Hermansky-Pudlak Syndrome 7 malady
Categories: Genetic diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases, Rare diseases
Aliases & Descriptions for Hermansky-Pudlak Syndrome 7:
Orphanet epidemiological data:52
Prevalence: <1/1000000 (Worldwide)
hermansky-pudlak syndrome 7:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Metabolic diseases, Rare diseases
Anatomical: Eye diseases, Skin diseases, Blood diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism
Rare haematological diseases
UniProtKB/Swiss-Prot:68 Hermansky-Pudlak syndrome 7: 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.
MalaCards based summary: Hermansky-Pudlak Syndrome 7, also known as hps7, is related to isolated delta-storage pool disease and hermansky-pudlak syndrome 2, and has symptoms including epistaxis, visual impairment and nystagmus. An important gene associated with Hermansky-Pudlak Syndrome 7 is DTNBP1 (Dystrobrevin Binding Protein 1). Affiliated tissues include lung, skin and eye.
Disease Ontology:11 A type of hermansky-pudlak syndrome caused by homozygous mutation in the dtnbp1 gene on chromosome 6p22.3.
Description from OMIM:50 614076
Diseases in the Hermansky-Pudlak Syndrome family:
Diseases related to Hermansky-Pudlak Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:
HPO human phenotypes related to Hermansky-Pudlak Syndrome 7:(show all 8)
MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 7:34
Lung, Skin, Eye
Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 7:5
Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 7.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet