Synonyms: CST3-related amyloidosis | Cystatin amyloidosis | HCHWA, Icelandic type | Hereditary cerebral hemorrhage with amyloidosis, Icelandic type | Hereditary cystatin C amyloid angiopathy
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis this subtype is due to a mutation in the CST3 gene (20p11.2) encoding the precursor protein cystatin C.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
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Amyloidosis Research Consortium
The Amyloidosis Research Consortium (ARC) is a patient-focused nonprofit, harnessing the power of collaboration and innovation to advance science and both improve and extend the lives of those with amyloidosis.
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Childhood Dementia Initiative
Childhood Dementia Initiative (CDI) is driving world first action in the consideration of the 70+ genetic conditions that cause childhood dementia under the one umbrella.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Moonshots for Unicorns
Curing single-gene disorders
New Zealand Amyloidosis Patients Association
To make a positive and lasting impact in New Zealand, helping Amyloidosis disease patients from various disease subgroups ( AL, AA, hATTR, Wild Type) by working with local and international doctors, pharma treatment entities, as well as government agencies to bring approved funded treatment drugs into NZ for suffering patients. We desire to help build a lasting support system within the NZ health framework. We want an excellent wrap-around network of care to achieve for the sufferer to achieve a positive outcome in their well-being. This mission includes the wellness of the patient's caregiver and family whose needs, we feel, have been neglected.
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.