Details of Disease | DrugMAP

General Information of Disease (ID: DISHOVR0)

Disease Name	Hermansky-Pudlak syndrome with pulmonary fibrosis
Synonyms	HPS with pulmonary fibrosis
Definition	Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.
Disease Hierarchy	DIS7FXIH: Interstitial lung disease specific to childhood DISCY0HQ: Hermansky-Pudlak syndrome DISHOVR0: Hermansky-Pudlak syndrome with pulmonary fibrosis
Disease Identifiers	MONDO ID MONDO_0016501 UMLS CUI C5679834 MedGen ID 1843223 Orphanet ID 231500

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	Supportive	Autosomal recessive	[1]
HPS4	OTBTW01J	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.