Hermansky-Pudlak syndrome

Introduction: Hermansky-Pudlak syndrome

Description of Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (medical condition): A rare disorder characterized by various degrees of...more »

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Hermansky-Pudlak Syndrome:
  »Introduction: Hermansky-Pudlak Syndrome
  »Symptoms of Hermansky-Pudlak Syndrome

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: Related Topics

These medical condition or symptom topics may be relevant to medical information for Hermansky-Pudlak syndrome:

• Hermansky
• Hermansky syndrome
• Pudlak
• MIM
• Form
• Oculocutaneous
• Oculocutaneous syndrome
• Albinism (23 causes)

Hermansky-Pudlak syndrome: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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 as a Disease

Hermansky-Pudlak syndrome (medical condition): See Hermansky-Pudlak Syndrome (disease information).
  »Introduction: Hermansky-Pudlak Syndrome
  »Symptoms of Hermansky-Pudlak Syndrome

Hermansky-Pudlak syndrome: Related Diseases

Hermansky-Pudlak syndrome: Hermansky-Pudlak syndrome is listed as a type of (or associated with) the following medical conditions in our database:

• Skin conditions
• Bleeding and coagulation conditions
• Metabolic conditions
• Eye and vision conditions
• Hair conditions

More information on medical condition: Hermansky-Pudlak Syndrome:

• Information about Hermansky-Pudlak Syndrome
• Basic Summary for Hermansky-Pudlak Syndrome
• Symptoms of Hermansky-Pudlak Syndrome
• Complications of Hermansky-Pudlak Syndrome

Hermansky-Pudlak syndrome: Related Disease Topics

These medical disease topics may be related to Hermansky-Pudlak syndrome:

• autosomal recessive disorder
• oculocutaneous albinism
• platelet storage pool defect
• pulmonary fibrosis
• Hermansky-Pudlak syndrome

Terms associated with Hermansky-Pudlak syndrome:

Terms Similar to Hermansky-Pudlak syndrome:

• 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 - NIH

The following terms can be used for Hermansky-Pudlak syndrome

• albinism
• platelet disorder

Source: CRISP

External links related to: Hermansky-Pudlak syndrome

• Hermansky-Pudlak syndrome (www.whonamedit.com)
• OMIM - HERMANSKY-PUDLAK SYNDROME; HPS
• eMedicine - Hermansky-Pudlak Syndrome : Article by Natalio J Izquierdo, MD
• GeneReviews: Hermansky-Pudlak Syndrome
• eMedicine - Hermansky-Pudlak Syndrome : Article by Noah S Scheinfeld, MD, JD, FAAD

Source: Diseases Database

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