{"Name":"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome","DiseaseID__c":"GARD:0017384","id":17384,"encodedName":"hypotrichosis-osteolysis-periodontitis-palmoplantar-keratoderma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome","Xref_IDs__c":"763658004; C1843285; C564357; MEDGEN:375146; MONDO:0011884; OMIM:607658; ORPHA:307936","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011884","Disease_Description__c":"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.","GARD_Name__c":"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome","GARD_Synonym__c":"hopp syndrome; hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome; hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome; hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome; hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome","Curated_Disease_Description_Source__c":"MONDO:0011884","Curated_Disease_Description__c":"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.","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:307936","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011884","ORPHANET_ID__c":"ORPHA:307936","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipotricosis-osteólisis-periodontitis-queratodermia palmoplantar","Spanish_Description_Source__c":"ORPHA:307936","Spanish_Description__c":"El síndrome de hipotricosis-osteólisis-periodontitis-queratodermia palmoplantar es un síndrome de displasia ectodérmica extremadamente infrecuente caracterizado por hipotricosis universal con alopecia cicatricial leve o grave, acroosteólisis, onicogrifosis, puntas de los dedos finas y afiladas, periodontitis y caries que conducen a la pérdida prematura de los dientes, queratodermia palmoplantar lineal o reticular y lesiones cutáneas eritematosas psoriasiformes con descamación en brazos y piernas. Asimismo, se ha asociado a lengua plicata y taquicardia venticular.","Spanish_Disease_Name__c":"síndrome de hipotricosis-osteólisis-periodontitis-queratodermia palmoplantar","Spanish_GARD_Synonym__c":"síndrome de hipotricosis-hiperqueratosis palmoplantar estriada-acrooestólisis-periodontitis; síndrome de hipotricosis-osteólisis-periodontitis-hiperqueratosis palmoplantar; síndrome de hipotricosis-queratodermia palmoplantar estriada-acrooestólisis-periodontitis; síndrome hopp","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":"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.","Curated_Disease_Description_Source__c":"MONDO:0011884","GARD_Synonym__c":"hopp syndrome; hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome; hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome; hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome; hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome","Name":"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.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":"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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:307936"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:307936"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763658004","Source__c":"C1843285; MONDO:0011884","Xref__c":"763658004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843285","Source__c":"C1843285","Xref__c":"C1843285"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375146","Source__c":"C1843285","Xref__c":"MEDGEN:375146"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564357","Source__c":"MONDO:0011884","Xref__c":"C564357"},{"URL__c":"https://www.orpha.net/en/disease/detail/307936","Source__c":"C1843285; MONDO:0011884; ORPHA:307936","Xref__c":"ORPHA:307936"},{"URL__c":"https://www.omim.org/entry/607658","Source__c":"C1843285; MONDO:0011884; ORPHA:307936","Xref__c":"OMIM:607658"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011884","Source__c":"GARD:0017384","Xref__c":"MONDO:0011884"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Odontology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["hopp syndrome"," hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome"," hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome"," hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome"," hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome"]}