{"Name":"Hereditary benign intraepithelial dyskeratosis","DiseaseID__c":"GARD:0017524","id":17524,"encodedName":"hereditary-benign-intraepithelial-dyskeratosis","IsDeleted":false,"Disease_Name_Full__c":"Hereditary benign intraepithelial dyskeratosis","Xref_IDs__c":"400014002; C0265966; C3940; C562551; MEDGEN:75588; MONDO:0007486; OMIM:127600; ORPHA:352657","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007486","Disease_Description__c":"A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.","GARD_Name__c":"Hereditary benign intraepithelial dyskeratosis","GARD_Synonym__c":"hbid; hereditary benign corneal intraepithelial dyskeratosis; witkop-von sallman syndrome; witkop-von sallmann disease","Curated_Disease_Description_Source__c":"ORPHA:352657","Curated_Disease_Description__c":"A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in Haliwa-Saponi Native American descendents. Patients may be asymptomatic or present with ocular itching, superficial corneal scarring, excessive lacrimation, photophobia and visual loss due to corneal opacity. Histologically, both ocular and oral lesions display acanthosis with hyperkeratosis and prominent dyskeratosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:352657","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007486","ORPHANET_ID__c":"ORPHA:352657","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Disqueratosis intraepitelial benigna hereditaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"disqueratosis intraepitelial benigna hereditaria","Spanish_GARD_Synonym__c":"disqueratosis intraepitelial corneal benigna hereditaria; hbid","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":"A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in Haliwa-Saponi Native American descendents. Patients may be asymptomatic or present with ocular itching, superficial corneal scarring, excessive lacrimation, photophobia and visual loss due to corneal opacity. Histologically, both ocular and oral lesions display acanthosis with hyperkeratosis and prominent dyskeratosis.","Curated_Disease_Description_Source__c":"ORPHA:352657","GARD_Synonym__c":"hbid; hereditary benign corneal intraepithelial dyskeratosis; witkop-von sallman syndrome; witkop-von sallmann disease","Name":"Hereditary benign intraepithelial dyskeratosis","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":"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:352657"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:352657"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562551","Source__c":"MONDO:0007486","Xref__c":"C562551"},{"URL__c":"https://www.orpha.net/en/disease/detail/352657","Source__c":"C0265966; MONDO:0007486; ORPHA:352657","Xref__c":"ORPHA:352657"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400014002","Source__c":"C0265966; MONDO:0007486","Xref__c":"400014002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75588","Source__c":"C0265966","Xref__c":"MEDGEN:75588"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3940","Source__c":"C0265966; MONDO:0007486","Xref__c":"C3940"},{"URL__c":"https://www.omim.org/entry/127600","Source__c":"C0265966; MONDO:0007486; ORPHA:352657","Xref__c":"OMIM:127600"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265966","Source__c":"C0265966","Xref__c":"C0265966"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007486","Source__c":"GARD:0017524","Xref__c":"MONDO:0007486"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:127600","Feature__r":{"HPO_Description__c":"A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025337","HPO_Synonym__c":"Red eye; Red eyes","HPO_Name__c":"Red eye","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:127600","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:127600","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":"OMIM:127600","Feature__r":{"HPO_Description__c":"A thickened white patch on the oral mucosa that cannot be rubbed off.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002745","HPO_Synonym__c":"leukokeratosis; Oral idiopathic keratosis; Oral idiopathic leukoplakia; Oral idiopathic white patch; Oral leucoplakia; Oral leukokeratosis; Oral leukoplasia; Oral white patch; Oral white plaque","HPO_Name__c":"Oral leukoplakia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["hbid"," hereditary benign corneal intraepithelial dyskeratosis"," witkop-von sallman syndrome"," witkop-von sallmann disease"]}