{"Name":"Corneal dystrophy-perceptive deafness syndrome","DiseaseID__c":"GARD:0001529","id":1529,"encodedName":"corneal-dystrophy-perceptive-deafness-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Corneal dystrophy-perceptive deafness syndrome","Xref_IDs__c":"720749004; C1857572; C535473; DOID:0111620; MEDGEN:387858; MONDO:0009015; OMIM:217400; ORPHA:1490","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009015","Disease_Description__c":"Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss.","GARD_Name__c":"Corneal dystrophy-perceptive deafness syndrome","GARD_Synonym__c":"cdpd; congenital hereditary endothelial dystrophy and perceptive deafness syndrome; corneal dystrophy and perceptive deafness syndrome; corneal dystrophy and sensorineural deafness; corneal dystrophy with progressive deafness; corneal dystrophy with progressive hearing loss; corneal dystrophy-perceptive hearing loss syndrome; corneal endothelial dystrophy and perceptive deafness; harboyan syndrome","Curated_Disease_Description_Source__c":"MONDO:0009015","Curated_Disease_Description__c":"Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1490","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009015","ORPHANET_ID__c":"ORPHA:1490","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de distrofia de córnea-sordera de percepción","Spanish_Description_Source__c":"ORPHA:1490","Spanish_Description__c":"La distrofia de córnea con sordera de percepción (DCSP), o síndrome de Harboyan, es una afección córnea degenerativa caracterizada por la asociación de una distrofia endotelial congénita hereditaria (CHED, ver término) y una pérdida de audición neurosensorial postlingual progresiva.","Spanish_Disease_Name__c":"síndrome de distrofia de córnea-sordera de percepción","Spanish_GARD_Synonym__c":"distrofia corneal con hipoacusia progresiva; distrofia corneal con sordera progresiva; síndrome de distrofia corneal-hipoacusia de percepción","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":"Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.","Curated_Disease_Description_Source__c":"MONDO:0009015","GARD_Synonym__c":"cdpd; congenital hereditary endothelial dystrophy and perceptive deafness syndrome; corneal dystrophy and perceptive deafness syndrome; corneal dystrophy and sensorineural deafness; corneal dystrophy with progressive deafness; corneal dystrophy with progressive hearing loss; corneal dystrophy-perceptive hearing loss syndrome; corneal endothelial dystrophy and perceptive deafness; harboyan syndrome","Name":"Corneal dystrophy-perceptive deafness syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Corneal Dystrophy Foundation","Website__c":"https://www.cornealdystrophyfoundation.org/home"}],"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":"Otolaryngology","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":"Neonatal","Provided_By__c":"ORPHA:1490"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1857572"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001529","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720749004","Source__c":"C1857572; MONDO:0009015","Xref__c":"720749004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535473","Source__c":"MONDO:0009015","Xref__c":"C535473"},{"URL__c":"https://www.omim.org/entry/217400","Source__c":"C1857572; MONDO:0009015; ORPHA:1490","Xref__c":"OMIM:217400"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111620","Source__c":"MONDO:0009015","Xref__c":"DOID:0111620"},{"URL__c":"https://www.orpha.net/en/disease/detail/1490","Source__c":"C1857572; MONDO:0009015; ORPHA:1490","Xref__c":"ORPHA:1490"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=387858","Source__c":"C1857572","Xref__c":"MEDGEN:387858"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857572","Source__c":"C1857572","Xref__c":"C1857572"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009015","Source__c":"GARD:0001529","Xref__c":"MONDO:0009015"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC4A11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1490","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001131","HPO_Name__c":"Corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1490","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1490","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1490","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1490","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Otolaryngology","Anterior segment of Eye","Pediatrics"]},"synonyms":["cdpd"," congenital hereditary endothelial dystrophy and perceptive deafness syndrome"," corneal dystrophy and perceptive deafness syndrome"," corneal dystrophy and sensorineural deafness"," corneal dystrophy with progressive deafness"," corneal dystrophy with progressive hearing loss"," corneal dystrophy-perceptive hearing loss syndrome"," corneal endothelial dystrophy and perceptive deafness"," harboyan syndrome"]}