{"Name":"Gelatinous droplike corneal dystrophy","DiseaseID__c":"GARD:0009647","id":9647,"encodedName":"gelatinous-droplike-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Gelatinous droplike corneal dystrophy","Xref_IDs__c":"419900000; C0339273; C142805; C535480; DOID:0060449; MEDGEN:90939; MONDO:0008777; OMIM:204870; ORPHA:98957","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008777","Disease_Description__c":"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.","GARD_Name__c":"Gelatinous droplike corneal dystrophy","GARD_Synonym__c":"amyloid corneal dystrophy, japanese type; corneal amyloidosis; corneal dystrophy, gelatinous drop-like; gdcd; gdld; gelatinous drop-like corneal dystrophy; lattice corneal dystrophy type iii; primary familial amyloidosis of the cornea; subepithelial amyloidosis of the cornea","Curated_Disease_Description_Source__c":"MONDO:0008777","Curated_Disease_Description__c":"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:98957","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008777","ORPHANET_ID__c":"ORPHA:98957","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal gelatinosa en gotas","Spanish_Description_Source__c":"ORPHA:98957","Spanish_Description__c":"La distrofia corneal gelatinosa en gotas (GDCD) es una forma de distrofia corneal superficial caracterizada por unos nódulos gelatinosos, múltiples, prominentes y de color blanco lechoso bajo el epitelio corneal, y un marcado deterioro visual.","Spanish_Disease_Name__c":"distrofia corneal gelatinosa en gotas","Spanish_GARD_Synonym__c":"amiloidosis familiar primaria de la córnea; amiloidosis subepitelial de la córnea; gdcd","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":"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.","Curated_Disease_Description_Source__c":"MONDO:0008777","GARD_Synonym__c":"amyloid corneal dystrophy, japanese type; corneal amyloidosis; corneal dystrophy, gelatinous drop-like; gdcd; gdld; gelatinous drop-like corneal dystrophy; lattice corneal dystrophy type iii; primary familial amyloidosis of the cornea; subepithelial amyloidosis of the cornea","Name":"Gelatinous droplike corneal dystrophy","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"},{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"Account_Name__c":"Cornea Research Foundation of America","Website__c":"http://www.cornea.org"},{"Account_Name__c":"Amyloidosis Support Groups Inc.","Website__c":"https://www.amyloidosissupport.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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98957"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0339273"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009647","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0339273","Source__c":"C0339273","Xref__c":"C0339273"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535480","Source__c":"MONDO:0008777","Xref__c":"C535480"},{"URL__c":"https://www.orpha.net/en/disease/detail/98957","Source__c":"C0339273; MONDO:0008777; ORPHA:98957","Xref__c":"ORPHA:98957"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060449","Source__c":"MONDO:0008777","Xref__c":"DOID:0060449"},{"URL__c":"https://www.omim.org/entry/204870","Source__c":"C0339273; MONDO:0008777; ORPHA:98957","Xref__c":"OMIM:204870"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C142805","Source__c":"C0339273; MONDO:0008777","Xref__c":"C142805"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90939","Source__c":"C0339273","Xref__c":"MEDGEN:90939"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008777","Source__c":"GARD:0009647","Xref__c":"MONDO:0008777"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=419900000","Source__c":"C0339273","Xref__c":"419900000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TACSTD2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98957","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased lacrimation, that is, excessive tearing (watering eye).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009926","HPO_Synonym__c":"Increased lacrimation; Increased tears; Tearing; Watery eyes","HPO_Name__c":"Epiphora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98957","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced transparency of the central portion of the corneal stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011493","HPO_Name__c":"Central opacification of the cornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98957","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of amyloidosis that affects the conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010637","HPO_Name__c":"Conjunctival amyloidosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98957","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A perception that an object is in contact with the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034804","HPO_Synonym__c":"Conjunctival foreign body sensation; Foreign body sensation in the eye","HPO_Name__c":"Corneal foreign body sensation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98957","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:98957","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008039","HPO_Name__c":"Subepithelial corneal opacities","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98957","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of sharpness of vision resulting in the inability to see fine detail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000622","HPO_Synonym__c":"Blurred vision","HPO_Name__c":"Blurred vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98957","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ingrowth of new blood vessels into the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011496","HPO_Synonym__c":"Corneal vascularization; Limbal neovascularization; New blood vessel formation in cornea","HPO_Name__c":"Corneal neovascularization","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98957","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200026","HPO_Synonym__c":"Eye pain","HPO_Name__c":"Ocular pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98957","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98957","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000643","HPO_Synonym__c":"Eyelid spasm; Eyelid twitching; Involuntary closure of eyelid; Spontaneous closure of eyelid","HPO_Name__c":"Blepharospasm","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["amyloid corneal dystrophy, japanese type"," corneal amyloidosis"," corneal dystrophy, gelatinous drop-like"," gdcd"," gdld"," gelatinous drop-like corneal dystrophy"," lattice corneal dystrophy type iii"," primary familial amyloidosis of the cornea"," subepithelial amyloidosis of the cornea"]}