Rare Dermatology News

Disease Profile

Refsum disease

Prevalence
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

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Childhood

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 inherited condition that causes vision loss, loss of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. Other features can include bone abnormalities of the hands and feet; progressive muscle weakness and wasting; poor balance and coordination (ataxia); hearing loss; arrhythmias and heart abnormalities; and dry, scaly skin (ichthyosis). Refsum disease can result from mutations in the PHYH gene or the PEX7 gene and is inherited in an autosomal recessive pattern.[1]

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
Ataxia
0001251
Cardiomyopathy
Disease of the heart muscle
0001638
Cataract
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
Peripheral neuropathy
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
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Hammertoe
Hammer toe
Hammertoes

[ more ]

0001765
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Miosis
Constricted pupils
Pupillary constriction

[ more ]

0000616
Muscular hypotonia
Low or weak muscle tone
0001252
Nyctalopia
Night blindness
Night-blindness
Poor night vision

[ more ]

0000662
Ptosis
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
Nystagmus
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
Autosomal recessive inheritance
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 protein
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

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

    Social Networking Websites

    • Visit the following Facebook groups related to Refsum disease:
      Refsum Friends

      Organizations Providing General Support

        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

          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

            1. Refsum disease. Genetics Home Reference. January 2010; https://ghr.nlm.nih.gov/condition/refsum-disease. Accessed 11/9/2011.