MCID: CNG429
MIFTS: 15

Congenital Myasthenic Syndromes with Glycosylation Defect malady

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

Aliases & Classifications for Congenital Myasthenic Syndromes with Glycosylation Defect

Aliases & Descriptions for Congenital Myasthenic Syndromes with Glycosylation Defect:

Name: Congenital Myasthenic Syndromes with Glycosylation Defect 56

Characteristics:

Orphanet epidemiological data:

56
congenital myasthenic syndromes with glycosylation defect
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA353327
ICD10 via Orphanet 34 G70.2

Summaries for Congenital Myasthenic Syndromes with Glycosylation Defect

MalaCards based summary : Congenital Myasthenic Syndromes with Glycosylation Defect is related to autosomal dominant nonsyndromic deafness and hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome. An important gene associated with Congenital Myasthenic Syndromes with Glycosylation Defect is ALG14 (ALG14, UDP-N-Acetylglucosaminyltransferase Subunit), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include eye.

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:

id Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 10.0 ALG2 GMPPB
2 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 9.2 ALG14 ALG2 DPAGT1 GFPT1 GMPPB
3 conus medullaris neoplasm 9.1 ALG14 ALG2 DPAGT1 GFPT1 GMPPB

Symptoms & Phenotypes for Congenital Myasthenic Syndromes with Glycosylation Defect

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:

39
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:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 8.96 ALG2 DPAGT1
2 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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