Deoxyhypusine synthase (DHPS) is involved in the synthesis of an unusual amino acid, hypusine, which is found in only a single protein, eukaryotypic translation initiation factor-5A (EIF5A). EIF5A promotes translation elongation, or production of many proteins. There are no known humans with mutations in EIF5A.
DHPS is a genetic condition that occurs when a change or mutation in DNA is inherited from both parents in an autosomal recessive manner, which means that both copies of the DHPS gene in each cell have a mutation. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but do not show signs and symptoms of the condition. DHPS is an autosomal recessive disorder of the 19th chromosome and diagnosis is achieved through exome sequencing. Information about DHPS is sparse and as a result, options for treatment and management of the disease remain unknown.
We believe that mutations in the gene deoxyhypusine synthase (DHPS) is responsible for/related to:
The DHPS Registry is an online registry for patients with DHPS. It will be hosted by the National Organization for Rare Disorders (NORD); an independent non-profit patient advocacy organization dedicated to individuals with rare diseases and the organizations who serve them and as such is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. The registry will collect information from participants, (or their authorized respondents), who are affected by DHPS.
What is a Patient Registry?
A patient registry is an online data system that systematically collects, stores, and retrieves patient data for analysis in research studies. The DHPS Patient Registry serves to:
What types of data will be collected in the DHPS Patient Registry? Is the data secure?
The DHPS Patient Registry collects data on the following topics:
The DHPS Registry follows strict government guidelines to assure patient information is protected. The registry platform is served over HTTPS, providing encryption of traffic to prevent eavesdropping and man-in-the-middle attacks. Communication between the registry platform application server and the database are also encrypted.