{"Name":"Ocular albinism with late-onset sensorineural deafness","DiseaseID__c":"GARD:0000592","id":592,"encodedName":"ocular-albinism-with-late-onset-sensorineural-deafness","IsDeleted":false,"Disease_Name_Full__c":"Ocular albinism with late-onset sensorineural deafness","Xref_IDs__c":"722054007; C1845069; MEDGEN:337149; MONDO:0010390; OMIM:300650; ORPHA:1000","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010390","Disease_Description__c":"Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.","GARD_Name__c":"Ocular albinism with late-onset sensorineural deafness","GARD_Synonym__c":"ocular albinism with late-onset sensorineural hearing loss","Curated_Disease_Description_Source__c":"MONDO:0010390","Curated_Disease_Description__c":"Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:1000","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010390","ORPHANET_ID__c":"ORPHA:1000","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Albinismo ocular con sordera neurosensorial tardía","Spanish_Description_Source__c":"ORPHA:1000","Spanish_Description__c":"El albinismo ocular con sordera neurosensorial tardía es un subtipo de albinismo ocular hereditario ligado al cromosoma X, poco frecuente, caracterizado por deficiencia visual grave, iris translúcidos azul pálido, reducción del pigmento retiniano y sordera moderadamente grave con un inicio que va desde la adolescencia hasta la cuarto o quinta década de la vida.","Spanish_Disease_Name__c":"albinismo ocular con sordera neurosensorial tardía","Spanish_GARD_Synonym__c":"albinismo ocular con hipoacusia neurosensorial tardía","Category_Linearization__c":"ORPHA:97966","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":"Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.","Curated_Disease_Description_Source__c":"MONDO:0010390","GARD_Synonym__c":"ocular albinism with late-onset sensorineural hearing loss","Name":"Ocular albinism with late-onset sensorineural deafness","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/"},{"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":"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1000"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1845069"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000592","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722054007","Source__c":"C1845069; MONDO:0010390","Xref__c":"722054007"},{"URL__c":"https://www.orpha.net/en/disease/detail/1000","Source__c":"C1845069; MONDO:0010390; ORPHA:1000","Xref__c":"ORPHA:1000"},{"URL__c":"https://www.omim.org/entry/300650","Source__c":"C1845069; MONDO:0010390; ORPHA:1000","Xref__c":"OMIM:300650"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337149","Source__c":"C1845069","Xref__c":"MEDGEN:337149"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845069","Source__c":"C1845069","Xref__c":"C1845069"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010390","Source__c":"GARD:0000592","Xref__c":"MONDO:0010390"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1000","HPO_Frequency__c":"Very frequent (80-99%)","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:1000","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:1000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1000","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:1000","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Otolaryngology"]},"synonyms":["ocular albinism with late-onset sensorineural hearing loss"]}