MCID: HYD063
MIFTS: 11

Hydroxyacyl Glutathione Hydrolase Deficiency

Aliases & Classifications for Hydroxyacyl Glutathione Hydrolase Deficiency

MalaCards integrated aliases for Hydroxyacyl Glutathione Hydrolase Deficiency:

Name: Hydroxyacyl Glutathione Hydrolase Deficiency 57 29 39
Glyoxalase Ii Deficiency 57 70

Characteristics:

OMIM®:

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


HPO:

31
hydroxyacyl glutathione hydrolase deficiency:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 614033
MedGen 41 C3279657
SNOMED-CT via HPO 68 263681008
UMLS 70 C3279657

Summaries for Hydroxyacyl Glutathione Hydrolase Deficiency

MalaCards based summary : Hydroxyacyl Glutathione Hydrolase Deficiency, also known as glyoxalase ii deficiency, is related to hereditary elliptocytosis. An important gene associated with Hydroxyacyl Glutathione Hydrolase Deficiency is HAGH (Hydroxyacylglutathione Hydrolase). Related phenotype is glyoxalase deficiency.

More information from OMIM: 614033

Related Diseases for Hydroxyacyl Glutathione Hydrolase Deficiency

Diseases related to Hydroxyacyl Glutathione Hydrolase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary elliptocytosis 10.0

Symptoms & Phenotypes for Hydroxyacyl Glutathione Hydrolase Deficiency

Human phenotypes related to Hydroxyacyl Glutathione Hydrolase Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 glyoxalase deficiency 31 HP:0003258

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
glyoxalase deficiency

Hematology:
elliptocytosis (in some patients, segregated independently)

Clinical features from OMIM®:

614033 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hydroxyacyl Glutathione Hydrolase Deficiency

Search Clinical Trials , NIH Clinical Center for Hydroxyacyl Glutathione Hydrolase Deficiency

Genetic Tests for Hydroxyacyl Glutathione Hydrolase Deficiency

Genetic tests related to Hydroxyacyl Glutathione Hydrolase Deficiency:

# Genetic test Affiliating Genes
1 Hydroxyacyl Glutathione Hydrolase Deficiency 29 HAGH

Anatomical Context for Hydroxyacyl Glutathione Hydrolase Deficiency

Publications for Hydroxyacyl Glutathione Hydrolase Deficiency

Articles related to Hydroxyacyl Glutathione Hydrolase Deficiency:

# Title Authors PMID Year
1
Erythrocyte glyoxalase II deficiency with coincidental hereditary elliptocytosis. 57 61
5485124 1970
2
Studies of erythrocyte glyoxalase II in various domestic species: discovery of glyoxalase II deficiency in the horse. 61
6742517 1984

Variations for Hydroxyacyl Glutathione Hydrolase Deficiency

Expression for Hydroxyacyl Glutathione Hydrolase Deficiency

Search GEO for disease gene expression data for Hydroxyacyl Glutathione Hydrolase Deficiency.

Pathways for Hydroxyacyl Glutathione Hydrolase Deficiency

GO Terms for Hydroxyacyl Glutathione Hydrolase Deficiency

Sources for Hydroxyacyl Glutathione Hydrolase 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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