MCID: GLY031
MIFTS: 34

Glycoproteinosis

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Glycoproteinosis

MalaCards integrated aliases for Glycoproteinosis:

Name: Glycoproteinosis 12 53 15
Sialidosis 12 76 25 37 55 6
Mucolipidosis Type I 12 25
Mucolipidoses 44 73
Cherry Red Spot Myoclonus Syndrome 25
Myoclonus Cherry Red Spot Syndrome 25
Lipomucopolysaccharidosis 73
Mucolipidosis Type 1 76
Type I Mucolipidosis 73
Mucolipidosis I 25

Classifications:



External Ids:

Disease Ontology 12 DOID:3343
MeSH 44 D009081
NCIt 50 C61267
SNOMED-CT 68 70528007
KEGG 37 H00142

Summaries for Glycoproteinosis

Genetics Home Reference : 25 Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.

MalaCards based summary : Glycoproteinosis, also known as sialidosis, is related to mucolipidosis ii alpha/beta and mucolipidoses. An important gene associated with Glycoproteinosis is NEU1 (Neuraminidase 1), and among its related pathways/superpathways are Other glycan degradation and Sphingolipid metabolism. The drug Krestin has been mentioned in the context of this disorder. Related phenotypes are Reduced mammosphere formation and homeostasis/metabolism

Disease Ontology : 12 A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).

Wikipedia : 76 Mucolipidosis type I (ML I) or sialidosis is an inherited lysosomal storage disease that results from a... more...

Related Diseases for Glycoproteinosis

Graphical network of the top 20 diseases related to Glycoproteinosis:



Diseases related to Glycoproteinosis

Symptoms & Phenotypes for Glycoproteinosis

GenomeRNAi Phenotypes related to Glycoproteinosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.92 CTSA GLB1 NAGA PSAP

MGI Mouse Phenotypes related to Glycoproteinosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.63 CTSA GLB1 NAGA NEU1 PSAP SLC17A5
2 liver/biliary system MP:0005370 9.26 CTSA GLB1 NEU1 PSAP
3 renal/urinary system MP:0005367 8.92 CTSA GLB1 NEU1 PSAP

Drugs & Therapeutics for Glycoproteinosis

Drugs for Glycoproteinosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Krestin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422
2 Biomarker for Mucolipidosis Disorder Type I, II, III or IV Recruiting NCT02298673

Search NIH Clinical Center for Glycoproteinosis

Cochrane evidence based reviews: mucolipidoses

Genetic Tests for Glycoproteinosis

Anatomical Context for Glycoproteinosis

Publications for Glycoproteinosis

Articles related to Glycoproteinosis:

# Title Authors Year
1
Cherry red spot in sialidosis (mucolipidosis type I). ( 18268224 )
2008
2
Systemic glycoproteinosis resembling Lafora's disease in a cow. ( 1903101 )
1991

Variations for Glycoproteinosis

ClinVar genetic disease variations for Glycoproteinosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NEU1 NM_000434.3(NEU1): c.679G> A (p.Gly227Arg) single nucleotide variant Pathogenic rs769765227 GRCh37 Chromosome 6, 31828335: 31828335
2 NEU1 NM_000434.3(NEU1): c.679G> A (p.Gly227Arg) single nucleotide variant Pathogenic rs769765227 GRCh38 Chromosome 6, 31860558: 31860558
3 NEU1 NM_000434.3(NEU1): c.114_115delGT (p.Leu40Glyfs) deletion Pathogenic rs754405067 GRCh38 Chromosome 6, 31862662: 31862663
4 NEU1 NM_000434.3(NEU1): c.114_115delGT (p.Leu40Glyfs) deletion Pathogenic rs754405067 GRCh37 Chromosome 6, 31830439: 31830440

Expression for Glycoproteinosis

Search GEO for disease gene expression data for Glycoproteinosis.

Pathways for Glycoproteinosis

Pathways related to Glycoproteinosis according to KEGG:

37
# Name Kegg Source Accession
1 Other glycan degradation hsa00511
2 Sphingolipid metabolism hsa00600
3 Lysosome hsa04142

Pathways related to Glycoproteinosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 CTSA GLB1 NAGA NEU1 NEU2 PSAP
2
Show member pathways
13.23 CTSA GLB1 NEU1 NEU2 SLC17A5
3
Show member pathways
12.61 CTSA GLB1 NEU1 NEU2 SLC17A5
4
Show member pathways
11.96 CTSA GLB1 NEU1 NEU2 PSAP
5
Show member pathways
11.64 CTSA GLB1 NEU1 NEU2 SLC17A5
6 11.19 CTSA GLB1 NAGA NEU1 PSAP SLC17A5
7 10.69 GLB1 NEU1 NEU2

GO Terms for Glycoproteinosis

Cellular components related to Glycoproteinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.77 CTSA GLB1 NAGA NEU1 PSAP
2 intracellular membrane-bounded organelle GO:0043231 9.65 CTSA GLB1 NEU1 NEU2 PSAP
3 lysosomal membrane GO:0005765 9.46 CTSA NEU1 PSAP SLC17A5
4 azurophil granule lumen GO:0035578 9.32 CTSA GLB1
5 lysosomal lumen GO:0043202 9.26 CTSA GLB1 NEU1 PSAP
6 lysosome GO:0005764 9.1 CTSA GLB1 NAGA NEU1 PSAP SLC17A5

Biological processes related to Glycoproteinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.67 GLB1 NAGA NEU1 NEU2
2 neutrophil degranulation GO:0043312 9.62 CTSA GLB1 NEU1 PSAP
3 lipid metabolic process GO:0006629 9.61 NEU1 NEU2 PSAP
4 lipid catabolic process GO:0016042 9.46 NEU1 NEU2
5 positive regulation of catalytic activity GO:0043085 9.4 CTSA PSAP
6 oligosaccharide catabolic process GO:0009313 9.26 NEU1 NEU2
7 carbohydrate metabolic process GO:0005975 9.26 GLB1 NAGA NEU1 NEU2
8 ganglioside catabolic process GO:0006689 9.16 NEU1 NEU2
9 glycosphingolipid metabolic process GO:0006687 9.02 CTSA GLB1 NEU1 NEU2 PSAP

Molecular functions related to Glycoproteinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.83 CTSA GLB1 NAGA NEU1 NEU2
2 enzyme activator activity GO:0008047 9.46 CTSA PSAP
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.4 GLB1 NAGA
4 beta-galactosidase activity GO:0004565 9.37 GLB1 PSAP
5 exo-alpha-(2->8)-sialidase activity GO:0052796 9.32 NEU1 NEU2
6 exo-alpha-(2->6)-sialidase activity GO:0052795 9.26 NEU1 NEU2
7 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 GLB1 NAGA NEU1 NEU2
8 exo-alpha-(2->3)-sialidase activity GO:0052794 9.16 NEU1 NEU2
9 exo-alpha-sialidase activity GO:0004308 8.92 CTSA GLB1 NEU1 NEU2

Sources for Glycoproteinosis

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
Content
Loading form....