{"Name":"Oculocutaneous albinism type 4","DiseaseID__c":"GARD:0016722","id":16722,"encodedName":"oculocutaneous-albinism-type-4","IsDeleted":false,"Disease_Name_Full__c":"Oculocutaneous albinism type 4","Xref_IDs__c":"715632003; C1847836; C564696; DOID:0070098; MEDGEN:338324; MONDO:0011683; NBK1510; OMIM:606574; ORPHA:79435","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011683","Disease_Description__c":"A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.","GARD_Name__c":"Oculocutaneous albinism type 4","GARD_Synonym__c":"albinism, oculocutaneous, type iv; oca4; oculocutaneous albinism caused by mutation in slc45a2; slc45a2 oculocutaneous albinism","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Oculocutaneous albinism type 4 is a condition that affects the color of a person's skin, hair, and eyes. This condition can cause the skin and hair to have less color than usual. It can also cause changes that affect the eyes. These changes may include misrouting of the optic nerves where they cross at the base of the brain.","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:79435","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011683","ORPHANET_ID__c":"ORPHA:79435","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Albinismo oculocutáneo tipo 4","Spanish_Description_Source__c":"ORPHA:79435","Spanish_Description__c":"Es una forma de albinismo oculocutáneo caracterizada por hipopigmentación de la piel y del cabello de grado variable, numerosas anomalías oculares y desviación de los nervios ópticos en el quiasma.","Spanish_Disease_Name__c":"albinismo oculocutáneo tipo 4","Spanish_GARD_Synonym__c":"oca-4","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 4 is a condition that affects the color of a person's skin, hair, and eyes. This condition can cause the skin and hair to have less color than usual. It can also cause changes that affect the eyes. These changes may include misrouting of the optic nerves where they cross at the base of the brain.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"albinism, oculocutaneous, type iv; oca4; oculocutaneous albinism caused by mutation in slc45a2; slc45a2 oculocutaneous albinism","Name":"Oculocutaneous albinism type 4","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The National Organization of Albinism and Hypopigmentation (NOAH)","Website__c":"https://www.albinism.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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79435"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79435"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1510","Source__c":"Gene Review","Xref__c":"NBK1510"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK590568","Xref__c":"NBK590568"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070098","Source__c":"MONDO:0011683","Xref__c":"DOID:0070098"},{"URL__c":"https://www.orpha.net/en/disease/detail/79435","Source__c":"C1847836; MONDO:0011683; ORPHA:79435","Xref__c":"ORPHA:79435"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1847836","Source__c":"C1847836","Xref__c":"C1847836"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564696","Source__c":"MONDO:0011683","Xref__c":"C564696"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338324","Source__c":"C1847836","Xref__c":"MEDGEN:338324"},{"URL__c":"https://www.omim.org/entry/606574","Source__c":"C1847836; MONDO:0011683; ORPHA:79435","Xref__c":"OMIM:606574"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715632003","Source__c":"C1847836; MONDO:0011683","Xref__c":"715632003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011683","Source__c":"GARD:0016722","Xref__c":"MONDO:0011683"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC45A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc45a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79435","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:79435","HPO_Frequency__c":"Very frequent (80-99%)","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:79435","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001107","HPO_Synonym__c":"Absent pigmentation in the eye; Albinism, Ocular","HPO_Name__c":"Ocular albinism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79435","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:79435","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:79435","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:79435","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:79435","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:79435","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:79435","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:79435","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003764","HPO_Synonym__c":"Mole; Naevus","HPO_Name__c":"Nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79435","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:79435","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001022","HPO_Synonym__c":"Achromasia; Albinism","HPO_Name__c":"Albinism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79435","HPO_Frequency__c":"Frequent (30-79%)","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:79435","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Dermatology","Neuro-Ophthalmology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["albinism, oculocutaneous, type iv"," oca4"," oculocutaneous albinism caused by mutation in slc45a2"," slc45a2 oculocutaneous albinism"]}