- ... HPS4 , HPS5 , or HPS6 . Differential Diagnosis Albinism. The diagnosis of Hermansky-Pudlak syndrome (HPS) should be considered in anyone with oculocutaneous ...
- ... 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 ...
- ... in clinical research regarding Chediak-Higashi syndrome and Hermansky-Pudlak syndrome . She would be happy to communicate with persons who have questions regarding the diagnosis of these disorders or other considerations. Acknowledgments The ...
- ... type 1b Griscelli syndrome type 2 (OMIM 607624 ) Hermansky-Pudlak syndrome type ... Following Initial Diagnosis To establish the extent of disease and needs ...
- ... 2022] . Table 3. Multisystem Disorders in the Differential Diagnosis of EPG5 -Related Disorder View in own window Gene(s) Differential Disorder MOI Phenotype AP3B1 AP3D1 Hermansky-Pudlak syndrome types 2 ( AP3B1 ) & 10 ( AP3D1 ) AR Primary immunodeficiency ...
- 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.
- ... a specific syndrome associated with OCA (e.g., Hermansky-Pudlak syndrome or Chediak-Higashi ... a molecular diagnosis has been established in the proband, molecular genetic ...
- ... Inherited Immune Disorders to Consider in the Differential Diagnosis of Familial Hemophagocytic ... syndrome 2 AR Defective granule-mediated cytotoxicity Abnl pigment; ...
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