Details of Disease

General Information of Disease (ID: DIS966LQ)

Disease Name Hermansky-Pudlak syndrome 1
Synonyms
albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells; HPS1; Delta storage pool disease; Hermansky-Pudlak syndrome caused by mutation in HPS1; Hermansky-Pudlak syndrome 1; HPS1 Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome type 1
Definition Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.
Disease Hierarchy
DISCY0HQ: Hermansky-Pudlak syndrome
DISHOVR0: Hermansky-Pudlak syndrome with pulmonary fibrosis
DIS966LQ: Hermansky-Pudlak syndrome 1
Disease Identifiers
MONDO ID
MONDO_0008748
MESH ID
C538539
UMLS CUI
C2931875
OMIM ID
203300
MedGen ID
419514

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC45A2 DTNCJAT Strong Genetic Variation [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RAB27A OT9SQRWY moderate Biomarker [2]
LYST OTIUB1B3 Strong Genetic Variation [3]
HPS1 OTKS5I7T Definitive Autosomal recessive [4]
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References

1 Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.J Genet Genomics. 2015 Jun 20;42(6):279-86. doi: 10.1016/j.jgg.2015.05.001. Epub 2015 May 29.
2 The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background.Blood. 2002 Jul 1;100(1):128-35. doi: 10.1182/blood.v100.1.128.
3 Genetics of pigmentary disorders.Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):75-81. doi: 10.1002/ajmg.c.30036.
4 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.