{"Name":"Wagner disease","DiseaseID__c":"GARD:0007871","id":7871,"encodedName":"wagner-disease","IsDeleted":false,"Disease_Name_Full__c":"Wagner disease","Xref_IDs__c":"232064001; C1840452; C536075; MEDGEN:326741; MONDO:0007740; OMIM:143200; ORPHA:898","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007740","Disease_Description__c":"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.","GARD_Name__c":"Wagner disease","GARD_Synonym__c":"dominant hyaloideoretinal dystrophy of wagner; erosive vitreoretinopathy; hyaloideoretinal degeneration of wagner; vcan-related vitreoretinopathy; vitreoretinal degeneration, wagner type; wagner syndrome; wagner syndrome 1; wagner vitreoretinal degeneration; wagner vitreoretinopathy","Curated_Disease_Description_Source__c":"GARD:0007871","Curated_Disease_Description__c":"Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent. In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina) becomes thin and may separate from the back of the eye (retinal detachment). The blood vessels within the retina (known as the choroid) may also be abnormal. The retina and the choroid progressively break down (degenerate). Some people with Wagner syndrome have blurred vision because of ectopic fovea, an abnormality in which the part of the retina responsible for sharp central vision is out of place. Additionally, the thick, clear gel that fills the eyeball (the vitreous) becomes watery and thin. People with Wagner syndrome develop a clouding of the lens of the eye (cataract). Affected individuals may also experience nearsightedness (myopia), progressive night blindness, or a narrowing of their field of vision. Vision impairment in people with Wagner syndrome can vary from near normal vision to complete loss of vision in both eyes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:898","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007740","ORPHANET_ID__c":"ORPHA:898","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de wagner","Spanish_Description_Source__c":"ORPHA:898","Spanish_Description__c":"Es una vitreorretinopatía hereditaria poco frecuente caracterizada por un vítreo anómalo asociado a miopía, cataratas, atrofia coriorretiniana y desprendimiento de retina periférico traccional o regmatógeno.","Spanish_Disease_Name__c":"enfermedad de wagner","Spanish_GARD_Synonym__c":"degeneración vitreorretiniana de wagner; distrofia dominante hialoideo-retiniana de wagner; síndrome de wagner; vitreorretinopatía asociada a vcan","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":"Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent. In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina) becomes thin and may separate from the back of the eye (retinal detachment). The blood vessels within the retina (known as the choroid) may also be abnormal. The retina and the choroid progressively break down (degenerate). Some people with Wagner syndrome have blurred vision because of ectopic fovea, an abnormality in which the part of the retina responsible for sharp central vision is out of place. Additionally, the thick, clear gel that fills the eyeball (the vitreous) becomes watery and thin. People with Wagner syndrome develop a clouding of the lens of the eye (cataract). Affected individuals may also experience nearsightedness (myopia), progressive night blindness, or a narrowing of their field of vision. Vision impairment in people with Wagner syndrome can vary from near normal vision to complete loss of vision in both eyes.","Curated_Disease_Description_Source__c":"GARD:0007871","GARD_Synonym__c":"dominant hyaloideoretinal dystrophy of wagner; erosive vitreoretinopathy; hyaloideoretinal degeneration of wagner; vcan-related vitreoretinopathy; vitreoretinal degeneration, wagner type; wagner syndrome; wagner syndrome 1; wagner vitreoretinal degeneration; wagner vitreoretinopathy","Name":"Wagner disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:898"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1840452"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007871","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK3821","Xref__c":"NBK3821"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=232064001","Source__c":"C1840452; MONDO:0007740","Xref__c":"232064001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536075","Source__c":"MONDO:0007740","Xref__c":"C536075"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1840452","Source__c":"C1840452","Xref__c":"C1840452"},{"URL__c":"https://www.orpha.net/en/disease/detail/898","Source__c":"C1840452; MONDO:0007740; ORPHA:898","Xref__c":"ORPHA:898"},{"URL__c":"https://www.omim.org/entry/143200","Source__c":"C1840452; MONDO:0007740; ORPHA:898","Xref__c":"OMIM:143200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=326741","Source__c":"C1840452","Xref__c":"MEDGEN:326741"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007740","Source__c":"GARD:0007871","Xref__c":"MONDO:0007740"},{"URL__c":"https://medlineplus.gov/genetics/condition/wagner-syndrome","Source__c":"GARD:0007871","Xref__c":"https://medlineplus.gov/genetics/condition/wagner-syndrome"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030673","Source__c":"C1840452","Xref__c":"HP:0030673"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"VCAN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/vcan","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:898","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting) of the choroid and retinal layers of the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000533","HPO_Synonym__c":"Chorioretinal degeneration; Chorioretinal thinning","HPO_Name__c":"Chorioretinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:898","HPO_Frequency__c":"Frequent (30-79%)","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:898","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:898","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernible gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030663","HPO_Name__c":"Optically empty vitreous","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:898","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:898","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:898","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal anatomic position of the fovea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025007","HPO_Name__c":"Ectopic fovea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:898","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly observed by full-field electroretinogram (ffERG). The ffERG measures the light-induced electrical activity of the retina at the corneal surface. Specifically, the ffERG records the global or total retinal electrical response to a full-field (Ganzfield) light stimulus. Isolation of the rod and cone components has important diagnostic value in differentiating between various retinal diseases. Modifying the properties of the light-stimulus (wavelength, strength, and flicker rate) as well as the adaptive state of the retina can separate the rod and cone functions of the ffERG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030466","HPO_Name__c":"Abnormal full-field electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:898","HPO_Frequency__c":"Frequent (30-79%)","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:898","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000580","HPO_Synonym__c":"Pigmentary retinal deposits; Retinal pigment clumping; Retinal pigmentary clumping; Retinal pigmentary degeneration","HPO_Name__c":"Pigmentary retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:898","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012122","HPO_Name__c":"Anterior uveitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:898","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:898","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007819","HPO_Synonym__c":"Presenile cataract","HPO_Name__c":"Presenile cataracts","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["dominant hyaloideoretinal dystrophy of wagner"," erosive vitreoretinopathy"," hyaloideoretinal degeneration of wagner"," vcan-related vitreoretinopathy"," vitreoretinal degeneration, wagner type"," wagner syndrome"," wagner syndrome 1"," wagner vitreoretinal degeneration"," wagner vitreoretinopathy"]}