HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: GLYOXALASE II DEFICIENCY
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614033
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0004445) Elliptocytosis 15 / 7739
2
 (HPO:0003258) Glyoxalase deficiency 2 / 7739
3
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Valentine et al. (1970) described a family in which homozygotes and heterozygotes for deficiency of glyoxalase II (hydroxyacyl-glutathione hydrolase; HAGH; 138760) were demonstrated in 3 generations. Homozygotes had no clinical or hematologic abnormality, and elliptocytosis (which was segregating ...