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Disease Profile
Refsum disease, infantile form
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
All ages
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)
Infantile Refsum disease; IRD; Infantile form of phytanic acid storage disease
Categories
Congenital and Genetic Diseases; Digestive Diseases; Eye diseases;
Summary
Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS). PBD-ZSS is a group of
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 | ||
Constriction of peripheral visual field |
Limited peripheral vision
|
0001133 |
Elevated levels of phytanic acid | 0010571 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Global |
0001263 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ] |
0000662 |
Progressive muscle weakness | 0003323 | |
Rod-cone dystrophy | 0000510 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Very long chain fatty acid accumulation | 0008167 | |
30%-79% of people have these symptoms | ||
0001251 | ||
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 |
Muscular |
Low or weak muscle tone
|
0001252 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Sensorineural hearing impairment | 0000407 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
5%-29% of people have these symptoms | ||
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
Disease of the heart muscle
|
0001638 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Facial palsy |
Bell's palsy
|
0010628 |
Ichthyosis | 0008064 | |
Optic atrophy | 0000648 | |
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
Abnormal bleeding |
Bleeding tendency
|
0001892 |
Abnormal electroretinogram | 0000512 | |
0000007 | ||
Symptoms present at birth
|
0003577 | |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
Flat face |
Flat facial shape
|
0012368 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hypocholesterolemia |
Decreased circulating cholesterol level
|
0003146 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Malar flattening |
Zygomatic flattening
|
0000272 |
0000939 | ||
Polyneuropathy |
Peripheral nerve disease
|
0001271 |
Single transverse palmar crease | 0000954 | |
Steatorrhea |
Fat in feces
|
0002570 |
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 main differential diagnoses include Usher syndrome I and II, other PBD-ZSS disorders (see these terms), single enzyme defects in peroxisome fatty acid beta-oxidation, and disorders that feature severe hypotonia, neonatal seizures, liver dysfunction or leukodystrophy. IRD should not be confused with adult Refsum disease (see this term).
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
-
Global Foundation for Peroxisomal Disorders
5147 South Harvard Avenue
Suite 181
Tulsa, OK 74135
Telephone: 347-470-4373
Fax: 918-516-0227
E-mail: [email protected]
Website: https://www.thegfpd.org
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.
In-Depth Information
- 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, infantile form. Click on the link to view a sample search on this topic.
References
- Nancy Braverman. Infantile Refsum disease. Orphanet. December 2012; https://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=772. Accessed 5/20/2015.
- NINDS Infantile Refsum Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). September 27, 2011; https://www.ninds.nih.gov/disorders/refsum_infantile/refsum_infantile.htm. Accessed 5/20/2015.