Details of Disease

General Information of Disease (ID: DISV59JX)

Disease Name Hermansky-Pudlak syndrome 4
Synonyms HPS4; Hermansky-Pudlak syndrome caused by mutation in HPS4; Hermansky-Pudlak syndrome type 4; Hermansky-Pudlak syndrome 4; HPS4 Hermansky-Pudlak syndrome
Definition Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.
Disease Hierarchy
DISCY0HQ: Hermansky-Pudlak syndrome
DISHOVR0: Hermansky-Pudlak syndrome with pulmonary fibrosis
DISV59JX: Hermansky-Pudlak syndrome 4
Disease Identifiers
MONDO ID
MONDO_0013556
UMLS CUI
C3484357
OMIM ID
614073
MedGen ID
483344

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 Strong Biomarker [1]
HPS4 OTBTW01J Definitive Autosomal recessive [2]
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References

1 Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease.J Immunol. 2018 Mar 15;200(6):2140-2153. doi: 10.4049/jimmunol.1701442. Epub 2018 Feb 2.
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.