A Síndrome de Hermansky-Pudlak (SHP) é uma doença que afeta vários sistemas do corpo, caracterizada por albinismo oculocutâneo, tendência a sangramentos e, em alguns casos, baixa de neutrófilos (um tipo de glóbulo branco), fibrose pulmonar ou uma inflamação no intestino (colite granulomatosa). A SHP engloba oito subtipos conhecidos (SHP-1 a SHP-8), a maioria dos quais apresenta as mesmas características clínicas, mas com diferentes níveis de gravidade.
Introdução
O que você precisa saber de cara
A Síndrome de Hermansky-Pudlak (SHP) é uma doença que afeta vários sistemas do corpo, caracterizada por albinismo oculocutâneo, tendência a sangramentos e, em alguns casos, baixa de neutrófilos (um tipo de glóbulo branco), fibrose pulmonar ou uma inflamação no intestino (colite granulomatosa). A SHP engloba oito subtipos conhecidos (SHP-1 a SHP-8), a maioria dos quais apresenta as mesmas características clínicas, mas com diferentes níveis de gravidade.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 56 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 150 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
11 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesic
Cytoplasm
Hermansky-Pudlak syndrome 8
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert w
Cytoplasmic vesicle, clathrin-coated vesicle membraneGolgi apparatus
Hermansky-Pudlak syndrome 2
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections.
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes (PubMed:32565547). In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in i
Hermansky-Pudlak syndrome 11
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. Involved in process of CD8+ T-cell and NK cell degranulation (PubMed:26744459). In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery int
CytoplasmGolgi apparatus membrane
Hermansky-Pudlak syndrome 10
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS10 patients manifest albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing.
May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules (PubMed:17041891). Acts as a cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes,
Microsome membraneCytoplasm, cytosolEarly endosome membraneLysosome membrane
Hermansky-Pudlak syndrome 6
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins
Cytoplasm, cytosol
Hermansky-Pudlak syndrome 5
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991)
Hermansky-Pudlak syndrome 1
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular ve
CytoplasmMembrane
Hermansky-Pudlak syndrome 9
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
Involved in early stages of melanosome biogenesis and maturation
CytoplasmCytoplasm, cytosol
Hermansky-Pudlak syndrome 3
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991)
Hermansky-Pudlak syndrome 4
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex
CytoplasmCytoplasmic vesicle membraneEndosome membraneMelanosome membranePostsynaptic densityEndoplasmic reticulumNucleusCytoplasmic vesicle, secretory vesicle, synaptic vesicle membranePostsynaptic cell membrane
Hermansky-Pudlak syndrome 7
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
Variantes genéticas (ClinVar)
920 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2,408 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
3 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de Hermansky-Pudlak
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
11 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
Thrombin activity confinement and dense granule release drive the dynamics of arterial thrombus.
The mechanisms driving spatial heterogeneity of arterial thrombus and its three-stage dynamics are poorly understood. To investigate the potential principles regulating the size of the thrombus core and shell we developed a 3D continuum computational model that describes thrombus heterogeneity, thrombin-induced platelet dense granule secretion and clot propagation through thrombin and ADP-induced platelet activation. The continuum model predicted that spatial confinement of the thrombus core was a result of thrombin transport and a threshold-like dependence of platelet activation on thrombin concentration. This new model recapitulated three-stage dynamics observed in vivo and explained it with a burst-like ADP concentration dynamics due to the confinement of thrombus core propagation and rapid dense granule pool depletion within the core. The maximal shell size in silico was regulated by the transport of ADP and the kinetics of thrombin-dependent dense granules secretion. Simulations also predicted that partial propagation of thrombin inside the thrombus shell caused irreversible platelet activation by the low-dose thrombin and defined the residual shell size. Moreover, our results provided an explanation for the reduced size of a thrombus core observed in the mouse models of Hermansky-Pudlak syndrome. The continuum model was then applied to describe a FeCl3-induced thrombosis in macrocirculation, and described the thrombin-flux-depending switch between occlusive and non-occlusive thrombosis scenarios in mouse carotid artery. Finally, our simulations reinforced the hypothesis suggesting the importance of the large ADP-dependent thrombus shell for sealing the breach in case of a penetrating injury. Taken together, our results suggest a novel mechanism that may regulate arterial thrombus dynamics and offer several insights and сlarification to the core-and-shell model of arterial thrombus organization, as well as a possible role of the large thrombus shell in hemostasis.
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.
Oculocutaneous albinism (OCA) are genetically and clinically heterogeneous recessive disorders with at least 23 associated genes. Isolated OCA is characterized by hypopigmentation in the skin, hair, and eyes combined with ocular abnormalities. Hermansky Pudlak syndrome (HPS) and Chediak-Higaski syndrome are syndromic forms of OCA, distinguished by immunological and hematological symptoms in addition to hypopigmentation and ocular anomalies. Targeted clinical care is crucial for the patients and molecular genetic diagnosis is important for classification of patients. Current diagnostic yield is approximately 70%, and a high proportion of patients are heterozygous for pathogenic variants in OCA genes, suggesting the presence of disease-causing non-coding variants. We describe here next generation sequencing (NGS) analysis, including copy number variant (CNV) analysis, of 28 consanguineous families, comprising a total of 136 individuals presenting with OCA. We provide a molecular genetic diagnosis in all 28 families. Noteworthy, five families (18%) had pathogenic variants in a gene associated with HPS, showing the importance of an in-depth molecular genetic investigation, which should be offered to persons with albinism. Furthermore, we report the first deep intron variant in TYR causing OCA and show by minigene analysis that the variant causes inclusion of a pseudoexon.
Choline and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
Identifying molecular biomarkers of pulmonary fibrosis (PF) would improve monitoring the disease progression and response to treatment. Hermansky-Pudlak syndrome (HPS)PF is an inherited type of progressive PF with accelerated onset of PF in patients with HPS type 1 (HPS-1). HPSPF could serve as a model to study biomarkers of progressive PF, given that all individuals with HPS-1 eventually develop HPSPF. We used a multiomics strategy to discover progressive blood biomarkers that can recognize factors contributing to the fibrotic cascade in the lungs of individuals with HPS. Metabolomic and cytokine/chemokine profiling were performed on serum samples from patients with HPS-1, HPS-1 with PF (HPSPF), HPS-3, HPS-5, or idiopathic PF and healthy volunteers. Metabolomics, cytokine/chemokine, pulmonary function, and age data from subjects with HPS-1 and HPSPF were integrated into a multiomics network. The analysis highlighted alterations in the transsulfuration pathway, arginine metabolism, and redox balance with the progression of PF in HPS-1. Among those, CCL22 and choline were significantly elevated in HPSPF compared with HPS-1 in two independent cohorts together with age and were associated with decline of pulmonary function. In receiver operating characteristic curve analysis, both CCL22 and choline demonstrated high accuracy in predicting PF in subjects with HPS-1 and therefore could serve as prognostic blood biomarkers of HPSPF. We noted similarity in molecular signatures of CCL22 in progressive idiopathic PF and HPSPF. We found that inducible nitric oxide synthase is an upstream regulator of releasing profibrotic mediators (CCL22, CCL24, IL-18, IL-1α, IL-1β), suggesting the therapeutic potential of inducible nitric oxide synthase inhibition in progressive HPSPF.
Human respiratory airway progenitors derived from pluripotent cells generate alveolar epithelial cells and model pulmonary fibrosis.
Human lungs contain unique cell populations in distal respiratory airways or terminal and respiratory bronchioles (RA/TRBs) that accumulate in persons with lung injury and idiopathic pulmonary fibrosis (IPF), a lethal lung disease. As these populations are absent in rodents, deeper understanding requires a human in vitro model. Here we convert human pluripotent stem cells (hPS cells) into expandable spheres, called induced respiratory airway progenitors (iRAPs), consisting of ~98% RA/TRB-associated cell types. One hPS cell can give rise to 1010 iRAP cells. We differentiate iRAPs through a stage consistent with transitional type 2 alveolar epithelial (AT2) cells into a population corresponding to mature AT1 cells with 95% purity. iRAPs with deletion of Heřmanský-Pudlák Syndrome 1 (HPS1), which causes pulmonary fibrosis in humans, replicate the aberrant differentiation and recruitment of profibrotic fibroblasts observed in IPF, indicating that intrinsic dysfunction of RA/TRB-associated alveolar progenitors contributes to HPS1-related IPF. iRAPs may provide a system suitable for IPF drug discovery and validation.
Platelet secretion defects and increased CD63 expression in Hermansky-Pudlak syndrome: a case report - Erratum.
Publicações recentes
A dileucine motif in TMEM163 is essential for its binding with both AP-3 and BLOC-1 complex.
🥇 Revisão sistemáticaCase report: Double-lung transplantation for Hermansky-Pudlak syndrome-associated pulmonary fibrosis and early-stage lung cancer.
Hermansky-Pudlak Syndrome Type 1 with pulmonary fibrosis: A case report and re-view of management.
Hermansky-Pudlak Syndrome Type 3 Complicated by Schizophrenia and Crohn's-Like Colitis.
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
📚 EuropePMC510 artigos no totalmostrando 195
Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
Hematology reportsThrombin activity confinement and dense granule release drive the dynamics of arterial thrombus.
PLoS computational biologyOculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.
European journal of human genetics : EJHGHermansky-Pudlak Syndrome.
Eye (London, England)Characteristics of monogenic inflammatory bowel disease in very early-onset cases: a Japanese multicenter registry study.
Intestinal researchPlatelet secretion defects and increased CD63 expression in Hermansky-Pudlak syndrome: a case report - Erratum.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisAlbinism: from genetics to cell biology and physiopathology.
Presse medicale (Paris, France : 1983)Molecular Pathogenesis of Inherited Platelet Dysfunction.
BiomoleculesUpdated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.
Pigment cell & melanoma researchA novel homozygous HPS4 mutation in Hermansky-Pudlak syndrome: case report and literature review.
Therapeutic advances in respiratory diseaseA novel HPS3 pathogenic nonsense variant associated with Hermansky-Pudlak syndrome type 3 and a platelet dysfunction.
Molecular biology reportsHermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation.
Oxford medical case reportsSpontaneous mutant in threespine stickleback connects endosome trafficking disorders and inflammatory bowel diseases via changes in the gut microbiome.
bioRxiv : the preprint server for biologyClinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review.
Therapeutic advances in respiratory diseaseRapid Diagnosis and Subtyping of Hermansky-Pudlak Syndrome With Flow Cytometry Analysis.
Pigment cell & melanoma researchBLOC-1 and BORC: Complex regulators of endolysosomal dynamics.
Cell chemical biologyImpaired biogenesis of renin granules in juxtaglomerular cells of Vps33a (D251E) mutant mice.
Journal of cell scienceRegulation of intracellular proliferation of Salmonella typhimurium by CD63.
Genes & genomicsBLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
medRxiv : the preprint server for health sciencesHermansky-Pudlak Syndrome Pulmonary Fibrosis: Monogenic Disorder, Multi-Omics Discovery.
American journal of respiratory cell and molecular biologyCholine and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
American journal of respiratory cell and molecular biologyRefractory Colitis in Hermansky-Pudlak Syndrome: A Surgical Case Report.
CureusGriscelli Syndrome: A Case Report from Pakistan, A Review of the Literature, and an Approach to Hematological Disorders Associated With Albinism.
CureusReprogramming of endolysosomes for melanogenesis in BLOC-1-deficient melanocytes.
Current biology : CBKidney melanosis associated with a novel HSP-1 Hermansky-Pudlak oculocutaneous albinism mutation: a case report.
BMC nephrologyMultidisciplinary Approach to Familial Pulmonary Fibrosis.
Radiographics : a review publication of the Radiological Society of North America, IncSkin lamellar bodies: a unique set of lysosome-related organelles.
Frontiers in cell and developmental biologyStrabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters.
NeurogeneticsDifferences in Visual Acuity Among Hermansky-Pudlak Syndrome Subtypes.
CureusEvaluating the Use of iPSC-Derived Models in Understanding the Pathogenesis of Childhood Interstitial Lung Disease.
Pediatric pulmonologyAction Plan for Advancing Biomedical Research, Therapeutic Development, and Patient Care.
Clinical therapeuticsHermansky-Pudlak Syndrome: From Molecular Pathogenesis to Targeted Therapies.
IUBMB lifeA novel 5bp deletion in HPS4 gene associates with Hermansky-Pudlak Syndrome.
Ophthalmic geneticsAge-related neutrophil activation in Hermansky-Pudlak Syndrome Type-1.
Orphanet journal of rare diseasesPlatelet secretion defects and increased CD63 expression in Hermansky-Pudlak syndrome: a case report.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisA 29-Year-Old Man With Type 2 Hermansky-Pudlak Syndrome and Wolff-Parkinson-White Syndrome: The Hypothesis of a Potential Link Between These Two Conditions.
Case reports in medicineBiochemical and structural characterization of Biogenesis of Lysosome-related Organelles Complex-1 (BLOC-1).
Biochemical and biophysical research communicationsHermansky-Pudlak syndrome (HPS): a rare genetic interstitial lung disease.
BMJ case reportsCase report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3.
Frontiers in geneticsHermansky-Pudlak Syndrome Complicated by Crohn's Disease and Hidradenitis Suppurativa: A Case of Multisystem Immune Dysregulation.
ACG case reports journalCryo-EM structure of the BLOC-3 complex provides insights into the pathogenesis of Hermansky-Pudlak syndrome.
Nature communicationsHermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia.
The American journal of case reportsHuman respiratory airway progenitors derived from pluripotent cells generate alveolar epithelial cells and model pulmonary fibrosis.
Nature biotechnologySynonymous but Significant: New Findings of Pathological Variants in Hermansky-Pudlak Syndrome.
Pigment cell & melanoma researchEmergence of inflammatory fibroblasts with aging in Hermansky-Pudlak syndrome associated pulmonary fibrosis.
Communications biologySequence Context-Agnostic TadA-Derived Cytosine Base Editors for Genome-Wide Editing in Zebrafish.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Hermansky-Pudlak Syndrome in the United States.
ChestAnandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
American journal of respiratory and critical care medicineExploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.
Immunologic researchRole of Morphology in the Diagnosis of an Unsuspected Case of Chediak-Higashi Syndrome: A Case Report.
CureusInsights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model.
FEBS lettersDysregulated alveolar epithelial cell progenitor function and identity in Hermansky-Pudlak syndrome.
JCI insightApplication of Forced Oscillation Technique in Assessing Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
Advances in respiratory medicineRare genetic interstitial lung diseases: a pictorial essay.
European respiratory review : an official journal of the European Respiratory SocietyGranulomatous Colitis Due to Hermansky-Pudlak Syndrome.
ACG case reports journalPathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis.
International journal of molecular sciencesMasks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.
International journal of molecular sciencesRare interstitial lung diseases: a narrative review.
Journal of thoracic diseaseHistological Findings of ETosis in Hermansky-Pudlak Syndrome with Pulmonary Fibrosis: A Follow-Up Case Report.
Journal of chest surgeryType 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndrome.
JCI insightHermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis.
Respiratory medicine case reportsImpairment of Renal Function in Hermansky-Pudlak Syndrome.
American journal of nephrologyAcute Angle Closure Glaucoma Attack in a Patient With Hermansky-Pudlak Syndrome: A Case Report.
CureusA novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9).
BMC genomicsHermansky-Pudlak Syndrome Type 2: A Case Report on an Ultra-Rare Disorder.
CureusHermansky-Pudlak Syndrome: A Rare Congenital Disorder With Interstitial Lung Disease.
CureusMutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families.
BMC ophthalmologyBiogenesis of lysosome-related organelles complex-2 is an evolutionarily ancient proto-coatomer complex.
Current biology : CBAfter an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.
Molecular genetics & genomic medicineAn unprecedented intersection between Hermansky-Pudlak syndrome and rheumatic mitral stenosis.
Kardiologia polskaGenetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population.
Clinica chimica acta; international journal of clinical chemistryHPS6 Deficiency Leads to Reduced Vacuolar-Type H+-ATPase and Impaired Biogenesis of Lamellar Bodies in Alveolar Type II Cells.
American journal of respiratory cell and molecular biologyAnandamide is an Early Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
medRxiv : the preprint server for health sciencesHermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone.
Internal medicine (Tokyo, Japan)Depigmented Fundus and Fovea Plana in Hermansky-Pudlak Syndrome.
Ophthalmology. RetinaISTH bleeding assessment tool and platelet function analyzer in children with mild inherited platelet function disorders.
European journal of haematologyHuman platelets contain a pool of free zinc in dense granules.
Research and practice in thrombosis and haemostasisEarly ophthalmic findings in Hermansky-Pudlak syndrome type 9.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieReduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils.
Life science allianceLong-term nintedanib treatment for progressive pulmonary fibrosis associated with Hermansky-Pudlak syndrome type 1 followed by lung transplantation.
Respiratory investigationUnraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.
Ophthalmic geneticsNovel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.
Ophthalmic researchTargeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders.
Journal of thrombosis and haemostasis : JTHHermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease.
Cureus[Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsIn vitro and in vivo pharmacokinetic characterization, chiral conversion and PBPK scaling towards human PK simulation of S-MRI-1867, a drug candidate for Hermansky-Pudlak syndrome pulmonary fibrosis.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieGeneration of translucent Xenopus tropicalis through triple knockout of pigmentation genes.
Development, growth & differentiationPrimary Hemostasis Disorders as a Cause of Heavy Menstrual Bleeding in Women of Reproductive Age.
Journal of clinical medicineHigh-throughput microfluidic blood testing to phenotype genetically linked platelet disorders: an aid to diagnosis.
Blood advancesHermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression.
European journal of medical geneticsA case of Hermansky-Pudlak with dyspnea.
Oxford medical case reportsReport of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.
GenesDiagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.
GenesSuccessful treatment of pulmonary hypertension with macitentan in a patient with Hermansky-Pudlak syndrome.
Kardiologia polska[State-of-the-art in respiratory disease research using respiratory organoids].
Nihon yakurigaku zasshi. Folia pharmacologica JaponicaThe efficacy and safety of pirfenidone in the treatment of HPS-related pulmonary fibrosis and Idiopathic pulmonary fibrosis: a systematic review and meta-analysis.
European review for medical and pharmacological sciencesA homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Human geneticsOverlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.
CellsInvestigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia.
Ophthalmology scienceHermansky-Pudlak syndrome presenting with paranoid delusion.
CNS spectrumsOcular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.
Ophthalmic geneticsHermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism.
Mucosal immunology[Pulmonary phenotypes of inborn errors of metabolism].
Revue des maladies respiratoiresHermansky-Pudlak Syndrome: Spectrum in Oman.
Journal of pediatric hematology/oncologyCase series on Silvery Hair Syndromes: Single Center Experience.
Indian journal of dermatologyHermansky-Pudlak syndrome: Gene therapy for pulmonary fibrosis.
Molecular genetics and metabolismOculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.
Frontiers in geneticsAmelanotic melanoma in a patient with Hermansky-Pudlak syndrome.
JAAD case reportsEvolutionarily conserved role of hps1 in melanin production and blood coagulation in medaka fish.
G3 (Bethesda, Md.)Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.
Frontiers in pediatricsDermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3.
Orphanet journal of rare diseasesClinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome.
GenesAP-3 complex subunit delta gene, ap3d1, regulates melanogenesis and melanophore survival via autophagy in zebrafish (Danio rerio).
Pigment cell & melanoma researchClinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
GenesDysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility.
Respiratory researchThromboxane-Prostanoid Receptor Signaling Drives Persistent Fibroblast Activation in Pulmonary Fibrosis.
American journal of respiratory and critical care medicinePulmonary and Intestinal Involvement in a Patient with Myeloperoxidase-specific Antineutrophil Cytoplasmic Antibody-positive Hermansky-Pudlak Syndrome.
Internal medicine (Tokyo, Japan)Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.
Respiratory researchZebrafish Syndromic Albinism Models as Tools for Understanding and Treating Pigment Cell Disease in Humans.
CancersLung Transplantation for Pulmonary Fibrosis Associated With Hermansky-Pudlak Syndrome. A Single-center Experience.
Transplantation directHPS6 Regulates the Biogenesis of Weibel-Palade Body in Endothelial Cells Through Trafficking v-ATPase to Its Limiting Membrane.
Frontiers in cell and developmental biologyThe Microscopy-Based Assay to Study and Analyze the Recycling Endosomes using SNARE Trafficking.
Journal of visualized experiments : JoVENovel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyGenotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
OphthalmologyClinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series.
Liver international : official journal of the International Association for the Study of the LiverNew insights into the pathogenesis of Hermansky-Pudlak syndrome.
Pigment cell & melanoma researchHermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7).
Frontiers in pharmacologyTwo Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.
Life (Basel, Switzerland)A Role of Phosphatidylserine in the Function of Recycling Endosomes.
Frontiers in cell and developmental biologyEyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.
Journal of the European Academy of Dermatology and Venereology : JEADVGenetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.
Acta chimica SlovenicaRecurrent perianal abscess in a patient with Hermansky-Pudlak syndrome-associated granulomatous colitis: a case report.
Annals of coloproctologyModeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs.
Respiratory researchA Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.
CellsWhole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome.
BioMed research internationalVtc5 Is Localized to the Vacuole Membrane by the Conserved AP-3 Complex to Regulate Polyphosphate Synthesis in Budding Yeast.
mBioA novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.
Cold Spring Harbor molecular case studiesEffects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs.
GenesGWAS Identifies a Region Containing the SALL1 Gene in Variation of Pigmentation Intensity Within the Chestnut Coat Color of Horses.
The Journal of heredityCB1 R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky-Pudlak syndrome.
Clinical and translational medicineClinical phenocopies of albinism.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusAutomated Digital Quantification of Pulmonary Fibrosis in Human Histopathology Specimens.
Frontiers in medicineGeneration and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1.
Stem cell researchA novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption.
Pigment cell & melanoma researchAP-3-dependent targeting of flippase ATP8A1 to lamellar bodies suppresses activation of YAP in alveolar epithelial type 2 cells.
Proceedings of the National Academy of Sciences of the United States of AmericaGenetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.
Pigment cell & melanoma researchAP-3 adaptor complex-mediated vesicle trafficking.
Biophysics reportsHermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.
European journal of medical geneticsHermansky-Pudlak Syndrome: A Rare Cause of Post-polypectomy Bleeding.
CureusHermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics.
Frontiers in pharmacologyProspective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
GenesA family history of Hermansky-Pudlak syndrome complicated with pulmonary fibrosis: a case series and review.
Respirology case reportsPrimary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.
Allergologia et immunopathologiaHermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung.
Respiratory researchThe first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population.
The Journal of dermatologyHermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.
European respiratory review : an official journal of the European Respiratory SocietyThe presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsA zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules.
BloodSevere hidradenitis suppurativa in a patient affected by Hermansky-Pudlak Syndrome type 9: possible shared pathogenetic aspects.
Italian journal of dermatology and venereologyInflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study.
Journal of internal medicineMelanogenesis Connection with Innate Immunity and Toll-Like Receptors.
International journal of molecular sciencesInterstitial Pneumonia Secondary to Hermansky-Pudlak Syndrome Type 4 Treated with Different Antifibrotic Agents.
Internal medicine (Tokyo, Japan)Genetically encoded multimode reporter of adaptor complex 3 traffic in budding yeast.
Traffic (Copenhagen, Denmark)HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells.
Frontiers in immunologyPeriodic 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 mechanismsMelanosome transport and regulation in development and disease.
Pharmacology & therapeuticsHermansky-Pudlak syndrome-associated pneumothorax with rapid progression of respiratory failure: a case report.
BMC pulmonary medicineRab GTPases: Key players in melanosome biogenesis, transport, and transfer.
Pigment cell & melanoma researchCurrent landscape of Oculocutaneous Albinism in Japan.
Pigment cell & melanoma researchIdentification of two novel mutations in a Japanese patient with Hermansky-Pudlak syndrome type 5.
The Journal of dermatologyPartial albinism and immunodeficiency in patients with Hermansky-Pudlak Type II: Introducing 2 novel mutations.
Scandinavian journal of immunologyThe spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan.
The World Allergy Organization journalGenetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.
Pigment cell & melanoma researchNovel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.
Pigment cell & melanoma researchIntractable diffuse pulmonary diseases: Manual for diagnosis and treatment.
Respiratory investigationBLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Genetics in medicine : official journal of the American College of Medical GeneticsDonskoy cats as a new model of oculocutaneous albinism with the identification of a splice-site variant in Hermansky-Pudlak Syndrome 5 gene.
Pigment cell & melanoma researchNovel Brown Coat Color (Cocoa) in French Bulldogs Results from a Nonsense Variant in HPS3.
GenesAlbinism with pulmonary fibrosis: Hermansky-Pudlak syndrome.
Polish archives of internal medicineGenetic variants associated with Hermansky-Pudlak syndrome.
PlateletsA new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.
PlateletsRetinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7.
Scientific reportsThe Mutation of the Ap3b1 Gene Causes Uterine Hypoplasia in Pearl Mice.
Reproductive sciences (Thousand Oaks, Calif.)Hermansky-Pudlak syndrome: Mutation update.
Human mutationNovel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3.
PlateletsNovel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2.
The Journal of dermatologyCharacterizing renal involvement in Hermansky-Pudlak Syndrome in a zebrafish model.
Scientific reportsExtracorporeal Membrane Oxygenation Bridge to Lung Transplantation in a Patient with Hermansky-Pudlak Syndrome and Progressive Pulmonary Fibrosis.
Acute and critical carePossible value of antifibrotic drugs in patients with progressive fibrosing non-IPF interstitial lung diseases.
BMC pulmonary medicineSpeckled lentiginous nevus in a patient with Hermansky-Pudlak syndrome type 1.
The Journal of dermatologySubclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky-Pudlak syndrome type 3.
The Journal of dermatologyNovel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.
BMC pulmonary medicineHexa-Longin domain scaffolds for inter-Rab signalling.
Bioinformatics (Oxford, England)Treatment of Hermansky-Pudlak syndrome Associated granulomatous colitis with anti-TNF agents: case series and review of literature.
European journal of gastroenterology & hepatologyA novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.
MedicineAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de Hermansky-Pudlak.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome de Hermansky-Pudlak
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Thrombin activity confinement and dense granule release drive the dynamics of arterial thrombus.
- Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.
- Choline and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
- Human respiratory airway progenitors derived from pluripotent cells generate alveolar epithelial cells and model pulmonary fibrosis.
- Platelet secretion defects and increased CD63 expression in Hermansky-Pudlak syndrome: a case report - Erratum.Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis· 2026· PMID 41476381mais citado
- A dileucine motif in TMEM163 is essential for its binding with both AP-3 and BLOC-1 complex.
- Case report: Double-lung transplantation for Hermansky-Pudlak syndrome-associated pulmonary fibrosis and early-stage lung cancer.
- Hermansky-Pudlak Syndrome Type 1 with pulmonary fibrosis: A case report and re-view of management.
- Hermansky-Pudlak Syndrome Type 3 Complicated by Schizophrenia and Crohn's-Like Colitis.
- BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79430(Orphanet)
- MONDO:0019312(MONDO)
- GARD:6643(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1506216(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
