{"Name":"Keratoderma with scleroatrophy of the extremities","DiseaseID__c":"GARD:0008517","id":8517,"encodedName":"keratoderma-with-scleroatrophy-of-the-extremities","IsDeleted":false,"Disease_Name_Full__c":"Keratoderma with scleroatrophy of the extremities","Xref_IDs__c":"239076000; C0406767; C537526; MEDGEN:98360; MONDO:0008416; OMIM:181600; ORPHA:384","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:384","Disease_Description__c":"A rare genetic skin disease characterized by the triad of congenital scleroatrophy predominantly of the hands with sclerodactyly, palmoplantar keratoderma, and nail changes (consisting of hypoplasia, ridging, clubbing, and white discoloration). Additional features include palmar hypohidrosis and a high susceptibility to early-onset squamous cell carcinoma of affected skin areas.","GARD_Name__c":"Keratoderma with scleroatrophy of the extremities","GARD_Synonym__c":"hrz; huriez syndrome; keratoderma with scleroatrophy of extremities; palmoplantar hyperkeratosis sclerodactyly syndrome; palmoplantar hyperkeratosis-sclerodactyly syndrome; palmoplantar keratoderma sclerodactyly syndrome; palmoplantar keratoderma-sclerodactyly syndrome; scleroatrophic and keratotic dermatosis of limbs; scleroatrophic syndrome; sclerotylosis","Curated_Disease_Description_Source__c":"ORPHA:384","Curated_Disease_Description__c":"A rare genetic skin disease characterized by the triad of congenital scleroatrophy predominantly of the hands with sclerodactyly, palmoplantar keratoderma, and nail changes (consisting of hypoplasia, ridging, clubbing, and white discoloration). Additional features include palmar hypohidrosis and a high susceptibility to early-onset squamous cell carcinoma of affected skin areas.","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:384","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008416","ORPHANET_ID__c":"ORPHA:384","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de huriez","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de huriez","Spanish_GARD_Synonym__c":"esclerotilosis; síndrome de hiperqueratosis palmoplantar-esclerodactilia; síndrome de queratodermia palmoplantar-esclerodactilia; síndrome escleroatrófico","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":"A rare genetic skin disease characterized by the triad of congenital scleroatrophy predominantly of the hands with sclerodactyly, palmoplantar keratoderma, and nail changes (consisting of hypoplasia, ridging, clubbing, and white discoloration). Additional features include palmar hypohidrosis and a high susceptibility to early-onset squamous cell carcinoma of affected skin areas.","Curated_Disease_Description_Source__c":"ORPHA:384","GARD_Synonym__c":"hrz; huriez syndrome; keratoderma with scleroatrophy of extremities; palmoplantar hyperkeratosis sclerodactyly syndrome; palmoplantar hyperkeratosis-sclerodactyly syndrome; palmoplantar keratoderma sclerodactyly syndrome; palmoplantar keratoderma-sclerodactyly syndrome; scleroatrophic and keratotic dermatosis of limbs; scleroatrophic syndrome; sclerotylosis","Name":"Keratoderma with scleroatrophy of the extremities","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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:384"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:384"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008517","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406767","Source__c":"C0406767","Xref__c":"C0406767"},{"URL__c":"https://www.orpha.net/en/disease/detail/384","Source__c":"C0406767; MONDO:0008416; ORPHA:384","Xref__c":"ORPHA:384"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239076000","Source__c":"C0406767; MONDO:0008416","Xref__c":"239076000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98360","Source__c":"C0406767","Xref__c":"MEDGEN:98360"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537526","Source__c":"MONDO:0008416","Xref__c":"C537526"},{"URL__c":"https://www.omim.org/entry/181600","Source__c":"C0406767; MONDO:0008416; ORPHA:384","Xref__c":"OMIM:181600"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008416","Source__c":"GARD:0008517","Xref__c":"MONDO:0008416"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SMARCAD1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/smarcad1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100679","HPO_Name__c":"Lack of skin elasticity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:384","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:384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Localized thickening and tightness of the skin of the fingers or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011838","HPO_Name__c":"Sclerodactyly","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008065","HPO_Synonym__c":"Absent/small skin; Absent/underdeveloped skin","HPO_Name__c":"Aplasia/Hypoplasia of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nail that is diminished in length and width, i.e., underdeveloped nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001792","HPO_Synonym__c":"Hypoplastic nail; Hypoplastic nails; Nail hypoplasia; Small nail; Small nails","HPO_Name__c":"Small nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["hrz"," huriez syndrome"," keratoderma with scleroatrophy of extremities"," palmoplantar hyperkeratosis sclerodactyly syndrome"," palmoplantar hyperkeratosis-sclerodactyly syndrome"," palmoplantar keratoderma sclerodactyly syndrome"," palmoplantar keratoderma-sclerodactyly syndrome"," scleroatrophic and keratotic dermatosis of limbs"," scleroatrophic syndrome"," sclerotylosis"]}