{"Name":"Tyrosinase-positive oculocutaneous albinism","DiseaseID__c":"GARD:0004038","id":4038,"encodedName":"tyrosinase-positive-oculocutaneous-albinism","IsDeleted":false,"Disease_Name_Full__c":"Tyrosinase-positive oculocutaneous albinism","Xref_IDs__c":"26336006; C0268495; C537730; DOID:0070096; MEDGEN:82810; MONDO:0008746; OMIM:203200; ORPHA:79432","USA_Estimate__c":"200,000","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":"5,000,000 to 7,000,000","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:0008746","Disease_Description__c":"A form of oculocutaneous albinism characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.","GARD_Name__c":"Tyrosinase-positive oculocutaneous albinism","GARD_Synonym__c":"albinism ii; albinism, oculocutaneous, type ii; albinism, oculocutaneous, type ii, modifier of; albinoidism; oca2; oca2 - tyrosinase-positive oculocutaneous albinism; oculocutaneous albinism type 2; oculocutaneous albinism, tyrosinase-positive","Curated_Disease_Description_Source__c":"GARD:0004038","Curated_Disease_Description__c":"Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. This condition also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; nystagmus and strabismus; and increased sensitivity to light (photophobia). This condition is caused by genetic changes in the OCA2 gene and is inherited in an autosomal recessive fashion.","Curated_USA_Estimate_Source__c":"Orphanet US Estimate","Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79432","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008746","ORPHANET_ID__c":"ORPHA:79432","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Albinismo oculocutáneo tipo 2","Spanish_Description_Source__c":"ORPHA:79432","Spanish_Description__c":"Es una forma de albinismo oculocutáneo caracterizada por hipopigmentación variable de la piel y del cabello, numerosos cambios oculares característicos y desviación del nervio óptico en el quiasma.","Spanish_Disease_Name__c":"albinismo oculocutáneo tipo 2","Spanish_GARD_Synonym__c":"oca2","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 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. This condition also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; nystagmus and strabismus; and increased sensitivity to light (photophobia). This condition is caused by genetic changes in the OCA2 gene and is inherited in an autosomal recessive fashion.","Curated_Disease_Description_Source__c":"GARD:0004038","GARD_Synonym__c":"albinism ii; albinism, oculocutaneous, type ii; albinism, oculocutaneous, type ii, modifier of; albinoidism; oca2; oca2 - tyrosinase-positive oculocutaneous albinism; oculocutaneous albinism type 2; oculocutaneous albinism, tyrosinase-positive","Name":"Tyrosinase-positive oculocutaneous albinism","Curated_USA_Estimate__c":"50,000","Curated_USA_Estimate_Source__c":"Orphanet US Estimate","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:79432"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79432"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268495"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004038","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK590568","Source__c":"Gene Review","Xref__c":"NBK590568"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268495","Source__c":"C0268495","Xref__c":"C0268495"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070096","Source__c":"MONDO:0008746","Xref__c":"DOID:0070096"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537730","Source__c":"MONDO:0008746","Xref__c":"C537730"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82810","Source__c":"C0268495","Xref__c":"MEDGEN:82810"},{"URL__c":"https://www.omim.org/entry/203200","Source__c":"C0268495; MONDO:0008746; ORPHA:79432","Xref__c":"OMIM:203200"},{"URL__c":"https://www.orpha.net/en/disease/detail/79432","Source__c":"C0268495; MONDO:0008746; ORPHA:79432","Xref__c":"ORPHA:79432"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008746","Source__c":"GARD:0004038","Xref__c":"MONDO:0008746"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=26336006","Source__c":"C0268495","Xref__c":"26336006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"OCA2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/oca2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006739","HPO_Synonym__c":"Squamous skin carcinoma","HPO_Name__c":"Squamous cell carcinoma of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypopigmented hair that appears white.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011364","HPO_Synonym__c":"White hair","HPO_Name__c":"White hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Frequent (30-79%)","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:79432","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:79432","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005599","HPO_Synonym__c":"Hair hypopigmentation; Loss of hair color","HPO_Name__c":"Hypopigmentation of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000539","HPO_Name__c":"Abnormality of refraction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Frequent (30-79%)","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:79432","HPO_Frequency__c":"Frequent (30-79%)","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:79432","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a melanoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012056","HPO_Name__c":"Cutaneous melanoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Frequent (30-79%)","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:79432","HPO_Frequency__c":"Frequent (30-79%)","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:79432","HPO_Frequency__c":"Frequent (30-79%)","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:79432","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased amount of pigmentation in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007988","HPO_Synonym__c":"Macular depigmentation","HPO_Name__c":"Macular hypopigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a basal cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002671","HPO_Synonym__c":"Basal cell carcinomas; Basal cell epithelioma; Basal cell nevus; Basalioma","HPO_Name__c":"Basal cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Frequent (30-79%)","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:79432","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007481","HPO_Name__c":"Hyperpigmented nevi","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Frequent (30-79%)","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:79432","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of skin pigmentation (coloring).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200098","HPO_Synonym__c":"Absent skin pigmentation; Lack of skin coloration","HPO_Name__c":"Absent skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001100","HPO_Synonym__c":"Different colored eyes; Heterochromia irides","HPO_Name__c":"Heterochromia iridis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001480","HPO_Synonym__c":"Freckling","HPO_Name__c":"Freckling","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of skin color related to a decrease in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001010","HPO_Synonym__c":"Hypopigmentation; Hypopigmented skin; Patchy lightened skin","HPO_Name__c":"Hypopigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030856","HPO_Name__c":"Posterior staphyloma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79432","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["albinism ii"," albinism, oculocutaneous, type ii"," albinism, oculocutaneous, type ii, modifier of"," albinoidism"," oca2"," oca2 - tyrosinase-positive oculocutaneous albinism"," oculocutaneous albinism type 2"," oculocutaneous albinism, tyrosinase-positive"]}