome 11, 22274605: 22274605
9 ANO5 NM_213599.2(ANO5): c.1407+5G> A single nucleotide variant Pathogenic rs281865464 GRCh37 Chromosome 11, 22279305: 22279305
10 ANO5 NM_213599.2(ANO5): c.1407+5G> A single nucleotide variant Pathogenic rs281865464 GRCh38 Chromosome 11, 22257759: 22257759
11 ANO5 NM_213599.2(ANO5): c.2311_2312delCA (p.Gln771Alafs) deletion Pathogenic rs137854528 GRCh37 Chromosome 11, 22296190: 22296191
12 ANO5 NM_213599.2(ANO5): c.2311_2312delCA (p.Gln771Alafs) deletion Pathogenic rs137854528 GRCh38 Chromosome 11, 22274644: 22274645
13 ANO5 ANO5, IVS14DS, G-A, +5 single nucleotide variant Pathogenic
14 ANO5 NM_213599.2(ANO5): c.1029C> T (p.Asp343=) single nucleotide variant Conflicting interpretations of pathogenicity rs78899595 GRCh37 Chromosome 11, 22272302: 22272302
15 ANO5 NM_213599.2(ANO5): c.1029C> T (p.Asp343=) single nucleotide variant Conflicting interpretations of pathogenicity rs78899595 GRCh38 Chromosome 11, 22250756: 22250756
16 ANO5 NM_213599.2(ANO5): c.242A> G (p.Asp81Gly) single nucleotide variant Likely pathogenic rs199501657 GRCh37 Chromosome 11, 22242704: 22242704
17 ANO5 NM_213599.2(ANO5): c.242A> G (p.Asp81Gly) single nucleotide variant Likely pathogenic rs199501657 GRCh38 Chromosome 11, 22221158: 22221158
18 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic rs398124625 GRCh37 Chromosome 11, 22225349: 22225349
19 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic rs398124625 GRCh38 Chromosome 11, 22203803: 22203803
20 ANO5 NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs) duplication Pathogenic rs398124626 GRCh37 Chromosome 11, 22271893: 22271893
21 ANO5 NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs) duplication Pathogenic rs398124626 GRCh38 Chromosome 11, 22250347: 22250347
22 ANO5 NM_213599.2(ANO5): c.2259A> G (p.Ser753=) single nucleotide variant Conflicting interpretations of pathogenicity rs61746201 GRCh37 Chromosome 11, 22296138: 22296138
23 ANO5 NM_213599.2(ANO5): c.2259A> G (p.Ser753=) single nucleotide variant Conflicting interpretations of pathogenicity rs61746201 GRCh38 Chromosome 11, 22274592: 22274592
24 ANO5 NM_213599.2(ANO5): c.2646C> G (p.Asn882Lys) single nucleotide variant Benign/Likely benign rs34969327 GRCh37 Chromosome 11, 22301215: 22301215
25 ANO5 NM_213599.2(ANO5): c.2646C> G (p.Asn882Lys) single nucleotide variant Benign/Likely benign rs34969327 GRCh38 Chromosome 11, 22279669: 22279669
26 ANO5 NM_213599.2(ANO5): c.616A> G (p.Thr206Ala) single nucleotide variant Benign rs78266558 GRCh37 Chromosome 11, 22249100: 22249100
27 ANO5 NM_213599.2(ANO5): c.616A> G (p.Thr206Ala) single nucleotide variant Benign rs78266558 GRCh38 Chromosome 11, 22227554: 22227554
28 ANO5 NM_213599.2(ANO5): c.1095A> G (p.Leu365=) single nucleotide variant Benign/Likely benign rs35804601 GRCh38 Chromosome 11, 22250822: 22250822
29 ANO5 NM_213599.2(ANO5): c.1095A> G (p.Leu365=) single nucleotide variant Benign/Likely benign rs35804601 GRCh37 Chromosome 11, 22272368: 22272368
30 ANO5 NM_213599.2(ANO5): c.1545A> G (p.Ser515=) single nucleotide variant Benign/Likely benign rs35843353 GRCh37 Chromosome 11, 22281202: 22281202
31 ANO5 NM_213599.2(ANO5): c.1545A> G (p.Ser515=) single nucleotide variant Benign/Likely benign rs35843353 GRCh38 Chromosome 11, 22259656: 22259656
32 ANO5 NM_213599.2(ANO5): c.1733T> C (p.Phe578Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137854526 GRCh38 Chromosome 11, 22262231: 22262231
33 ANO5 NM_213599.2(ANO5): c.1733T> C (p.Phe578Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137854526 GRCh37 Chromosome 11, 22283777: 22283777
34 ANO5 NM_213599.2(ANO5): c.2018A> G (p.Tyr673Cys) single nucleotide variant Pathogenic rs137854527 GRCh38 Chromosome 11, 22270431: 22270431
35 ANO5 NM_213599.2(ANO5): c.2018A> G (p.Tyr673Cys) single nucleotide variant Pathogenic rs137854527 GRCh37 Chromosome 11, 22291977: 22291977
36 ANO5 NM_213599.2(ANO5): c.1520delT (p.Phe507Serfs) deletion Pathogenic rs794727158 GRCh37 Chromosome 11, 22281177: 22281177
37 ANO5 NM_213599.2(ANO5): c.1520delT (p.Phe507Serfs) deletion Pathogenic rs794727158 GRCh38 Chromosome 11, 22259631: 22259631
38 ANO5 NM_213599.2(ANO5): c.1709C> G (p.Ser570Ter) single nucleotide variant Pathogenic rs765262083 GRCh37 Chromosome 11, 22283753: 22283753
39 ANO5 NM_213599.2(ANO5): c.1709C> G (p.Ser570Ter) single nucleotide variant Pathogenic rs765262083 GRCh38 Chromosome 11, 22262207: 22262207
40 ANO5 NM_213599.2(ANO5): c.1898+1G> A single nucleotide variant Pathogenic rs142027093 GRCh37 Chromosome 11, 22284590: 22284590
41 ANO5 NM_213599.2(ANO5): c.1898+1G> A single nucleotide variant Pathogenic rs142027093 GRCh38 Chromosome 11, 22263044: 22263044
42 ANO5 NM_213599.2(ANO5): c.2172_2178delTCATAGC (p.His725Terfs) deletion Pathogenic rs794727231 GRCh37 Chromosome 11, 22294472: 22294478
43 ANO5 NM_213599.2(ANO5): c.2172_2178delTCATAGC (p.His725Terfs) deletion Pathogenic rs794727231 GRCh38 Chromosome 11, 22272926: 22272932
44 ANO5 NM_213599.2(ANO5): c.2176dupA (p.Ser726Lysfs) duplication Pathogenic rs797044667 GRCh37 Chromosome 11, 22294476: 22294476
45 ANO5 NM_213599.2(ANO5): c.2176dupA (p.Ser726Lysfs) duplication Pathogenic rs797044667 GRCh38 Chromosome 11, 22272930: 22272930
46 ANO5 NM_213599.2(ANO5): c.2141C> G (p.Thr714Ser) single nucleotide variant Uncertain significance rs200631556 GRCh37 Chromosome 11, 22294441: 22294441
47 ANO5 NM_213599.2(ANO5): c.2141C> G (p.Thr714Ser) single nucleotide variant Uncertain significance rs200631556 GRCh38 Chromosome 11, 22272895: 22272895
48 ANO5 NM_213599.2(ANO5): c.2387C> T (p.Ser796Leu) single nucleotide variant Benign/Likely benign rs61910685 GRCh37 Chromosome 11, 22296266: 22296266
49 ANO5 NM_213599.2(ANO5): c.2387C> T (p.Ser796Leu) single nucleotide variant Benign/Likely benign rs61910685 GRCh38 Chromosome 11, 22274720: 22274720
50 ANO5 NM_213599.2(ANO5): c.2503_2505delTTC (p.Phe835del) deletion Conflicting interpretations of pathogenicity rs794727350 GRCh37 Chromosome 11, 22297728: 22297730

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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