Hermansky-Pudlak syndrome can, however, shorten lifespan due to lung disease or bleeding problems.

Hermansky-Pudlak syndrome is thought to be inherited as an autosomal recessive genetic trait.

There are three main disorders caused by Hermansky-Pudlak syndrome, which result in these symptoms:

A deficiency of CD63 can be associated with Hermansky-Pudlak syndrome.

Rare, a 2012 documentary about the rare disease Hermansky-Pudlak syndrome and the search for a treatment.

Neutrophil function in Hermansky-Pudlak syndrome seems normal.

An improved method for measuring endogenous serotonin in platelet of patients with Hermansky-Pudlak syndrome.

Hermansky-Pudlak syndrome also impairs vision.

Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6 characterized by albinism and prolonged bleeding.

Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by a single gene.

His group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and sialic acid diseases.

Hermansky-Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.

Albinism and Hermansky-Pudlak Syndrome in Puerto Rico.

Mutation in the DTNBP1 gene was also shown to cause Hermansky-Pudlak syndrome type 7.

Platelet aggregation independent of ADP release or prostaglandin synthesis in patients with the Hermansky-Pudlak syndrome.

Mutual support and education for families affected by Hermansky-Pudlak Syndrome and Chediak Higashi Syndrome.

Write: Hermansky-Pudlak Syndrome Network c/o Donna Jean Appell 1 South Rd.

Addition of polyphosphates restored defective plasma clotting of Hermansky-Pudlak syndrome patients, indicating that the inorganic polymer is the endogenous factor XII activator in vivo.

Suzuki T, Li W, Zhang Q, et al.: Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.

Patients with Hermansky-Pudlak syndrome have a bleeding diathesis secondary to platelet dysfunction and also experience restrictive lung disease (pulmonary fibrosis), inflammatory bowel disease, cardiomyopathy, and renal disease.

Wildenberg SC, Oetting WS, Almodóvar C, et al.: A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.

The HPS Network, which promotes research, fellowship and advocacy for individuals with a specific type of albinism known as Hermansky-Pudlak Syndrome, has been a long-standing sister organization to NOAH.

This syndrome, known as Hermansky-Pudlak syndrome, is inherited in an autosomal recessive manner but may have a pseudodominant inheritance in Puerto Rican families, owing to the high prevalence in this population.

Anikster Y, Huizing M, White J, et al.: Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Morgan NV, Pasha S, Johnson CA, et al.: A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

The hepatopulmonary syndrome is suspected in any patient with known liver disease who reports dyspnea (particularly platypnea).

These abnormal phenomena are usually seen in chronic bronchitis, asthma, hepatopulmonary syndrome, and acute pulmonary edema.

The hepatopulmonary syndrome results from the formation of microscopic intrapulmonary arteriovenous dilatations in patients with both chronic and acute liver failure.

Hepatopulmonary syndrome - blood bypassing the normal lung circulation (shunting), leading to cyanosis and dyspnea (shortness of breath), characteristically worse on sitting up.

With liver transplantation, the 5 year survival rate is 76%, which is comparable to patients who undergo liver transplants who do not suffer from hepatopulmonary syndrome.

Platypnea is due to either hepatopulmonary syndrome or an anatomical cardiovascular defect increasing positional right-to-left shunting (bloodflow from the right to the left part of the circulatory system).

In medicine, hepatopulmonary syndrome is a syndrome of shortness of breath and hypoxemia (low oxygen levels in the blood of the arteries) caused by vasodilation (broadening of the blood vessels) in the lungs of patients with liver disease.