Details of Disease

General Information of Disease (ID: DIS7GFO2)

Disease Name Hermansky-Pudlak syndrome 3
Synonyms HPS3; Hermansky-Pudlak syndrome caused by mutation in HPS3; HPS3 Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome type 3; Hermansky-Pudlak syndrome 3
Definition Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.
Disease Hierarchy
DIS0UYNY: Hermansky-Pudlak syndrome without pulmonary fibrosis
DISCY0HQ: Hermansky-Pudlak syndrome
DIS7GFO2: Hermansky-Pudlak syndrome 3
Disease Identifiers
MONDO ID
MONDO_0013555
UMLS CUI
C3888001
OMIM ID
614072
MedGen ID
854708

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HPS1 OTKS5I7T Disputed Biomarker [1]
HPS3 OTAKROK7 Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.Hum Mutat. 2006 Nov;27(11):1158. doi: 10.1002/humu.9463.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.