Hermansky-Pudlak syndrome 1
Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.
Also known as: HPS1 Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome caused by mutation in HPS1, Hermansky-Pudlak syndrome type 1, HPS1.
Category: General
Symptoms associated with Hermansky-Pudlak syndrome 1
The following symptoms have been associated with Hermansky-Pudlak syndrome 1 in medical literature. Not everyone experiences the same symptoms.
Abdominal pain
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perc...
Blindness
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. ...
Bruising susceptibility
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ru...
Epistaxis
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose....
Gingival bleeding
Hemorrhage affecting the gingiva....
Hematochezia
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colo...
Prolonged bleeding time
Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding....
Severely reduced visual acuity
Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less tha...
Tests used to investigate Hermansky-Pudlak syndrome 1
Healthcare providers may order these tests when evaluating Hermansky-Pudlak syndrome 1. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Hermansky-Pudlak syndrome 1, which is why a clinical evaluation is important.
Acute promyelocytic leukemia
Acute promyelocytic leukemia is a medical condition that may be associated with various symptoms and signs....
Congenital factor V deficiency
Congenital factor V deficiency is a medical condition that may be associated with various symptoms and signs....
Dengue fever
Dengue fever is a medical condition that may be associated with various symptoms and signs....
Polycythemia vera
Polycythemia vera is a medical condition that may be associated with various symptoms and signs....
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome is a medical condition that may be associated with various symptoms and signs....
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, e...
Frequently Asked Questions
What is Hermansky-Pudlak syndrome 1?
Hermansky-Pudlak syndrome 1 is a health condition described in medical literature. Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.
What are the symptoms of Hermansky-Pudlak syndrome 1?
Hermansky-Pudlak syndrome 1 is associated with 8 symptoms in the medical literature we index, including Abdominal pain, Blindness, Bruising susceptibility, Epistaxis, Gingival bleeding, Hematochezia. Symptoms vary widely between individuals.
How is Hermansky-Pudlak syndrome 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Hermansky-Pudlak syndrome 1 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Hermansky-Pudlak syndrome 1, please discuss your symptoms with a qualified healthcare provider.