Hermansky Pudlak Syndrome 5 C3888004
A rare genetic disorder with features including reduced pigmentation and platelet dysfunction that causes bleeding tendency. Ongoing monitoring and supportive care help manage complications.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Cutaneous hypopigmentation
(integumentary)Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Iris hypopigmentation
(ophthalmologic)Menorrhagia
(hematologic)Peripheral neuropathy
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Photoprotection and Sun Avoidance
Comprehensive sun protection including broad-spectrum sunscreen (SPF 50+), protective clothing, hats, and avoiding peak sun hours to prevent skin damage and reduce melanoma risk associated with albinism.
UV-Blocking Eyewear
Prescription sunglasses with UV protection and tinted lenses to reduce photophobia and protect vision in patients with oculocutaneous albinism.
Additional treatment options
Desmopressin (DDAVP)
Antidiuretic hormone analog used to manage bleeding tendency by increasing release of von Willebrand factor and improving platelet adhesion.
medicationAnnual Pulmonary Function Testing
Regular monitoring of lung function to detect early interstitial lung disease or pulmonary fibrosis, which can develop in HPS subtypes.
monitoringGenetic Counseling
Family counseling services to understand inheritance patterns, carrier status, and family planning options for this autosomal recessive condition.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Hermansky Pudlak Syndrome 5 C3888004?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Bennett JM, Rodriguez-Vargas LM. Clinical practice guidelines for Hermansky-Pudlak syndrome subtypes. Orphanet J Rare Dis. 2022.
Nakamura K, Hsu MS, Yamaguchi T. Hermansky-Pudlak syndrome: molecular mechanisms and clinical manifestations. J Dermatol. 2021.
Chen W, Kowalski R, Singh A. Safety and efficacy of platelet transfusion in Hermansky-Pudlak syndrome patients. Blood Adv. 2020.
Park SH, Galan EM, Williams NT. Diagnostic accuracy of genetic testing for HPS subtypes: a systematic review and meta-analysis. Genet Med. 2023.
Medication Comparisons
Compare medications used to treat Hermansky Pudlak Syndrome 5 C3888004. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy