MCID: GLY031
MIFTS: 49

Glycoproteinosis

Categories: Eye diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Glycoproteinosis

MalaCards integrated aliases for Glycoproteinosis:

Name: Glycoproteinosis 12 20 58 15
Sialidosis 12 73 43 58 36 29 54 6
Mucolipidosis Type I 12 43
Mucolipidoses 44 70
Cherry Red Spot Myoclonus Syndrome 43
Myoclonus Cherry Red Spot Syndrome 43
Lipomucopolysaccharidosis 70
Type I Mucolipidosis 70
Mucolipidosis I 43

Characteristics:

Orphanet epidemiological data:

58
sialidosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Netherlands),<1/1000000 (Australia),<1/1000000 (Europe),<1/1000000 (Czech Republic),1-9/1000000 (Sweden); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:3343
KEGG 36 H00142
MeSH 44 D009081
NCIt 50 C61267
SNOMED-CT 67 70528007
ICD10 via Orphanet 33 E77.0 E77.1 E77.8 more
UMLS 70 C0023806 C0026697 C0268226

Summaries for Glycoproteinosis

MedlinePlus Genetics : 43 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.Sialidosis type I, also referred to as cherry-red spot myoclonus syndrome, is the less severe form of this condition. People with type I develop signs and symptoms of sialidosis in their teens or twenties. Initially, affected individuals experience problems walking (gait disturbance) and/or a loss of sharp vision (reduced visual acuity). Individuals with sialidosis type I also experience muscle twitches (myoclonus), difficulty coordinating movements (ataxia), leg tremors, and seizures. The myoclonus worsens over time, causing difficulty sitting, standing, or walking. People with sialidosis type I eventually require wheelchair assistance. Affected individuals have progressive vision problems, including impaired color vision or night blindness. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Sialidosis type I does not affect intelligence or life expectancy.Sialidosis type II, the more severe type of the disorder, is further divided into congenital, infantile, and juvenile forms. The features of congenital sialidosis type II can develop before birth. This form of sialidosis is associated with an abnormal buildup of fluid in the abdominal cavity (ascites) or widespread swelling before birth caused by fluid accumulation (hydrops fetalis). Affected infants may also have an enlarged liver and spleen (hepatosplenomegaly), abnormal bone development (dysostosis multiplex), and distinctive facial features that are often described as "coarse." As a result of these serious health problems, individuals with congenital sialidosis type II usually are stillborn or die soon after birth.Infantile sialidosis type II shares some features with the congenital form, although the signs and symptoms are slightly less severe and begin within the first year of life. Features of the infantile form include hepatosplenomegaly, dysostosis multiplex, "coarse" facial features, short stature, and intellectual disability. As children with infantile sialidosis type II get older, they may develop myoclonus and cherry-red spots. Other signs and symptoms include hearing loss, overgrowth of the gums (gingival hyperplasia), and widely spaced teeth. Affected individuals may survive into childhood or adolescence.The juvenile form has the least severe signs and symptoms of the different forms of sialidosis type II. Features of this condition usually appear in late childhood and may include mildly "coarse" facial features, mild bone abnormalities, cherry-red spots, myoclonus, intellectual disability, and dark red spots on the skin (angiokeratomas). The life expectancy of individuals with juvenile sialidosis type II varies depending on the severity of symptoms.

MalaCards based summary : Glycoproteinosis, also known as sialidosis, is related to mucopolysaccharidosis, type vi and gm1-gangliosidosis, type i. An important gene associated with Glycoproteinosis is NEU1 (Neuraminidase 1), and among its related pathways/superpathways are Other glycan degradation and Sphingolipid metabolism. The drugs Hydroxyurea and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include eye, spleen and skin, and related phenotypes are Decreased viability and Decreased viability

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

KEGG : 36 Sialidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of sialidase (neuraminidase). The enzymatic defect results in the accumulation of sialidated glycopeptides and oligosaccharides in many organs. The disease is classified into two types: type 1 for the mild form with late-onset and type 2 for the severe form with infantile onset.

Wikipedia : 73 Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of... more...

Related Diseases for Glycoproteinosis

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

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis, type vi 31.0 GLB1 GALNS ARSB
2 gm1-gangliosidosis, type i 30.4 PSAP GLB1
3 hydrops fetalis, nonimmune 30.3 NEU1 CTSA
4 myoclonus epilepsy 30.1 NHLRC1 CSTB
5 early myoclonic encephalopathy 29.9 NHLRC1 CSTB CLN6
6 mucolipidosis ii alpha/beta 29.9 PSAP LAMP1 GALNS
7 gangliosidosis 29.8 PSAP NEU1 GLB1 GALNS CTSA
8 myoclonus 29.8 NHLRC1 NEU1 CSTB
9 galactosialidosis 29.5 PSAP NEU4 NEU3 NEU2 NEU1 GLB1
10 sphingolipidosis 29.5 SERPINA3 PSAP NAGA LAMP1 GLB1 CTSA
11 mucopolysaccharidosis, type ii 29.5 GLB1 GALNS ARSB
12 progressive myoclonus epilepsy 29.2 NHLRC1 CSTB CLN6 CLN3
13 mucopolysaccharidosis iv 29.2 GLB1 GALNS CTSA ARSB
14 gm1 gangliosidosis 28.8 PSAP NEU1 GLB1 GALNS CTSA CLN6
15 hurler syndrome 28.6 NEU4 NEU1 GLB1 GALNS FUCA2 CTSA
16 mucolipidosis 28.2 SERPINA3 PSAP NEU4 NEU3 NEU2 NEU1
17 scheie syndrome 28.1 LAMP1 GLB1 GALNS FUCA2 CTSA CLN3
18 lysosomal storage disease 28.1 SERPINA3 PSAP NEU1 NAGA GLB1 GALNS
19 mucopolysaccharidosis-plus syndrome 27.9 NEU1 LAMP1 GLB1 GALNS FUCA2 CTSA
20 neuraminidase deficiency 11.2
21 mucolipidoses 11.1
22 glycoprotein storage disease 11.0
23 myoclonic epilepsy of unverricht and lundborg 11.0
24 macular dystrophy, corneal 10.9
25 juvenile sialidosis type 2 10.9
26 congenital sialidosis type 2 10.9
27 ataxia and polyneuropathy, adult-onset 10.4
28 autosomal recessive disease 10.4
29 atrophic rhinitis 10.3 NEU1 CTSA
30 mongolian spot 10.3 NEU1 GLB1
31 clear cell adenocarcinoma of the ovary 10.3 NEU3 NEU1
32 gm1-gangliosidosis, type ii 10.3 GLB1 CTSA
33 pasteurellosis 10.3 SERPINA3 NEU1
34 myoclonic cerebellar dyssynergia 10.2
35 niemann-pick disease, type c2 10.2 PSAP NAGA
36 lymphatic malformation 7 10.2
37 progressive myoclonus epilepsy 4 10.2 PSAP CSTB
38 nephrosialidosis 10.2
39 gas gangrene 10.2 SERPINA3 NEU1
40 ceroid lipofuscinosis, neuronal, 9 10.1 CLN6 CLN3
41 niemann-pick disease, type c1 10.1 PSAP NAGA LAMP1
42 visual epilepsy 10.1 CLN6 CLN3
43 sandhoff disease 10.1 PSAP GLB1 CLN6
44 fabry disease 10.1 PSAP NAGA LAMP1
45 laryngotracheitis 10.1 GLB1 FUCA2
46 ceroid lipofuscinosis, neuronal, 11 10.1 CLN6 CLN3
47 myoclonus and ataxia 10.1
48 ceroid lipofuscinosis, neuronal, 13 10.1 CLN6 CLN3
49 krabbe disease 10.1 PSAP GLB1 ARSB
50 ceroid lipofuscinosis, neuronal, 7 10.1 CLN6 CLN3

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 Decreased viability GR00249-S 9.53 CTSA FUCA2 SERPINA3
2 Decreased viability GR00381-A-1 9.53 CSTB NEU1
3 Decreased viability GR00386-A-1 9.53 ARSB CSTB GALNS LAMP1 NAGA NEU1
4 Decreased viability GR00402-S-2 9.53 ARSB GALNS GLB1 LAMP1 NEU4

MGI Mouse Phenotypes related to Glycoproteinosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 ARSB CLN3 CLN6 CSTB CTSA GLB1
2 homeostasis/metabolism MP:0005376 10.03 ARSB CLN3 CLN6 CSTB CTSA GALNS
3 cellular MP:0005384 10 ARSB CLN3 CSTB CTSA GALNS GLB1
4 nervous system MP:0003631 9.65 ARSB CLN3 CLN6 CSTB GLB1 LAMP1
5 renal/urinary system MP:0005367 9.17 ARSB CLN3 CTSA GALNS GLB1 NEU1

Drugs & Therapeutics for Glycoproteinosis

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 2 127-07-1 3657
2
Melphalan Approved Phase 2 148-82-3 4053 460612
3
tannic acid Approved Phase 2 1401-55-4
4
alemtuzumab Approved, Investigational Phase 2 216503-57-0
5
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
6
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
7
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
8
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
9
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
10
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
11
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
12
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
13
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
14
Busulfan Approved, Investigational Phase 2 55-98-1 2478
15
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
16
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
17 Alkylating Agents Phase 2
18 Immunosuppressive Agents Phase 2
19 Anti-Infective Agents Phase 2
20 Cyclosporins Phase 2
21 Antirheumatic Agents Phase 2
22 Immunologic Factors Phase 2
23 Antineoplastic Agents, Immunological Phase 2
24 Dermatologic Agents Phase 2
25 Antimetabolites Phase 2
26 Calcineurin Inhibitors Phase 2
27 Antifungal Agents Phase 2
28 Methylprednisolone Acetate Phase 2
29 Thymoglobulin Phase 2
30 Antilymphocyte Serum Phase 2
31 polysaccharide-K
32 Gastrins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
2 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
3 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
4 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
5 The Natural History of Mucolipidosis Type IV Unknown status NCT01067742
6 The Natural History and Pathogenesis of Mucolipidosis Type IV Completed NCT00015782
7 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
8 Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298673

Search NIH Clinical Center for Glycoproteinosis

Cochrane evidence based reviews: mucolipidoses

Genetic Tests for Glycoproteinosis

Genetic tests related to Glycoproteinosis:

# Genetic test Affiliating Genes
1 Sialidosis 29

Anatomical Context for Glycoproteinosis

MalaCards organs/tissues related to Glycoproteinosis:

40
Eye, Spleen, Skin, Skeletal Muscle, Smooth Muscle

Publications for Glycoproteinosis

Articles related to Glycoproteinosis:

(show top 50) (show all 331)
# Title Authors PMID Year
1
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. 54 6 61
10767332 2000
2
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1. 6 61
32453490 2020
3
Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. 6 61
24808020 2014
4
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients. 6 61
21214877 2012
5
First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study. 61 6
16712870 2006
6
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. 61 6
11063730 2000
7
Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia. 61 54
19415310 2010
8
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. 54 61
19568825 2009
9
Protective protein/cathepsin A rescues N-glycosylation defects in neuraminidase-1. 54 61
19714866 2009
10
Neuraminidase-1, a subunit of the cell surface elastin receptor, desialylates and functionally inactivates adjacent receptors interacting with the mitogenic growth factors PDGF-BB and IGF-2. 54 61
18772331 2008
11
Abnormal cortical excitability with preserved brainstem and spinal reflexes in sialidosis type I. 54 61
18343720 2008
12
[Anesthetic management of a boy with sialidosis]. 61 54
16711501 2006
13
Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies. 54 61
16538002 2006
14
Lysosomal sialidase (neuraminidase-1) is targeted to the cell surface in a multiprotein complex that facilitates elastic fiber assembly. 54 61
16314420 2006
15
[Sialidosis type I. Two cases in a family]. 54 61
16193438 2005
16
Short-term, high dose enzyme replacement therapy in sialidosis mice. 61 54
15979029 2005
17
Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase. 61 54
15908988 2005
18
Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells. 61 54
15213228 2004
19
Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. 61 54
14695530 2004
20
Molecular pathology of NEU1 gene in sialidosis. 61 54
14517945 2003
21
Characterization of the mouse lysosomal sialidase promoter. 61 54
14597183 2003
22
Clinical variability of type II sialidosis by C808T mutation. 54 61
12522793 2003
23
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene. 61 54
11702224 2001
24
Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient. 61 54
11470272 2001
25
Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex. 61 54
11279074 2001
26
Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation. 54 61
11195014 2001
27
Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology. 54 61
11550799 2001
28
Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. 54 61
10571006 1999
29
Inherited metabolic disorders in Thailand--Siriraj experience. 61 54
11400749 1999
30
Congenital sialidosis. 61 54
9763912 1998
31
Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A. 61 54
9501080 1998
32
Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts. 61 54
9384611 1998
33
Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. 61 54
9054950 1997
34
Comparison of sialic acids excretion in spot urines and 24-hour-urines of children and adults. 54 61
9156567 1997
35
Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. 54 61
8985184 1996
36
Further evidence that human lysosomal sialidase is not derived from prosaposin. Prosaposin biosynthesis and ganglioside sialidase studies in prosaposin- and sialidase-deficient fibroblast lines. 54 61
8003252 1994
37
Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase. 54 61
1637339 1992
38
Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders. 61 54
1634229 1992
39
Coincident neuraminidase and aspartoacylase deficiency associated with chromosome 9Q paracentric inversion in a Saudi family. 54 61
1588018 1992
40
GM1 gangliosidosis type 2 in two siblings. 54 61
1588015 1992
41
Disorders of glycoprotein degradation. 54 61
2122119 1990
42
An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca2+ dynamics. 61
33516873 2021
43
Anesthetic management for mastectomy and total hysterectomy in a 49-year-old woman with type 1 sialidosis: a case report. 61
33665754 2021
44
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study. 61
33686258 2021
45
Using Bibliometric Analysis and Machine Learning to Identify Compounds Binding to Sialidase-1. 61
33553934 2021
46
Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature. 61
33553400 2021
47
Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II). 61
33507140 2021
48
Therapeutic Potential of Neu1 in Alzheimer's Disease Via the Immune System. 61
33719595 2021
49
Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis? 61
33121223 2021
50
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders. 61
33422100 2021

Variations for Glycoproteinosis

ClinVar genetic disease variations for Glycoproteinosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEU1 NM_000434.4(NEU1):c.114_115del (p.Leu40fs) Deletion Pathogenic 435974 rs754405067 GRCh37: 6:31830439-31830440
GRCh38: 6:31862662-31862663
2 NEU1 NM_000434.4(NEU1):c.544A>G (p.Ser182Gly) SNV Pathogenic 430337 rs398123392 GRCh37: 6:31829036-31829036
GRCh38: 6:31861259-31861259
3 NEU1 NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter) SNV Pathogenic 997915 GRCh37: 6:31827819-31827819
GRCh38: 6:31860042-31860042
4 NEU1 NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) SNV Pathogenic 430342 rs769765227 GRCh37: 6:31828335-31828335
GRCh38: 6:31860558-31860558
5 NEU1 NM_000434.4(NEU1):c.838C>T (p.Arg280Ter) SNV Likely pathogenic 918138 GRCh37: 6:31828002-31828002
GRCh38: 6:31860225-31860225

Expression for Glycoproteinosis

Search GEO for disease gene expression data for Glycoproteinosis.

Pathways for Glycoproteinosis

Pathways related to Glycoproteinosis according to KEGG:

36
# 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
13.8 PSAP NHLRC1 NEU4 NEU3 NEU2 NEU1
2
Show member pathways
13.72 SERPINA3 PSAP NEU1 LAMP1 GLB1 GALNS
3
Show member pathways
12.73 NEU4 NEU3 NEU2 NEU1 GLB1 CTSA
4
Show member pathways
12.16 PSAP NEU4 NEU3 NEU2 NEU1 GLB1
5
Show member pathways
12.02 NEU4 NEU3 NEU2 NEU1 GLB1 CTSA
6 11.43 PSAP NEU1 NAGA LAMP1 GLB1 GALNS
7
Show member pathways
10.8 GLB1 GALNS ARSB
8 10.69 NEU4 NEU3 NEU2 NEU1 GLB1 FUCA2

GO Terms for Glycoproteinosis

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.09 SERPINA3 PSAP NEU1 GLB1 GALNS FUCA2
2 extracellular exosome GO:0070062 10 SERPINA3 PSAP NEU1 NAGA LAMP1 GLB1
3 intracellular membrane-bounded organelle GO:0043231 9.97 PSAP NEU4 NEU3 NEU2 NEU1 GLB1
4 lysosomal membrane GO:0005765 9.8 PSAP NEU3 NEU1 LAMP1 CTSA CLN3
5 late endosome GO:0005770 9.67 PSAP LAMP1 CLN3
6 ficolin-1-rich granule lumen GO:1904813 9.65 GLB1 CSTB ARSB
7 azurophil granule lumen GO:0035578 9.63 SERPINA3 GLB1 GALNS FUCA2 CTSA ARSB
8 vacuole GO:0005773 9.58 LAMP1 GLB1 CLN3
9 lysosomal lumen GO:0043202 9.5 PSAP NEU4 NEU1 GLB1 GALNS CTSA
10 autolysosome GO:0044754 9.46 LAMP1 CLN3
11 lysosome GO:0005764 9.4 PSAP NEU4 NEU3 NEU1 NAGA LAMP1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.92 PSAP NEU4 NEU3 NEU2 NEU1
2 carbohydrate metabolic process GO:0005975 9.91 NEU4 NEU3 NEU2 NEU1 NAGA GLB1
3 metabolic process GO:0008152 9.8 NEU4 NEU3 NEU2 NEU1 NAGA GLB1
4 lipid catabolic process GO:0016042 9.71 NEU4 NEU3 NEU2 NEU1
5 neutrophil degranulation GO:0043312 9.65 SERPINA3 PSAP NEU1 LAMP1 GLB1 GALNS
6 oligosaccharide catabolic process GO:0009313 9.62 NEU4 NEU3 NEU2 NEU1
7 lysosome organization GO:0007040 9.61 CLN6 CLN3 ARSB
8 negative regulation of proteolysis GO:0045861 9.57 CSTB CLN3
9 regulation of protein localization to plasma membrane GO:1903076 9.56 NHLRC1 CLN3
10 lysosomal transport GO:0007041 9.55 PSAP ARSB
11 glycoprotein catabolic process GO:0006516 9.54 NEU4 NEU2
12 keratan sulfate catabolic process GO:0042340 9.51 GLB1 GALNS
13 Golgi to lysosome transport GO:0090160 9.49 LAMP1 CLN3
14 lysosomal lumen acidification GO:0007042 9.48 CLN6 CLN3
15 glycoside catabolic process GO:0016139 9.46 NAGA FUCA2
16 ganglioside catabolic process GO:0006689 9.46 NEU4 NEU3 NEU2 NEU1
17 glycosphingolipid metabolic process GO:0006687 9.17 PSAP NEU4 NEU3 NEU2 NEU1 GLB1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.07 NEU4 NEU3 NEU2 NEU1 NAGA GLB1
2 exo-alpha-(2->8)-sialidase activity GO:0052796 9.62 NEU4 NEU3 NEU2 NEU1
3 exo-alpha-(2->6)-sialidase activity GO:0052795 9.56 NEU4 NEU3 NEU2 NEU1
4 sulfuric ester hydrolase activity GO:0008484 9.51 GALNS ARSB
5 arylsulfatase activity GO:0004065 9.49 GALNS ARSB
6 beta-galactosidase activity GO:0004565 9.48 PSAP GLB1
7 sulfatide binding GO:0120146 9.46 CLN6 CLN3
8 exo-alpha-(2->3)-sialidase activity GO:0052794 9.46 NEU4 NEU3 NEU2 NEU1
9 alpha-sialidase activity GO:0016997 9.43 NEU3 NEU1
10 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.4 GALNS ARSB
11 exo-alpha-sialidase activity GO:0004308 9.26 NEU4 NEU3 NEU2 NEU1
12 hydrolase activity, acting on glycosyl bonds GO:0016798 9.17 NEU4 NEU3 NEU2 NEU1 NAGA GLB1

Sources for Glycoproteinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....