ORPHA:99135
6-phosphogluconate dehydrogenase deficiency
- Type
- Disease
- Group
- Disorder
- Status
- active
A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 6-phosphogluconate dehydrogenase deficiency | |
| fr | Déficit en 6-phosphogluconate déshydrogénase | |
| de | 6-Phosphogluconat-Dehydrogenase-Mangel | |
| es | Deficiencia de 6-fosfogluconato deshidrogenasa | |
| it | Deficit di 6-fosfogluconato deidrogenasi | |
| nl | 6-fosfogluconaatdehydrogenasedeficiëntie | |
| pt | Deficiência de 6-fosfogluconato desidrogenase | |
| pl | Niedobór dehydrogenazy 6-fosfoglukonianu | |
| cs | Deficit 6-fosfoglukonát dehydrogenázy | |
| uk | Дефіцит 6-фосфоглюконатдегідрогенази | |
| zh | 6-磷酸葡糖酸脱氢酶缺乏 | |
| tr | 6-fosfoglukonat dehidrojenaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619199 | E | validated | |
| ICD-10 | D55.1 | NTBT | attributed | validated |
| ICD-11 | 3A10.0Y | NTBT | index | validated |
| MONDO | 0020457 | E | validated | |
| UMLS | C5543091 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98370Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
rare genetic diseases; rare hematological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99135
- This record as JSON: /data/d/99135.json