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Disease Profile
Refsum 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.
1-9 / 1 000 000
Age of onset
Childhood
ICD-10
G60.1
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)
Disorder of cornification 11 (phytanic acid type); Hereditary sensory and motor neuropathy type 4; HMSN 4;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
Refsum 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 | ||
Abnormal pyramidal sign | 0007256 | |
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
Abnormality of retinal pigmentation | 0007703 | |
Anosmia |
Lost smell
|
0000458 |
0001251 | ||
Disease of the heart muscle
|
0001638 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Dry skin | 0000958 | |
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
Ichthyosis | 0008064 | |
Nail dysplasia |
Atypical nail growth
|
0002164 |
0009830 | ||
Retinopathy |
Noninflammatory retina disease
|
0000488 |
Sensorineural hearing impairment | 0000407 | |
Skeletal dysplasia | 0002652 | |
30%-79% of people have these symptoms | ||
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Hammertoe |
Hammer toe
Hammertoes
[ more ] |
0001765 |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Miosis |
Constricted pupils
Pupillary constriction
[ more ] |
0000616 |
Muscular |
Low or weak muscle tone
|
0001252 |
Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ] |
0000662 |
Drooping upper eyelid
|
0000508 | |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
Splenomegaly |
Increased spleen size
|
0001744 |
5%-29% of people have these symptoms | ||
Abnormal renal physiology |
Abnormal kidney function
Kidney function issue
[ more ] |
0012211 |
Heart block | 0012722 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Pes cavus |
High-arched foot
|
0001761 |
Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] |
0000529 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Percent of people who have these symptoms is not available through HPO | ||
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
0000007 | ||
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ] |
0001640 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Elevated levels of phytanic acid | 0010571 | |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Increased CSF |
0002922 | |
Limb muscle weakness |
Limb weakness
|
0003690 |
Multiple epiphyseal dysplasia | 0002654 | |
Retinal degeneration |
Retina degeneration
|
0000546 |
Rod-cone dystrophy | 0000510 | |
Sensorimotor neuropathy |
Nerve damage causing decreased feeling and movement
|
0007141 |
Sensory impairment | 0003474 | |
Short fourth metatarsal |
Short 4th long bone of foot
|
0004689 |
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
|
---|
Other causes of retinitis pigmentosa and sensorineural hearing loss should be considered in the differential diagnosis (Usher syndromes, types 1, 2, and 3; Alström syndrome; Kearns-Sayre syndrome; Sjögren-Larsson syndrome). Refsum disease should not be confused with infantile Refsum disease a misnomer that belongs to the Zellweger syndrome spectrum.
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
-
Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Toll-free: 1-800-683-5555
Telephone: +1-410-423-0600
TTY: 1-800-683-5551
E-mail: [email protected]
Website: https://www.fightingblindness.org/ -
Foundation for Ichthyosis and Related Skin Types (FIRST)
2616 North Broad Street
Colmar, PA 18915
Toll-free: 1-800-545-3286
Telephone: +1-215-997-9400
E-mail: [email protected]
Website: https://www.firstskinfoundation.org/ -
Global DARE Foundation
P.O.Box 865
Windham, ME 04062
E-mail: [email protected]
Website: https://www.defeatadultrefsumeverywhere.org/ -
The Foundation for Peripheral Neuropathy
485 Half Day Road
Suite 350
Buffalo Grove, IL 60089
Telephone: +1-877-883-9942
Fax: +1-847-883-9960
E-mail: https://www.foundationforpn.org/contact-us/
Website: https://www.foundationforpn.org
Social Networking Websites
- Visit the following Facebook groups related to Refsum disease:
Refsum Friends
Organizations Providing General Support
-
United Leukodystrophy Foundation (ULF)
224 North Second Street
Suite 2
DeKalb, IL 60115
Toll-free: 1-800-728-5483
Telephone: +1-815-748-3211
Fax: +1-815-748-0844
E-mail: [email protected]
Website: https://ulf.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 Refsum disease. 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.
- 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
- 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.
- 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 Refsum disease. Click on the link to view a sample search on this topic.
References
- Refsum disease. Genetics Home Reference. January 2010; https://ghr.nlm.nih.gov/condition/refsum-disease. Accessed 11/9/2011.