MCID: CNG429
MIFTS: 27

Congenital Myasthenic Syndromes with Glycosylation Defect

Categories: Eye diseases, Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Myasthenic Syndromes with Glycosylation Defect

MalaCards integrated aliases for Congenital Myasthenic Syndromes with Glycosylation Defect:

Name: Congenital Myasthenic Syndromes with Glycosylation Defect 60

Characteristics:

Orphanet epidemiological data:

60
congenital myasthenic syndromes with glycosylation defect
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Congenital Myasthenic Syndromes with Glycosylation Defect

MalaCards based summary : Congenital Myasthenic Syndromes with Glycosylation Defect is related to epileptic encephalopathy, early infantile, 36 and walker-warburg syndrome. An important gene associated with Congenital Myasthenic Syndromes with Glycosylation Defect is GMPPB (GDP-Mannose Pyrophosphorylase B), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include eye, and related phenotypes are high palate and pes planus

Related Diseases for Congenital Myasthenic Syndromes with Glycosylation Defect

Diseases related to Congenital Myasthenic Syndromes with Glycosylation Defect via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 36 9.7 ALG2 DPAGT1
2 walker-warburg syndrome 9.7 ALG2 GMPPB
3 myopathy, tubular aggregate, 1 9.6 DPAGT1 GFPT1
4 congenital disorder of glycosylation, type in 9.6 ALG2 DPAGT1
5 congenital myasthenic syndrome 8.8 ALG14 ALG2 DPAGT1 GFPT1 GMPPB

Graphical network of the top 20 diseases related to Congenital Myasthenic Syndromes with Glycosylation Defect:



Diseases related to Congenital Myasthenic Syndromes with Glycosylation Defect

Symptoms & Phenotypes for Congenital Myasthenic Syndromes with Glycosylation Defect

Human phenotypes related to Congenital Myasthenic Syndromes with Glycosylation Defect:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
2 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
3 myopathy 60 33 frequent (33%) Frequent (79-30%) HP:0003198
4 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
5 areflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001284
6 limb-girdle muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003325
7 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
8 fatigable weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003473
9 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 60 33 frequent (33%) Frequent (79-30%) HP:0003403
10 muscle fiber tubular inclusions 60 33 frequent (33%) Frequent (79-30%) HP:0100301
11 favorable response of weakness to acetylcholine esterase inhibitors 60 33 frequent (33%) Frequent (79-30%) HP:0030202
12 increased jitter at single fibre emg 60 33 frequent (33%) Frequent (79-30%) HP:0030205
13 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
14 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
15 facial palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0010628
16 waddling gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0002515
17 scapular winging 60 33 occasional (7.5%) Occasional (29-5%) HP:0003691
18 ragged-red muscle fibers 60 33 occasional (7.5%) Occasional (29-5%) HP:0003200
19 joint laxity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001388
20 easy fatigability 60 33 occasional (7.5%) Occasional (29-5%) HP:0003388
21 type 1 muscle fiber predominance 60 33 occasional (7.5%) Occasional (29-5%) HP:0003803
22 difficulty walking 60 33 occasional (7.5%) Occasional (29-5%) HP:0002355
23 frequent falls 60 33 occasional (7.5%) Occasional (29-5%) HP:0002359
24 gowers sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0003391
25 difficulty climbing stairs 60 33 occasional (7.5%) Occasional (29-5%) HP:0003551
26 difficulty running 60 33 occasional (7.5%) Occasional (29-5%) HP:0009046
27 knee flexion contracture 60 33 occasional (7.5%) Occasional (29-5%) HP:0006380
28 lumbar hyperlordosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002938
29 poor head control 60 33 occasional (7.5%) Occasional (29-5%) HP:0002421
30 generalized weakness of limb muscles 60 33 occasional (7.5%) Occasional (29-5%) HP:0009028
31 elevated serum creatine kinase 33 occasional (7.5%) HP:0003236
32 muscle spasm 33 occasional (7.5%) HP:0003394
33 distal muscle weakness 60 33 very rare (1%) Very rare (<4-1%) HP:0002460
34 flexion contracture 60 Occasional (29-5%)
35 elevated serum creatine phosphokinase 60 Occasional (29-5%)
36 muscle cramps 60 Occasional (29-5%)
37 proximal muscle weakness 60 Frequent (79-30%)
38 abnormal peripheral nervous system synaptic transmission 60 Frequent (79-30%)

GenomeRNAi Phenotypes related to Congenital Myasthenic Syndromes with Glycosylation Defect according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with Ras GR00018-A-0 8.8 ALG2 DPAGT1 GMPPB

Drugs & Therapeutics for Congenital Myasthenic Syndromes with Glycosylation Defect

Search Clinical Trials , NIH Clinical Center for Congenital Myasthenic Syndromes with Glycosylation Defect

Genetic Tests for Congenital Myasthenic Syndromes with Glycosylation Defect

Anatomical Context for Congenital Myasthenic Syndromes with Glycosylation Defect

MalaCards organs/tissues related to Congenital Myasthenic Syndromes with Glycosylation Defect:

42
Eye

Publications for Congenital Myasthenic Syndromes with Glycosylation Defect

Variations for Congenital Myasthenic Syndromes with Glycosylation Defect

Expression for Congenital Myasthenic Syndromes with Glycosylation Defect

Search GEO for disease gene expression data for Congenital Myasthenic Syndromes with Glycosylation Defect.

Pathways for Congenital Myasthenic Syndromes with Glycosylation Defect

Pathways related to Congenital Myasthenic Syndromes with Glycosylation Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 ALG14 ALG2 DPAGT1 GFPT1 GMPPB
2
Show member pathways
13.08 ALG14 ALG2 DPAGT1 GFPT1 GMPPB
3
Show member pathways
12.24 ALG14 ALG2 DPAGT1 GFPT1 GMPPB
4
Show member pathways
11.31 ALG14 ALG2 DPAGT1 GFPT1 GMPPB
5
Show member pathways
11.21 GFPT1 GMPPB
6
Show member pathways
11.12 ALG14 ALG2 DPAGT1

GO Terms for Congenital Myasthenic Syndromes with Glycosylation Defect

Cellular components related to Congenital Myasthenic Syndromes with Glycosylation Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 8.8 ALG14 ALG2 DPAGT1

Biological processes related to Congenital Myasthenic Syndromes with Glycosylation Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.26 ALG2 DPAGT1
2 protein N-linked glycosylation GO:0006487 9.16 DPAGT1 GFPT1
3 UDP-N-acetylglucosamine metabolic process GO:0006047 8.96 DPAGT1 GFPT1
4 dolichol-linked oligosaccharide biosynthetic process GO:0006488 8.8 ALG14 ALG2 DPAGT1

Molecular functions related to Congenital Myasthenic Syndromes with Glycosylation Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.96 ALG2 DPAGT1
2 transferase activity GO:0016740 8.92 ALG2 DPAGT1 GFPT1 GMPPB

Sources for Congenital Myasthenic Syndromes with Glycosylation Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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