raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:216972

Niemann-Pick disease type C, severe perinatal form

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Autosomal recessive
Age of onset
Antenatal, Neonatal
Status
active

This disease is described under Niemann-Pick disease type C

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enNiemann-Pick disease type C, severe perinatal form
frMaladie de Niemann-Pick type C, forme périnatale sévère
deNiemann-Pick-Krankheit Typ C, schwere perinatale Form
esEnfermedad de Niemann-Pick tipo C, forma perinatal grave
itMalattia di Niemann-Pick tipo C, forma perinatale grave
nlZiekte van Niemann-Pick type C, ernstig perinataal
ptDoença de Niemann-Pick tipo C perinatal grave
plChoroba Niemanna i Picka typu C, ciężka postać prenatalna
csNiemannova-Pickova nemoc, typ C, těžká perinatální formaNiemann-Pickova nemoc, typ C, těžká perinatální forma
ukХвороба Німана-Піка, тип С, тяжка перинатальна форма
zh严重围产期型尼曼-皮克病C型
trNiemann-Pick hastalığı tip C, ağır perinatal form
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10E75.2NTBTattributedvalidated
ICD-115C56.0YNTBTindexvalidated
MONDO0016306Evalidated
UMLSC5680866Evalidated

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):

  • ORPHA:646Niemann-Pick disease type C
    rare inborn errors of metabolism; rare gastroenterological diseases; rare genetic diseases; rare neurological diseases; rare respiratory diseases; rare ophthalmic disorders; rare transplant-related disorders

No children.

4

Genes

2 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
NPC1Disease-causing germline mutation(s) inAssessedHGNC:7897ENSG0000014145860762318q11.2NPC intracellular cholesterol transporter 120301473[PMID]
NPC2Disease-causing germline mutation(s) inAssessedHGNC:14537ENSG0000011965560101514q24.3NPC intracellular cholesterol transporter 220301473[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