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 59

Characteristics:

Orphanet epidemiological data:

59
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 ptosis

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 9.8 ALG2 DPAGT1
2 walker-warburg syndrome 9.8 ALG2 GMPPB
3 myopathy, tubular aggregate, 1 9.8 DPAGT1 GFPT1
4 congenital disorder of glycosylation, type in 9.8 ALG2 DPAGT1
5 congenital myasthenic syndrome 9.2 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:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
2 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
3 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
4 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
5 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
6 myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003198
7 elevated serum creatine phosphokinase 59 32 occasional (7.5%) Occasional (29-5%) HP:0003236
8 waddling gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002515
9 scapular winging 59 32 occasional (7.5%) Occasional (29-5%) HP:0003691
10 ragged-red muscle fibers 59 32 occasional (7.5%) Occasional (29-5%) HP:0003200
11 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
12 joint laxity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001388
13 easy fatigability 59 32 occasional (7.5%) Occasional (29-5%) HP:0003388
14 type 1 muscle fiber predominance 59 32 occasional (7.5%) Occasional (29-5%) HP:0003803
15 muscle cramps 59 32 occasional (7.5%) Occasional (29-5%) HP:0003394
16 areflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001284
17 difficulty walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0002355
18 limb-girdle muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003325
19 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
20 frequent falls 59 32 occasional (7.5%) Occasional (29-5%) HP:0002359
21 fatigable weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003473
22 gowers sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003391
23 difficulty climbing stairs 59 32 occasional (7.5%) Occasional (29-5%) HP:0003551
24 difficulty running 59 32 occasional (7.5%) Occasional (29-5%) HP:0009046
25 distal muscle weakness 59 32 very rare (1%) Very rare (<4-1%) HP:0002460
26 knee flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0006380
27 lumbar hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002938
28 poor head control 59 32 occasional (7.5%) Occasional (29-5%) HP:0002421
29 muscle fiber tubular inclusions 59 32 frequent (33%) Frequent (79-30%) HP:0100301
30 favorable response of weakness to acetylcholine esterase inhibitors 59 32 frequent (33%) Frequent (79-30%) HP:0030202
31 increased jitter at single fibre emg 59 32 frequent (33%) Frequent (79-30%) HP:0030205
32 generalized weakness of limb muscles 59 32 occasional (7.5%) Occasional (29-5%) HP:0009028
33 flexion contracture 59 Occasional (29-5%)
34 proximal muscle weakness 59 Frequent (79-30%)
35 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 59 Frequent (79-30%)
36 abnormal peripheral nervous system synaptic transmission 59 Frequent (79-30%)
37 emg 32 frequent (33%) HP:0003403

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

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# 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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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