MCID: DSR057
MIFTS: 15

Disorder of Glycolysis

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Disorder of Glycolysis

MalaCards integrated aliases for Disorder of Glycolysis:

Name: Disorder of Glycolysis 59 6

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Orphanet 59 ORPHA308459

Summaries for Disorder of Glycolysis

MalaCards based summary : Disorder of Glycolysis is related to hemolytic anemia and atrial standstill 1. An important gene associated with Disorder of Glycolysis is GPI (Glucose-6-Phosphate Isomerase), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Glucose metabolism. Affiliated tissues include ovary.

Related Diseases for Disorder of Glycolysis

Diseases related to Disorder of Glycolysis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hemolytic anemia 29.1 TPI1 GPI
2 atrial standstill 1 9.8
3 abdominal obesity-metabolic syndrome 1 9.8
4 triosephosphate isomerase deficiency 9.8
5 congenital hemolytic anemia 9.2 TPI1 GPI

Graphical network of the top 20 diseases related to Disorder of Glycolysis:



Diseases related to Disorder of Glycolysis

Symptoms & Phenotypes for Disorder of Glycolysis

Drugs & Therapeutics for Disorder of Glycolysis

Search Clinical Trials , NIH Clinical Center for Disorder of Glycolysis

Genetic Tests for Disorder of Glycolysis

Anatomical Context for Disorder of Glycolysis

MalaCards organs/tissues related to Disorder of Glycolysis:

41
Ovary

Publications for Disorder of Glycolysis

Articles related to Disorder of Glycolysis:

# Title Authors PMID Year
1
Follicular metabolic changes and effects on oocyte quality in polycystic ovary syndrome patients. 38
29113318 2017
2
Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency. 38
24192681 2013
3
Reversal of metabolic block in glycolysis by enzyme replacement in triosephosphate isomerase-deficient cells. 38
10556207 1999
4
The feasibility of replacement therapy for inherited disorder of glycolysis: triosephosphate isomerase deficiency (review). 38
9850739 1998
5
Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. 38
9338582 1997

Variations for Disorder of Glycolysis

ClinVar genetic disease variations for Disorder of Glycolysis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GPI NM_000175.5(GPI): c.1336C> T (p.Arg446Ter) single nucleotide variant Likely pathogenic rs774419705 19:34890178-34890178 19:34399273-34399273

Expression for Disorder of Glycolysis

Search GEO for disease gene expression data for Disorder of Glycolysis.

Pathways for Disorder of Glycolysis

GO Terms for Disorder of Glycolysis

Biological processes related to Disorder of Glycolysis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gluconeogenesis GO:0006094 9.16 TPI1 GPI
2 glycolytic process GO:0006096 8.96 TPI1 GPI
3 canonical glycolysis GO:0061621 8.62 TPI1 GPI

Molecular functions related to Disorder of Glycolysis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 8.96 TPI1 GPI
2 isomerase activity GO:0016853 8.62 TPI1 GPI

Sources for Disorder of Glycolysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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