Details of Disease

General Information of Disease (ID: DISVT0J8)

Disease Name Hermansky-Pudlak syndrome 9
Synonyms HPS9; Hermansky-Pudlak syndrome 9; BLOC1S6 Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome caused by mutation in BLOC1S6; Hermansky-Pudlak syndrome type 9
Definition Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.
Disease Hierarchy
DISQP21Z: Hereditary hemophagocytic lymphohistiocytosis
DISCY0HQ: Hermansky-Pudlak syndrome
DISVT0J8: Hermansky-Pudlak syndrome 9
Disease Identifiers
MONDO ID
MONDO_0013606
UMLS CUI
C3280026
OMIM ID
614171
MedGen ID
481656
Orphanet ID
280663

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
BLOC1S6 OT96NE03 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.