Details of Disease

General Information of Disease (ID: DISV6R72)

Disease Name Hermansky-Pudlak syndrome 10
Synonyms Hermansky-Pudlak syndrome 10; HPS10; HPS10; Hermansky-Pudlak syndrome caused by mutation in AP3D1; Hermansky-Pudlak syndrome 10; Hermansky-Pudlak syndrome type 10; AP3D1 Hermansky-Pudlak syndrome
Definition Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.
Disease Hierarchy
DISCY0HQ: Hermansky-Pudlak syndrome
DISV6R72: Hermansky-Pudlak syndrome 10
Disease Identifiers
MONDO ID
MONDO_0014885
UMLS CUI
C4310746
OMIM ID
617050
MedGen ID
934713

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
AP3D1 OTJLI0IM Moderate 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.