raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:646

Niemann-Pick disease type C

Type
Disease
Group
Disorder
Inheritance
Autosomal recessive
Age of onset
All ages
Status
active

A rare lysosomal lipid storage disease characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enNiemann-Pick disease type C
frMaladie de Niemann-Pick type C
deNiemann-Pick-Krankheit Typ C
esEnfermedad de Niemann-Pick tipo C
itMalattia di Niemann-Pick, tipo C
nlZiekte van Niemann-Pick type C
ptDoença de Niemann-Pick C
plChoroba Niemanna i Picka typu C
csNiemannova-Pickova nemoc, typ CNiemann-Pickova nemoc, typ C
ukХвороба Німана-Піка, тип С
zhNiemann-Pick病C型
trNiemann-Pick hastalığı C tipi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM257220Evalidated
OMIM607625BTNTvalidated
ICD-10E75.2NTBTinclusionvalidated
ICD-115C56.0YNTBTindexvalidated
MONDO0018982Evalidated
MeSHD052556Evalidated
UMLSC0220756Evalidated
GARD7207Evalidated

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 (9):

Children (5):

Codes that Orphanet moved or referred to this one:

4

Genes

0 direct · 10 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

GeneSubtypeAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
NPC1ORPHA:216972Niemann-Pick disease type C, severe perinatal formDisease-causing germline mutation(s) inAssessedHGNC:7897ENSG0000014145860762318q11.2NPC intracellular cholesterol transporter 120301473[PMID]
NPC1ORPHA:216975Niemann-Pick disease type C, severe early infantile neurologic onsetDisease-causing germline mutation(s) inAssessedHGNC:7897ENSG0000014145860762318q11.2NPC intracellular cholesterol transporter 120301473[PMID]
NPC1ORPHA:216978Niemann-Pick disease type C, late infantile neurologic onsetDisease-causing germline mutation(s) inAssessedHGNC:7897ENSG0000014145860762318q11.2NPC intracellular cholesterol transporter 120301473[PMID]
NPC1ORPHA:216981Niemann-Pick disease type C, juvenile neurologic onsetDisease-causing germline mutation(s) inAssessedHGNC:7897ENSG0000014145860762318q11.2NPC intracellular cholesterol transporter 120301473[PMID]
NPC1ORPHA:216986Niemann-Pick disease type C, adult neurologic onsetDisease-causing germline mutation(s) inAssessedHGNC:7897ENSG0000014145860762318q11.2NPC intracellular cholesterol transporter 120301473[PMID]
NPC2ORPHA:216972Niemann-Pick disease type C, severe perinatal formDisease-causing germline mutation(s) inAssessedHGNC:14537ENSG0000011965560101514q24.3NPC intracellular cholesterol transporter 220301473[PMID]
NPC2ORPHA:216975Niemann-Pick disease type C, severe early infantile neurologic onsetDisease-causing germline mutation(s) inAssessedHGNC:14537ENSG0000011965560101514q24.3NPC intracellular cholesterol transporter 220301473[PMID]
NPC2ORPHA:216978Niemann-Pick disease type C, late infantile neurologic onsetDisease-causing germline mutation(s) inAssessedHGNC:14537ENSG0000011965560101514q24.3NPC intracellular cholesterol transporter 220301473[PMID]
NPC2ORPHA:216981Niemann-Pick disease type C, juvenile neurologic onsetDisease-causing germline mutation(s) inAssessedHGNC:14537ENSG0000011965560101514q24.3NPC intracellular cholesterol transporter 220301473[PMID]
NPC2ORPHA:216986Niemann-Pick disease type C, adult neurologic onsetDisease-causing germline mutation(s) inAssessedHGNC:14537ENSG0000011965560101514q24.3NPC intracellular cholesterol transporter 220301473[PMID]
5

Prevalence and incidence

9 records
TypeClassValueAreaQualificationValidationSource
Point prevalence1-9 / 100 0001 / 100 000EuropeValue and classValidated20525256[PMID]_European Medicines Agency 2011[OTHER]
Prevalence at birth1-9 / 1 000 0000.77 / 100 000FranceValue and classValidated20525256[PMID]_12974729[PMID]_[EXPERT]
Prevalence at birth1-9 / 1 000 0000.75 / 100 000United KingdomValue and classNot yet validated12974729[PMID]
Prevalence at birth1-9 / 1 000 0000.75 / 100 000GermanyValue and classNot yet validated12974729[PMID]
Prevalence at birth1-9 / 1 000 0000.35 / 100 000NetherlandsValue and classValidated10480370[PMID]
Prevalence at birth1-9 / 100 0002.2 / 100 000PortugalValue and classValidated14685153[PMID]
Prevalence at birth1-9 / 1 000 0000.47 / 100 000AustraliaValue and classValidated9918480[PMID]
Prevalence at birth1-9 / 1 000 0000.91 / 100 000Czech RepublicValue and classValidated20490927[PMID]
Prevalence at birth1-9 / 1 000 0000.48 / 100 000SwedenValue and classValidated25274184[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

82 annotations · validated 2020-04-06
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0001392Abnormality of the liver
HP:0000708Atypical behavior
HP:0002015Dysphagia
HP:0001288Gait disturbance
HP:0002240Hepatomegaly
HP:0000952Jaundice
HP:0003349Low cholesterol esterification rate
HP:0001268Mental deterioration
HP:0002344Progressive neurologic deterioration
HP:0000511Vertical supranuclear gaze palsy
Frequent (79-30%)
HP:0011446Abnormality of higher mental function
HP:0100022Abnormality of movement
HP:0002167Abnormality of speech or vocalization
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0001251Ataxia
HP:0002530Axial dystonia
HP:0004333Bone-marrow foam cells
HP:0100543Cognitive impairment
HP:0001260Dysarthria
HP:0001618Dysphonia
HP:0001332Dystonia
HP:0011968Feeding difficulties
HP:0003651Foam cells
HP:0000365Hearing impairment
HP:0002451Limb dystonia
HP:0007240Progressive gait ataxia
HP:0001250Seizure
HP:0001744Splenomegaly
Occasional (29-5%)
HP:0011400Abnormal CNS myelination
HP:0007256Abnormal pyramidal sign
HP:0012433Abnormal social behavior
HP:0000718Aggressive behavior
HP:0000741Apathy
HP:0008765Auditory hallucinations
HP:0002524Cataplexy
HP:0006855Cerebellar vermis atrophy
HP:0002059Cerebral atrophy
HP:0002072Chorea
HP:0002312Clumsiness
HP:0000722Compulsive behaviors
HP:0000750Delayed speech and language development
HP:0000726Dementia
HP:0000716Depression
HP:0002376Developmental regression
HP:0000734Disinhibition
HP:0007359Focal-onset seizure
HP:0002359Frequent falls
HP:0011471Gastrostomy tube feeding in infancy
HP:0002197Generalized-onset seizure
HP:0001263Global developmental delay
HP:0001433Hepatosplenomegaly
HP:0002079Hypoplasia of the corpus callosum
HP:0001252Hypotonia
HP:0001249Intellectual disability
HP:0002080Intention tremor
HP:0002415Leukodystrophy
HP:0000744Low frustration tolerance
HP:0002061Lower limb spasticity
HP:0011369Mongolian blue spot
HP:0001336Myoclonus
HP:0030050Narcolepsy
HP:0000709Psychosis
HP:0100753Schizophrenia
HP:0002360Sleep abnormality
HP:0001328Specific learning disability
HP:0011098Speech apraxia
HP:0001337Tremor
HP:0002493Upper motor neuron dysfunction
HP:0002367Visual hallucinations
Very rare (<4-1%)
HP:0002088Abnormal lung morphology
HP:0001541Ascites
HP:0011951Aspiration pneumonia
HP:0007302Bipolar affective disorder
HP:0007108Demyelinating peripheral neuropathy
HP:0001791Fetal ascites
HP:0006913Frontal cortical atrophy
HP:0001399Hepatic failure
HP:0001789Hydrops fetalis
HP:0002113Pulmonary infiltrates
HP:0002878Respiratory failure
HP:0002093Respiratory insufficiency
HP:0002133Status epilepticus

Run the differential on the 10 obligate / very frequent terms

Annotation source: 20301473[PMID]_30285904[PMID]_30205942[PMID]_20525256[PMID]_23760316[PMID]_12873889[PMID]

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Sources for this card