Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Synonyms: HPS with pulmonary fibrosis · Hermansky-Pudlak syndrome with pulmonary fibrosis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of Hermansky-Pudlak syndrome characterized by oculocutaneous albinism, bleeding diathesis and pulmonary fibrosis or granulomatous colitis, but without neutropenia. Hermansky-Pudlak syndrome due to BLOC-3 deficiency has a severe prognosis and includes two genetic etiologies (<i>HPS1</i> and <i>HPS4</i>).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hermansky-Pudlak syndrome due to BLOC-3 deficiency | HPS with pulmonary fibrosis · Hermansky-Pudlak syndrome with pulmonary fibrosis |
| fr | Syndrome de Hermansky-Pudlak par déficit en BLOC-3 | HPS avec fibrose pulmonaire · SHP avec fibrose pulmonaire · Syndrome de Hermansky-Pudlak avec fibrose pulmonaire |
| de | Hermansky-Pudlak-Syndrom durch BLOC-3-Defizienz | HPS mit Lungenfibrose · Hermansky-Pudlak-Syndrom mit pulmonaler Fibrose |
| es | Síndrome de Hermansky-Pudlak por deficiencia de BLOC-3 | HPS con fibrosis pulmonar · Síndrome de Hermansky-Pudlak con fibrosis pulmonar |
| it | Sindrome di Hermansky-Pudlak da deficit di BLOC-3 | HPS con fibrosi polmonare · Sindrome di Hermansky-Pudlak con fibrosi polmonare |
| nl | Syndroom van Hermansky-Pudlak door deficiëntie van BLOC-3 | HPS met longfibrose · Syndroom van Hermansky-Pudlak met longfibrose |
| pt | Síndrome Hermansky-Pudlak por deficiência BLOC-3 | HPS com fibrose pulmonar |
| pl | Zespół Hermansky'ego i Pudlaka z włóknieniem płuc | HPS z włóknieniem płuc · Zespół Hermanskiego-Pudlaka spowodowany niedoborem BLOC-3 |
| cs | Heřmanského-Pudlákův syndrom způsobený deficitem BLOC-3 | HPS s plicní fibrózou · Heřmanského-Pudlákův syndrom s plicní fibrózou · Heřmanský-Pudlákův syndrom způsobený deficitem BLOC-3 · Heřmansky-Pudlákův syndrom s plicní fibrózou |
| uk | Синдром Германського-Пудлака, зумовлений дефіцитом BLOC-3 | Синдром Германського-Пудлака з легеневим фіброзом · ГПС з легеневим фіброзом |
| zh | 赫曼斯基-普德拉克综合征伴肺纤维化 | HPS伴肺纤维化 |
| tr | Pulmoner fibroz ile seyreden Hermansky-Pudlak sendromu | Pulmoner fibroz ile seyreden HPS |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203300 | BTNT | validated | |
| OMIM | 614073 | BTNT | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.20 | NTBT | index | validated |
| MONDO | 0016501 | E | validated | |
| UMLS | C5679834 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- 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:264719Secondary interstitial lung disease specific to childhood associated with a metabolic disease
rare respiratory diseases; rare transplant-related disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HPS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5163 | ENSG00000107521 | 604982 | 10q24.2 | HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | |
| HPS4 | Disease-causing germline mutation(s) in | Assessed | HGNC:15844 | ENSG00000100099 | 606682 | 22q12.1 | HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 |
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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231500
- This record as JSON: /data/d/231500.json