Details of Disease

General Information of Disease (ID: DIST2J91)

Disease Name Hermansky-Pudlak syndrome 8
Synonyms Hermansky-Pudlak syndrome type 8; HPS8; BLOC1S3 Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 8; Hermansky-Pudlak syndrome caused by mutation in BLOC1S3
Definition Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.
Disease Hierarchy
DISCY0HQ: Hermansky-Pudlak syndrome
DIST2J91: Hermansky-Pudlak syndrome 8
Disease Identifiers
MONDO ID
MONDO_0013560
UMLS CUI
C3888026
OMIM ID
614077
MedGen ID
854728
Orphanet ID
231537

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
BLOC1S3 OTNRFFLW Strong Autosomal recessive [1]
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References

1 A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet. 2006 Jan;78(1):160-6. doi: 10.1086/499338. Epub 2005 Nov 28.