Hermansky-Pudlak syndrome 7
Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.
Also known as: DTNBP1 Hermansky-Pudlak syndrome, HPS7, Hermansky-Pudlak syndrome 7, Hermansky-Pudlak syndrome caused by mutation in DTNBP1, Hermansky-Pudlak syndrome type 7.
Category: General
Symptoms associated with Hermansky-Pudlak syndrome 7
The following symptoms have been associated with Hermansky-Pudlak syndrome 7 in medical literature. Not everyone experiences the same symptoms.
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....
Menorrhagia
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days....
Persistent bleeding after trauma
Information about Persistent bleeding after trauma....
Post-partum hemorrhage
Significant maternal hemorrhage/blood loss following deilvery of a child....
Prolonged bleeding after dental extraction
Prolonged bleeding post dental extraction sufficient to require medical intervention....
Prolonged bleeding time
Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding....
Tests used to investigate Hermansky-Pudlak syndrome 7
Healthcare providers may order these tests when evaluating Hermansky-Pudlak syndrome 7. 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 7, which is why a clinical evaluation is important.
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Congenital factor X deficiency
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Congenital factor XIII deficiency
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Congenital plasminogen activator inhibitor type 1 deficiency
Congenital plasminogen activator inhibitor type 1 deficiency is a medical condition that may be associated wit...
von Willebrand disease 1
Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated wi...
Frequently Asked Questions
What is Hermansky-Pudlak syndrome 7?
Hermansky-Pudlak syndrome 7 is a health condition described in medical literature. Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.
What are the symptoms of Hermansky-Pudlak syndrome 7?
Hermansky-Pudlak syndrome 7 is associated with 7 symptoms in the medical literature we index, including Bruising susceptibility, Epistaxis, Menorrhagia, Persistent bleeding after trauma, Post-partum hemorrhage, Prolonged bleeding after dental extraction. Symptoms vary widely between individuals.
How is Hermansky-Pudlak syndrome 7 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Hermansky-Pudlak syndrome 7 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 7, please discuss your symptoms with a qualified healthcare provider.