ORPHA:79430
Hermansky-Pudlak syndrome
Synonyms: HPS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. The clinical subtypes of Hermansky-Pudlak syndrome (HPS) often present the same clinical phenotype but have different associated complications with varying degrees of severity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hermansky-Pudlak syndrome | HPS |
| fr | Syndrome de Hermansky-Pudlak | SHP |
| de | Hermansky-Pudlak-Syndrom | = en |
| es | Síndrome de Hermansky-Pudlak | = en |
| it | Sindrome di Hermansky-Pudlak | = en |
| nl | Syndroom van Hermansky-Pudlak | = en |
| pt | Síndrome de Hermansky-Pudlak | |
| pl | Zespół Hermansky'ego i Pudlaka | = en |
| cs | Heřmanského-Pudlákův syndrom | HPS · Heřmanský-Pudlákův syndrom |
| uk | Синдром Германського-Пудлака | = en |
| zh | 赫曼斯基-普德拉克综合征 | = en |
| tr | Hermansky-Pudlak sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203300 | BTNT | validated | |
| OMIM | 608233 | BTNT | validated | |
| OMIM | 614072 | BTNT | validated | |
| OMIM | 614073 | BTNT | validated | |
| OMIM | 614074 | BTNT | validated | |
| OMIM | 614075 | BTNT | validated | |
| OMIM | 614076 | BTNT | validated | |
| OMIM | 614077 | BTNT | validated | |
| OMIM | 614171 | BTNT | validated | |
| OMIM | 617050 | BTNT | validated | |
| OMIM | 619172 | BTNT | validated | |
| ICD-10 | E70.3 | NTBT | inclusion | validated |
| ICD-11 | EC23.20 | NTBT | index | validated |
| MONDO | 0019312 | E | validated | |
| MeSH | D022861 | E | validated | |
| UMLS | C0079504 | E | validated | |
| GARD | 6643 | E | validated | |
| MedDRA | 10071775 | 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 (4):
- ORPHA:98456Dense granule disease
rare genetic diseases; rare hematological diseases - ORPHA:309340Disorder of lysosomal-related organelles
rare inborn errors of metabolism; rare genetic diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:284811Syndromic oculocutaneous albinism
rare genetic diseases; rare skin diseases; rare ophthalmic disorders
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Genes
0 direct · 9 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| BLOC1S3 | ORPHA:231531Hermansky-Pudlak syndrome due to BLOC-1 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:20914 | ENSG00000189114 | 609762 | 19q13.32 | biogenesis of lysosomal organelles complex 1 subunit 3 | 16420244[PMID]_27514596[PMID]_20301464[PMID] |
| BLOC1S5 | ORPHA:231531Hermansky-Pudlak syndrome due to BLOC-1 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:18561 | ENSG00000188428 | 607289 | 6p24.3 | biogenesis of lysosomal organelles complex 1 subunit 5 | 16420244[PMID]_27514596[PMID]_20301464[PMID] |
| BLOC1S6 | ORPHA:231531Hermansky-Pudlak syndrome due to BLOC-1 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:8549 | ENSG00000104164 | 604310 | 15q21.1 | biogenesis of lysosomal organelles complex 1 subunit 6 | 16420244[PMID]_27514596[PMID]_20301464[PMID] |
| DTNBP1 | ORPHA:231531Hermansky-Pudlak syndrome due to BLOC-1 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:17328 | ENSG00000047579 | 607145 | 6p22.3 | dystrobrevin binding protein 1 | 12923531[PMID] |
| HPS1 | ORPHA:231500Hermansky-Pudlak syndrome due to BLOC-3 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:5163 | ENSG00000107521 | 604982 | 10q24.2 | HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | |
| HPS3 | ORPHA:231512Hermansky-Pudlak syndrome due to BLOC-2 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:15597 | ENSG00000163755 | 606118 | 3q24 | HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | |
| HPS4 | ORPHA:231500Hermansky-Pudlak syndrome due to BLOC-3 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:15844 | ENSG00000100099 | 606682 | 22q12.1 | HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | |
| HPS5 | ORPHA:231512Hermansky-Pudlak syndrome due to BLOC-2 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:17022 | ENSG00000110756 | 607521 | 11p15.1 | HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 | |
| HPS6 | ORPHA:231512Hermansky-Pudlak syndrome due to BLOC-2 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:18817 | ENSG00000166189 | 607522 | 10q24.32 | HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.15 / 100 000 | Worldwide | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | 55 / 100 000 | Puerto rico | Value and class | Validated | 7573033[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
39 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0002721 | Immunodeficiency | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000639 | Nystagmus | |
| HP:0007443 | Partial albinism | |
| Frequent (79-30%) | ||
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0000646 | Amblyopia | |
| HP:0000483 | Astigmatism | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000518 | Cataract | |
| HP:0000421 | Epistaxis | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0400008 | Menometrorrhagia | |
| HP:0000545 | Myopia | |
| HP:0001107 | Ocular albinism | |
| HP:0000613 | Photophobia | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0000083 | Renal insufficiency | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0001872 | Abnormality of thrombocytes | |
| HP:0002039 | Anorexia | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0001638 | Cardiomyopathy | |
| HP:0002094 | Dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000527 | Long eyelashes | |
| HP:0002024 | Malabsorption | |
| HP:0000995 | Melanocytic nevus | |
| HP:0006739 | Squamous cell carcinoma of the skin | |
| HP:0001072 | Thickened skin | |
| HP:0000505 | Visual impairment | |
| HP:0001824 | Weight loss | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79430
- This record as JSON: /data/d/79430.json