Details of Disease

General Information of Disease (ID: DISQMA1H)

Disease Name Hermansky-Pudlak syndrome 2
Synonyms
Hermansky Pudlak syndrome 2; Hermansky-Pudlak syndrome with neutropenia; Platelet defects and oculocutaneous albinism; HPS-2; Hermansky-Pudlak syndrome 2; Hermansky-Pudlak syndrome caused by mutation in AP3B1; Hermansky-Pudlak syndrome type 2; AP3B1 Hermansky-Pudlak syndrome; HPS2
Definition A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.
Disease Hierarchy
DISZ74WG: Constitutional neutropenia
DISQP21Z: Hereditary hemophagocytic lymphohistiocytosis
DISCY0HQ: Hermansky-Pudlak syndrome
DISQMA1H: Hermansky-Pudlak syndrome 2
Disease Identifiers
MONDO ID
MONDO_0011997
MESH ID
C537709
UMLS CUI
C1842362
OMIM ID
608233
MedGen ID
374912
Orphanet ID
183678

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TFF1 TTNOJIZ moderate Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AP3D1 OTJLI0IM Strong Biomarker [2]
AP3B1 OTYTIH5Q Definitive Autosomal recessive [3]
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References

1 Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.BMC Med Genet. 2013 Apr 4;14:42. doi: 10.1186/1471-2350-14-42.
2 Gravity receptor function in mice with graded otoconial deficiencies.Hear Res. 2004 May;191(1-2):34-40. doi: 10.1016/j.heares.2004.01.008.
3 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.