MCID: DSR057
MIFTS: 8

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 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Orphanet 58 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 TPI1 (Triosephosphate Isomerase 1). 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 9.9
2 atrial standstill 1 9.8
3 abdominal obesity-metabolic syndrome 1 9.8
4 triosephosphate isomerase deficiency 9.8

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:

40
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. 61
29113318 2017
2
Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency. 61
24192681 2013
3
Reversal of metabolic block in glycolysis by enzyme replacement in triosephosphate isomerase-deficient cells. 61
10556207 1999
4
The feasibility of replacement therapy for inherited disorder of glycolysis: triosephosphate isomerase deficiency (review). 61
9850739 1998
5
Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. 61
9338582 1997

Variations for Disorder of Glycolysis

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

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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