Aliases & Classifications for Glycoprotein Storage Disease

MalaCards integrated aliases for Glycoprotein Storage Disease:

Name: Glycoprotein Storage Disease 57 6 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
glycoprotein storage disease:
Inheritance autosomal recessive inheritance


External Ids:

OMIM® 57 232900
MedGen 41 C1856275
UMLS 70 C1856275

Summaries for Glycoprotein Storage Disease

MalaCards based summary : Glycoprotein Storage Disease is related to galactosialidosis and ataxia and polyneuropathy, adult-onset. An important gene associated with Glycoprotein Storage Disease is GAA (Alpha Glucosidase). Related phenotypes are splenomegaly and gout

Wikipedia : 73 Glycoproteinosis are lysosomal storage diseases affecting glycoproteins, resulting from defects in... more...

More information from OMIM: 232900

Related Diseases for Glycoprotein Storage Disease

Diseases related to Glycoprotein Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 9, show less)
# Related Disease Score Top Affiliating Genes
1 galactosialidosis 9.9
2 ataxia and polyneuropathy, adult-onset 9.9
3 lysosomal storage disease 9.9
4 gm1 gangliosidosis 9.9
5 glycoproteinosis 9.9
6 glb1-related disorders 9.9
7 gangliosidosis 9.9
8 lipogranulomatosis 9.9
9 hypertonia 9.9

Graphical network of the top 20 diseases related to Glycoprotein Storage Disease:



Diseases related to Glycoprotein Storage Disease

Symptoms & Phenotypes for Glycoprotein Storage Disease

Human phenotypes related to Glycoprotein Storage Disease:

31 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 gout 31 HP:0001997

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
G I:
splenomegaly

Metabolic:
gout

Clinical features from OMIM®:

232900 (Updated 05-Apr-2021)

Drugs & Therapeutics for Glycoprotein Storage Disease

Search Clinical Trials , NIH Clinical Center for Glycoprotein Storage Disease

Genetic Tests for Glycoprotein Storage Disease

Anatomical Context for Glycoprotein Storage Disease

Publications for Glycoprotein Storage Disease

Articles related to Glycoprotein Storage Disease:

(showing 16, show less)
# Title Authors PMID Year
1
Glycoprotein storage disease. A new entity. 57 61
5794821 1969
2
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study. 6
30155607 2018
3
Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation. 6
25526786 2014
4
Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease. 6
24444888 2014
5
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. 6
22644586 2012
6
Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis. 61
31328155 2019
7
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study. 61
30693535 2019
8
Neurological syndrome in goats associated with Ipomoea trifida and Ipomoea carnea containing calystegines. 61
30447273 2019
9
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options. 61
28603679 2017
10
POISONING BY THE SWAINSONINE-CONTAINING PLANT SIDA CARPINIFOLIA IN CAPTIVE SAMBAR DEER (CERVUS UNICOLOR). 61
27691940 2016
11
Clinical and morphologic changes in ewes and fetuses poisoned by Ipomoea carnea subspecies fistulosa. 61
21398440 2011
12
Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease. 61
21118106 2010
13
Spontaneous and experimental glycoprotein storage disease of goats induced by Ipomoea carnea subsp fistulosa (Convolvulaceae). 61
17317794 2007
14
[Skeletal changes in 2 German children with aspartylglycosaminuria]. 61
2842830 1988
15
The simple detection of neuraminic acid-containing urinary oligosaccharides in patients with glycoprotein storage diseases. 61
6422155 1983
16
Lipogranulomatosis; a new lipo-glycoprotein storage disease. 61
13481627 1957

Variations for Glycoprotein Storage Disease

ClinVar genetic disease variations for Glycoprotein Storage Disease:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GAA NM_000152.5(GAA):c.1781G>A (p.Arg594His) SNV Pathogenic 972747 GRCh37: 17:78086403-78086403
GRCh38: 17:80112604-80112604

Expression for Glycoprotein Storage Disease

Search GEO for disease gene expression data for Glycoprotein Storage Disease.

Pathways for Glycoprotein Storage Disease

GO Terms for Glycoprotein Storage Disease

Sources for Glycoprotein Storage Disease

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
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