6-@PHOSPHOGLUCONOLACTONASE DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: PGL DEFICIENCY
PGLS DEFICIENCY
6&#64
Number of Symptoms 3
OrphanetNr:
OMIM Id: 172150
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:0001878) Hemolytic anemia 83 / 7739
2
(OMIM) 6-Phosphogluconolactonase deficiency 1 / 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 Beutler et al. (1985) found a family segregating for partial deficiency of 6-phosphogluconolactonase (PGLS; 604951) as an autosomal dominant trait. Hemolytic anemia occurred in a 14-month-old girl who was heterozygous for G6PD deficiency of nonhemolytic type and for ...