ORPHA:216986
Niemann-Pick disease type C, adult neurologic onset
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- 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, adult neurologic onset | |
| fr | Maladie de Niemann-Pick type C, forme neurologique de l'adulte | |
| de | Niemann-Pick-Krankheit Typ C, adulte neurologische Form | |
| es | Enfermedad de Niemann-Pick tipo C, forma neurológica del adulto | |
| it | Malattia di Niemann-Pick tipo C, con insorgenza del quadro neurologico nell'adulto | |
| nl | Ziekte van Niemann-Pick type C, volwassen neurologische aanvang | |
| pt | Doença de Niemann-Pick tipo C com apresentação neurológica no adulto | |
| pl | Choroba Niemanna i Picka typu C, postać dorosła o początku neurologicznym | |
| cs | Niemannova-Pickova nemoc, typ C, neurologická manifestace/nástup v dospělosti | Niemann-Pickova nemoc, typ C, neurologická manifestace/nástup v dospělosti |
| uk | Хвороба Німана-Піка, тип С, неврологічний початок у дорослих | |
| zh | 神经系统起病的成人期尼曼-皮克病C型 | |
| tr | Niemann-Pick hastalığı tip C, yetişkin nörolojik başlangıçlı |
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 | 0016310 | E | validated | |
| UMLS | C5680869 | 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.
4
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
0 recordsNo prevalence record in this release.
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/216986
- This record as JSON: /data/d/216986.json