MCID: 6PH001
MIFTS: 13

6-Phosphogluconate Dehydrogenase Deficiency

Categories: Blood diseases, Rare diseases

Aliases & Classifications for 6-Phosphogluconate Dehydrogenase Deficiency

MalaCards integrated aliases for 6-Phosphogluconate Dehydrogenase Deficiency:

Name: 6-Phosphogluconate Dehydrogenase Deficiency 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D55.1
Orphanet 58 ORPHA99135

Summaries for 6-Phosphogluconate Dehydrogenase Deficiency

MalaCards based summary : 6-Phosphogluconate Dehydrogenase Deficiency is related to glucosephosphate dehydrogenase deficiency and cutaneous leishmaniasis. An important gene associated with 6-Phosphogluconate Dehydrogenase Deficiency is G6PD (Glucose-6-Phosphate Dehydrogenase), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Glucose / Energy Metabolism.

Wikipedia : 73 6-Phosphogluconate dehydrogenase deficiency (6PGD deficiency), or partial deficiency, is an autosomal... more...

Related Diseases for 6-Phosphogluconate Dehydrogenase Deficiency

Diseases related to 6-Phosphogluconate Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glucosephosphate dehydrogenase deficiency 29.6 PGD G6PD
2 cutaneous leishmaniasis 9.5 PGD G6PD

Symptoms & Phenotypes for 6-Phosphogluconate Dehydrogenase Deficiency

Drugs & Therapeutics for 6-Phosphogluconate Dehydrogenase Deficiency

Search Clinical Trials , NIH Clinical Center for 6-Phosphogluconate Dehydrogenase Deficiency

Genetic Tests for 6-Phosphogluconate Dehydrogenase Deficiency

Anatomical Context for 6-Phosphogluconate Dehydrogenase Deficiency

Publications for 6-Phosphogluconate Dehydrogenase Deficiency

Articles related to 6-Phosphogluconate Dehydrogenase Deficiency:

# Title Authors PMID Year
1
6-Phosphogluconate dehydrogenase deficiency in an Italian family. 61
11233775 2001
2
A NEW INHERITED ENZYMATIC DEFICIENCY OF HUMAN ERYTHROCYTES: 6-PHOSPHOGLUCONATE DEHYDROGENASE DEFICIENCY. 61
14250427 1964

Variations for 6-Phosphogluconate Dehydrogenase Deficiency

Expression for 6-Phosphogluconate Dehydrogenase Deficiency

Search GEO for disease gene expression data for 6-Phosphogluconate Dehydrogenase Deficiency.

Pathways for 6-Phosphogluconate Dehydrogenase Deficiency

GO Terms for 6-Phosphogluconate Dehydrogenase Deficiency

Biological processes related to 6-Phosphogluconate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.26 PGD G6PD
2 pentose-phosphate shunt GO:0006098 9.16 PGD G6PD
3 pentose-phosphate shunt, oxidative branch GO:0009051 8.96 PGD G6PD
4 pentose biosynthetic process GO:0019322 8.62 PGD G6PD

Molecular functions related to 6-Phosphogluconate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.96 PGD G6PD
2 NADP binding GO:0050661 8.62 PGD G6PD

Sources for 6-Phosphogluconate Dehydrogenase Deficiency

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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