HOME PRODUCTS COMPANY CONTACT FAQ

Research Dictionary Pharma

Sign Up FREE or Login

Hermansky Pudlak syndrome 2

Also Known As:

Hermansky-Pudlak syndrome 2; Platelet defects and oculocutaneous albinism

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Albinism: 486
    - Oculocutaneous Albinism: 361
      - Hermanski-Pudlak Syndrome: 241
        Hermansky Pudlak syndrome 2: 2
Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Pigmentation Disorders: 149
    - Hypopigmentation: 836
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Hermanski-Pudlak Syndrome: 241
        Hermansky Pudlak syndrome 2: 2
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Oculocutaneous Albinism: 361
        Hermanski-Pudlak Syndrome: 241
        Hermansky Pudlak syndrome 2: 2
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
        Hermansky Pudlak syndrome 2: 2

Related Diseases

1.	Inborn Genetic Diseases (Disease, Hereditary)
2.	Neutropenia
3.	Hemorrhage
4.	Disease Susceptibility (Diathesis)

Experts

1.	Bierings, Ruben: 1 article (10/2019)
2.	Hofman, Menno: 1 article (10/2019)
3.	Karampini, Ellie: 1 article (10/2019)
4.	Kuijpers, Taco W: 1 article (10/2019)
5.	Schillemans, Maaike: 1 article (10/2019)
6.	Voorberg, Jan: 1 article (10/2019)
7.	de Boer, Martin: 1 article (10/2019)
8.	van Alphen, Floris: 1 article (10/2019)
9.	van den Biggelaar, Maartje: 1 article (10/2019)
10.	Bharadwaj, Vandana: 1 article (04/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hermansky Pudlak syndrome 2:

1.

Adaptor Protein Complex 3IBA

04/04/2013 - "Hermansky-Pudlak syndrome 2 (HPS2; OMIM #608233) is a rare, autosomal recessive disorder caused by loss-of-function genetic variations affecting AP3B1, which encodes the β3A subunit of the adaptor-related protein complex 3 (AP3). "
10/01/2019 - "Mutations in the AP3B1 gene, which encodes the adaptor protein complex 3 β1 subunit, result in Hermansky-Pudlak syndrome 2, a rare genetic disorder that leads to neutropenia and a mild bleeding diathesis. "