National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome


Other Names:
HANAC syndrome; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
Categories:
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, 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.
Last updated: 5/14/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Multiple renal cysts
Multiple kidney cysts
0005562
Muscle spasm 0003394
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Retinal vascular tortuosity 0012841
5%-29% of people have these symptoms
Hematuria
Blood in urine
0000790
Stroke 0001297
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Dilatation of the cerebral artery 0004944
Leukoencephalopathy 0002352
Nephropathy 0000112
Raynaud phenomenon 0030880
Renal cyst
Kidney cyst
0000107
Retinal arteriolar tortuosity 0001136
Retinal hemorrhage
Retinal bleeding
0000573
Supraventricular arrhythmia 0005115
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Last updated: 7/1/2020
In order to know how HANAC syndrome is affecting you, your doctor may recommend that you undergo a series of imaging tests of the brain and kidney, an eye exam, and blood tests (e.g., serum CK concentration).[1] While there is not a targeted treatment for HANAC syndrome, treatments are available to manage its signs and symptoms, such as drugs to reduce high blood pressure, manage headaches, and treat arrhythmia. People with HANAC syndrome may be regularly monitored (e.g., once a year) for signs and symptoms.[1] In order to reduce the risk for health complications, your doctor may advise you to avoid smoking, activities that can cause head trauma, and blood thinners (anticoagulants).[1]
Last updated: 5/14/2014

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis includes anophthalmia/microphthalmia (A/M), autosomal dominant retinal vasculopathy with cerebral leukodystrophy (RVCL), brain small-vessel with hemorrhage, cerebral autosomal dominant/recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL/CARASIL), COL4A2-related porencephaly and intracerebral hemorrhages, and porencephaly type I.
Visit the Orphanet disease page for more information.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Should I worry about having HANAC syndrome? I purchased a genetic test and this condition came up. See answer


  1. Plaisier E, Ronco P. COL4A1-Related Disorders. GeneReviews. March 8, 2011; http://www.ncbi.nlm.nih.gov/books/NBK7046/. Accessed 5/14/2014.
  2. 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.