Hermansky-Pudlak syndrome

disorder

SNOMED 9311003CUI C0079504

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Hermanski-Pudlak Syndrome" from the MEDLINE/PubMed database.

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The efficacy and safety of pirfenidone in the treatment of HPS-related pulmonary fibrosis and Idiopathic pulmonary fibrosis: a systematic review and meta-analysis.

[object Object], [object Object], [object Object] et al. · Eur Rev Med Pharmacol Sci · 2022

PMID: 36459024Meta-Analysis

Autoimmune disorders of platelet function: systematic review of cases of acquired Glanzmann thrombasthenia and acquired delta storage pool disease.

[object Object], [object Object], [object Object] et al. · Blood Transfus · 2022

PMID: 34369869Meta-AnalysisFull text (PMC)

The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.

[object Object], [object Object], [object Object] et al. · Int J Gynaecol Obstet · 2021

PMID: 33521972Meta-Analysis

Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.

[object Object], [object Object], [object Object] et al. · Mol Genet Metab · 2011

PMID: 21420888RCTFull text (PMC)

Hermansky-Pudlak Syndrome.

[object Object], [object Object] · Clin Chest Med · 2025

PMID: 41110930Review

Hermansky-Pudlak Syndrome: From Molecular Pathogenesis to Targeted Therapies.

[object Object], [object Object], [object Object] et al. · IUBMB Life · 2025

PMID: 40387003ReviewFull text (PMC)

Evaluating the Use of iPSC-Derived Models in Understanding the Pathogenesis of Childhood Interstitial Lung Disease.

[object Object], [object Object], [object Object] · Pediatr Pulmonol · 2025

PMID: 40432281ReviewFull text (PMC)

Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis.

[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2024

PMID: 39457053ReviewFull text (PMC)

New insights into the pathogenesis of Hermansky-Pudlak syndrome.

[object Object], [object Object], [object Object] et al. · Pigment Cell Melanoma Res · 2022

PMID: 35129281Review

Hermansky-Pudlak Syndrome.

[object Object], [object Object] · Semin Respir Crit Care Med · 2020

PMID: 32279294Review

Search all PubMed articles for Hermansky-Pudlak syndrome

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Bleeding tendency

Very frequent (80-99%)HP:0001892

Hypopigmentation of the skin

Very frequent (80-99%)HP:0001010

Immune deficiency

Very frequent (80-99%)HP:0002721

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Iris hypopigmentation

Very frequent (80-99%)HP:0007730

Neutropoenia

Very frequent (80-99%)HP:0001875

Partial absent skin pigmentation

Very frequent (80-99%)HP:0007443

Abnormal curving of the cornea or lens of the eye

Frequent (30-79%)HP:0000483

Abnormal visual evoked responses

Frequent (30-79%)HP:0000649

Albinism, Ocular

Frequent (30-79%)HP:0001107

Bruising susceptibility

Frequent (30-79%)HP:0000978

Frequent nosebleeds

Frequent (30-79%)HP:0000421

Hypopigmentation of hair

Frequent (30-79%)HP:0005599

Lens opacities

Frequent (30-79%)HP:0000518

Menometrorrhagia

Frequent (30-79%)HP:0400008

Near sighted

Frequent (30-79%)HP:0000545

optic nerve abnormalities

Frequent (30-79%)HP:0000587

Photophobia

Frequent (30-79%)HP:0000613

Pulmonary fibrosis

Frequent (30-79%)HP:0002206

Renal failure

Frequent (30-79%)HP:0000083

Squint

Frequent (30-79%)HP:0000486

Wandering eye

Frequent (30-79%)HP:0000646

Abnormal tooth enamel

Occasional (5-29%)HP:0000682

Basal cell nevus

Occasional (5-29%)HP:0002671

Disease of the heart muscle

Occasional (5-29%)HP:0001638

Epidermal hyperkeratosis

Occasional (5-29%)HP:0000962

Gastrointestinal haemorrhage

Occasional (5-29%)HP:0002239

Impaired vision

Occasional (5-29%)HP:0000505

Increased length of eyelashes

Occasional (5-29%)HP:0000527

Intestinal malabsorption

Occasional (5-29%)HP:0002024

Related Conditions

Dense body defect(parent)

Tyrosinase-positive oculocutaneous albinism(parent)

Quick Facts

SNOMED CT: 9311003
UMLS CUI: C0079504
Fully Specified Name: Hermansky-Pudlak syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.