MCID: 6PH002
MIFTS: 9

6-Phosphogluconolactonase Deficiency

Aliases & Classifications for 6-Phosphogluconolactonase Deficiency

MalaCards integrated aliases for 6-Phosphogluconolactonase Deficiency:

Name: 6-Phosphogluconolactonase Deficiency 57 70
Pgls Deficiency 57
6pgl Deficiency 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
6-phosphogluconolactonase deficiency:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 172150
MedGen 41 C1868355
SNOMED-CT via HPO 68 263681008 61261009
UMLS 70 C1868355

Summaries for 6-Phosphogluconolactonase Deficiency

MalaCards based summary : 6-Phosphogluconolactonase Deficiency, also known as pgls deficiency, is related to hemolytic anemia. An important gene associated with 6-Phosphogluconolactonase Deficiency is PGD (Phosphogluconate Dehydrogenase). Related phenotype is hemolytic anemia.

More information 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 hemolytic anemia 10.1

Symptoms & Phenotypes for 6-Phosphogluconolactonase Deficiency

Human phenotypes related to 6-Phosphogluconolactonase Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 31 HP:0001878

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Heme:
hemolytic anemia

Lab:
6-phosphogluconolactonase deficiency

Misc:
interaction of 6pgl deficiency with g6pd variant

Clinical features from OMIM®:

172150 (Updated 05-Apr-2021)

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

Publications for 6-Phosphogluconolactonase Deficiency

Articles related to 6-Phosphogluconolactonase Deficiency:

# Title Authors PMID Year
1
6-Phosphogluconolactonase deficiency, a hereditary erythrocyte enzyme deficiency: possible interaction with glucose-6-phosphate dehydrogenase deficiency. 57 61
3858849 1985

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

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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