{"Name":"Ocular albinism, type I","DiseaseID__c":"GARD:0008471","id":8471,"encodedName":"ocular-albinism-type-i","IsDeleted":false,"Disease_Name_Full__c":"Ocular albinism, type I","Xref_IDs__c":"78642008; C0342684; C118785; C537863; MEDGEN:90991; MONDO:0021019; OMIM:300500; ORPHA:54","USA_Estimate__c":"5,000","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":"8,000 to 80,000","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":2,"Description_Source__c":"MONDO:0021019","Disease_Description__c":"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.","GARD_Name__c":"Ocular albinism, type I","GARD_Synonym__c":"nettleship-falls syndrome; nettleship-falls type ocular albinism; oa1; oa1 - x-linked ocular albinism; ocular albinism type 1; ocular albinism, nettleship-falls type; ocular albinism, type i, nettleship-falls type; x linked ocular albinism; x-linked ocular albinism; x-linked ocular albinism, nettleship type; x-linked recessive ocular albinism; xloa","Curated_Disease_Description_Source__c":"GARD:0008471","Curated_Disease_Description__c":"X-linked recessive ocular albinism is a genetic eye condition that primarily affects males. Signs and symptoms may include reduced coloring of the iris and retina (ocular hypopigmentation); foveal hypoplasia (underdevelopment); rapid, involuntary eye movements (nystagmus); poor vision; poor depth perception; eyes that do not look in the same direction (strabismus); and increased sensitivity to light. It is caused by genetic changes in the GPR143 gene and is inherited in an X-linked recessive manner. Females have been affected in rare instances.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:54","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0021019","ORPHANET_ID__c":"ORPHA:54","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Albinismo ocular recesivo ligado al cromosoma x","Spanish_Description_Source__c":"ORPHA:54","Spanish_Description__c":"El albinismo ocular recesivo ligado al X (XLOA) es un trastorno poco frecuente caracterizado por hipopigmentación ocular, hipoplasia foveal, nistagmo, fotodisforia, y agudeza visual reducida en varones.","Spanish_Disease_Name__c":"albinismo ocular recesivo ligado al cromosoma x","Spanish_GARD_Synonym__c":"albinismo ocular tipo 1; albinismo ocular tipo nettleship-falls; oa1; xloa","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":"X-linked recessive ocular albinism is a genetic eye condition that primarily affects males. Signs and symptoms may include reduced coloring of the iris and retina (ocular hypopigmentation); foveal hypoplasia (underdevelopment); rapid, involuntary eye movements (nystagmus); poor vision; poor depth perception; eyes that do not look in the same direction (strabismus); and increased sensitivity to light. It is caused by genetic changes in the GPR143 gene and is inherited in an X-linked recessive manner. Females have been affected in rare instances.","Curated_Disease_Description_Source__c":"GARD:0008471","GARD_Synonym__c":"nettleship-falls syndrome; nettleship-falls type ocular albinism; oa1; oa1 - x-linked ocular albinism; ocular albinism type 1; ocular albinism, nettleship-falls type; ocular albinism, type i, nettleship-falls type; x linked ocular albinism; x-linked ocular albinism; x-linked ocular albinism, nettleship type; x-linked recessive ocular albinism; xloa","Name":"Ocular albinism, type I","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"},{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:54"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:54"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0342684"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008471","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK590568","Source__c":"Gene Review","Xref__c":"NBK590568"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=78642008","Source__c":"C0342684; MONDO:0021019","Xref__c":"78642008"},{"URL__c":"https://www.omim.org/entry/300500","Source__c":"C0342684; MONDO:0021019; ORPHA:54","Xref__c":"OMIM:300500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90991","Source__c":"C0342684","Xref__c":"MEDGEN:90991"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537863","Source__c":"MONDO:0021019","Xref__c":"C537863"},{"URL__c":"https://www.orpha.net/en/disease/detail/54","Source__c":"C0342684; MONDO:0021019; ORPHA:54","Xref__c":"ORPHA:54"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342684","Source__c":"C0342684","Xref__c":"C0342684"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C118785","Source__c":"C0342684; MONDO:0021019","Xref__c":"C118785"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0021019","Source__c":"GARD:0008471","Xref__c":"MONDO:0021019"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GPR143","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gpr143","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:54","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"}},{"Provided_By__c":"ORPHA:54","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54","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:54","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:54","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:54","HPO_Frequency__c":"Occasional (5-29%)","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:54","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:54","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000483","HPO_Synonym__c":"Abnormal curving of the cornea or lens of the eye; Astigmatism","HPO_Name__c":"Astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54","HPO_Frequency__c":"Occasional (5-29%)","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:54","HPO_Frequency__c":"Very frequent (80-99%)","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:54","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the macula, a region that, in a clinical context, is typically used to describe the central part of the retina within the vascular arcades.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001103","HPO_Synonym__c":"Abnormality of the macula; Macula abnormality; Macular abnormality","HPO_Name__c":"Abnormal macular morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54","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:54","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005592","HPO_Synonym__c":"Macromelanosomes","HPO_Name__c":"Giant melanosomes in melanocytes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000615","HPO_Synonym__c":"Abnormal pupillary morphology; Abnormality of the pupil; Pupillary abnormalities; Pupillary abnormality","HPO_Name__c":"Abnormal pupil morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["nettleship-falls syndrome"," nettleship-falls type ocular albinism"," oa1"," oa1 - x-linked ocular albinism"," ocular albinism type 1"," ocular albinism, nettleship-falls type"," ocular albinism, type i, nettleship-falls type"," x linked ocular albinism"," x-linked ocular albinism"," x-linked ocular albinism, nettleship type"," x-linked recessive ocular albinism"," xloa"]}