{"Name":"Alpha, alpha-Trehalase deficiency","DiseaseID__c":"GARD:0010372","id":10372,"encodedName":"alpha-alpha-trehalase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Alpha, alpha-Trehalase deficiency","Xref_IDs__c":"84193000; C0268187; C562603; MEDGEN:75660; MONDO:0012803; OMIM:612119; ORPHA:103909","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012803","Disease_Description__c":"A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere.","GARD_Name__c":"Alpha, alpha-Trehalase deficiency","GARD_Synonym__c":"diarrhea-vomiting due to trehalase deficiency; isolated trehalose intolerance; trehalase deficiency; trehalose intolerance","Curated_Disease_Description_Source__c":"GARD:0010372","Curated_Disease_Description__c":"Trehalase deficiency is a metabolic condition in which the body lacks an enzyme called trehalase and is not able to convert trehalose, a disaccharide (sugar composed of two monosaccharides) into glucose (sugar composed of one monosaccharide). Trehalose is found naturally in mushrooms, algae and insects. Trehalose may additionally be found in manufactured food products, medications, and cosmetics. For trehalose to be digested and absorbed by the digestive system, it must be broken down into glucose. Individuals with this deficiency are therefore unable to breakdown and absorb trehalose. This may lead to vomiting, abdominal discomfort and diarrhea after eating foods containing trehalose. Trehalase deficiency is caused by genetic changes in the TREH gene. Both autosomal recessive and autosomal dominant inheritance patterns have been described in the medical literature.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:103909","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012803","ORPHANET_ID__c":"ORPHA:103909","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de trehalasa","Spanish_Description_Source__c":"ORPHA:103909","Spanish_Description__c":"Es una enfermedad intestinal, de origen genético y poco frecuente, caracterizada por diarrea osmótica, dolor abdominal y meteorismo después de la ingestión de trehalosa, un disacárido que se encuentra principalmente en las setas, debido a la deficiencia de trehalasa intestinal. Afecta principalmente a la población de Groenlandia, aunque también se han descrito casos en otras regiones.","Spanish_Disease_Name__c":"deficiencia de trehalasa","Spanish_GARD_Synonym__c":"intolerancia a la trehalosa aislada; intolerancia aislada a la trehalosa","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":"Trehalase deficiency is a metabolic condition in which the body lacks an enzyme called trehalase and is not able to convert trehalose, a disaccharide (sugar composed of two monosaccharides) into glucose (sugar composed of one monosaccharide). Trehalose is found naturally in mushrooms, algae and insects. Trehalose may additionally be found in manufactured food products, medications, and cosmetics. For trehalose to be digested and absorbed by the digestive system, it must be broken down into glucose. Individuals with this deficiency are therefore unable to breakdown and absorb trehalose. This may lead to vomiting, abdominal discomfort and diarrhea after eating foods containing trehalose. Trehalase deficiency is caused by genetic changes in the TREH gene. Both autosomal recessive and autosomal dominant inheritance patterns have been described in the medical literature.","Curated_Disease_Description_Source__c":"GARD:0010372","GARD_Synonym__c":"diarrhea-vomiting due to trehalase deficiency; isolated trehalose intolerance; trehalase deficiency; trehalose intolerance","Name":"Alpha, alpha-Trehalase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:103909"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:103909"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268187"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010372","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=84193000","Source__c":"C0268187; MONDO:0012803","Xref__c":"84193000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75660","Source__c":"C0268187","Xref__c":"MEDGEN:75660"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562603","Source__c":"MONDO:0012803","Xref__c":"C562603"},{"URL__c":"https://www.orpha.net/en/disease/detail/103909","Source__c":"C0268187; MONDO:0012803; ORPHA:103909","Xref__c":"ORPHA:103909"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268187","Source__c":"C0268187","Xref__c":"C0268187"},{"URL__c":"https://www.omim.org/entry/612119","Source__c":"C0268187; MONDO:0012803; ORPHA:103909","Xref__c":"OMIM:612119"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012803","Source__c":"GARD:0010372","Xref__c":"MONDO:0012803"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TREH","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:103909","HPO_Frequency__c":"Occasional (5-29%)","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:103909","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:103909","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:103909","HPO_Frequency__c":"Occasional (5-29%)","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:103909","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:103909","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["diarrhea-vomiting due to trehalase deficiency"," isolated trehalose intolerance"," trehalase deficiency"," trehalose intolerance"]}