{"Name":"Congenital malabsorptive diarrhea 4","DiseaseID__c":"GARD:0016729","id":16729,"encodedName":"congenital-malabsorptive-diarrhea-4","IsDeleted":false,"Disease_Name_Full__c":"Congenital malabsorptive diarrhea 4","Xref_IDs__c":"722392003; C1835888; C563673; DOID:0060779; MEDGEN:372151; MONDO:0012479; OMIM:610370; ORPHA:83620","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012479","Disease_Description__c":"A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.","GARD_Name__c":"Congenital malabsorptive diarrhea 4","GARD_Synonym__c":"congenital diarrhea caused by mutation in neurog3; congenital diarrhoea caused by mutation in neurog3; congenital malabsorptive diarrhea due to paucity of enteroendocrine cells; congenital malabsorptive diarrhea type 4; congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells; congenital malabsorptive diarrhoea type 4; diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency; enteric anendocrinosis; neurog3 congenital diarrhea; neurog3 congenital diarrhoea","Curated_Disease_Description_Source__c":"MONDO:0012479","Curated_Disease_Description__c":"A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.","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:83620","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012479","ORPHANET_ID__c":"ORPHA:83620","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anendocrinosis entérica","Spanish_Description_Source__c":"ORPHA:83620","Spanish_Description__c":"Es una enfermedad genética gastroenterológica muy poco frecuente, caracterizada por diarrea malabsortiva grave (requiere nutrición parenteral y desaparece con el ayuno) debida a la falta de células enteroendocrinas intestinales. Se asocia con un inicio temprano (dentro de las primeras semanas de vida) de deshidratación, acidosis metabólica y diabetes mellitus (que puede desarrollarse hasta la infancia tardía). El afectado puede presentar varios grados de insuficiencia pancreática que no explican la diarrea, ya que no se reduce con la suplementación de enzimas pancreáticas. También se ha notificado hipogonadismo central (desarrollándose en la segunda década), así como una asociación con la enfermedad celíaca.","Spanish_Disease_Name__c":"anendocrinosis entérica","Spanish_GARD_Synonym__c":"diarrea congénita con malabsorción por insuficiencia de células enteroendocrinas","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":"A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.","Curated_Disease_Description_Source__c":"MONDO:0012479","GARD_Synonym__c":"congenital diarrhea caused by mutation in neurog3; congenital diarrhoea caused by mutation in neurog3; congenital malabsorptive diarrhea due to paucity of enteroendocrine cells; congenital malabsorptive diarrhea type 4; congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells; congenital malabsorptive diarrhoea type 4; diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency; enteric anendocrinosis; neurog3 congenital diarrhea; neurog3 congenital diarrhoea","Name":"Congenital malabsorptive diarrhea 4","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":"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:83620"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:83620"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/610370","Source__c":"C1835888; MONDO:0012479; ORPHA:83620","Xref__c":"OMIM:610370"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060779","Source__c":"MONDO:0012479","Xref__c":"DOID:0060779"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722392003","Source__c":"C1835888; MONDO:0012479","Xref__c":"722392003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=372151","Source__c":"C1835888","Xref__c":"MEDGEN:372151"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563673","Source__c":"MONDO:0012479","Xref__c":"C563673"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835888","Source__c":"C1835888","Xref__c":"C1835888"},{"URL__c":"https://www.orpha.net/en/disease/detail/83620","Source__c":"C1835888; MONDO:0012479; ORPHA:83620","Xref__c":"ORPHA:83620"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012479","Source__c":"GARD:0016729","Xref__c":"MONDO:0012479"},{"URL__c":"https://hpo.jax.org/browse/term/HP:6001346","Source__c":"C1835888","Xref__c":"HP:6001346"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NEUROG3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:83620","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83620","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased pressure in the portal vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001409","HPO_Name__c":"Portal hypertension","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83620","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:83620","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of metabolic acidosis with increased serum chloride levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004918","HPO_Synonym__c":"Non-gap acidosis","HPO_Name__c":"Hyperchloremic metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:83620","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002611","HPO_Name__c":"Cholestatic liver disease","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83620","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83620","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83620","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of cellular morphology or physiology.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025354","HPO_Name__c":"Abnormal cellular phenotype","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:83620","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100651","HPO_Synonym__c":"Diabetes mellitus Type I; Juvenile diabetes mellitus; Type 1 diabetes; Type I diabetes","HPO_Name__c":"Type I diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["congenital diarrhea caused by mutation in neurog3"," congenital diarrhoea caused by mutation in neurog3"," congenital malabsorptive diarrhea due to paucity of enteroendocrine cells"," congenital malabsorptive diarrhea type 4"," congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells"," congenital malabsorptive diarrhoea type 4"," diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency"," enteric anendocrinosis"," neurog3 congenital diarrhea"," neurog3 congenital diarrhoea"]}