Details of Disease

General Information of Disease (ID: DIS37WS6)

Disease Name Hermansky-Pudlak syndrome 5
Synonyms HPS5; HPS5 Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome caused by mutation in HPS5; Hermansky-Pudlak syndrome type 5; Hermansky-Pudlak syndrome 5
Definition Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.
Disease Hierarchy
DIS0UYNY: Hermansky-Pudlak syndrome without pulmonary fibrosis
DISCY0HQ: Hermansky-Pudlak syndrome
DIS37WS6: Hermansky-Pudlak syndrome 5
Disease Identifiers
MONDO ID
MONDO_0013557
UMLS CUI
C3888004
OMIM ID
614074
MedGen ID
854711

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ATIC TT9NVXQ Strong Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HPS5 OTLO2374 Definitive Autosomal recessive [2]
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References

1 Haemophilus parasuis infection in 3D4/21 cells induces autophagy through the AMPK pathway.Cell Microbiol. 2019 Aug;21(8):e13031. doi: 10.1111/cmi.13031. Epub 2019 Apr 26.
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.