{"Name":"Isolated optic nerve hypoplasia","DiseaseID__c":"GARD:0008419","id":8419,"encodedName":"isolated-optic-nerve-hypoplasia","IsDeleted":false,"Disease_Name_Full__c":"Isolated optic nerve hypoplasia","Xref_IDs__c":"724999003; C101268; C1833797; DOID:0111531; MEDGEN:322281; MONDO:0008136; OMIM:165550; ORPHA:637061","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:137902","Disease_Description__c":"A rare genetic optic nerve disorder characterized by visual impairment or blindness resulting from varying degrees of underdevelopment of the optic nerve or even complete absence of the optic nerve, ganglion cells, and central retinal vessels. It may be unilateral, typically with otherwise normal brain development, or bilateral with accompanying severe and widespread congenital malformations of the central nervous system.","GARD_Name__c":"Isolated optic nerve hypoplasia","GARD_Synonym__c":"bilateral optic nerve hypoplasia; familial bilateral optic nerve hypoplasia; optic nerve hypoplasia; optic nerve hypoplasia, bilateral; optic nerve hypoplasia, familial bilateral","Curated_Disease_Description_Source__c":"ORPHA:137902","Curated_Disease_Description__c":"A rare developmental defect during embryogenesis characterized by underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the 'double-ring' sign, a ring of hypo- or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:137902","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008136","ORPHANET_ID__c":"ORPHA:637061","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipoplasia aislada del nervio óptico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipoplasia aislada del nervio óptico","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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 rare developmental defect during embryogenesis characterized by underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the 'double-ring' sign, a ring of hypo- or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected.","Curated_Disease_Description_Source__c":"ORPHA:137902","GARD_Synonym__c":"bilateral optic nerve hypoplasia; familial bilateral optic nerve hypoplasia; optic nerve hypoplasia; optic nerve hypoplasia, bilateral; optic nerve hypoplasia, familial bilateral","Name":"Isolated optic nerve hypoplasia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The MAGIC Foundation","Website__c":"https://www.magicfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1833797"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008419","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833797","Source__c":"C1833797","Xref__c":"C1833797"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111531","Source__c":"MONDO:0008136","Xref__c":"DOID:0111531"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322281","Source__c":"C1833797","Xref__c":"MEDGEN:322281"},{"URL__c":"https://www.orpha.net/en/disease/detail/637061","Source__c":"MONDO:0008136","Xref__c":"ORPHA:637061"},{"URL__c":"https://www.omim.org/entry/165550","Source__c":"C1833797; MONDO:0008136","Xref__c":"OMIM:165550"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724999003","Source__c":"MONDO:0008136","Xref__c":"724999003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008136","Source__c":"GARD:0008419","Xref__c":"MONDO:0008136"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C101268","Source__c":"C1833797","Xref__c":"C101268"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PAX6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pax6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:165550","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:165550","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025514","HPO_Synonym__c":"Morning glory disk anomaly; Morning glory optic disc","HPO_Name__c":"Morning glory anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:165550","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007968","HPO_Synonym__c":"Congenital retinal septum; Persistent fetal vasculature; Persistent hyperplasia of primary vitreous; Persistent hyperplastic primary vitreous; Persistent hypertrophic primary vitreous; Persistent posterior fetal fibrovascular sheath of the lens; Persistent tunica vasculosa lentis","HPO_Name__c":"Remnants of the hyaloid vascular system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:165550","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":"OMIM:165550","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000609","HPO_Synonym__c":"Hypoplastic optic nerves; Underdeveloped optic nerves","HPO_Name__c":"Optic nerve hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:165550","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Congenital absence of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012521","HPO_Synonym__c":"Absent optic nerve; Aplastic optic nerve","HPO_Name__c":"Optic nerve aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:165550","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"}}],"tags":{"Disease Category":["Cancer","Genetics","Congenital Abnormality"],"Cause":["Genetics"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology"]},"synonyms":["bilateral optic nerve hypoplasia"," familial bilateral optic nerve hypoplasia"," optic nerve hypoplasia"," optic nerve hypoplasia, bilateral"," optic nerve hypoplasia, familial bilateral"]}