Synonyms: Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
A rare multisystemic disease characterized by small-vessel brain disease cerebral aneurysm and extracerebral findings involving the kidney muscle and small vessels of the eye.
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 September 2023.
Newly diagnosed with
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
For a list of clinical trials in this disease area, please click here.