ArticleHuman genetics2003
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.
Article in Human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
70 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Systematic review of drug effects in humans and models with surfactant-processing disease.European respiratory review : an official journal of the European Respiratory Society · 2018Pooled it
- Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.PloS one · 2018Trial
- Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease.The Journal of clinical investigation · 2015Trial
- Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.Molecular genetics and metabolism · 2011Trial
- Review
- Advances in our understanding of distal progenitors in idiopathic pulmonary fibrosis: implications for novel therapeutics.The European respiratory journal · 2026Review
- Hermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia.The American journal of case reports · 2025Article
- Impairment of Renal Function in Hermansky-Pudlak Syndrome.American journal of nephrology · 2025Article
- Type 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndrome.JCI insight · 2024Article
- Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis.International journal of molecular sciences · 2024Review
- The world of rare interstitial lung diseases.European respiratory review : an official journal of the European Respiratory Society · 2023Review
- Article
- Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective.Diagnostics (Basel, Switzerland) · 2022Review
- Targeting Chitinase 1 and Chitinase 3-Like 1 as Novel Therapeutic Strategy of Pulmonary Fibrosis.Frontiers in pharmacology · 2022Review
- Thromboses and Hemostasis Disorders Associated with COVID-19: The Possible Causal Role of Cross-Reactivity and Immunological Imprinting.Global medical genetics · 2021Article
- A Novel Likely Pathogenic Variant in theCells · 2021Review
- Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.European respiratory review : an official journal of the European Respiratory Society · 2021Article
- Interstitial Pneumonia Secondary to Hermansky-Pudlak Syndrome Type 4 Treated with Different Antifibrotic Agents.Internal medicine (Tokyo, Japan) · 2021Article
- Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics.Frontiers in pharmacology · 2021Review
- Periodic albinism of a widely used albino mutant of Xenopus laevis caused by deletion of two exons in the Hermansky-Pudlak syndrome type 4 gene.Genes to cells : devoted to molecular & cellular mechanisms · 2021Article
10 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder of oculocutaneous albinism and bleeding attributable to storage-pool-deficient platelets. Although at least 14 mouse models of HPS exist, the human disorders that comprise HPS, i.e., HPS-1, HPS-2, HPS-3, and HPS-4, are recognized to result from mutations in four genes, viz., HPS1, ADTB3A, HPS3, and HPS4, respectively. To characterize further the recently identified HPS-4 disease on molecular and clinical grounds, we first identified the genomic organization of HPS4, located on chromosome 22q11.2-q12.2, including its intron/exon boundaries. We found that HPS4 produces at least two alternatively spliced mRNA transcripts that differ at their 5'-ends. Next, we performed an extensive analysis of 22 unassigned HPS patients (i.e., not having HPS-1, HPS-2, or HPS-3 disease). Using single-strand conformation polymorphism, we determined that seven of the 22 patients had HPS-4. In these seven individuals, we identified five different HPS4 mutations, including one frameshift insertion, one missense, and three nonsense mutations. Three alleles in two patients contained the previously reported Q698insAAGCA frameshift. Three HPS4 mutations were newly described. Four alleles in three patients contained R217X, and two siblings were compound heterozygotes for E138X and E222X. Clinically, our HPS-4 patients exhibited iris transillumination, variable hair and skin pigmentation, absent platelet dense bodies, and occasional pulmonary fibrosis and granulomatous colitis, a severe phenotype similar to that of patients with HPS-1.
Indexed as
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.