ORPHA:183678
Hermansky-Pudlak syndrome due to AP-3 deficiency
Synonyms: Hermansky-Pudlak syndrome due to adaptor protein 3 complex deficiency · Hermansky-Pudlak syndrome with neutropenia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A form of Hermansky-Pudlak syndrome (HPS) characterized by oculocutaneous albinism, bleeding diathesis, neutropenia, and in some cases, pulmonary fibrosis, neurologic involvement, or hearing loss.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hermansky-Pudlak syndrome due to AP-3 deficiency | Hermansky-Pudlak syndrome due to adaptor protein 3 complex deficiency · Hermansky-Pudlak syndrome with neutropenia |
| fr | Syndrome de Hermansky-Pudlak par déficit en AP-3 | Syndrome de Hermansky-Pudlak avec neutropénie · Syndrome de Hermansky-Pudlak dû à un déficit du complexe de protéines adaptatrices 3 |
| de | Hermansky-Pudlak-Syndrom durch AP-3-Defizienz | Hermansky-Pudlak-Syndrom durch Adaptorprotein-3-Komplex-Mangel · Hermansky-Pudlak-Syndrom mit Neutropenie |
| es | Síndrome de Hermansky-Pudlak por deficiencia de AP-3 | Síndrome de Hermansky-Pudlak con neutropenia · Síndrome de Hermansky-Pudlak por deficiencia del complejo de la proteína adaptadora 3 |
| it | Sindrome di Hermansky-Pudlak da deficit di AP-3 | Sindrome di Hermansky-Pudlak da deficit del complesso della proteina adattatrice 3 · Sindrome di Hermansky-Pudlak con neutropenia |
| nl | Syndroom van Hermansky-Pudlak door deficiëntie van AP-3 | Syndroom van Hermansky-Pudlak door deficiëntie van adaptatorproteïne complex 3 · Syndroom van Hermansky-Pudlak met neutropenie |
| pt | Síndrome Hermansky-Pudlak por deficiência AP-3 | Síndrome Hermansky-Pudlak com neutropenia · Síndrome Hermansky-Pudlak devido à deficiência relacionada com o adaptador ao complexo proteico 3 |
| pl | Zespół Hermansky'ego i Pudlaka z neutropenią | HPS2 · Zespół Hermansky'ego i Pudlaka typu 2 · Zespół Hermanskiego-Pudlaka spowodowany niedoborem AP-3 |
| cs | Heřmanského-Pudlákův syndrom způsobený deficitem AP-3 | HPS2 · Syndrom Heřmanského-Pudláka, typ 2 · Heřmanského-Pudlákův syndrom s neutropenií · Heřmanský-Pudlákův syndrom způsobený deficitem AP-3 · Heřmansky-Pudlákův syndrom s neutropenií · Syndrom Heřmansky-Pudláka, typ 2 |
| uk | Синдром Германського-Пудлака внаслідок дефіциту AP-3 | Синдром Германського-Пудлака, спричинений дефіцитом адаптантного білкового комплексу 3 · Синдром Германського-Пудлака з нейтропенією · Синдром Германського-Пудлака з дефіцитом адаптерного білкового комплексу 3 |
| zh | 赫曼斯基-普德拉克综合征伴中性粒细胞减少 | 赫曼斯基-普德拉克综合征2型 |
| tr | Nötropeni ile seyreden Hermansky-Pudlak sendromu | HPS2 · Hermansky-Pudlak sendromu tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608233 | BTNT | validated | |
| OMIM | 617050 | BTNT | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.20 | NTBT | index | validated |
| UMLS | C1842362 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79430Hermansky-Pudlak syndrome
rare inborn errors of metabolism; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare ophthalmic disorders; rare hematological diseases; rare transplant-related disorders - ORPHA:331249Primary hemophagocytic lymphohistiocytosis with hypopigmentation
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 29580292[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29580292[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.
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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/183678
- This record as JSON: /data/d/183678.json