MCID: GLY031
MIFTS: 42

Glycoproteinosis

Categories: Metabolic diseases, Rare 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

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

MalaCards based summary : Glycoproteinosis, also known as sialidosis, is related to neuraminidase deficiency and mucopolysaccharidosis, type vi. An important gene associated with Glycoproteinosis is CTSA (Cathepsin A), and among its related pathways/superpathways are Other glycan degradation and Sphingolipid metabolism. Affiliated tissues include skin, brain and kidney, and related phenotypes are Reduced mammosphere formation and behavior/neurological

Wikipedia : 76 [citation... more...

Related Diseases for Glycoproteinosis

Diseases related to Glycoproteinosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 neuraminidase deficiency 31.9 CTSA GLB1 NEU1 PSAP
2 mucopolysaccharidosis, type vi 31.4 GAA SUMF1
3 galactosialidosis 30.4 CTSA GLB1 NEU1 NEU2
4 mucolipidosis ii alpha/beta 29.8 NEU1 PSAP
5 gangliosidosis gm1 29.7 CTSA GLB1 NEU1 PSAP
6 mucolipidosis iv 29.7 CTSA GLB1 PSAP
7 lysosomal storage disease 29.5 CTSA GAA GLB1 NEU1 SUMF1
8 juvenile sialidosis type 2 12.1
9 congenital sialidosis type 2 12.1
10 mucolipidoses 11.2
11 glycoprotein storage disease 11.1
12 macular dystrophy, corneal 11.1
13 mucopolysaccharidoses 10.6
14 gangliosidosis gm2 10.1 CTSA GLB1
15 sialuria 10.0 NEU1 SLC17A5
16 carpal tunnel syndrome 10.0
17 mononeuropathy of the median nerve, mild 10.0
18 hydrops fetalis, nonimmune, and/or atrial septal defect 10.0
19 fetal edema 10.0
20 hydrops fetalis 10.0
21 mucopolysaccharidosis iv 10.0 CTSA GLB1 NEU1
22 mannosidosis, alpha b, lysosomal 10.0 CTSA GAA
23 fucosidosis 9.9 CTSA GAA
24 lipoid congenital adrenal hyperplasia 9.9
25 ataxia and polyneuropathy, adult-onset 9.9
26 mannosidosis 9.9
27 nephrotic syndrome 9.9
28 hyperparathyroidism 9.9
29 peripheral nervous system disease 9.9
30 neuropathy 9.9
31 seizure disorder 9.9
32 mannosidosis, beta a, lysosomal 9.9 CTSA GAA
33 aspartylglucosaminuria 9.9 CTSA GAA
34 inclusion-cell disease 9.9 CTSA GLB1 PSAP
35 myoclonus 9.9
36 sphingolipidosis 9.9 CTSA GLB1 PSAP
37 metachromatic leukodystrophy 9.8 PSAP SUMF1
38 scheie syndrome 9.8 CTSA GAA GLB1
39 lipid storage disease 9.8 GLB1 PSAP
40 krabbe disease 9.8 GAA PSAP
41 tay-sachs disease 9.7 CTSA GLB1 NEU1 PSAP

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 GAA GLB1 PSAP

MGI Mouse Phenotypes related to Glycoproteinosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 CTSA GAA GLB1 NEU1 PSAP SLC17A5
2 cellular MP:0005384 9.87 CTSA GAA GLB1 NEU1 PSAP SLC17A5
3 growth/size/body region MP:0005378 9.8 CTSA GAA GLB1 NEU1 PSAP SLC17A5
4 liver/biliary system MP:0005370 9.55 CTSA GLB1 NEU1 PSAP SUMF1
5 renal/urinary system MP:0005367 9.26 CTSA GLB1 NEU1 PSAP
6 skeleton MP:0005390 9.02 GAA GLB1 NEU1 PSAP SUMF1

Drugs & Therapeutics for Glycoproteinosis

Search Clinical Trials , NIH Clinical Center for Glycoproteinosis

Cochrane evidence based reviews: mucolipidoses

Genetic Tests for Glycoproteinosis

Anatomical Context for Glycoproteinosis

MalaCards organs/tissues related to Glycoproteinosis:

41
Skin, Brain, Kidney

Publications for Glycoproteinosis

Articles related to Glycoproteinosis:

(show top 50) (show all 64)
# Title Authors Year
1
Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement. ( 30023283 )
2018
2
Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child. ( 30450471 )
2018
3
Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with NEU-1 gene mutation. ( 29414417 )
2018
4
Sialidosis type I presenting with a novel mutation and advanced neuroimaging features. ( 29455223 )
2018
5
Child Neurology: Type 1 sialidosis due to a novel mutation in NEU1 gene. ( 29581327 )
2018
6
Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder. ( 29693572 )
2018
7
Seizure remission and improvement of neurological function in sialidosis with perampanel therapy. ( 29977792 )
2018
8
Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings. ( 30445145 )
2018
9
Cortical damage in the posterior visual pathway in patients with sialidosis type 1. ( 26843009 )
2017
10
Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings. ( 27942463 )
2017
11
Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene. ( 28138907 )
2017
12
Optical coherence tomography features in a case of Type I sialidosis. ( 29018767 )
2017
13
Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis. ( 27004518 )
2016
14
Optical coherence tomography findings in a patient with type 1 sialidosis. ( 27052257 )
2016
15
NEU1 mutation in a Korean infant with type 2 sialidosis presenting as isolated fetal ascites. ( 25223955 )
2015
16
Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis. ( 26949572 )
2015
17
Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis. ( 23770387 )
2013
18
Five year follow-up of two sisters with type II sialidosis: systemic and ophthalmic findings including OCT analysis. ( 23819954 )
2013
19
The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosis. ( 22898113 )
2012
20
Spectral optical coherence tomography in a patient with type I sialidosis. ( 21959619 )
2011
21
Cherry red spot in sialidosis (mucolipidosis type I). ( 18268224 )
2008
22
Long-term follow-up of metachronous marrow-kidney transplantation in severe type II sialidosis: what does success mean? ( 16091374 )
2005
23
Spinal anesthesia for a patient with type I sialidosis undergoing abdominal surgery. ( 11472298 )
2001
24
Type I sialidosis: a clinical, biochemical and neuroradiological study. ( 10686466 )
2000
25
Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infant. ( 10438195 )
1999
26
Prenatal diagnosis of congenital sialidosis. ( 8403459 )
1993
27
Oligosaccharides in (galacto)sialidosis urine. ( 1499142 )
1992
28
Severe infantile sialidosis--the characteristics of oligosaccharides isolated from the urine and the abdominal ascites. ( 1502687 )
1992
29
Colour Doppler imaging of intracranial vasculopathy in severe infantile sialidosis. ( 1508583 )
1992
30
Systemic glycoproteinosis resembling Lafora's disease in a cow. ( 1903101 )
1991
31
A comparative study of sialyloligosaccharides isolated from sialidosis and galactosialidosis urine. ( 1779619 )
1991
32
Cherry-red spot myoclonus syndrome (type I sialidosis). ( 1817038 )
1991
33
Proteinuria in a child with sialidosis: case report and histological studies. ( 2701867 )
1989
34
Structural analysis of O-glycosidic type of sialyloligosaccharide-alditols derived from urinary glycopeptides of a sialidosis patient. ( 3371361 )
1988
35
Purification and characterization of sialic acid containing materials accumulated in cultured skin fibroblasts from a patient with type II sialidosis. ( 3106715 )
1987
36
Lysosomal sialidase deficiency: increased ganglioside content in autopsy tissues of a sialidosis patient. ( 3440449 )
1987
37
Accumulation of [3H]sialyl-conjugates in sialidosis (sialidase-deficient) fibroblasts cultured in the presence of [3H]-N-acetylmannosamine. ( 3088328 )
1986
38
Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria. ( 3096875 )
1986
39
Electrophysiological studies of myoclonus in sialidosis type 2. ( 2578348 )
1985
40
Heterogeneity of lysosomal enzymes in cultured normal and sialidosis type II human fibroblasts and the effect of ammonium chloride on this heterogeneity. ( 3160928 )
1985
41
Two positional isomers of sialylheptasaccharides isolated from the urine of a patient with sialidosis. ( 3935647 )
1985
42
Infantile type 2 sialidosis in a Pakistani family--a clinical and biochemical study. ( 6438403 )
1984
43
Carrier detection of sialidosis with partial beta-galactosidase deficiency by the assay of lysosomal sialidase in lymphocytes. ( 6703657 )
1984
44
Lysosomal sialidase deficiency in sialidosis with partial beta-galactosidase deficiency. ( 6402033 )
1983
45
Sialidosis type 2 in Japan. Clinical study in two siblings' cases and review of literature. ( 6405017 )
1983
46
Neuraminidase deficiency and accumulation of sialic acid in lymphocytes in adult type sialidosis with partial beta-galactosidase deficiency. ( 6808893 )
1982
47
Km defect in neuraminidase of dysmorphic type sialidosis with and without beta-galactosidase deficiency. ( 6811161 )
1982
48
Urinary sialyloligosaccharides in adult type sialidosis: occurrence of two positional isomers. ( 6792402 )
1981
49
Four positional isomers of sialyloligosaccharides isolated from the urine of a patient with sialidosis. ( 7298659 )
1981
50
Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case. ( 6777097 )
1980

Variations for Glycoproteinosis

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
13.55 CTSA GAA GLB1 NEU1 NEU2 PSAP
2
Show member pathways
13.31 CTSA GLB1 NEU1 NEU2 SLC17A5 SUMF1
3
Show member pathways
12.61 CTSA GLB1 NEU1 NEU2 SLC17A5
4
Show member pathways
11.84 CTSA GLB1 NEU1 NEU2 SLC17A5
5
Show member pathways
11.84 CTSA GLB1 NEU1 NEU2 PSAP SUMF1
6 11.26 CTSA GAA GLB1 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 GAA GLB1 NEU1 PSAP
2 intracellular membrane-bounded organelle GO:0043231 9.65 CTSA GLB1 NEU1 NEU2 PSAP
3 lysosomal membrane GO:0005765 9.55 CTSA GAA NEU1 PSAP SLC17A5
4 lysosome GO:0005764 9.43 CTSA GAA GLB1 NEU1 PSAP SLC17A5
5 azurophil granule lumen GO:0035578 9.4 CTSA GLB1
6 azurophil granule membrane GO:0035577 9.32 GAA PSAP
7 lysosomal lumen GO:0043202 9.02 CTSA GAA GLB1 NEU1 PSAP

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.61 NEU1 NEU2 PSAP
2 carbohydrate metabolic process GO:0005975 9.56 GAA GLB1 NEU1 NEU2
3 metabolic process GO:0008152 9.46 GAA GLB1 NEU1 NEU2
4 positive regulation of catalytic activity GO:0043085 9.4 CTSA PSAP
5 oligosaccharide catabolic process GO:0009313 9.37 NEU1 NEU2
6 neutrophil degranulation GO:0043312 9.35 CTSA GAA GLB1 NEU1 PSAP
7 ganglioside catabolic process GO:0006689 9.32 NEU1 NEU2
8 glycosphingolipid metabolic process GO:0006687 9.1 CTSA GLB1 NEU1 NEU2 PSAP SUMF1

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 GAA GLB1 NEU1 NEU2
2 enzyme activator activity GO:0008047 9.46 CTSA PSAP
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.4 GAA GLB1
4 beta-galactosidase activity GO:0004565 9.37 GLB1 PSAP
5 exo-alpha-(2->3)-sialidase activity GO:0052794 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 GAA GLB1 NEU1 NEU2
8 exo-alpha-(2->8)-sialidase activity GO:0052796 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
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