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 40
Glyoxalase Ii Deficiency 57 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hydroxyacyl glutathione hydrolase deficiency:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 614033
MedGen 42 C3279657
UMLS 73 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 phenotypes are glyoxalase deficiency and elliptocytosis

Description 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 9.8

Symptoms & Phenotypes for Hydroxyacyl Glutathione Hydrolase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Hematology:
elliptocytosis (in some patients, segregated independently)

Laboratory Abnormalities:
glyoxalase deficiency


Clinical features from OMIM:

614033

Human phenotypes related to Hydroxyacyl Glutathione Hydrolase Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 glyoxalase deficiency 32 HP:0003258
2 elliptocytosis 32 HP:0004445

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 Year
1
Erythrocyte glyoxalase II deficiency with coincidental hereditary elliptocytosis. ( 5485124 )
1970

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 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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