Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Other Names for this Disease
- HANAC syndrome
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Raynaud phenomenon, kidney cysts, blood in the urine (typically not visible to the eye), leukoencephalopathy (a change in brain tissue that can be seen on MRI), arteries in the back of the eye that twist and turn abnormally, headaches, and supraventricular arrhythmia. These signs and symptoms do not often cause serious complications, however temporary vision loss due to bleeding in the back of the eye, minor ischemic stroke, and bleeding complications with blood thinner use has been described. While muscle cramps may begin in childhood, many of the other symptoms do not appear until later in life. HANAC syndrome is caused by mutations in the COL4A1 gene. It is passed through families in a autosomal dominant fashion.Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is a genetic condition that causes blood vessels to become fragile. Signs and symptoms include muscle cramps,
Last updated: 5/14/2014
- COL4A1-related brain small-vessel disease. Genetics Home Reference. September 2011; http://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease. Accessed 5/14/2014.
- Plaisier E, Ronco P. COL4A1-Related Disorders. GeneReviews. March 8, 2011; http://www.ncbi.nlm.nih.gov/books/NBK7046/. Accessed 5/14/2014.
- Genetics Home Reference (GHR) contains information on Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome. Click on the link to view a sample search on this topic.