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Disease Profile
Tangier disease
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
Neonatal
ICD-10
E78.6
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)
High density lipoprotein deficiency, type 1; HDLDT1; High density lipoprotein deficiency, Tangier type;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;
Summary
Tangier disease is an
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 | ||
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
Hypocholesterolemia |
Decreased circulating cholesterol level
|
0003146 |
30%-79% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Accelerated atherosclerosis | 0004943 | |
Chronic noninfectious lymphadenopathy | 0002730 | |
Coronary artery stenosis |
Narrowing of coronary artery
|
0005145 |
Distal muscle weakness |
Weakness of outermost muscles
|
0002460 |
Dry skin | 0000958 | |
Ectropion |
Eyelid turned out
|
0000656 |
Enlarged liver and spleen
|
0001433 | |
Nail dystrophy |
Poor nail formation
|
0008404 |
Orange discolored tonsils | 0030814 | |
Peripheral axonal neuropathy | 0003477 | |
Progressive |
0007133 | |
5%-29% of people have these symptoms | ||
Low number of red blood cells or hemoglobin
|
0001903 | |
Carotid artery stenosis |
Narrowing of carotid artery
|
0100546 |
Corneal opacity | 0007957 | |
Facial diplegia | 0001349 | |
Impaired thermal sensitivity | 0006901 | |
Left ventricular hypertrophy | 0001712 | |
Syringomyelia |
Fluid-filled cyst in spinal cord
|
0003396 |
Low platelet count
|
0001873 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Cicatricial ectropion | 0025608 | |
Coronary artery atherosclerosis |
Plaque build-up in arteries supplying blood to heart
|
0001677 |
Decreased HDL cholesterol concentration |
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol
[ more ] |
0003233 |
Distal amyotrophy |
Distal muscle wasting
|
0003693 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Impaired pain sensation |
Decreased pain sensation
|
0007328 |
Impaired temperature sensation |
Abnormality of temperature sensation
Loss of temperature sensation
[ more ] |
0010829 |
Myocardial infarction |
Heart attack
|
0001658 |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Opacification of the corneal stroma | 0007759 | |
Peripheral demyelination | 0011096 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
Cause
Diagnosis
Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
Talk to your health care provider or a genetic professional to learn more about your testing options.
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.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
To reduce the risk for heart and blood vessel disease, people with this condition should maintain a low fat (especially saturated fat) diet and overall healthy lifestyle. Heart disease
To date, no treatment has been found to prevent the progression of this disease, including trials of omega-3-fatty acids, antioxidants, and vitamin E.[2]
Individuals with Tangier disease may benefit from referral to specialized lipid centers for advanced management. Consultation with the following specialists may be required:[3]
-
Lipidologist
-
Endocrinologist -
Cardiologist -
Vascular specialist
-
Cardiovascular surgeon
-
Dietitian
Related diseases
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 Apolipoprotein A-I deficiency, LCAT deficiency (see these terms) and secondary causes of extremely low HDL cholesterol levels that include medications (androgenic steroids, paradoxical response to fibrates) and malignancies.
Visit the Orphanet disease page for more information.
|
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
-
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org -
National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Brighton, MA 02135
Toll-free: 800-90-NTSAD (906-8723)
Telephone: 617-277-4463
Fax: 617-277-0134
E-mail: [email protected]
Website: https://www.ntsad.org/
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 Tangier disease. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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 Tangier disease. Click on the link to view a sample search on this topic.
References
- Tangier disease. Genetics Home Reference (GHR). 2010; https://ghr.nlm.nih.gov/condition/tangier-disease. Accessed 8/19/2011.
- Assmann G, von Eckardstein A, Brewer HB. Familial analphalipoproteinemia: Tangier disease. In: Scriver et al., eds.. The Metabolic & Molecular Basis of Inherited Disease. 8th Ed. 2001;
- Singh VN, Citkowitz E. Low HDL Cholesterol (Hypoalphalipoproteinemia) Treatment & Management. eMedicine. 2009; https://emedicine.medscape.com/article/127943-treatment#showall. Accessed 8/19/2011.
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