LGMDR18
MCID: MSC184
MIFTS: 31

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 (LGMDR18)

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 58 76
Lgmd2s 58 60 76
Muscular Dystrophy, Limb-Girdle, Type 2s 58 76
Lgmdr18 58 76
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 60
Muscular Dystrophy, Limb-Girdle, Type 2s; Lgmd2s 58
Limb-Girdle Muscular Dystrophy 2s 76

Characteristics:

Orphanet epidemiological data:

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

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in infancy or early childhood


HPO:

33
muscular dystrophy, limb-girdle, autosomal recessive 18:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


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

OMIM : 58 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 1 and muscular dystrophy, limb-girdle, autosomal recessive 2. 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 hepatomegaly and hepatic steatosis

UniProtKB/Swiss-Prot : 76 Muscular dystrophy, limb-girdle, autosomal recessive 18: 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 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 18 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 1 11.7
2 muscular dystrophy, limb-girdle, autosomal recessive 2 11.7
3 autosomal recessive limb-girdle muscular dystrophy 10.2
4 muscular dystrophy 10.2
5 limb-girdle muscular dystrophy 10.2
6 walker-warburg syndrome 10.1

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

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

60 33 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 60 33 occasional (7.5%) Frequent (79-30%) HP:0002240
2 hepatic steatosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001397
3 seizures 33 occasional (7.5%) HP:0001250
4 achalasia 33 occasional (7.5%) HP:0002571
5 cerebellar atrophy 33 occasional (7.5%) HP:0001272
6 alacrima 33 occasional (7.5%) HP:0000522
7 cns hypomyelination 33 occasional (7.5%) HP:0003429
8 elevated hepatic transaminase 33 occasional (7.5%) HP:0002910
9 eeg abnormality 33 very rare (1%) HP:0002353
10 esophagitis 33 very rare (1%) HP:0100633
11 cerebral atrophy 33 very rare (1%) HP:0002059
12 chorea 60 33 Occasional (29-5%) HP:0002072
13 hyperlordosis 60 33 Frequent (79-30%) HP:0003307
14 cataract 60 33 Frequent (79-30%) HP:0000518
15 microcephaly 60 33 Occasional (29-5%) HP:0000252
16 limb-girdle muscular dystrophy 60 33 Frequent (79-30%) HP:0006785
17 waddling gait 60 33 Frequent (79-30%) HP:0002515
18 myalgia 60 33 Frequent (79-30%) HP:0003326
19 difficulty walking 60 33 Frequent (79-30%) HP:0002355
20 intellectual disability 33 HP:0001249
21 ataxia 33 HP:0001251
22 dysarthria 33 HP:0001260
23 tremor 33 HP:0001337
24 scoliosis 33 HP:0002650
25 global developmental delay 33 HP:0001263
26 hip dysplasia 33 HP:0001385
27 short stature 33 HP:0004322
28 myopathy 60 Frequent (79-30%)
29 feeding difficulties 33 HP:0011968
30 strabismus 33 HP:0000486
31 absent speech 60 Frequent (79-30%)
32 intrauterine growth retardation 33 HP:0001511
33 elevated hepatic transaminases 60 Frequent (79-30%)
34 myopia 33 HP:0000545
35 dystonia 33 HP:0001332
36 inability to walk 33 HP:0002540
37 generalized tonic-clonic seizures 60 Occasional (29-5%)
38 abnormal levels of creatine kinase in blood 60 Frequent (79-30%)
39 muscle cramps 60 Frequent (79-30%)
40 hyporeflexia 60 Frequent (79-30%)
41 truncal ataxia 60 Occasional (29-5%)
42 proximal muscle weakness 60 Frequent (79-30%)
43 muscular dystrophy 60 Frequent (79-30%)
44 muscle fiber atrophy 60 Frequent (79-30%)
45 generalized hypotonia 33 HP:0001290
46 intellectual disability, borderline 60 Frequent (79-30%)
47 gowers sign 33 HP:0003391
48 athetosis 33 HP:0002305
49 restrictive ventilatory defect 60 Excluded (0%)
50 speech apraxia 33 HP:0011098

Symptoms via clinical synopsis from OMIM:

58
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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search 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:

42
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:

76
# 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 178)
# 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 GRCh37 Chromosome 4, 184600605: 184600605
30 TRAPPC11 NM_021942.5(TRAPPC11): c.931C> G (p.Leu311Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148833310 GRCh38 Chromosome 4, 183679452: 183679452
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 GRCh37 Chromosome 4, 184612476: 184612476
34 TRAPPC11 NM_021942.5(TRAPPC11): c.1901A> G (p.Asn634Ser) single nucleotide variant Uncertain significance rs148567547 GRCh38 Chromosome 4, 183691323: 183691323
35 TRAPPC11 NM_021942.5(TRAPPC11): c.2147C> G (p.Ala716Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143990563 GRCh37 Chromosome 4, 184614210: 184614210
36 TRAPPC11 NM_021942.5(TRAPPC11): c.2147C> G (p.Ala716Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143990563 GRCh38 Chromosome 4, 183693057: 183693057
37 TRAPPC11 NM_021942.5(TRAPPC11): c.3092C> G (p.Pro1031Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200466260 GRCh37 Chromosome 4, 184627996: 184627996
38 TRAPPC11 NM_021942.5(TRAPPC11): c.3092C> G (p.Pro1031Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200466260 GRCh38 Chromosome 4, 183706843: 183706843
39 TRAPPC11 NM_021942.5(TRAPPC11): c.3194G> A (p.Arg1065Gln) single nucleotide variant Uncertain significance rs567387885 GRCh38 Chromosome 4, 183708411: 183708411
40 TRAPPC11 NM_021942.5(TRAPPC11): c.3194G> A (p.Arg1065Gln) single nucleotide variant Uncertain significance rs567387885 GRCh37 Chromosome 4, 184629564: 184629564
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.675G> A (p.Arg225=) single nucleotide variant Benign rs73872657 GRCh37 Chromosome 4, 184596331: 184596331
44 TRAPPC11 NM_021942.5(TRAPPC11): c.2694+1G> T single nucleotide variant Likely pathogenic rs1186858080 GRCh37 Chromosome 4, 184618722: 184618722
45 TRAPPC11 NM_021942.5(TRAPPC11): c.66A> G (p.Leu22=) single nucleotide variant Likely benign rs776826270 GRCh37 Chromosome 4, 184585086: 184585086
46 TRAPPC11 NM_021942.5(TRAPPC11): c.66A> G (p.Leu22=) single nucleotide variant Likely benign rs776826270 GRCh38 Chromosome 4, 183663933: 183663933
47 TRAPPC11 NM_021942.5(TRAPPC11): c.270G> C (p.Leu90=) single nucleotide variant Benign rs60142264 GRCh38 Chromosome 4, 183666322: 183666322
48 TRAPPC11 NM_021942.5(TRAPPC11): c.270G> C (p.Leu90=) single nucleotide variant Benign rs60142264 GRCh37 Chromosome 4, 184587475: 184587475
49 TRAPPC11 NM_021942.5(TRAPPC11): c.675G> A (p.Arg225=) single nucleotide variant Benign rs73872657 GRCh38 Chromosome 4, 183675178: 183675178
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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