Hermanski-Pudlak Syndrome

Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.

Also Known As:

Hermansky-Pudlak Syndrome; Hermanski Pudlak Syndrome; Hermansky Pudlak Syndrome

Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Albinism: 486
    - Oculocutaneous Albinism: 361
      - Hermanski-Pudlak Syndrome: 241
Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Hemorrhagic Disorders: 702
    - Platelet Storage Pool Deficiency: 137
      - Hermanski-Pudlak Syndrome: 241
  - Blood Coagulation Disorders: 167
    - Platelet Storage Pool Deficiency: 137
      - Hermanski-Pudlak Syndrome: 241
    - Inherited Blood Coagulation Disorders: 74
      - Hermanski-Pudlak Syndrome: 241
  - Blood Platelet Disorders: 126
    - Platelet Storage Pool Deficiency: 137
      - Hermanski-Pudlak Syndrome: 241
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Hermanski-Pudlak Syndrome: 241
  - Inherited Blood Coagulation Disorders: 74
    - Hermanski-Pudlak Syndrome: 241
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Oculocutaneous Albinism: 361
        Hermanski-Pudlak Syndrome: 241
  - Hereditary Eye Diseases: 18
    - Albinism: 486
      - Oculocutaneous Albinism: 361
        Hermanski-Pudlak Syndrome: 241
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Pigmentation Disorders: 149
    - Hypopigmentation: 836
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Hermanski-Pudlak Syndrome: 241
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Oculocutaneous Albinism: 361
        Hermanski-Pudlak Syndrome: 241
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Hermanski-Pudlak Syndrome: 241

I A Rodriguez-Fernandez Selected Research

I A Rodriguez-Fernandez Research Topics

Disease

Drug/Important Bio-Agent (IBA)