{"Name":"Snowflake vitreoretinal degeneration","DiseaseID__c":"GARD:0009706","id":9706,"encodedName":"snowflake-vitreoretinal-degeneration","IsDeleted":false,"Disease_Name_Full__c":"Snowflake vitreoretinal degeneration","Xref_IDs__c":"C1860405; C536677; DOID:0111570; HP:0011533; MEDGEN:395476; MONDO:0008663; OMIM:193230; ORPHA:91496","USA_Estimate__c":"1,000","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":"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":"MONDO:0008663","Disease_Description__c":"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.","GARD_Name__c":"Snowflake vitreoretinal degeneration","GARD_Synonym__c":"snowflake retinal degeneration; svd","Curated_Disease_Description_Source__c":"MONDO:0008663","Curated_Disease_Description__c":"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:91496","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008663","ORPHANET_ID__c":"ORPHA:91496","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Degeneración vitreorretiniana tipo copo de nieve","Spanish_Description_Source__c":"ORPHA:91496","Spanish_Description__c":"Es un trastorno caracterizado por la presencia de pequeños depósitos granulares en la retina que se asemejan a copos de nieve, degeneración vítrea fibrilar y cataratas. Se desconoce la prevalencia, pero el trastorno se ha descrito en varias familias. La transmisión es autosómica dominante y el gen causante se ha localizado en una pequeña región del cromosoma 2q36.","Spanish_Disease_Name__c":"degeneración vitreorretiniana tipo copo de nieve","Spanish_GARD_Synonym__c":null,"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":"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.","Curated_Disease_Description_Source__c":"MONDO:0008663","GARD_Synonym__c":"snowflake retinal degeneration; svd","Name":"Snowflake vitreoretinal degeneration","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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:91496"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1860405"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009706","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395476","Source__c":"C1860405","Xref__c":"MEDGEN:395476"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536677","Source__c":"MONDO:0008663","Xref__c":"C536677"},{"URL__c":"https://www.omim.org/entry/193230","Source__c":"C1860405; MONDO:0008663; ORPHA:91496","Xref__c":"OMIM:193230"},{"URL__c":"https://www.orpha.net/en/disease/detail/91496","Source__c":"C1860405; MONDO:0008663; ORPHA:91496","Xref__c":"ORPHA:91496"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860405","Source__c":"C1860405","Xref__c":"C1860405"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111570","Source__c":"MONDO:0008663","Xref__c":"DOID:0111570"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011533","Source__c":"C1860405","Xref__c":"HP:0011533"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008663","Source__c":"GARD:0009706","Xref__c":"MONDO:0008663"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNJ13","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:193230","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:193230","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:193230","Feature__r":{"HPO_Description__c":"Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032027","HPO_Name__c":"Retinal dots","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193230","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":"OMIM:193230","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012038","HPO_Synonym__c":"Corneal endothelial guttata; Corneal guttae","HPO_Name__c":"Corneal guttata","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011533","HPO_Synonym__c":"Snowflake retinal degeneration","HPO_Name__c":"Snowflake vitreoretinal degeneration","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":["snowflake retinal degeneration"," svd"]}