{"Name":"Isolated hyperchlorhidrosis","DiseaseID__c":"GARD:0017984","id":17984,"encodedName":"isolated-hyperchlorhidrosis","IsDeleted":false,"Disease_Name_Full__c":"Isolated hyperchlorhidrosis","Xref_IDs__c":"709413001; C1840437; DOID:0111371; MEDGEN:333560; MONDO:0007747; OMIM:143860; ORPHA:542657","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:542657","Disease_Description__c":"A rare genetic skin disease characterized by excessive salt wasting in sweat, leading to hyponatremic dehydration, hyperkalemia, and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia, hyperkalemia, increased aldosterone, and increased sweat chloride concentrations.","GARD_Name__c":"Isolated hyperchlorhidrosis","GARD_Synonym__c":"carbonic anhydrase xii deficiency; hyperchlorhidrosis, isolated","Curated_Disease_Description_Source__c":"ORPHA:542657","Curated_Disease_Description__c":"Isolated hyperchlorhidrosis is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat. In particular, 'hyperchlorhidrosis' refers to the high levels of chloride found in sweat, although both sodium and chloride are released. Because the salt is abnormally released from the body in sweat, there are lower than normal levels of sodium in fluids inside the body (hyponatremia). Most infants with isolated hyperchlorhidrosis experience one or more episodes of dehydration with low levels of sodium in the blood (hyponatremic dehydration), which can require hospitalization. These episodes typically follow a mild illness that causes vomiting or diarrhea. Affected infants also have poor feeding and an inability to grow and gain weight at the expected rate (failure to thrive). By early childhood, though, weight and height usually catch up to normal, although the abnormal loss of salt still remains. These individuals may still experience dangerous hyponatremia when they sweat excessively, for example in warm temperatures or when exercising. While hyperchlorhidrosis can occur as one of several features of other conditions, such as cystic fibrosis, people with isolated hyperchlorhidrosis do not have the additional signs and symptoms of these other conditions.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:542657","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007747","ORPHANET_ID__c":"ORPHA:542657","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperclorhidrosis aislada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hiperclorhidrosis aislada","Spanish_GARD_Synonym__c":"deficiencia de anhidrasa carbónica xii","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":"Isolated hyperchlorhidrosis is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat. In particular, 'hyperchlorhidrosis' refers to the high levels of chloride found in sweat, although both sodium and chloride are released. Because the salt is abnormally released from the body in sweat, there are lower than normal levels of sodium in fluids inside the body (hyponatremia). Most infants with isolated hyperchlorhidrosis experience one or more episodes of dehydration with low levels of sodium in the blood (hyponatremic dehydration), which can require hospitalization. These episodes typically follow a mild illness that causes vomiting or diarrhea. Affected infants also have poor feeding and an inability to grow and gain weight at the expected rate (failure to thrive). By early childhood, though, weight and height usually catch up to normal, although the abnormal loss of salt still remains. These individuals may still experience dangerous hyponatremia when they sweat excessively, for example in warm temperatures or when exercising. While hyperchlorhidrosis can occur as one of several features of other conditions, such as cystic fibrosis, people with isolated hyperchlorhidrosis do not have the additional signs and symptoms of these other conditions.","Curated_Disease_Description_Source__c":"ORPHA:542657","GARD_Synonym__c":"carbonic anhydrase xii deficiency; hyperchlorhidrosis, isolated","Name":"Isolated hyperchlorhidrosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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:542657"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1840437","Source__c":"C1840437","Xref__c":"C1840437"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333560","Source__c":"C1840437","Xref__c":"MEDGEN:333560"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=709413001","Source__c":"C1840437; MONDO:0007747","Xref__c":"709413001"},{"URL__c":"https://www.orpha.net/en/disease/detail/542657","Source__c":"C1840437; MONDO:0007747; ORPHA:542657","Xref__c":"ORPHA:542657"},{"URL__c":"https://www.omim.org/entry/143860","Source__c":"C1840437; MONDO:0007747; ORPHA:542657","Xref__c":"OMIM:143860"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111371","Source__c":"MONDO:0007747","Xref__c":"DOID:0111371"},{"URL__c":"https://medlineplus.gov/genetics/condition/isolated-hyperchlorhidrosis","Source__c":"GARD:0017984","Xref__c":"https://medlineplus.gov/genetics/condition/isolated-hyperchlorhidrosis"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007747","Source__c":"GARD:0017984","Xref__c":"MONDO:0007747"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CA12","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ca12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:143860","Feature__r":{"HPO_Description__c":"An abnormally increased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002153","HPO_Synonym__c":"Increased circulating potassium concentration","HPO_Name__c":"Hyperkalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:143860","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:143860","Feature__r":{"HPO_Description__c":"An abnormally decreased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002902","HPO_Synonym__c":"Low blood sodium levels","HPO_Name__c":"Hyponatremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:143860","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004906","HPO_Name__c":"Hypernatremic dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:143860","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of chloride in the sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012236","HPO_Synonym__c":"Elevated sweat chloride; Elevated sweat Cl; Elevated sweat Cl-","HPO_Name__c":"Elevated sweat chloride","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:143860","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["carbonic anhydrase xii deficiency"," hyperchlorhidrosis, isolated"]}