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Disease Profile
Periventricular heterotopia
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.
Unknown
Age of onset
Childhood
ICD-10
Q04.8
Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
Periventricular nodular heterotopia; PVNH
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Periventricular heterotopia is a condition in which the nerve
Symptoms
The
The
Periventricular heterotopia may also occur in association with other conditions such as Ehlers-Danlos
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 | ||
Abnormal bleeding |
Bleeding tendency
|
0001892 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Hernia | 0100790 | |
Pyloric stenosis | 0002021 | |
0002650 | ||
30%-79% of people have these symptoms | ||
Abnormal heart valve morphology | 0001654 | |
Aortic regurgitation | 0001659 | |
Focal-onset seizure |
Seizure affecting one half of brain
|
0007359 |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
Patent ductus arteriosus | 0001643 | |
Periventricular heterotopia | 0007165 | |
Thin skin | 0000963 | |
5%-29% of people have these symptoms | ||
Aortic aneurysm |
Bulge in wall of large artery that carries blood away from heart
|
0004942 |
Patellar dislocation |
Dislocated kneecap
|
0002999 |
Shoulder dislocation | 0003834 |
Diagnosis
•
• Evaluation by a
• Evaluation by a doctor specialized in
• Psychiatric evaluation if necessary
• Magnetic resonance angiography (MRA) of the brain vessels, carotid arteries, and aorta because of the risk for stroke
• Evaluation by a
• Evaluation by a
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
It is recommended that people with the
Treatment may also include surgery for removal of the lesion and more recently, laser ablation guided with magnetic resonance.[3][4]
Organizations
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.
Organizations Supporting this Disease
-
Brain Foundation
P O Box 579
Crows Nest, NSW
1585 Suite 21
Regent House 37-43
Alexander Street Crows Nest, NSW 2065
Australia
Telephone: 61 2 9437 5967
Fax: 61 2 9437 5978
E-mail: https://brainfoundation.org.au/contact
Website: https://www.brainfoundation.org.au/ -
PVNH Support & Awareness
206-1082 West 8th Avenue
Vancouver British Columbia, V6H 1C4 Canada
Telephone: +1-604-714-1222
E-mail: info@pvnhsupport.com
Website: https://pvnhsupport.com/
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
- 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 Periventricular heterotopia. 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.
- 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 Periventricular heterotopia. Click on the link to view a sample search on this topic.
References
- Sheen VL, Bodell A & Walsh CA. X-Linked Periventricular Heterotopia. GeneReviews. September 17, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1213/.
- Periventricular heterotopia. Genetics Home Reference (GHR). November, 2007; https://ghr.nlm.nih.gov/condition/periventricular-heterotopia.
- Agari T, Mihara T, Baba K, Kobayashi K, Usui N, Terada K, Nakamura F, Matsuda K & Date I. Successful treatment of epilepsy by resection of periventricular nodular heterotopia. Acta Med Okayama. 2012; 66(6):487-92. https://www.ncbi.nlm.nih.gov/pubmed/23254583. Accessed 8/11/2015.
- Esquenazi Y & cols. Stereotactic laser ablation of epileptogenic periventricular nodular heterotopia. Epilepsy. January 30, 2014; 108(3):547-54. https://www.ncbi.nlm.nih.gov/pubmed/24518890. Accessed 8/11/2015.
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