ORPHA:216975

Niemann-Pick disease type C, severe early infantile neurologic onset

This disease is described under Niemann-Pick disease type C

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Niemann-Pick disease type C, severe early infantile neurologic onset
fr	Maladie de Niemann-Pick type C sévère, forme neurologique précoce de l'enfant
de	Niemann-Pick-Krankheit Typ C, schwere früh-infantile neurologische Form
es	Enfermedad de Niemann-Pick tipo C, forma neurológica grave de inicio en la primera infancia
it	Malattia di Niemann-Pick tipo C, con insorgenza infantile precoce grave del quadro neurologico
nl	Ziekte van Niemann-Pick type C, ernstig met vroeg infantiele neurologische aanvang
pt	Doença de Niemann-Pick tipo C, com apresentação neurológica grave precoce do latente
pl	Choroba Niemanna i Picka typu C, ciężka postać wczesnodziecięca o początku neurologicznym
cs	Niemannova-Pickova nemoc, typ C, těžká časně infantilní neurologická manifestace/nástup	Niemann-Pickova nemoc, typ C, těžká časně infantilní neurologická manifestace/nástup
uk	Хвороба Німана-Піка, тип С, важкий ранній інфантильний неврологічний початок
zh	重度神经系统起病的婴儿早期尼曼-皮克病C型
tr	Niemann-Pick hastalığı tip C, ağır erken infantil nörolojik başlangıçlı

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	E75.2	NTBT	attributed	validated
ICD-11	5C56.0Y	NTBT	index	validated
MONDO	0016307	E		validated
UMLS	C5680868	E		validated

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

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.

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
NPC1	Disease-causing germline mutation(s) in	Assessed	HGNC:7897	ENSG00000141458	607623	18q11.2	NPC intracellular cholesterol transporter 1	20301473[PMID]
NPC2	Disease-causing germline mutation(s) in	Assessed	HGNC:14537	ENSG00000119655	601015	14q24.3	NPC intracellular cholesterol transporter 2	20301473[PMID]

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

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

Orphanet has no HPO annotation for this code in this release.