{"Name":"Morning glory syndrome","DiseaseID__c":"GARD:0013354","id":13354,"encodedName":"morning-glory-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Morning glory syndrome","Xref_IDs__c":"C3554721; MEDGEN:767635; MONDO:0018169; ORPHA:35737","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018169","Disease_Description__c":"A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies.","GARD_Name__c":"Morning glory syndrome","GARD_Synonym__c":"ectasic coloboma; morning glory anomaly; morning glory disc anomaly; morning glory disk anomaly; morning glory optic disc; volubilis syndrome","Curated_Disease_Description_Source__c":"GARD:0013354","Curated_Disease_Description__c":"\"Morning glory syndrome (MGS) is a birth (congenital) defect of the nerve of the eye (optic nerve) that resembles a flower known as \"\"morning glory\"\". It is characterized by an enlarged, funnel-shaped cavity of the optic disc, the point in the eye where the optic nerve fibers leave the retina. The disc is enlarged and has a white center (giving the appearance of a white pupil). The blood vessels are increased in number and curve as they come from the enlarged disc that have the white center, resulting in this malformation to be similar to petals on a flower. Most reported cases are unilateral (affecting only one eye), sporadic (without other cases in the family), and occur in females. Symptoms include very poor vision in the affected eye with poor visual acuity. MGS may occur by itself or along with other eye abnormalities, such as crossed eyes (strabismus) or lazy eye (amblyopia), or other non-ocular problems like brain disorders. Typically, individuals with non-ocular findings also have a wide head, depressed nasal bridge, and mid upper lip defect or cleft. MGS seems to be caused from failure of the optic nerve to completely form when the baby is developing. The most severe complication is retinal detachment, and can occur in about 26-38% of people with MGS. The MGS is sometimes misdiagnosed as an optic nerve coloboma.\"","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:35737","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018169","ORPHANET_ID__c":"ORPHA:35737","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ''morning glory'''","Spanish_Description_Source__c":"ORPHA:35737","Spanish_Description__c":"Es una anomalía congénita del disco óptico caracterizada por una excavación en forma de embudo en el polo posterior del disco óptico. Clínicamente, la malformación del disco óptico se asemeja a la flor <i>morning glory</i>, nombre en inglés de la flor de enredadera. La anomalía del disco óptico <i>morning glory</i> (MGDA, por sus siglas en inglés) suele ser unilateral y resulta frecuentemente en una disminución de la agudeza visual mejor corregida (AVMC). El MGDA puede presentarse aislado o asociado a otras anomalías tanto oculares como no oculares.","Spanish_Disease_Name__c":"síndrome de ''morning glory'''","Spanish_GARD_Synonym__c":"coloboma ectásico; síndrome de la flor de enredadera","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":"\"Morning glory syndrome (MGS) is a birth (congenital) defect of the nerve of the eye (optic nerve) that resembles a flower known as \"\"morning glory\"\". It is characterized by an enlarged, funnel-shaped cavity of the optic disc, the point in the eye where the optic nerve fibers leave the retina. The disc is enlarged and has a white center (giving the appearance of a white pupil). The blood vessels are increased in number and curve as they come from the enlarged disc that have the white center, resulting in this malformation to be similar to petals on a flower. Most reported cases are unilateral (affecting only one eye), sporadic (without other cases in the family), and occur in females. Symptoms include very poor vision in the affected eye with poor visual acuity. MGS may occur by itself or along with other eye abnormalities, such as crossed eyes (strabismus) or lazy eye (amblyopia), or other non-ocular problems like brain disorders. Typically, individuals with non-ocular findings also have a wide head, depressed nasal bridge, and mid upper lip defect or cleft. MGS seems to be caused from failure of the optic nerve to completely form when the baby is developing. The most severe complication is retinal detachment, and can occur in about 26-38% of people with MGS. The MGS is sometimes misdiagnosed as an optic nerve coloboma.\"","Curated_Disease_Description_Source__c":"GARD:0013354","GARD_Synonym__c":"ectasic coloboma; morning glory anomaly; morning glory disc anomaly; morning glory disk anomaly; morning glory optic disc; volubilis syndrome","Name":"Morning glory syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"}],"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":"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:35737"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013354","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3554721","Source__c":"C3554721","Xref__c":"C3554721"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=767635","Source__c":"C3554721","Xref__c":"MEDGEN:767635"},{"URL__c":"https://www.orpha.net/en/disease/detail/35737","Source__c":"C3554721; MONDO:0018169; ORPHA:35737","Xref__c":"ORPHA:35737"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018169","Source__c":"GARD:0013354","Xref__c":"MONDO:0018169"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0025514","Source__c":"C3554721","Xref__c":"HP:0025514"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:35737","HPO_Frequency__c":"Occasional (5-29%)","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:35737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35737","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000646","HPO_Synonym__c":"Lazy eye; Wandering eye; Wandering eyes","HPO_Name__c":"Amblyopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35737","HPO_Frequency__c":"Very frequent (80-99%)","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:35737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cleft of the optic nerve that extends inferiorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000588","HPO_Synonym__c":"Coloboma of optic nerve; Optic disc coloboma; Optic nerve coloboma","HPO_Name__c":"Optic disc coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35737","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["ectasic coloboma"," morning glory anomaly"," morning glory disc anomaly"," morning glory disk anomaly"," morning glory optic disc"," volubilis syndrome"],"spanishId":13357,"spanishName":"sindrome-morning-glory"}