ORPHA:216981
Niemann-Pick disease type C, juvenile neurologic onset
Synonyms: Niemann-Pick disease type C, classic form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent
- Status
- active
This disease is described under Niemann-Pick disease type C
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Niemann-Pick disease type C, juvenile neurologic onset | Niemann-Pick disease type C, classic form |
| fr | Maladie de Niemann-Pick type C, forme neurologique juvénile | Maladie de Niemann-Pick type C, forme classique |
| de | Niemann-Pick-Krankheit Typ C, juvenile neurologische Form | Niemann-Pick-Krankheit Typ C, klassische Form |
| es | Enfermedad de Niemann-Pick tipo C, forma neurológica juvenil | Enfermedad de Niemann-Pick tipo C, forma clásica |
| it | Malattia di Niemann-Pick tipo C, con insorgenza giovanile del quadro neurologico | Malattia di Niemann-Pick tipo C, forma classica |
| nl | Ziekte van Niemann-Pick type C, juveniele neurologische aanvang | Ziekte van Niemann-Pick type C, klassieke vorm |
| pt | Doença de Niemann-Pick tipo C com apresentação neurológica juvenil | |
| pl | Choroba Niemanna i Picka typu C, postać młodzieńcza o początku neurologicznym | Choroba Niemanna i Picka typu C, postać klasyczna |
| cs | Niemannova-Pickova nemoc, typ C, juvenilní neurologická manifestace/nástup | Niemannova-Pickova nemoc, typ C, klasická forma · Niemann-Pickova nemoc, typ C, juvenilní neurologická manifestace/nástup · Niemann-Pickova nemoc, typ C, klasická forma |
| uk | Хвороба Німана-Піка, тип С, ювенільний неврологічний початок | Хвороба Німана-Піка, тип С, класична форма |
| zh | 神经系统起病的青少年期尼曼-皮克病C型 | 典型尼曼-皮克病C型 |
| tr | Niemann-Pick hastalığı tip C, juvenil nörolojik başlangıçlı | Niemann-Pick hastalığı tip C, klasik form |
2
Cross-references
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 | 0016309 | E | validated | |
| UMLS | C5679813 | E | validated |
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.
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Genes
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] |
5
Prevalence and incidence
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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/216981
- This record as JSON: /data/d/216981.json