{"Name":"Oculocutaneous albinism type 7","DiseaseID__c":"GARD:0017531","id":17531,"encodedName":"oculocutaneous-albinism-type-7","IsDeleted":false,"Disease_Name_Full__c":"Oculocutaneous albinism type 7","Xref_IDs__c":"722059002; C3808786; DOID:0070100; MEDGEN:815116; MONDO:0014070; OMIM:615179; ORPHA:352745","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014070","Disease_Description__c":"A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.","GARD_Name__c":"Oculocutaneous albinism type 7","GARD_Synonym__c":"albinism, oculocutaneous, type vii; lrmda oculocutaneous albinism; oca7; oculocutaneous albinism caused by mutation in lrmda","Curated_Disease_Description_Source__c":"MONDO:0014070","Curated_Disease_Description__c":"A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:352745","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014070","ORPHANET_ID__c":"ORPHA:352745","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Albinismo oculocutáneo tipo 7","Spanish_Description_Source__c":"ORPHA:352745","Spanish_Description__c":"Es una forma de albinismo oculocutáneo (OCA) caracterizado por hipopigmentación de la piel y del cabello (rubio claro a marrón oscuro), nistagmo, transiluminación del iris, agudeza visual variable entre 6/9 y 3/60 e hipopigmentación de la periferia del fondo de ojo. La fotofobia no constituye un hallazgo principal.","Spanish_Disease_Name__c":"albinismo oculocutáneo tipo 7","Spanish_GARD_Synonym__c":"oca7","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 (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.","Curated_Disease_Description_Source__c":"MONDO:0014070","GARD_Synonym__c":"albinism, oculocutaneous, type vii; lrmda oculocutaneous albinism; oca7; oculocutaneous albinism caused by mutation in lrmda","Name":"Oculocutaneous albinism type 7","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":"Neonatal","Provided_By__c":"ORPHA:352745"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK590568","Source__c":"Gene Review","Xref__c":"NBK590568"},{"URL__c":"https://www.orpha.net/en/disease/detail/352745","Source__c":"C3808786; MONDO:0014070; ORPHA:352745","Xref__c":"ORPHA:352745"},{"URL__c":"https://www.omim.org/entry/615179","Source__c":"C3808786; MONDO:0014070; ORPHA:352745","Xref__c":"OMIM:615179"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070100","Source__c":"MONDO:0014070","Xref__c":"DOID:0070100"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722059002","Source__c":"C3808786; MONDO:0014070","Xref__c":"722059002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=815116","Source__c":"C3808786","Xref__c":"MEDGEN:815116"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3808786","Source__c":"C3808786","Xref__c":"C3808786"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014070","Source__c":"GARD:0017531","Xref__c":"MONDO:0014070"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LRMDA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615179","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":"OMIM:615179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes deviated outward.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000577","HPO_Synonym__c":"Outward facing eye ball","HPO_Name__c":"Exotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615179","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":"OMIM:615179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000565","HPO_Synonym__c":"Inward turning cross eyed","HPO_Name__c":"Esotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615179","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":"OMIM:615179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe form of hypermetropia with over +5.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008499","HPO_Synonym__c":"High hyperopia; High-grade hypermetropia; Severe farsightedness; Severe long-sightedness","HPO_Name__c":"High hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615179","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":"OMIM:615179","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"}}],"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 vii"," lrmda oculocutaneous albinism"," oca7"," oculocutaneous albinism caused by mutation in lrmda"]}