raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:422519

OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency

inactive · referred to ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

Synonyms: OBSOLETE: PHGDH deficiency

Type
Category
Group
Group of disorders
Status
inactive
Flag
Obsolete entity

This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: 3-Phosphoglycerate dehydrogenase deficiencyOBSOLETE: PHGDH deficiency
frOBSOLETE : Déficit en 3-phosphoglycerate déshydrogénaseOBSOLETE : Déficit en PHGDH
deOBSOLET: 3-Phosphoglycerat-Dehydrogenase-MangelOBSOLET: 3-PGDH-Mangel
esOBSOLETO: Deficiencia de 3-fosfoglicerato deshidrogenasaOBSOLETO: Deficiencia de PHGDH
itOBSOLETO: Deficit di 3-fosfoglicerato deidrogenasiOBSOLETO: Deficit di PHGDH
nlOBSOLEET: Deficiëntie van 3-fosfoglyceraatdehydrogenaseOBSOLEET: PHGDH-deficiëntie
ptOBSOLETO: Deficiência de 3-fosfoglicerato desidrogenase
plNIEAKTUALNE: Niedobór dehydrogenazy 3-fosfoglicerynianu= en
csNEAKTUÁLNÍ: Deficit 3-fosfogycerátdehydrogeázy= en
ukЗАСТАРІЛО: Дефіцит 3-фосфогліцератдегідрогеназиЗАСТАРІЛО: дефіцит PHGDH
zh弃用:3-磷酸​​甘油酸脱氢酶缺乏症PHGDH缺乏
trEski adı: 3-Fosfogliserat dehidrogenaz eksikliğiPHGDH eksikliği
2

Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

3

Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card