Hermansky-Pudlak syndrome , HPS (Abkürzung)
delta storage pool disease

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).