{"Name":"Oculocutaneous albinism type 1","DiseaseID__c":"GARD:0004037","id":4037,"encodedName":"oculocutaneous-albinism-type-1","IsDeleted":false,"Disease_Name_Full__c":"Oculocutaneous albinism type 1","Xref_IDs__c":"765146000; C0268494; C537728; MEDGEN:82809; MONDO:0018135; ORPHA:352731","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018135","Disease_Description__c":"A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).","GARD_Name__c":"Oculocutaneous albinism type 1","GARD_Synonym__c":"albinism 1; albinism i; oca1; tyr-gene related oculocutaneous albinism type 1","Curated_Disease_Description_Source__c":"GARD:0004037","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:352731","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018135","ORPHANET_ID__c":"ORPHA:352731","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Albinismo oculocutáneo tipo 1","Spanish_Description_Source__c":"ORPHA:352731","Spanish_Description__c":"Es una forma de albinismo oculocutáneo (OCA) caracterizado por un espectro de hipopigmentación cutánea, capilar y ocular, que varía desde pigmentación reducida o ausente hasta pigmentación localizada. Con frecuencia se asocia a nistagmo, fotofobia y disminución de la agudeza visual. Los subtipos incluyen OCA1A, OCA1B, albinismo oculocutáneo con pigmentación mínima tipo 1 (OCA1-MP) y albinismo oculocutáneo sensible a la temperatura tipo 1 (OCA1-TS).","Spanish_Disease_Name__c":"albinismo oculocutáneo tipo 1","Spanish_GARD_Synonym__c":"oca1","Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"GARD:0004037","GARD_Synonym__c":"albinism 1; albinism i; oca1; tyr-gene related oculocutaneous albinism type 1","Name":"Oculocutaneous albinism type 1","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Albinism Fellowship","Website__c":"https://www.albinism.org.uk/"},{"Account_Name__c":"The National Organization of Albinism and Hypopigmentation (NOAH)","Website__c":"https://www.albinism.org/"},{"Account_Name__c":"The Vision of Children Foundation","Website__c":"https://www.visionofchildren.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:352731"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:352731"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/352731","Source__c":"C0268494; MONDO:0018135; ORPHA:352731","Xref__c":"ORPHA:352731"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82809","Source__c":"C0268494","Xref__c":"MEDGEN:82809"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765146000","Source__c":"C0268494; MONDO:0018135","Xref__c":"765146000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268494","Source__c":"C0268494","Xref__c":"C0268494"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537728","Source__c":"MONDO:0018135","Xref__c":"C537728"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018135","Source__c":"GARD:0004037","Xref__c":"MONDO:0018135"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced pigmentation of hair diffusely.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011358","HPO_Name__c":"Generalized hypopigmentation of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A markedly blue coloration of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000635","HPO_Synonym__c":"Blue eyes","HPO_Name__c":"Blue irides","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025551","HPO_Synonym__c":"Optic pathway misrouting; Visual pathway misrouting","HPO_Name__c":"Optic nerve misrouting","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007730","HPO_Synonym__c":"Light eye color; Reduced iris pigmentation","HPO_Name__c":"Iris hypopigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007513","HPO_Synonym__c":"Fair skin; Pale pigmentation","HPO_Name__c":"Generalized hypopigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"White color (lack of pigmentation) of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002226","HPO_Synonym__c":"Depigmented eyebrow; Hypopigmented eyebrow; Pale eyebrow; White eyebrow","HPO_Name__c":"White eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000649","HPO_Synonym__c":"Abnormal vision evoked potentials; Abnormal visual evoked potential; Abnormal visual evoked responses; Abnormal visual-evoked potentials; VEP abnormalities","HPO_Name__c":"Abnormality of visual evoked potentials","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal anatomy of the choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025568","HPO_Name__c":"Abnormal morphology of the choroidal vasculature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025127","HPO_Synonym__c":"Solar keratosis","HPO_Name__c":"Actinic keratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the fovea centralis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007750","HPO_Synonym__c":"Foveal hypoplasia","HPO_Name__c":"Hypoplasia of the fovea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Laminar thickening of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001072","HPO_Synonym__c":"Pachydermia; Thick skin; Thickened skin","HPO_Name__c":"Thickened skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"White color (lack of pigmentation) of the eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002227","HPO_Synonym__c":"Blonde eyelashes; Depigmented eyelashes; Pale eyelashes; White eyelashes","HPO_Name__c":"White eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000646","HPO_Synonym__c":"Lazy eye; Wandering eye; Wandering eyes","HPO_Name__c":"Amblyopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012805","HPO_Name__c":"Iris transillumination defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Generalized or focal reduced pigmentation of the fundus, evaluated in the context of skin and hair color. Fundoscopy may reveal a low level pigment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007894","HPO_Synonym__c":"Decreased fundus pigmentation; Depigmented fundus; Hypopigmentation of the fundus","HPO_Name__c":"Fundus hypopigmentation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["albinism 1"," albinism i"," oca1"," tyr-gene related oculocutaneous albinism type 1"]}