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Results 1 - 10 of 12 for "Hermansky-Pudlak" syndrome
  1. Hermansky-Pudlak syndrome 
    Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) ...
    https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome - Genetics
  2. HPS1 gene 
    ... the HPS1 gene have been found to cause Hermansky-Pudlak syndrome type 1. Individuals with this form of the ... pulmonary fibrosis. The HPS1 gene mutations that cause Hermansky-Pudlak syndrome type 1 impair the normal function of BLOC- ...
    https://medlineplus.gov/genetics/gene/hps1 - Genetics
  3. HPS3 gene 
    ... the HPS3 gene have been found to cause Hermansky-Pudlak syndrome type 3, which is a mild form of ... bleeding problems. The HPS3 gene mutations that cause Hermansky-Pudlak syndrome type 3 impair the normal function of BLOC- ...
    https://medlineplus.gov/genetics/gene/hps3 - Genetics
  4. Platelet Disorders (National Library of Medicine)  
    Platelets, also known as thrombocytes, are blood cells. They form in your bone marrow, a sponge-like tissue in your bones. Platelets play a major role in blood ...
    https://medlineplus.gov/plateletdisorders.html - Health Topics
  5. Skin Pigmentation Disorders (National Library of Medicine)  
    Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the ...
    https://medlineplus.gov/skinpigmentationdisorders.html - Health Topics
  6. Chediak-Higashi syndrome 
    ... CHS PubMed Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation ...
    https://medlineplus.gov/genetics/condition/chediak-higashi-syndrome - Genetics
  7. LYST gene 
    ... Gene ClinVar Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation ...
    https://medlineplus.gov/genetics/gene/lyst - Genetics
  8. Patient support and advocacy groups 
    ... Cell Cancer Family Alliance Hereditary Spherocytosis Support Group Hermansky-Pudlak Syndrome Network Hidradenitis Supporativa Foundation Histiocytosis Association Hormone Health ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  9. Pulmonary Fibrosis (National Library of Medicine)  
    Pulmonary fibrosis is a condition in which the tissue deep in your lungs becomes scarred over time. This tissue gets thick and stiff. That makes it hard for you ...
    https://medlineplus.gov/pulmonaryfibrosis.html - Health Topics
  10. Albinism 
    ... coloring in the back of the eye (retina). Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by ...
    https://medlineplus.gov/ency/article/001479.htm - Medical Encyclopedia
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