Log In|Sign Up
ENHermansky-Pudlak Syndrome Due to Bloc-3 Deficiency
Alias:
Hermansky-Pudlak Syndrome with Pulmonary Fibrosis
Hps with Pulmonary Fibrosis
Favorite
Hermansky-Pudlak Syndrome Due to Bloc-3 Deficiency, also known as hermansky-pudlak syndrome with pulmonary fibrosis, is related to hermansky-pudlak syndrome and hermansky-pudlak syndrome 1. An important gene associated with Hermansky-Pudlak Syndrome Due to Bloc-3 Deficiency is HPS1 (HPS1 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1), and among its related pathways/superpathways is Rab regulation of trafficking. Affiliated tissues include skin and eye, and related phenotypes are pigmentation and hearing/vestibular/ear
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
