MCID: GLY022
MIFTS: 9

Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

Categories: Rare diseases

Aliases & Classifications for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

MalaCards integrated aliases for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency:

Name: Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency 53 72
Gapdh Deficiency 53

Classifications:



External Ids:

UMLS 72 C1291264

Summaries for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

MalaCards based summary : Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency, also known as gapdh deficiency, is related to obsolete: hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency and hereditary spherocytosis. Affiliated tissues include testis.

Wikipedia : 75 Glyceraldehyde 3-phosphate dehydrogenase (abbreviated as GAPDH or less commonly as G3PDH) (EC 1.2.1.12)... more...

Related Diseases for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

Diseases related to Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 obsolete: hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency 12.5
2 hereditary spherocytosis 10.0
3 dwarfism 10.0

Symptoms & Phenotypes for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

Drugs & Therapeutics for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

Search Clinical Trials , NIH Clinical Center for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

Genetic Tests for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

Anatomical Context for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

MalaCards organs/tissues related to Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency:

41
Testis

Publications for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

Articles related to Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency:

# Title Authors PMID Year
1
Glyceraldehyde-3-phosphate dehydrogenase is required for efficient repair of cytotoxic DNA lesions in Escherichia coli. 38
25603270 2015
2
Plastidial glyceraldehyde-3-phosphate dehydrogenase deficiency leads to altered root development and affects the sugar and amino acid balance in Arabidopsis. 38
19675149 2009
3
Genetic, biochemical, and molecular characterization of nine glyceraldehyde-3-phosphate dehydrogenase mutants with reduced enzyme activity in Mus musculus. 38
17874335 2007
4
Study of a kindred with hereditary spherocytosis and glyceraldehyde-3-phosphate dehydrogenase deficiency. 38
1244916 1976

Variations for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

Expression for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

Search GEO for disease gene expression data for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency.

Pathways for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

GO Terms for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

Sources for Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency

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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