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Disease Profile
Familial amyloidosis, Finnish type
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
Adult
ICD-10
E85.1
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)
Amyloidosis, Meretoja type; Amyloid cranial neuropathy with lattice corneal dystrophy; Amyloidosis V;
Categories
Congenital and Genetic Diseases; Eye diseases; Immune System Diseases;
Summary
Symptoms
Eye symptoms typically begin first. The amyloid deposits cloud the cornea, often leading to vision impairment.[1] Other eye symptoms may include dryness, irritation and light sensitivity. Affected individuals may eventually develop
As the condition progresses, the nerves become involved (typically in an individual's 40s). Dysfunction of the nerves in the head and face (cranial nerves) causes paralysis of facial muscles and decreased sensation, which can lead to difficulty speaking, chewing, and swallowing.[1] Facial paralysis can also cause additional eye symptoms including ectropium (turning out of the eyelid), corneal ulcers, or droopy eyelids (
Skin manifestations may also begin in a person's 40s and include a thickened, sagging appearance and cutis laxa (loose skin that lacks elasticity), especially on the face.[2][1] Cutis laxa worsens with age.[2]
Other signs and symptoms that have been reported in some people include gastric motility changes, orodental problems, heart palpitations, cardiac conduction problems, and mild
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 | ||
Bilateral ptosis |
Drooping of both upper eyelids
|
0001488 |
Dermatological manifestations of systemic disorders | 0001005 | |
Dry skin | 0000958 | |
Keratoconjunctivitis sicca |
Dry eyes
|
0001097 |
Lattice corneal dystrophy | 0001149 | |
30%-79% of people have these symptoms | ||
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
0001251 | ||
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
Cataract |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 |
Constrictive median neuropathy | 0012185 | |
Corneal ulceration | 0012804 | |
Cutis laxa |
Loose and inelastic skin
|
0000973 |
Distal peripheral sensory neuropathy | 0007067 | |
Facial palsy |
Bell's palsy
|
0010628 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Myokymia | 0002411 | |
Polyneuropathy |
Peripheral nerve disease
|
0001271 |
Regional abnormality of skin | 0011356 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
Xerostomia |
Dry mouth
Dry mouth syndrome
Reduced salivation
[ more ] |
0000217 |
5%-29% of people have these symptoms | ||
Abnormal spleen morphology | 0025408 | |
Blepharochalasis | 0010749 | |
Disease of the heart muscle
|
0001638 | |
Diffuse skin atrophy | 0007488 | |
Difficulty articulating speech
|
0001260 | |
Glaucoma | 0000501 | |
Orthostatic hypotension due to autonomic dysfunction | 0004926 | |
Proteinuria |
High urine protein levels
Protein in urine
[ more ] |
0000093 |
Pruritus |
Itching
Itchy skin
Skin itching
[ more ] |
0000989 |
Sleep apnea |
Pauses in breathing while sleeping
|
0010535 |
Sparse hair | 0008070 | |
Tongue atrophy |
Wasting of the tongue
|
0012473 |
1%-4% of people have these symptoms | ||
Bulbar signs | 0002483 | |
Deficit in phonologic short-term memory | 0002549 | |
Depressivity |
Depression
|
0000716 |
Nail dystrophy |
Poor nail formation
|
0008404 |
Respiratory tract infection |
Respiratory infection
|
0011947 |
Stage 5 chronic |
0003774 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal abdomen morphology |
Abnormality of abdomen structure
|
0001438 |
Adult onset |
Symptoms begin in adulthood
|
0003581 |
0000006 | ||
Bulbar palsy | 0001283 | |
Cardiac amyloidosis | 0030843 | |
Generalized amyloid deposition | 0003216 | |
Nephrotic |
0000100 | |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
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
-
Amyloidosis Australia, Inc.
131-133 Napier Street
St. Arnaud,
Victoria, 3478
Australia
Telephone: 03 5495 1169
E-mail: info@amyloidosis.com.au
Website: https://www.amyloidosis.com.au/ -
Amyloidosis Foundation
7151 N. Main Street
Suite 2
Clarkston, MI 48346
Toll-free: 877-AMYLOID (1-877-269-5643)
E-mail: info@amyloidosis.org
Website: https://www.amyloidosis.org/ -
Amyloidosis Support Groups Inc.
232 Orchard Drive
Wood Dale, IL 60191
Toll-free: 866-404-7539
Telephone: 630-350-7539
E-mail: info@amyloidosissupport.org
Website: https://www.amyloidosissupport.org/ -
Cornea Research Foundation of America
9002 N. Meridian Street, Suite 212
Indianapolis, IN 46260
Telephone: 317-844-5610
Fax: 317-814-2806
E-mail: https://www.cornea.org/Contact.aspx
Website: https://www.cornea.org
Social Networking Websites
-
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
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
- 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.
- Genetics Home Reference (GHR) contains information on Familial amyloidosis, Finnish type. 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
- 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 Familial amyloidosis, Finnish type. Click on the link to view a sample search on this topic.
References
- Lattice corneal dystrophy type II. Genetics Home Reference. April, 2012; https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-ii. Accessed 11/18/2013.
- Tiia Pihlamaa, Sinikka Suominen, Sari Kiuru-Enari. Familial amyloidotic polyneuropathy type IV – gelsolin amyloidosis. Amyloid. June, 2012; 19(S1):30–33. Accessed 11/18/2013.
- Solomon JP, Page LJ, Balch WE, Kelly JW. Gelsolin amyloidosis: genetics, biochemistry, pathology and possible strategies for therapeutic intervention. Crit Rev Biochem Mol Biol. May-June, 2012; 47(3):282-296. Accessed 11/20/2013.
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