Details of Disease | DrugMAP

General Information of Disease (ID: DIS0UYNY)

Disease Name	Hermansky-Pudlak syndrome without pulmonary fibrosis
Synonyms	HPS without pulmonary fibrosis
Definition	Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.
Disease Hierarchy	DISCY0HQ: Hermansky-Pudlak syndrome DIS0UYNY: Hermansky-Pudlak syndrome without pulmonary fibrosis
Disease Identifiers	MONDO ID MONDO_0016502 UMLS CUI C5679833 MedGen ID 1842321 Orphanet ID 231512

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HPS3	OTAKROK7	Supportive	Autosomal recessive	[1]
HPS5	OTLO2374	Supportive	Autosomal recessive	[1]
HPS6	OTXL5KQW	Supportive	Autosomal recessive	[1]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.