{"Name":"Congenital secretory diarrhea, chloride type","DiseaseID__c":"GARD:0010001","id":10001,"encodedName":"congenital-secretory-diarrhea-chloride-type","IsDeleted":false,"Disease_Name_Full__c":"Congenital secretory diarrhea, chloride type","Xref_IDs__c":"24412005; C0267662; C536210; DOID:0060296; MEDGEN:78631; MONDO:0008964; OMIM:214700; ORPHA:53689","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008964","Disease_Description__c":"Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.","GARD_Name__c":"Congenital secretory diarrhea, chloride type","GARD_Synonym__c":"chloride diarrhea, congenital, finnish type; chloridorrhea, congenital; congenital chloride diarrhea; congenital chloride diarrhea finnish type; congenital chloride diarrhoea finnish type; congenital chloridorrhea; congenital secretory chloride diarrhea 1; congenital secretory chloride diarrhea type 1; congenital secretory chloride diarrhoea type 1; defective cl^-^/hco^-^>3< exchange in ileum and/or colon; diar1; diarrhea 1, secretory chloride, congenital; familial chloride diarrhea; secretory diarrhea caused by mutation in slc26a3; secretory diarrhoea caused by mutation in slc26a3; slc26a3 secretory diarrhea; slc26a3 secretory diarrhoea","Curated_Disease_Description_Source__c":"GARD:0010001","Curated_Disease_Description__c":"Congenital chloride diarrhea (CCD) is a lifelong condition that causes large, watery stools (diarrhea) that contain an excess of chloride. Those with CCD have diarrhea even before birth. Signs of CCD before birth may be detected with an ultrasound, and may include an increased amount of amniotic fluid (polyhydramnios) and enlarged (dilated) intestinal loops in the fetus. Newborns with CCD are often premature and may have a swollen-looking abdomen (abdominal distention). For this reason, CCD is sometimes first mistaken for an intestinal obstruction. CCD causes electrolyte imbalances including low blood sodium levels (hyponatremia) and chloride levels (hypochloremia). Electrolyte imbalances and severe dehydration can lead to volume depletion (too little fluid surrounding body cells), loss of acid from the blood (metabolic alkalosis), hyperaldosteronism, delayed growth and development, and kidney damage (nephropathy). CCD is caused by genetic changes in the SLC26A3 gene and inheritance is autosomal recessive. The diagnosis is based on detecting excessive chloride in the feces, when the newborn is in fluid and electrolyte balance.","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:53689","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008964","ORPHANET_ID__c":"ORPHA:53689","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Diarrea clorada congénita","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"diarrea clorada congénita","Spanish_GARD_Synonym__c":"clorhidrorrea congénita","Category_Linearization__c":"ORPHA:97935","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":"Congenital chloride diarrhea (CCD) is a lifelong condition that causes large, watery stools (diarrhea) that contain an excess of chloride. Those with CCD have diarrhea even before birth. Signs of CCD before birth may be detected with an ultrasound, and may include an increased amount of amniotic fluid (polyhydramnios) and enlarged (dilated) intestinal loops in the fetus. Newborns with CCD are often premature and may have a swollen-looking abdomen (abdominal distention). For this reason, CCD is sometimes first mistaken for an intestinal obstruction. CCD causes electrolyte imbalances including low blood sodium levels (hyponatremia) and chloride levels (hypochloremia). Electrolyte imbalances and severe dehydration can lead to volume depletion (too little fluid surrounding body cells), loss of acid from the blood (metabolic alkalosis), hyperaldosteronism, delayed growth and development, and kidney damage (nephropathy). CCD is caused by genetic changes in the SLC26A3 gene and inheritance is autosomal recessive. The diagnosis is based on detecting excessive chloride in the feces, when the newborn is in fluid and electrolyte balance.","Curated_Disease_Description_Source__c":"GARD:0010001","GARD_Synonym__c":"chloride diarrhea, congenital, finnish type; chloridorrhea, congenital; congenital chloride diarrhea; congenital chloride diarrhea finnish type; congenital chloride diarrhoea finnish type; congenital chloridorrhea; congenital secretory chloride diarrhea 1; congenital secretory chloride diarrhea type 1; congenital secretory chloride diarrhoea type 1; defective cl^-^/hco^-^>3< exchange in ileum and/or colon; diar1; diarrhea 1, secretory chloride, congenital; familial chloride diarrhea; secretory diarrhea caused by mutation in slc26a3; secretory diarrhoea caused by mutation in slc26a3; slc26a3 secretory diarrhea; slc26a3 secretory diarrhoea","Name":"Congenital secretory diarrhea, chloride type","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"AGA GI Patient Center","Website__c":"https://patient.gastro.org/"},{"Account_Name__c":"International Foundation for Functional Gastrointestinal Disorders","Website__c":"https://iffgd.org/"},{"Account_Name__c":"Association of Gastrointestinal Motility Disorders","Website__c":"https://www.agmdhope.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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:53689"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:53689"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0267662"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010001","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0267662","Source__c":"C0267662","Xref__c":"C0267662"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78631","Source__c":"C0267662","Xref__c":"MEDGEN:78631"},{"URL__c":"https://www.orpha.net/en/disease/detail/53689","Source__c":"C0267662; MONDO:0008964; ORPHA:53689","Xref__c":"ORPHA:53689"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536210","Source__c":"MONDO:0008964","Xref__c":"C536210"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=24412005","Source__c":"C0267662; MONDO:0008964","Xref__c":"24412005"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060296","Source__c":"MONDO:0008964","Xref__c":"DOID:0060296"},{"URL__c":"https://www.omim.org/entry/214700","Source__c":"C0267662; MONDO:0008964; ORPHA:53689","Xref__c":"OMIM:214700"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008964","Source__c":"GARD:0010001","Xref__c":"MONDO:0008964"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC26A3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:214700","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:214700","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:214700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased level of renin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000848","HPO_Synonym__c":"Elevated blood renin level; Elevated plasma renin; Hyperreninemia; Increased circulating renin level; Increased plasma renin; Increased serum renin","HPO_Name__c":"Increased circulating renin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:214700","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:214700","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:214700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032067","HPO_Synonym__c":"Elevated serum HCO3 concentration","HPO_Name__c":"Elevated serum bicarbonate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:214700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Elevated amount of chloride in the stool.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034470","HPO_Synonym__c":"Chloride high in stool; Elevations in fecal chloride concentration","HPO_Name__c":"Elevated stool chloride content","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:214700","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001507","HPO_Synonym__c":"Abnormal growth; Growth abnormality; Growth issue","HPO_Name__c":"Growth abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:214700","Feature__r":{"HPO_Description__c":"An abnormally decreased chloride concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003113","HPO_Synonym__c":"Low blood chloride levels","HPO_Name__c":"Hypochloremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:214700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005208","HPO_Name__c":"Secretory diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:214700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000859","HPO_Synonym__c":"Elevated plasma aldosterone; Increased aldosterone; Increased aldosterone production; Mineralocorticoid excess","HPO_Name__c":"Increased circulating aldosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:214700","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:214700","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:214700","Feature__r":{"HPO_Description__c":"Depletion of acid or accumulation base in the body fluids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001948","HPO_Name__c":"Alkalosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:214700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002900","HPO_Synonym__c":"Low blood potassium levels","HPO_Name__c":"Hypokalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:214700","Feature__r":{"HPO_Description__c":"Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200114","HPO_Name__c":"Metabolic alkalosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:214700","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:214700","Feature__r":{"HPO_Description__c":"An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000841","HPO_Name__c":"Hyperactive renin-angiotensin system","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["chloride diarrhea, congenital, finnish type"," chloridorrhea, congenital"," congenital chloride diarrhea"," congenital chloride diarrhea finnish type"," congenital chloride diarrhoea finnish type"," congenital chloridorrhea"," congenital secretory chloride diarrhea 1"," congenital secretory chloride diarrhea type 1"," congenital secretory chloride diarrhoea type 1"," defective cl^-^/hco^-^>3< exchange in ileum and/or colon"," diar1"," diarrhea 1, secretory chloride, congenital"," familial chloride diarrhea"," secretory diarrhea caused by mutation in slc26a3"," secretory diarrhoea caused by mutation in slc26a3"," slc26a3 secretory diarrhea"," slc26a3 secretory diarrhoea"]}