{"Name":"Exfoliative ichthyosis","DiseaseID__c":"GARD:0017329","id":17329,"encodedName":"exfoliative-ichthyosis","IsDeleted":false,"Disease_Name_Full__c":"Exfoliative ichthyosis","Xref_IDs__c":"C1838440; MEDGEN:325027; MONDO:0017339; ORPHA:289586","USA_Estimate__c":null,"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":null,"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":2,"Description_Source__c":"MONDO:0017339","Disease_Description__c":"Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.","GARD_Name__c":"Exfoliative ichthyosis","GARD_Synonym__c":"autosomal recessive exfoliative ichthyosis; ichthyosis exfoliativa","Curated_Disease_Description_Source__c":"MONDO:0017339","Curated_Disease_Description__c":"Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:289586","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017339","ORPHANET_ID__c":"ORPHA:289586","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ictiosis exfoliante","Spanish_Description_Source__c":"ORPHA:289586","Spanish_Description__c":"La ictiosis exfoliativa es un tipo de ictiosis congénita, no-sindrómica, hereditaria, caracterizada por la aparición en la lactancia de descamación palmoplantar de la piel (agravada por la exposición al agua y por oclusión) asociada con piel escamosa y seca en la mayor parte del cuerpo. También puede estar asociada a prurito e hipohidrosis. En las regiones húmedas y dañadas aparecen áreas bien demarcadas de piel denudada y las biopsias de piel revelan una reducción de la adhesión intercelular en las capas basal y suprabasal, edema intercelular prominente, numerosos agregados de filamentos de queratina en queratinocitos basales, envolturas celulares cornificadas atenuadas y alteración de la barrera cutánea.","Spanish_Disease_Name__c":"ictiosis exfoliante","Spanish_GARD_Synonym__c":"ictiosis exfoliante autosómica recesiva; ictiosis exfoliativa","Category_Linearization__c":"ORPHA:89826","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":"Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.","Curated_Disease_Description_Source__c":"MONDO:0017339","GARD_Synonym__c":"autosomal recessive exfoliative ichthyosis; ichthyosis exfoliativa","Name":"Exfoliative ichthyosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"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":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:289586"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:289586"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/289586","Source__c":"C1838440; MONDO:0017339; ORPHA:289586","Xref__c":"ORPHA:289586"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838440","Source__c":"C1838440","Xref__c":"C1838440"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=325027","Source__c":"C1838440","Xref__c":"MEDGEN:325027"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763768001","Source__c":"C1838440","Xref__c":"763768001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017339","Source__c":"GARD:0017329","Xref__c":"MONDO:0017339"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SERPINB8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CSTA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["autosomal recessive exfoliative ichthyosis"," ichthyosis exfoliativa"]}