raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:79316

OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency

inactive · referred to ORPHA:2880Phosphoenolpyruvate carboxykinase deficiency

Synonyms: OBSOLETE: PEPCK1 deficiency

Type
Etiological subtype
Group
Subtype of disorder
Status
inactive
Flag
Obsolete entity

This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Phosphoenolpyruvate carboxykinase deficiency

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiencyOBSOLETE: PEPCK1 deficiency
frOBSOLETE : Déficit en phosphoénolpyruvate carboxykinase type 1OBSOLETE : Déficit en PEPCK1
deOBSOLET: Phosphoenolpyruvat-Carboxykinase 1-MangelOBSOLET: PEPCK1-Mangel
esOBSOLETO: Deficiencia de fosfoenol piruvato carboxiquinasa 1OBSOLETO: Deficiencia de PEPCK1
itOBSOLETO: Deficit di fosfoenolpiruvato carbossichinasi 1OBSOLETO: Deficit di PEPCK1
nlOBSOLEET: Deficiëntie van fosfo-enolpyruvaat-carboxykinase 1OBSOLEET: PEPCK1-deficiëntie
ptOBSOLETO: Deficiência de fosfoenolpiruvato carboxicinase 1
plNIEAKTUALNE: Niedobór karboksykinazy fosfoenolopirogronianu 1NIEAKTUALNE: Niedobór PEPCK1
csNEAKTUÁLNÍ: Deficit fosfoenolpyruvátkarboxykinázy 1= en
ukЗАСТАРІЛО: Дефіцит фосфоенолпіруваткарбоксикінази 1ЗАСТАРІЛО: дефіцит PEPCK1
zh弃用:烯醇丙酮酸磷酸羧激酶1缺陷症PEPCK1缺乏
trEski adı: Fosfoenolpiruvat karboksikinaz 1 eksikliğiPEPCK1 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