{"Name":"Oculocutaneous albinism type 5","DiseaseID__c":"GARD:0017598","id":17598,"encodedName":"oculocutaneous-albinism-type-5","IsDeleted":false,"Disease_Name_Full__c":"Oculocutaneous albinism type 5","Xref_IDs__c":"722057000; C3888401; DOID:0070099; MEDGEN:854888; MONDO:0014127; OMIM:615312; ORPHA:370091","USA_Estimate__c":"1,000","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":"1 to 8,000","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:0014127","Disease_Description__c":"A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.","GARD_Name__c":"Oculocutaneous albinism type 5","GARD_Synonym__c":"albinism, oculocutaneous, type v; oca5","Curated_Disease_Description_Source__c":"ORPHA:370091","Curated_Disease_Description__c":"A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:370091","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014127","ORPHANET_ID__c":"ORPHA:370091","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Albinismo oculocutáneo tipo 5","Spanish_Description_Source__c":"ORPHA:370091","Spanish_Description__c":"Es una forma de albinismo oculocutáneo caracterizado por piel clara, cabello dorado, fotofobia, nistagmo, hipoplasia foveal y alteración de la agudeza visual, que afecta a ambos sexos por igual. Sólo se ha descrito en una familia paquistaní consanguínea. Aún no se ha identificado el gen responsable.","Spanish_Disease_Name__c":"albinismo oculocutáneo tipo 5","Spanish_GARD_Synonym__c":"oca5","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":"A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally.","Curated_Disease_Description_Source__c":"ORPHA:370091","GARD_Synonym__c":"albinism, oculocutaneous, type v; oca5","Name":"Oculocutaneous albinism type 5","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:370091"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:370091"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/615312","Source__c":"C3888401; MONDO:0014127; ORPHA:370091","Xref__c":"OMIM:615312"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070099","Source__c":"MONDO:0014127","Xref__c":"DOID:0070099"},{"URL__c":"https://www.orpha.net/en/disease/detail/370091","Source__c":"C3888401; MONDO:0014127; ORPHA:370091","Xref__c":"ORPHA:370091"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722057000","Source__c":"C3888401; MONDO:0014127","Xref__c":"722057000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3888401","Source__c":"C3888401","Xref__c":"C3888401"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=854888","Source__c":"C3888401","Xref__c":"MEDGEN:854888"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014127","Source__c":"GARD:0017598","Xref__c":"MONDO:0014127"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:370091","HPO_Frequency__c":"Always (100%)","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:370091","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370091","HPO_Frequency__c":"Always (100%)","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:370091","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the fundus of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001098","HPO_Synonym__c":"Abnormality of the fundus","HPO_Name__c":"Abnormal fundus morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370091","HPO_Frequency__c":"Always (100%)","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:370091","HPO_Frequency__c":"Always (100%)","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:370091","HPO_Frequency__c":"Always (100%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["albinism, oculocutaneous, type v"," oca5"]}