Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Synonyms: HUPRA syndrome
A rare genetic mitochondrial disease characterized by early-onset progressive renal failure manifesting with hyperuricemia hyponatremia hypomagnesemia hypochloremic metabolic alkalosis elevated BUN and polyuria associated with systemic manifestations which include pulmonary hypertension failure to thrive global developmental delay hypotonia and ventricular hypertrophy. Additional features include prematurity elevated serum lactate diabetes mellitus and in some pancytopenia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024
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Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome?
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Advocacy Organizations
Cardiac Community Advocacy and Support Initative
To advocate for, raise awareness about, and support people living with cardiovascular diseases, with a focus on the rare disease pulmonary hypertension.
Cure Mito Foundation
Our mission is to empower families to come together with a common goal of finding treatments, and ultimately a cure, for this devastating disease.
CureARS
Fund research for 19 mt-aars conditions and provide patient support.
Hellenic Community for Pulmonary Hypertension
The " Hellenic Community for Pulmonary Hypertension " is a non-profit organisation, of a voluntary nature, which began its work at the end of 2012 by the sufferers themselves and their caregivers, with the main objective of recognising, consolidating and updating all issues surrounding this unknown disease to the general public.Representation of the PH sufferers of the Greek & Cypriot territory.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
MitoAction
MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.
MitoCanada
MitoCanada's mission is to create a world where all lives are powered by healthy mitochondria. We are dedicated to supporting Canadians living with mitochondrial disease by developing education and awareness programs, advocating to improve the health and quality of life of those living with mito at provincial and federal levels, and we fund research that is patient-focused and transformational.
NGO Association of patients with Pulmonary Hypertension
Mission - to protect the rights of people with rare diseases - pulmonary hypertension, to defend their right to treatment, timely diagnosis and social protection.
Pulmonary Hypertension Association of Canada
To empower the Canadian pulmonary hypertension community through support, education, advocacy, awareness, and research.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Mito Foundation
Mito Foundation is Australia’s peak body dedicated to supporting and empowering people affected by mitochondrial disease (mito). Our mission is to be the catalyst of energy, hope and cures for every Australian impacted by mito. Mito is a debilitating genetic disorder that robs the body’s cells of energy, causing single or multiple organ dysfunction or failure, and in many instances death.
United Mitochondrial Disease Foundation (UMDF)
Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.
Clinical Trials
For a list of clinical trials in this disease area, please click here.