Disease · MONDO_0019312
Hermansky-Pudlak syndrome
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. Hermansky-Pudlak syndrome. Diseases, record MONDO_0019312. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0019312
On this page
Disease
Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.
Drugs10
The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.
| Drug | ChEMBL ID | Type | Open Targets' stage | Stage reported by | Reports | Of them trials | Trials shown here | Source |
|---|---|---|---|---|---|---|---|---|
| BOSENTAN | CHEMBL957 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| LETROZOLE | CHEMBL1444 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| NORFLOXACIN | CHEMBL9 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| SORAFENIB | CHEMBL1336 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| ACETYLCYSTEINE | CHEMBL600 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| ERYTHROMYCIN | CHEMBL532 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| LOSARTAN | CHEMBL191 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| PRAVASTATIN | CHEMBL1144 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| ZILEUTON | CHEMBL93 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| PENTOXIFYLLINE | CHEMBL628 | Small molecule | Phase 1 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
Targets40
The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.
| Target | Protein | Its drugs that act on it | Mechanisms | Highest stage of those drugs | Gene in Genes | Source |
|---|---|---|---|---|---|---|
| ADORA2A | Adenosine A2 receptor | 1 | Adenosine A2 receptor antagonist | Phase 1 | https://conductscience.org/library/genes/135 | Drugs and targets |
| ADORA2B | Adenosine A2 receptor | 1 | Adenosine A2 receptor antagonist | Phase 1 | https://conductscience.org/library/genes/136 | Drugs and targets |
| AGTR1 | Type-1 angiotensin II receptor | 1 | Type-1 angiotensin II receptor antagonist | Phase 1/2 | https://conductscience.org/library/genes/185 | Drugs and targets |
| ALOX5 | Polyunsaturated fatty acid 5-lipoxygenase | 1 | Arachidonate 5-lipoxygenase inhibitor | Phase 1/2 | https://conductscience.org/library/genes/240 | Drugs and targets |
| BRAF | Serine/threonine-protein kinase B-raf | 1 | Serine/threonine-protein kinase B-raf inhibitor | Phase 2 | https://conductscience.org/library/genes/673 | Drugs and targets |
| CYP19A1 | Aromatase | 1 | Cytochrome P450 19A1 inhibitor | Phase 2 | https://conductscience.org/library/genes/1588 | Drugs and targets |
| EDNRA | Endothelin receptor, ET-A/ET-B | 1 | Endothelin receptor, ET-A/ET-B antagonist | Phase 2 | https://conductscience.org/library/genes/1909 | Drugs and targets |
| EDNRB | Endothelin receptor, ET-A/ET-B | 1 | Endothelin receptor, ET-A/ET-B antagonist | Phase 2 | https://conductscience.org/library/genes/1910 | Drugs and targets |
| FLT1 | Vascular endothelial growth factor receptor | 1 | Vascular endothelial growth factor receptor inhibitor | Phase 2 | https://conductscience.org/library/genes/2321 | Drugs and targets |
| FLT3 | Receptor-type tyrosine-protein kinase FLT3 | 1 | Tyrosine-protein kinase receptor FLT3 inhibitor | Phase 2 | https://conductscience.org/library/genes/2322 | Drugs and targets |
1 to 10 of 40
See all 40 targetsTrials6
Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.
| Trial | Title | Phase | Participants | Results first posted | Conditions | Drugs | Linked by | Source |
|---|---|---|---|---|---|---|---|---|
| NCT02021929 | Sorafenib for Hepatopulmonary Syndrome | Phase 2 | 28 | 2019-04-25 | Hepatopulmonary Syndrome | SORAFENIB | Open Targets' reading of its record | ClinicalTrials.gov |
| NCT00467831 | Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome | Phase 1/2 | 3 | 2013-08-02 | Hermansky-Pudlak Syndrome (HPS), Pulmonary Fibrosis, Oculocutaneous Albinism, Platelet Storage Pool Deficiency, Metabolic Disease | ACETYLCYSTEINE, ERYTHROMYCIN, LOSARTAN, PRAVASTATIN, ZILEUTON | Its record names the disease | ClinicalTrials.gov |
| NCT04577001 | Letrozole in Patients With Hepatopulmonary Syndrome | Phase 2 | 1 | 2024-05-14 | Hepatopulmonary Syndrome | LETROZOLE | Open Targets' reading of its record | ClinicalTrials.gov |
| NCT00362752 | A Pilot Study of Norfloxacin for Hepatopulmonary Syndrome | Phase 2 | 9 | Hepatopulmonary Syndrome | NORFLOXACIN | Open Targets' reading of its record | ClinicalTrials.gov | |
| NCT00593658 | Pilot Study of Pentoxifylline for Hepatopulmonary Syndrome | Phase 1 | 9 | Hepatopulmonary Syndrome | PENTOXIFYLLINE | Open Targets' reading of its record | ClinicalTrials.gov | |
| NCT01518595 | Bosentan for Treatment of Hepatopulmonary Syndrome in Patients With Liver Cirrhosis | Phase 2 | 6 | Hepatopulmonary Syndrome, Liver Cirrhosis | BOSENTAN | Open Targets' reading of its record | ClinicalTrials.gov |
Comparisons in its trials3
Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.
| Comparison | Group 1, with the outcome | Group 2, with the outcome | Participants | Trial | Source |
|---|---|---|---|---|---|
| Sorafenib vs Placebo: deaths from any cause | 1 of 16 | 0 of 12 | 28 | NCT02021929 | Trial comparisons |
| Sorafenib vs Placebo: serious adverse events | 7 of 16 | 5 of 12 | 28 | NCT02021929 | Trial comparisons |
| Sorafenib vs Placebo: Number of Participants With Improvement in Intrapulmonary Shunting From Baseline to 12 Weeks. | 3 of 12 | 6 of 9 | 21 | NCT02021929 | Trial comparisons |
Papers from its trials2
The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.
Data dates
The date of each source this release read.
Sources 6
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- NLM's MeSHNLM's terms
- Open TargetsCC0 1.0
- PubMedNLM's terms
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- NLM's MeSHNLM's
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this disease from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/diseases/v1/MONDO_0019312
GET https://conductscience.org/api/diseases/v1/MONDO_0019312/targets?page=2