Details of Disease | DrugMAP

General Information of Disease (ID: DISIWQ1G)

Disease Name	Hermansky-Pudlak syndrome 6
Synonyms	HPS6; Hermansky-Pudlak syndrome caused by mutation in HPS6; Hermansky-Pudlak syndrome type 6; Hermansky-Pudlak syndrome 6; HPS6 Hermansky-Pudlak syndrome
Definition	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.
Disease Hierarchy	DIS0UYNY: Hermansky-Pudlak syndrome without pulmonary fibrosis DISCY0HQ: Hermansky-Pudlak syndrome DISIWQ1G: Hermansky-Pudlak syndrome 6
Disease Identifiers	MONDO ID MONDO_0013558 UMLS CUI C3888007 OMIM ID 614075 MedGen ID 854714

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HPS6	OTXL5KQW	Definitive	Autosomal recessive	[1]
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References

1	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.