Hermansky-Pudlak Syndrome 6 (HPS6)

Alias:
Hps6
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial
Hermansky-Pudlak Syndrome, Type 6
Platelet Storage Pool Deficiency
Delta Storage Pool Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hermansky-Pudlak Syndrome 6, also known as hps6, is related to hermansky-pudlak syndrome 5 and hermansky-pudlak syndrome 3, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome 6 is HPS6 (HPS6 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3). The drugs Pirfenidone and Pravastatin have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are nystagmus and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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12
81
6

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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