6-@PHOSPHOGLUCONOLACTONASE DEFICIENCY
General Information (adopted from Orphanet):
Synonyms, Signs: |
PGL DEFICIENCY PGLS DEFICIENCY 6@ |
Number of Symptoms | 3 |
OrphanetNr: | |
OMIM Id: |
172150
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001878) | Hemolytic anemia | 83 / 7739 | ||||
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(OMIM) | 6-Phosphogluconolactonase deficiency | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |