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Disease Profile
X-linked 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.
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Age of onset
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ICD-10
#N/A
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)
Heterotopia periventricular X-linked dominant; Periventricular nodular heterotopia 1; Heterotopia familial nodular;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Symptoms typically begin with
X-linked periventricular heterotopia is caused by
EDS with periventricular heterotopia, previously considered a variant of EDS, is now considered to be the same as X-linked periventricular heterotopia type 1 (PVNH1) and is not included as an EDS subtype under the 2017 classification of EDS.
Symptoms
Other signs and symptoms may include:[3][5]
- Heart problems (patent ductus arteriosus, dilatation and rupture of the thoracic aorta, atrial and ventricular septal defects, weakness of the cardiac valves)
Congenital strabismus - Shortened fingers and toes
- Hyperflexible joints
- Pulmonary (lung) disease
- Skin that is very elastic
Less commonly, people with X-linked periventricular heterotopia may have other brain findings, gastrointestinal symptoms, and musculoskeletal symptoms similar to those seen in Ehlers-Danlos syndrome.[3][4][5]
Males with this condition often have much more severe symptoms than females. IN many cases, males with this condition do not survive to birth.[3][4]
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 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of neuronal migration | 0002269 | |
Abnormality of the coagulation cascade | 0003256 | |
Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
Gray matter heterotopia | 0002282 | |
Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 |
Seizure | 0001250 | |
Stroke | 0001297 | |
0001423 |
Cause
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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
Additionally, it is recommended that individuals with X-linked periventricular heterotopia undergo carotid and abdominal
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
-
PVNH Support & Awareness
206-1082 West 8th Avenue
Vancouver British Columbia, V6H 1C4 Canada
Telephone: +1-604-714-1222
E-mail: [email protected]
Website: https://pvnhsupport.com/
Organizations Providing General Support
-
Epilepsy Foundation
8301 Professional Place East
Suite 230
Landover, MD 20785
Toll-free: 800-332-1000 (24/7 Helpline)
Telephone: +1-301-459-3700
Fax: +1-301-577-2684
E-mail: [email protected]
Website: https://www.epilepsy.com/
en Español 1-866-748-8008
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 X-linked periventricular heterotopia. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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 X-linked periventricular heterotopia. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Lange M, Kasper B, Bohring A, et al. 47 patients with FLNA associated periventricular nodular heterotopia. Orphanet Journal of Rare Diseases. 2015;10:134.
References
- Cupo, L & cols. Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias. Am J Med. 1981; 71:1051-1058. https://www.amjmed.com/article/0002-9343(81)90341-7/abstract.
- Gomez-Garre & cols. Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. J Med Genet. 43:232-237. https://connection.ebscohost.com/c/articles/20448079/ehlers-danlos-syndrome-periventricular-nodular-heterotopia-spanish-family-single-flna-mutation.
- 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.
- Lange M, Kasper B, Bohring A, et al. 47 patients with FLNA associated periventricular nodular heterotopia. Orphanet Journal of Rare Diseases. October 2015; 10(134):https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608144/.
- Hui Chen M & Wals CA. FLNA-Related Periventricular Nodular Heterotopia. GeneReviews. September 17, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1213/.
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