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What is Hermansky-Pudlak Syndrome?

What is Hermansky-Pudlak Syndrome?

  • Hermansky-Pudlak Syndrome: A rare disorder characterized by various degrees of albinism, bleeding due to a platelet defect and accumulation of a waxy substance in cells (lysosomal ceroid storage).
  • Hermansky-Pudlak Syndrome: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
    Source - Diseases Database

Hermansky-Pudlak Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Hermansky-Pudlak Syndrome, or a subtype of Hermansky-Pudlak Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Hermansky-Pudlak Syndrome: Introduction

Types of Hermansky-Pudlak Syndrome:

Broader types of Hermansky-Pudlak Syndrome:

Who gets Hermansky-Pudlak Syndrome?

Racial predominance for Hermansky-Pudlak Syndrome: Puerto Ricans

How serious is Hermansky-Pudlak Syndrome?

Prognosis of Hermansky-Pudlak Syndrome: 70% of patients die due to complications but mild cases can be almost asymptomatic
Complications of Hermansky-Pudlak Syndrome: see complications of Hermansky-Pudlak Syndrome

What causes Hermansky-Pudlak Syndrome?

Causes of Hermansky-Pudlak Syndrome: see causes of Hermansky-Pudlak Syndrome

What are the symptoms of Hermansky-Pudlak Syndrome?

Symptoms of Hermansky-Pudlak Syndrome: see symptoms of Hermansky-Pudlak Syndrome

Complications of Hermansky-Pudlak Syndrome: see complications of Hermansky-Pudlak Syndrome

Onset of Hermansky-Pudlak Syndrome: childhood

Can anyone else get Hermansky-Pudlak Syndrome?

Inheritance: see inheritance of Hermansky-Pudlak Syndrome

Hermansky-Pudlak Syndrome: Testing

Diagnostic testing: see tests for Hermansky-Pudlak Syndrome.

Misdiagnosis: see misdiagnosis and Hermansky-Pudlak Syndrome.

How is it treated?

Treatments for Hermansky-Pudlak Syndrome: see treatments for Hermansky-Pudlak Syndrome
Research for Hermansky-Pudlak Syndrome: see research for Hermansky-Pudlak Syndrome

Name and Aliases of Hermansky-Pudlak Syndrome

Main name of condition: Hermansky-Pudlak Syndrome

Other names or spellings for Hermansky-Pudlak Syndrome:

Hermansky syndrome, Albinism oculocutaneous, Hermansky-Pudlak type, albinism [hemorrhagic diathesis], HPS, Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells, Delta storage pool disease

Hermanski Pudlak albinism, Platelet delta storage pool disease Source - Diseases Database

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells, Delta storage pool disease, HPS (Hermansky-Pudlak syndrome)
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Hermansky-Pudlak Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Hermansky-Pudlak Syndrome:

 

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