LGMD2S
MCID: MSC184
MIFTS: 31

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 (LGMD2S)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 57
Lgmd2s 57 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 59
Muscular Dystrophy, Limb-Girdle, Type 2s; Lgmd2s 57
Muscular Dystrophy, Limb-Girdle, Type 2s 57
Limb-Girdle Muscular Dystrophy 2s 75
Lgmdr18 57

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in infancy or early childhood


HPO:

32
muscular dystrophy, limb-girdle, autosomal recessive 18:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

OMIM : 57 Autosomal recessive limb-girdle muscular dystrophy-18 is characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017). For discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). (615356)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18, also known as lgmd2s, is related to muscular dystrophy, limb-girdle, autosomal recessive 2 and myopathy, autosomal recessive, with rigid spine and distal joint contractures. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 is TRAPPC11 (Trafficking Protein Particle Complex 11). Affiliated tissues include liver and skeletal muscle, and related phenotypes are chorea and hyperlordosis

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2S: A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

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 18 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 2 11.7
2 myopathy, autosomal recessive, with rigid spine and distal joint contractures 11.7
3 muscular dystrophy, limb-girdle, autosomal recessive 1 11.3
4 autosomal recessive limb-girdle muscular dystrophy 10.2
5 muscular dystrophy 10.2
6 limb-girdle muscular dystrophy 10.2
7 walker-warburg syndrome 10.0

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
tremor
dystonia
more
Skeletal Pelvis:
hip dysplasia

Head And Neck Eyes:
strabismus
myopia
cataracts
alacrima (in some patients)

Muscle Soft Tissue:
muscle cramps
proximal muscle weakness
hypotonia
muscle pain
gower sign
more
Laboratory Abnormalities:
increased serum creatine kinase
abnormal liver enzymes (in some patients)

Abdomen Liver:
hepatomegaly (rare)
hepatic steatosis (rare)
liver fibrosis (rare)

Skeletal Spine:
scoliosis
lordosis

Growth Height:
short stature

Growth Other:
intrauterine growth retardation
poor overall growth

Abdomen Gastrointestinal:
poor feeding
achalasia (in some patients)
esophagitis (in some patients)

Head And Neck Head:
microcephaly (in some patients)


Clinical features from OMIM:

615356

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18:

59 32 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 59 32 Occasional (29-5%) HP:0002072
2 hyperlordosis 59 32 Frequent (79-30%) HP:0003307
3 cataract 59 32 Frequent (79-30%) HP:0000518
4 hepatomegaly 59 32 occasional (7.5%) Frequent (79-30%) HP:0002240
5 microcephaly 59 32 Occasional (29-5%) HP:0000252
6 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
7 limb-girdle muscular dystrophy 59 32 Frequent (79-30%) HP:0006785
8 waddling gait 59 32 Frequent (79-30%) HP:0002515
9 myalgia 59 32 Frequent (79-30%) HP:0003326
10 muscle cramps 59 32 Frequent (79-30%) HP:0003394
11 difficulty walking 59 32 Frequent (79-30%) HP:0002355
12 intellectual disability 32 HP:0001249
13 seizures 32 occasional (7.5%) HP:0001250
14 ataxia 32 HP:0001251
15 dysarthria 32 HP:0001260
16 tremor 32 HP:0001337
17 eeg abnormality 32 very rare (1%) HP:0002353
18 scoliosis 32 HP:0002650
19 global developmental delay 32 HP:0001263
20 hip dysplasia 32 HP:0001385
21 short stature 32 HP:0004322
22 myopathy 59 Frequent (79-30%)
23 elevated serum creatine phosphokinase 32 HP:0003236
24 feeding difficulties 32 HP:0011968
25 strabismus 32 HP:0000486
26 absent speech 59 Frequent (79-30%)
27 intrauterine growth retardation 32 HP:0001511
28 elevated hepatic transaminases 59 Frequent (79-30%)
29 myopia 32 HP:0000545
30 dystonia 32 HP:0001332
31 inability to walk 32 HP:0002540
32 generalized tonic-clonic seizures 59 Occasional (29-5%)
33 achalasia 32 occasional (7.5%) HP:0002571
34 esophagitis 32 very rare (1%) HP:0100633
35 hyporeflexia 59 Frequent (79-30%)
36 truncal ataxia 59 Occasional (29-5%)
37 proximal muscle weakness 59 Frequent (79-30%)
38 cerebellar atrophy 32 occasional (7.5%) HP:0001272
39 muscular dystrophy 59 Frequent (79-30%)
40 muscle fiber atrophy 59 Frequent (79-30%)
41 generalized hypotonia 32 HP:0001290
42 intellectual disability, borderline 59 Frequent (79-30%)
43 gowers sign 32 HP:0003391
44 cerebral atrophy 32 very rare (1%) HP:0002059
45 alacrima 32 occasional (7.5%) HP:0000522
46 athetosis 32 HP:0002305
47 restrictive ventilatory defect 59 Excluded (0%)
48 abnormal levels of creatine kinase in blood 59 Frequent (79-30%)
49 cns hypomyelination 32 occasional (7.5%) HP:0003429
50 speech apraxia 32 HP:0011098

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18:

41
Liver, Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18:

# Title Authors Year
1
Siblings With Mutations in TRAPPC11 Presenting With Limb-Girdle Muscular Dystrophy 2S. ( 28827486 )
2017

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18:

75
# Symbol AA change Variation ID SNP ID
1 TRAPPC11 p.Gly980Arg VAR_070158 rs397509417

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18:

6 (show top 50) (show all 176)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRAPPC11 NM_199053.2(TRAPPC11): c.2938G> A (p.Gly980Arg) single nucleotide variant Pathogenic rs397509417 GRCh37 Chromosome 4, 184622936: 184622936
2 TRAPPC11 NM_199053.2(TRAPPC11): c.2938G> A (p.Gly980Arg) single nucleotide variant Pathogenic rs397509417 GRCh38 Chromosome 4, 183701783: 183701783
3 TRAPPC11 NM_021942.5(TRAPPC11): c.1287+5G> A single nucleotide variant Pathogenic rs397509418 GRCh37 Chromosome 4, 184605212: 184605212
4 TRAPPC11 NM_021942.5(TRAPPC11): c.1287+5G> A single nucleotide variant Pathogenic rs397509418 GRCh38 Chromosome 4, 183684059: 183684059
5 TRAPPC11 NM_021942.5(TRAPPC11): c.117C> G (p.Ala39=) single nucleotide variant Benign rs145842147 GRCh38 Chromosome 4, 183663984: 183663984
6 TRAPPC11 NM_021942.5(TRAPPC11): c.117C> G (p.Ala39=) single nucleotide variant Benign rs145842147 GRCh37 Chromosome 4, 184585137: 184585137
7 TRAPPC11 NM_021942.5(TRAPPC11): c.145G> C (p.Val49Leu) single nucleotide variant Benign rs141909783 GRCh37 Chromosome 4, 184585165: 184585165
8 TRAPPC11 NM_021942.5(TRAPPC11): c.145G> C (p.Val49Leu) single nucleotide variant Benign rs141909783 GRCh38 Chromosome 4, 183664012: 183664012
9 TRAPPC11 NM_021942.5(TRAPPC11): c.219G> C (p.Glu73Asp) single nucleotide variant Benign/Likely benign rs138760818 GRCh37 Chromosome 4, 184587424: 184587424
10 TRAPPC11 NM_021942.5(TRAPPC11): c.219G> C (p.Glu73Asp) single nucleotide variant Benign/Likely benign rs138760818 GRCh38 Chromosome 4, 183666271: 183666271
11 TRAPPC11 NM_021942.5(TRAPPC11): c.282A> C (p.Pro94=) single nucleotide variant Likely benign rs148105529 GRCh37 Chromosome 4, 184587487: 184587487
12 TRAPPC11 NM_021942.5(TRAPPC11): c.282A> C (p.Pro94=) single nucleotide variant Likely benign rs148105529 GRCh38 Chromosome 4, 183666334: 183666334
13 TRAPPC11 NM_021942.5(TRAPPC11): c.2388A> C (p.Gly796=) single nucleotide variant Benign/Likely benign rs151021715 GRCh37 Chromosome 4, 184615071: 184615071
14 TRAPPC11 NM_021942.5(TRAPPC11): c.2388A> C (p.Gly796=) single nucleotide variant Benign/Likely benign rs151021715 GRCh38 Chromosome 4, 183693918: 183693918
15 TRAPPC11 NM_021942.5(TRAPPC11): c.2461G> A (p.Ala821Thr) single nucleotide variant Benign/Likely benign rs114471872 GRCh38 Chromosome 4, 183693991: 183693991
16 TRAPPC11 NM_021942.5(TRAPPC11): c.2461G> A (p.Ala821Thr) single nucleotide variant Benign/Likely benign rs114471872 GRCh37 Chromosome 4, 184615144: 184615144
17 TRAPPC11 NM_021942.5(TRAPPC11): c.2483T> C (p.Val828Ala) single nucleotide variant Benign rs75176151 GRCh37 Chromosome 4, 184615166: 184615166
18 TRAPPC11 NM_021942.5(TRAPPC11): c.2483T> C (p.Val828Ala) single nucleotide variant Benign rs75176151 GRCh38 Chromosome 4, 183694013: 183694013
19 TRAPPC11 NM_021942.5(TRAPPC11): c.3019G> A (p.Val1007Met) single nucleotide variant Benign/Likely benign rs79804817 GRCh37 Chromosome 4, 184626187: 184626187
20 TRAPPC11 NM_021942.5(TRAPPC11): c.3019G> A (p.Val1007Met) single nucleotide variant Benign/Likely benign rs79804817 GRCh38 Chromosome 4, 183705034: 183705034
21 TRAPPC11 NM_021942.5(TRAPPC11): c.661-1G> T single nucleotide variant Pathogenic rs886041052 GRCh38 Chromosome 4, 183675163: 183675163
22 TRAPPC11 NM_021942.5(TRAPPC11): c.661-1G> T single nucleotide variant Pathogenic rs886041052 GRCh37 Chromosome 4, 184596316: 184596316
23 TRAPPC11 NM_021942.5(TRAPPC11): c.1893+3A> G single nucleotide variant Pathogenic rs886041053 GRCh38 Chromosome 4, 183686751: 183686751
24 TRAPPC11 NM_021942.5(TRAPPC11): c.1893+3A> G single nucleotide variant Pathogenic rs886041053 GRCh37 Chromosome 4, 184607904: 184607904
25 TRAPPC11 NM_199053.2(TRAPPC11): c.142C> T (p.Arg48Ter) single nucleotide variant Pathogenic rs150331292 GRCh37 Chromosome 4, 184585162: 184585162
26 TRAPPC11 NM_199053.2(TRAPPC11): c.142C> T (p.Arg48Ter) single nucleotide variant Pathogenic rs150331292 GRCh38 Chromosome 4, 183664009: 183664009
27 TRAPPC11 NM_021942.5(TRAPPC11): c.832-9A> G single nucleotide variant Benign rs114748616 GRCh37 Chromosome 4, 184600497: 184600497
28 TRAPPC11 NM_021942.5(TRAPPC11): c.832-9A> G single nucleotide variant Benign rs114748616 GRCh38 Chromosome 4, 183679344: 183679344
29 TRAPPC11 NM_021942.5(TRAPPC11): c.931C> G (p.Leu311Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148833310 GRCh38 Chromosome 4, 183679452: 183679452
30 TRAPPC11 NM_021942.5(TRAPPC11): c.931C> G (p.Leu311Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148833310 GRCh37 Chromosome 4, 184600605: 184600605
31 TRAPPC11 NM_021942.5(TRAPPC11): c.1894-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs111381550 GRCh37 Chromosome 4, 184612459: 184612459
32 TRAPPC11 NM_021942.5(TRAPPC11): c.1894-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs111381550 GRCh38 Chromosome 4, 183691306: 183691306
33 TRAPPC11 NM_021942.5(TRAPPC11): c.1901A> G (p.Asn634Ser) single nucleotide variant Uncertain significance rs148567547 GRCh38 Chromosome 4, 183691323: 183691323
34 TRAPPC11 NM_021942.5(TRAPPC11): c.1901A> G (p.Asn634Ser) single nucleotide variant Uncertain significance rs148567547 GRCh37 Chromosome 4, 184612476: 184612476
35 TRAPPC11 NM_021942.5(TRAPPC11): c.2147C> G (p.Ala716Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143990563 GRCh38 Chromosome 4, 183693057: 183693057
36 TRAPPC11 NM_021942.5(TRAPPC11): c.2147C> G (p.Ala716Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143990563 GRCh37 Chromosome 4, 184614210: 184614210
37 TRAPPC11 NM_021942.5(TRAPPC11): c.3092C> G (p.Pro1031Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200466260 GRCh38 Chromosome 4, 183706843: 183706843
38 TRAPPC11 NM_021942.5(TRAPPC11): c.3092C> G (p.Pro1031Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200466260 GRCh37 Chromosome 4, 184627996: 184627996
39 TRAPPC11 NM_021942.5(TRAPPC11): c.3194G> A (p.Arg1065Gln) single nucleotide variant Uncertain significance rs567387885 GRCh37 Chromosome 4, 184629564: 184629564
40 TRAPPC11 NM_021942.5(TRAPPC11): c.3194G> A (p.Arg1065Gln) single nucleotide variant Uncertain significance rs567387885 GRCh38 Chromosome 4, 183708411: 183708411
41 TRAPPC11 NM_021942.5(TRAPPC11): c.3273A> G (p.Pro1091=) single nucleotide variant Benign/Likely benign rs113269326 GRCh37 Chromosome 4, 184629643: 184629643
42 TRAPPC11 NM_021942.5(TRAPPC11): c.3273A> G (p.Pro1091=) single nucleotide variant Benign/Likely benign rs113269326 GRCh38 Chromosome 4, 183708490: 183708490
43 TRAPPC11 NM_021942.5(TRAPPC11): c.66A> G (p.Leu22=) single nucleotide variant Likely benign rs776826270 GRCh37 Chromosome 4, 184585086: 184585086
44 TRAPPC11 NM_021942.5(TRAPPC11): c.66A> G (p.Leu22=) single nucleotide variant Likely benign rs776826270 GRCh38 Chromosome 4, 183663933: 183663933
45 TRAPPC11 NM_021942.5(TRAPPC11): c.270G> C (p.Leu90=) single nucleotide variant Benign rs60142264 GRCh37 Chromosome 4, 184587475: 184587475
46 TRAPPC11 NM_021942.5(TRAPPC11): c.270G> C (p.Leu90=) single nucleotide variant Benign rs60142264 GRCh38 Chromosome 4, 183666322: 183666322
47 TRAPPC11 NM_021942.5(TRAPPC11): c.675G> A (p.Arg225=) single nucleotide variant Benign rs73872657 GRCh37 Chromosome 4, 184596331: 184596331
48 TRAPPC11 NM_021942.5(TRAPPC11): c.675G> A (p.Arg225=) single nucleotide variant Benign rs73872657 GRCh38 Chromosome 4, 183675178: 183675178
49 TRAPPC11 NM_021942.5(TRAPPC11): c.1133A> G (p.Asn378Ser) single nucleotide variant Uncertain significance rs780991425 GRCh37 Chromosome 4, 184603904: 184603904
50 TRAPPC11 NM_021942.5(TRAPPC11): c.1133A> G (p.Asn378Ser) single nucleotide variant Uncertain significance rs780991425 GRCh38 Chromosome 4, 183682751: 183682751

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

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Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

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