MCID: 6PH002
MIFTS: 10

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, is also known as 6-phosphogluconolactonase. An important gene associated with 6-Phosphogluconolactonase Deficiency is PGD (Phosphogluconate Dehydrogenase). Related phenotype is hemolytic anemia.

Description from OMIM: 172150

Related Diseases for 6-Phosphogluconolactonase Deficiency

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

Publications for 6-Phosphogluconolactonase Deficiency

Articles related to 6-Phosphogluconolactonase Deficiency:

# Title Authors Year
1
6-Phosphogluconolactonase deficiency, a hereditary erythrocyte enzyme deficiency: possible interaction with glucose-6-phosphate dehydrogenase deficiency. ( 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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