Details of Disease

General Information of Disease (ID: DIS7WHK0)

Disease Name Hermansky-Pudlak syndrome 7
Synonyms Hermansky-Pudlak syndrome caused by mutation in DTNBP1; HPS7; DTNBP1 Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome type 7; Hermansky-Pudlak syndrome 7
Definition Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.
Disease Hierarchy
DISCY0HQ: Hermansky-Pudlak syndrome
DIS7WHK0: Hermansky-Pudlak syndrome 7
Disease Identifiers
MONDO ID
MONDO_0013559
UMLS CUI
C3279756
OMIM ID
614076
MedGen ID
481386
Orphanet ID
231531

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
DTNBP1 OT9UQT2S Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

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.