raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:727932

Hypocholesterolemia due to PCSK9 deficiency

Synonyms: Hypocholesterolemia without low LDL cholesterol

Type
Biological anomaly
Group
Disorder
Inheritance
Autosomal dominant
Age of onset
Childhood, Infancy
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enHypocholesterolemia due to PCSK9 deficiencyHypocholesterolemia without low LDL cholesterol
frHypocholestérolémie par déficit en PCSK9Hypocholestérolémie sans faible taux de cholestérol LDL
deHypocholesterinämie durch PCSK9-MangelHypocholesterinämie ohne niedriges LDL-Cholesterin
esHipocolesterolemia por deficiencia de PCSK9Hipocolesterolemia sin niveles bajos de colesterol LDL
itIpocolesterolemia da deficit di PCSK9Ipocolesterolemia senza livelli bassi di colesterolo LDL
nlHypocholesterolemie door PCSK9-deficiëntieHypocholesterolemie zonder laag LDL-cholesterol
ptHypocholesterolemia due to PCSK9 deficiency
plHypocholesterolemia due to PCSK9 deficiency= en
csHypocholesterolemia due to PCSK9 deficiency= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM603776Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
PCSK9Disease-causing germline mutation(s) inAssessedHGNC:20001ENSG000001691746077861p32.3proprotein convertase subtilisin/kexin type 918566665[PMID]
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