{"Name":"Isolated anhidrosis with normal sweat glands","DiseaseID__c":"GARD:0017843","id":17843,"encodedName":"isolated-anhidrosis-with-normal-sweat-glands","IsDeleted":false,"Disease_Name_Full__c":"Isolated anhidrosis with normal sweat glands","Xref_IDs__c":"C5568836; DOID:0060603; MEDGEN:1800259; MONDO:0007118; OMIM:106190; ORPHA:468666","USA_Estimate__c":"1,000","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":"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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007118","Disease_Description__c":"Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.","GARD_Name__c":"Isolated anhidrosis with normal sweat glands","GARD_Synonym__c":"anhidrosis caused by mutation in itpr2; dann-epstein-sohar syndrome; isolated generalized anhidrosis with normal sweat glands; itpr2 anhidrosis","Curated_Disease_Description_Source__c":"ORPHA:468666","Curated_Disease_Description__c":"A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:468666","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007118","ORPHANET_ID__c":"ORPHA:468666","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anhidrosis generalizada aislada con glándulas sudoríparas normales","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"anhidrosis generalizada aislada con glándulas sudoríparas normales","Spanish_GARD_Synonym__c":null,"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 congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.","Curated_Disease_Description_Source__c":"ORPHA:468666","GARD_Synonym__c":"anhidrosis caused by mutation in itpr2; dann-epstein-sohar syndrome; isolated generalized anhidrosis with normal sweat glands; itpr2 anhidrosis","Name":"Isolated anhidrosis with normal sweat glands","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"International Hyperhidrosis Society","Website__c":"https://www.sweathelp.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":"Neonatal","Provided_By__c":"ORPHA:468666"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/106190","Source__c":"C5568836; MONDO:0007118; ORPHA:468666","Xref__c":"OMIM:106190"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5568836","Source__c":"C5568836","Xref__c":"C5568836"},{"URL__c":"https://www.orpha.net/en/disease/detail/468666","Source__c":"C5568836; MONDO:0007118; ORPHA:468666","Xref__c":"ORPHA:468666"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060603","Source__c":"MONDO:0007118","Xref__c":"DOID:0060603"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1800259","Source__c":"C5568836","Xref__c":"MEDGEN:1800259"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187178004","Source__c":"C5568836","Xref__c":"1187178004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007118","Source__c":"GARD:0017843","Xref__c":"MONDO:0007118"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ITPR2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:106190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The inability to maintain a comfortable body temperature in warm or hot weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002046","HPO_Synonym__c":"Heat intolerance; Intolerance to heat and fevers","HPO_Name__c":"Heat intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:106190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007459","HPO_Synonym__c":"Generalized anhydrosis; Generalized inability to sweat","HPO_Name__c":"Generalized anhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["anhidrosis caused by mutation in itpr2"," dann-epstein-sohar syndrome"," isolated generalized anhidrosis with normal sweat glands"," itpr2 anhidrosis"]}