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Disease Profile

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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ICD-10

I99

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

HANAC syndrome; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Nervous System Diseases

Summary

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.

Symptoms

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.

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

Treatment

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]

Learn more

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.

References

  1. Plaisier E, Ronco P. COL4A1-Related Disorders. GeneReviews. March 8, 2011; https://www.ncbi.nlm.nih.gov/books/NBK7046/. Accessed 5/14/2014.
  2. COL4A1-related brain small-vessel disease. Genetics Home Reference. September 2011; https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease. Accessed 5/14/2014.

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