Hereditary cerebral hemorrhage with amyloidosis
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.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
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
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.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
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.
Other Names (AKA)
Cerebral amyloid angiopathy; HCHWA; CAA, familial;
Hereditary cerebral hemorrhage with amyloidosis (HCHWA) is a neurological condition in which an abnormal
- The Dutch, Arctic, Piedmont, Iowa, Flemish, Italian types are caused by
mutationsin the APP gene
- The British and Danish types are caused by mutations in the ITM2B gene
- The Icelandic type is caused by mutations in the CST3 gene
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||
|Percent of people who have these symptoms is not available through HPO|
|Cerebral amyloid angiopathy||0011970|
Disruption of blood oxygen supply to brain
[ more ]
|Recurrent cerebral hemorrhage||0004968|
|Tortuous cerebral arteries||
Twisted cerebral arteries
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
Differential diagnoses include all other conditions that could cause lobar intracerebral hemorrhage such as coagulopathies, vasculitis, intravascular large B-cell lymphoma (see these terms), CNS neoplasms, cavernous malformations, cerebral vascular malformation and antecedent trauma
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
- Amyloidosis Awareness is an illustrated booklet for patients and physicians developed by Amyloidosis Support Groups Inc. Versions of the booklet are also available in Spanish and Portuguese.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Hereditary cerebral hemorrhage with amyloidosis. This website is maintained by the National Library of Medicine.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 cerebral hemorrhage with amyloidosis. Click on the link to view a sample search on this topic.
- Dr Joost HAAN, Dr G.M. [Gisela] TERWINDT. Hereditary cerebral hemorrhage with amyloidosis. Orphanet. February 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458.
- hereditary cerebral amyloid angiopathy. Genetics Home Reference. May 2012; https://ghr.nlm.nih.gov/condition/hereditary-cerebral-amyloid-angiopathy.
- Menon RS. Cerebral Amyloid Angiopathy. Medscape. April 25, 2016; https://emedicine.medscape.com/article/1162720-overview.