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Disease Profile

Oculocutaneous albinism type 1

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 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Infancy

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ICD-10

E70.3

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)

OCA1; Oculocutaneous albinism type 1A; OCA1A;

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes. Signs and symptoms include very fair skin, white hair, an increased risk for skin damage with sun exposure, reduced vision (sharpness), light colored irises, nystagmus, and photophobia (eyes are sensitive to light). It is caused by changes in the TYR gene and is inherited in an autosomal recessive fashion.[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 morphology of the choroidal vasculature
0025568
Abnormality of visual evoked potentials
0000649
Blue irides
Blue eyes
0000635
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity

[ more ]

0000992
Depigmented fundus
0007680
Generalized hypopigmentation
Fair skin
Pale pigmentation

[ more ]

0007513
Generalized hypopigmentation of hair
0011358
Hypoplasia of the fovea
0007750
Iris hypopigmentation
Light eye color
0007730
Iris transillumination defect
0012805
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic nerve misrouting
0025551
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity

[ more ]

0000613
30%-79% of people have these symptoms
Amblyopia
Lazy eye
Wandering eye

[ more ]

0000646
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
White eyebrow
Pale eyebrow
0002226
White eyelashes
Blonde eyelashes
Pale eyelashes

[ more ]

0002227
5%-29% of people have these symptoms
Thickened skin
Thick skin
0001072
1%-4% of people have these symptoms
Actinic keratosis
0025127
Percent of people who have these symptoms is not available through HPO
Absent skin pigmentation
Lack of skin coloration
0200098
Albinism
0001022
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Autosomal recessive inheritance
0000007
Congenital onset
Symptoms present at birth
0003577
Exotropia
Outward facing eye ball
0000577
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Ocular albinism
Absent pigmentation in the eye
0001107
Reduced visual acuity
Decreased clarity of vision
0007663
White hair
0011364

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

    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

      • Genetics Home Reference (GHR) contains information on Oculocutaneous albinism type 1. This website is maintained by the National Library of Medicine.

        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.
        • 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 Oculocutaneous albinism type 1. Click on the link to view a sample search on this topic.

          References

          1. Oculocutaneous albinism. Genetics Home Reference. March 2007; https://ghr.nlm.nih.gov/condition/oculocutaneous-albinism. Accessed 10/15/2012.