{"Name":"Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome","DiseaseID__c":"GARD:0017632","id":17632,"encodedName":"foveal-hypoplasia-optic-nerve-decussation-defect-anterior-segment-dysgenesis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome","Xref_IDs__c":"C3807873; C563774; DOID:0070531; MEDGEN:814203; MONDO:0012216; OMIM:609218; ORPHA:397618","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:397618","Disease_Description__c":"Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome is a rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.","GARD_Name__c":"Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome","GARD_Synonym__c":"fhonda syndrome; foveal hypoplasia 2; foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism; foveal hypoplasia 2 with or without microphthalmia or coloboma; foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis; foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis; foveal hypoplasia type 2; foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome","Curated_Disease_Description_Source__c":"ORPHA:397618","Curated_Disease_Description__c":"A rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:397618","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012216","ORPHANET_ID__c":"ORPHA:397618","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipoplasia foveal-defecto de decusación del nervio óptico-disgenesia del segmento anterior","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hipoplasia foveal-defecto de decusación del nervio óptico-disgenesia del segmento anterior","Spanish_GARD_Synonym__c":"síndrome fhonda","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":"A rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.","Curated_Disease_Description_Source__c":"ORPHA:397618","GARD_Synonym__c":"fhonda syndrome; foveal hypoplasia 2; foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism; foveal hypoplasia 2 with or without microphthalmia or coloboma; foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis; foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis; foveal hypoplasia type 2; foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome","Name":"Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:397618"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/397618","Source__c":"C3807873; MONDO:0012216","Xref__c":"ORPHA:397618"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3807873","Source__c":"C3807873","Xref__c":"C3807873"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=814203","Source__c":"C3807873","Xref__c":"MEDGEN:814203"},{"URL__c":"https://www.omim.org/entry/609218","Source__c":"C3807873; MONDO:0012216; ORPHA:397618","Xref__c":"OMIM:609218"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070531","Source__c":"MONDO:0012216","Xref__c":"DOID:0070531"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563774","Source__c":"MONDO:0012216","Xref__c":"C563774"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012216","Source__c":"GARD:0017632","Xref__c":"MONDO:0012216"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC38A8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609218","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":"OMIM:609218","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:609218","Feature__r":{"HPO_Description__c":"Increased amount of pigmentation in the fovea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008001","HPO_Name__c":"Foveal hyperpigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609218","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":"OMIM:609218","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:609218","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001492","HPO_Name__c":"Axenfeld anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609218","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":"OMIM:609218","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609218","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Esotropia in which either eye may be used for fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001137","HPO_Synonym__c":"Alternating cross eyes","HPO_Name__c":"Alternating esotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609218","Feature__r":{"HPO_Description__c":"Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025551","HPO_Synonym__c":"Optic pathway misrouting; Visual pathway misrouting","HPO_Name__c":"Optic nerve misrouting","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609218","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000627","HPO_Synonym__c":"Embryotoxon","HPO_Name__c":"Posterior embryotoxon","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["fhonda syndrome"," foveal hypoplasia 2"," foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism"," foveal hypoplasia 2 with or without microphthalmia or coloboma"," foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis"," foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis"," foveal hypoplasia type 2"," foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome"]}