{"Name":"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome","DiseaseID__c":"GARD:0017306","id":17306,"encodedName":"keratosis-linearis-ichthyosis-congenita-sclerosing-keratoderma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome","Xref_IDs__c":"763775000; C1866029; C566600; MEDGEN:356430; MONDO:0011169; OMIM:601952; ORPHA:281201","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011169","Disease_Description__c":"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.","GARD_Name__c":"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome","GARD_Synonym__c":"keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome; klick syndrome","Curated_Disease_Description_Source__c":"MONDO:0011169","Curated_Disease_Description__c":"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.","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:281201","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011169","ORPHANET_ID__c":"ORPHA:281201","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de queratosis linear-ictiosis congénita-queratodermia esclerosante","Spanish_Description_Source__c":"ORPHA:281201","Spanish_Description__c":"El síndrome de queratosis linear-ictiosis congénita-queratodermia esclerosante es un trastorno epidérmico hereditario caracterizado por queratodermia palmoplantar, pápulas hiperqueratósicas de distribución lineal en las zonas flexurales de las grandes articulaciones (distribución similar a un cordón alrededor de las muñecas, en las fosas antecubitales y poplíteas), placas hiperqueratósicas (en el cuello, axilas, codos, muñecas y rodillas), leve descamación ictiosiforme y constricciones escleróticas alrededor de los dedos de las manos con deformidades flexurales.","Spanish_Disease_Name__c":"síndrome de queratosis linear-ictiosis congénita-queratodermia esclerosante","Spanish_GARD_Synonym__c":"síndrome klick","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":"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.","Curated_Disease_Description_Source__c":"MONDO:0011169","GARD_Synonym__c":"keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome; klick syndrome","Name":"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome","estimateUsa":""}],"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":"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":"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":"Neonatal","Provided_By__c":"ORPHA:281201"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:281201"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356430","Source__c":"C1866029","Xref__c":"MEDGEN:356430"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763775000","Source__c":"C1866029; MONDO:0011169","Xref__c":"763775000"},{"URL__c":"https://www.orpha.net/en/disease/detail/281201","Source__c":"C1866029; MONDO:0011169; ORPHA:281201","Xref__c":"ORPHA:281201"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566600","Source__c":"MONDO:0011169","Xref__c":"C566600"},{"URL__c":"https://www.omim.org/entry/601952","Source__c":"C1866029; MONDO:0011169; ORPHA:281201","Xref__c":"OMIM:601952"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866029","Source__c":"C1866029","Xref__c":"C1866029"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011169","Source__c":"GARD:0017306","Xref__c":"MONDO:0011169"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"POMP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:281201","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:281201","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome"," klick syndrome"]}