MCID: 6PH002
MIFTS: 17

6-Phosphogluconolactonase Deficiency

Aliases & Classifications for 6-Phosphogluconolactonase Deficiency

MalaCards integrated aliases for 6-Phosphogluconolactonase Deficiency:

Name: 6-Phosphogluconolactonase Deficiency 57 73
6-Phosphogluconolactonase 13
Pgls Deficiency 57
6pgl Deficiency 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
6-phosphogluconolactonase deficiency:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 172150
MedGen 42 C1868355
SNOMED-CT via HPO 69 263681008 61261009
UMLS 73 C1868355

Summaries for 6-Phosphogluconolactonase Deficiency

MalaCards based summary : 6-Phosphogluconolactonase Deficiency, also known as 6-phosphogluconolactonase, is related to paragangliomas 3 and 6-phosphogluconate dehydrogenase deficiency. An important gene associated with 6-Phosphogluconolactonase Deficiency is PGD (Phosphogluconate Dehydrogenase). Affiliated tissues include liver, and related phenotype is hemolytic anemia.

Description from OMIM: 172150

Related Diseases for 6-Phosphogluconolactonase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 paragangliomas 3 10.1
2 6-phosphogluconate dehydrogenase deficiency 10.1

Symptoms & Phenotypes for 6-Phosphogluconolactonase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Heme:
hemolytic anemia

Lab:
6-phosphogluconolactonase deficiency

Misc:
interaction of 6pgl deficiency with g6pd variant


Clinical features from OMIM:

172150

Human phenotypes related to 6-Phosphogluconolactonase Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 32 HP:0001878

Drugs & Therapeutics for 6-Phosphogluconolactonase Deficiency

Search Clinical Trials , NIH Clinical Center for 6-Phosphogluconolactonase Deficiency

Genetic Tests for 6-Phosphogluconolactonase Deficiency

Anatomical Context for 6-Phosphogluconolactonase Deficiency

MalaCards organs/tissues related to 6-Phosphogluconolactonase Deficiency:

41
Liver

Publications for 6-Phosphogluconolactonase Deficiency

Articles related to 6-Phosphogluconolactonase Deficiency:

(show all 29)
# Title Authors Year
1
Plasmodium falciparum glucose-6-phosphate dehydrogenase 6-phosphogluconolactonase is a potential drug target. ( 26198663 )
2015
2
Enterococcus faecalis 6-phosphogluconolactonase is required for both commensal and pathogenic interactions with Manduca sexta. ( 25385794 )
2015
3
Dual-targeting of Arabidopsis 6-phosphogluconolactonase 3 (PGL3) to chloroplasts and peroxisomes involves interaction with Trx m2 in the cytosol. ( 24008768 )
2014
4
Insights into internal dynamics of 6-phosphogluconolactonase from Trypanosoma brucei studied by nuclear magnetic resonance and molecular dynamics. ( 22275079 )
2012
5
High-throughput screening for small-molecule inhibitors of plasmodium falciparum glucose-6-phosphate dehydrogenase 6-phosphogluconolactonase. ( 22496096 )
2012
6
Discovery of a Plasmodium falciparum glucose-6-phosphate dehydrogenase 6-phosphogluconolactonase inhibitor (R,Z)-N-((1-ethylpyrrolidin-2-yl)methyl)-2-(2-fluorobenzylidene)-3-oxo-3,4-dihydro-2H-benzo[b][1,4]thiazine-6-carboxamide (ML276) that reduces parasite growth in vitro. ( 22813531 )
2012
7
Glucose-6-phosphate dehydrogenase-6-phosphogluconolactonase: a unique bifunctional enzyme from Plasmodium falciparum. ( 21443518 )
2011
8
Insights into the enzymatic mechanism of 6-phosphogluconolactonase from Trypanosoma brucei using structural data and molecular dynamics simulation. ( 19345229 )
2009
9
Listeria monocytogenes 6-Phosphogluconolactonase mutants induce increased activation of a host cytosolic surveillance pathway. ( 19398547 )
2009
10
Expression, crystallization and preliminary X-ray crystallographic analysis of Xoo2316, a predicted 6-phosphogluconolactonase, from Xanthomonas oryzae pv. oryzae. ( 18997330 )
2008
11
Escherichia coli ORF ybhE is pgl gene encoding 6-phosphogluconolactonase (EC 3.1.1.31) that has no homology with known 6PGLs from other organisms. ( 15766779 )
2005
12
Identification of the Escherichia coli K-12 ybhE gene as pgl, encoding 6-phosphogluconolactonase. ( 15576773 )
2004
13
A unique insertion in Plasmodium berghei glucose-6-phosphate dehydrogenase-6-phosphogluconolactonase: evolutionary and functional studies. ( 12615331 )
2003
14
Backbone H(N), N, C(alpha), C', and C(beta) assignment of the 6-phosphogluconolactonase, a 266-residue enzyme of the pentose-phosphate pathway from human parasite Trypanosoma brucei. ( 12652137 )
2003
15
Glucose-6-phosphate dehydrogenase-6-phosphogluconolactonase. A novel bifunctional enzyme in malaria parasites. ( 11277923 )
2001
16
Molecular characterization of the first two enzymes of the pentose-phosphate pathway of Trypanosoma brucei. Glucose-6-phosphate dehydrogenase and 6-phosphogluconolactonase. ( 10867008 )
2000
17
The Pseudomonas aeruginosa devB/SOL homolog, pgl, is a member of the hex regulon and encodes 6-phosphogluconolactonase. ( 10869070 )
2000
18
A spectrophotometric assay for 6-phosphogluconolactonase involving the use of immobilized enzymes to prepare the labile 6-phosphoglucono-delta-lactone substrate. ( 3223913 )
1988
19
Purification of 6-phosphogluconolactonase from bass (Dicentrarchus labrax L.)liver. ( 3245836 )
1988
20
Kinetic properties from bass liver 6-phosphogluconolactonase. ( 3382425 )
1988
21
6-Phosphogluconolactonase. ( 3581437 )
1987
22
Computer simulation of the metabolic consequences of the combined deficiency of 6-phosphogluconolactonase and glucose-6-phosphate dehydrogenase in human erythrocytes. ( 3598338 )
1987
23
6-Phosphogluconolactonase deficiency, a hereditary erythrocyte enzyme deficiency: possible interaction with glucose-6-phosphate dehydrogenase deficiency. ( 3858849 )
1985
24
6-phosphogluconolactonase. Purification, properties and activities in various tissues. ( 6852020 )
1983
25
Demonstration of 6-phosphogluconolactonase activity in Drosophila melanogaster using a null allele of 6-phosphogluconate dehydrogenase. ( 105716 )
1978
26
Rat liver 6-phosphogluconolactonase: a low Km enzyme. ( 971315 )
1976
27
Glucose metabolism in 6 phosphogluconolactonase mutants of Escherichia coli. ( 4552019 )
1972
28
6-phosphogluconolactonase mutants of Escherichia coli and a maltose blue gene. ( 4902810 )
1969
29
Purification of 6-phosphogluconolactonase from rat liver and yeast; its separation from gluconolactonase. ( 14454532 )
1962

Variations for 6-Phosphogluconolactonase Deficiency

Expression for 6-Phosphogluconolactonase Deficiency

Search GEO for disease gene expression data for 6-Phosphogluconolactonase Deficiency.

Pathways for 6-Phosphogluconolactonase Deficiency

GO Terms for 6-Phosphogluconolactonase Deficiency

Sources for 6-Phosphogluconolactonase Deficiency

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