raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:79506

OBSOLETE: Cholesterol-ester transfer protein deficiency

inactive · referred to ORPHA:181428Familial Hyperalphalipoproteinemia

Synonyms: OBSOLETE: CEPT deficiency · OBSOLETE: Familial hyperalphalipoproteinemia type I

Type
Disease
Group
Disorder
Status
inactive
Flag
Obsolete entity

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

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Cholesterol-ester transfer protein deficiencyOBSOLETE: CEPT deficiency · OBSOLETE: Familial hyperalphalipoproteinemia type I
frOBSOLETE : Déficit en protéine de transfert des esters de cholestérolOBSOLETE : Déficit en CEPT · OBSOLETE : Hyperalphalipoprotéinémie familiale de type I
deOBSOLET: Cholesterinester-Transferprotein-MangelOBSOLET: CEPT-Mangel · OBSOLET: Hyperalphalipoproteinämie, familiäre, Typ 1
esOBSOLETO: Deficiencia de proteína colesterol ester transferasaOBSOLETO: Deficiencia de CEPT · OBSOLETO: Hiperalfalipoproteinemia familiar tipo I
itOBSOLETO: Deficit della proteina di trasferimento degli esteri del colesteroloOBSOLETO: Deficit di CEPT · OBSOLETO: Iperalfalipoproteinemia familiare
nlOBSOLEET: CholesterolestertransfereiwitdeficiëntieOBSOLEET: CEPT-deficiëntie · OBSOLEET: Familiale hyperalfalipoproteïnemie
ptOBSOLETO: Deficiência de proteína de transferência de ésteres de colesterolOBSOLETO: Deficiência de CEPT · OBSOLETO: Hiperalfalipoproteinemia familiar
plNIEAKTUALNE: Niedobór białka transportującego estry cholesterolu= en
csNEAKTUÁLNÍ: Deficit cholesterol-ester-transportního proteinuNEAKTUÁLNÍ: CEPT deficit · NEAKTUÁLNÍ: Familiární hyperalfalipoproteinémie
ukДефіцит холестерин-ефірного транспортераДефіцит CEPT · Сімейна гіперальфаліпопротеїнемія I типу
zh胆固醇酯转运蛋白缺乏症家族性高α脂蛋白血症
trKolesterol-ester transfer protein eksikliğiCEPT eksikliği · Ailesel hiperalfalipoproteinemi
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