- ... kidney failure. There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 ...
- ... html:p >There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 ...
- ... describe what qualifies as "white" hair. The differential diagnosis for individuals with albinism who have pigment in the skin and hair (OCA1B) includes OCA2 , OCA3, OCA4 , Hermansky-Pudlak syndromes 1-7, and X-linked (Nettleship-Falls) ocular ...
- Read about skin pigmentation disorders, which affect the color of your skin. It could be too light or too dark, in certain areas or all over the body.
- ... coloring in the back of the eye (retina). Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by a change to a single gene. It can occur with a bleeding disorder, as well as with lung, kidney, and bowel diseases.
- Pulmonary fibrosis (Idiopathic pulmonary fibrosis or IPF) is a condition where the tissue deep in the lungs becomes scarred over time. Find symptoms. ... Pulmonary fibrosis ...
- ... of Medicine Genetics Home Reference Chediak-Higashi syndrome Hermansky-Pudlak Syndrome Network, Inc. One South Road Oyster Bay NY ... Ehl S. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood. 2013; 121 :2943–51. [ PMC ...
- Platelets help wounds heal and prevent bleeding by forming blood clots. Learn about problems from having too few, too many, or abnormal platelets. ... Platelets, also ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome</url><title >Hermansky-Pudlak syndrome</title><other_names >< ...
- ... 1100delC -- 17% c.470T>C p.Ile157Thr 11% Hermansky-Pudlak syndrome AR HPS3 c.1163+1G>A -- 80% 1/ ... JR, Kaiser-Kupfer MI, White JG, Gahl WA. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non- ...
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