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Hermansky-Pudlak syndrome 1

Disease Summary
Associated Targets (9)
Tbio

9


Mondo Description Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.
Uniprot Description A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
Disease Ontology Description A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.
Mondo Term and Equivalent IDs
MONDO:0008748:  Hermansky-Pudlak syndrome 1
MESH:C538539: 
NCIT:C150367: 
UMLS:C2931875: