{"Name":"Visceral heterotaxy","DiseaseID__c":"GARD:0010875","id":10875,"encodedName":"visceral-heterotaxy","IsDeleted":false,"Disease_Name_Full__c":"Visceral heterotaxy","Xref_IDs__c":"14821001; C117273; C3178805; DOID:0050545; MEDGEN:465273; MONDO:0018677; OMIMPS:306955; ORPHA:450","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018677","Disease_Description__c":"A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.","GARD_Name__c":"Visceral heterotaxy","GARD_Synonym__c":"heterotaxia; heterotaxia syndrome; heterotaxy syndrome; heterotaxy, visceral; incomplete situs inversus; lateralization defect; partial situs inversus; situs ambiguous; situs ambiguus","Curated_Disease_Description_Source__c":"GARD:0010875","Curated_Disease_Description__c":"Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term 'heterotaxy' is from the Greek words 'heteros,' meaning 'other than,' and 'taxis,' meaning 'arrangement.' Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs. In the normal body, most of the organs in the chest and abdomen have a particular location on the right or left side. For example, the heart, spleen, and pancreas are on the left side of the body, and most of the liver is on the right. This normal arrangement of the organs is known as 'situs solitus.' Rarely, the orientation of the internal organs is completely flipped from right to left, a situation known as 'situs inversus.' This mirror-image orientation usually does not cause any health problems, unless it occurs as part of a syndrome affecting other parts of the body. Heterotaxy syndrome is an arrangement of internal organs somewhere between situs solitus and situs inversus; this condition is also known as 'situs ambiguus.' Unlike situs inversus, the abnormal arrangement of organs in heterotaxy syndrome often causes serious health problems. Heterotaxy syndrome can alter the structure of the heart, including the attachment of the large blood vessels that carry blood to and from the rest of the body. It can also affect the structure of the lungs, such as the number of lobes in each lung and the length of the tubes (called bronchi) that lead from the windpipe to the lungs. In the abdomen, the condition can cause a person to have no spleen (asplenia) or multiple small, poorly functioning spleens (polysplenia). The liver may lie across the middle of the body instead of being in its normal position to the right of the stomach. Some affected individuals also have intestinal malrotation, which is an abnormal twisting of the intestines that occurs in the early stages of development before birth. Depending on the organs involved, signs and symptoms of heterotaxy syndrome can include a bluish appearance of the skin or lips (cyanosis, which is due to a shortage of oxygen), breathing difficulties, an increased risk of infections, and problems with digesting food. The most serious complications are generally caused by critical congenital heart disease, a group of complex heart defects that are present from birth. Biliary atresia, a problem with the bile ducts in the liver, can also cause severe health problems in infancy. The severity of heterotaxy syndrome varies depending on the specific abnormalities involved. Some affected individuals have only mild health problems related to the condition. At the other end of the spectrum, heterotaxy syndrome can be life-threatening in infancy or childhood, even with treatment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:450","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018677","ORPHANET_ID__c":"ORPHA:157769; ORPHA:450","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Heterotaxia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"heterotaxia","Spanish_GARD_Synonym__c":"defecto de lateralidad","Category_Linearization__c":"ORPHA:93890","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":"Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term 'heterotaxy' is from the Greek words 'heteros,' meaning 'other than,' and 'taxis,' meaning 'arrangement.' Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs. In the normal body, most of the organs in the chest and abdomen have a particular location on the right or left side. For example, the heart, spleen, and pancreas are on the left side of the body, and most of the liver is on the right. This normal arrangement of the organs is known as 'situs solitus.' Rarely, the orientation of the internal organs is completely flipped from right to left, a situation known as 'situs inversus.' This mirror-image orientation usually does not cause any health problems, unless it occurs as part of a syndrome affecting other parts of the body. Heterotaxy syndrome is an arrangement of internal organs somewhere between situs solitus and situs inversus; this condition is also known as 'situs ambiguus.' Unlike situs inversus, the abnormal arrangement of organs in heterotaxy syndrome often causes serious health problems. Heterotaxy syndrome can alter the structure of the heart, including the attachment of the large blood vessels that carry blood to and from the rest of the body. It can also affect the structure of the lungs, such as the number of lobes in each lung and the length of the tubes (called bronchi) that lead from the windpipe to the lungs. In the abdomen, the condition can cause a person to have no spleen (asplenia) or multiple small, poorly functioning spleens (polysplenia). The liver may lie across the middle of the body instead of being in its normal position to the right of the stomach. Some affected individuals also have intestinal malrotation, which is an abnormal twisting of the intestines that occurs in the early stages of development before birth. Depending on the organs involved, signs and symptoms of heterotaxy syndrome can include a bluish appearance of the skin or lips (cyanosis, which is due to a shortage of oxygen), breathing difficulties, an increased risk of infections, and problems with digesting food. The most serious complications are generally caused by critical congenital heart disease, a group of complex heart defects that are present from birth. Biliary atresia, a problem with the bile ducts in the liver, can also cause severe health problems in infancy. The severity of heterotaxy syndrome varies depending on the specific abnormalities involved. Some affected individuals have only mild health problems related to the condition. At the other end of the spectrum, heterotaxy syndrome can be life-threatening in infancy or childhood, even with treatment.","Curated_Disease_Description_Source__c":"GARD:0010875","GARD_Synonym__c":"heterotaxia; heterotaxia syndrome; heterotaxy syndrome; heterotaxy, visceral; incomplete situs inversus; lateralization defect; partial situs inversus; situs ambiguous; situs ambiguus","Name":"Visceral heterotaxy","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Heterotaxy Connection","Website__c":"https://www.heterotaxyconnection.org/"},{"Account_Name__c":"Mended Hearts","Website__c":"https://mendedhearts.org/"},{"Account_Name__c":"The Children's Heart Foundation","Website__c":"https://www.childrensheartfoundation.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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Congenital Heart Disease","Tag_Category__c":"Specialist","curated_tag_name":"Congenital heart disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:450"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:450"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=465273","Source__c":"C3178805","Xref__c":"MEDGEN:465273"},{"URL__c":"https://www.orpha.net/en/disease/detail/450","Source__c":"C3178805; MONDO:0018677; ORPHA:450","Xref__c":"ORPHA:450"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=14821001","Source__c":"MONDO:0018677","Xref__c":"14821001"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050545","Source__c":"MONDO:0018677","Xref__c":"DOID:0050545"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C117273","Source__c":"C3178805; MONDO:0018677","Xref__c":"C117273"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3178805","Source__c":"C3178805","Xref__c":"C3178805"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS306955","Source__c":"MONDO:0018677","Xref__c":"OMIMPS:306955"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C059446","Source__c":"C3178805","Xref__c":"D059446"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018677","Source__c":"GARD:0010875","Xref__c":"MONDO:0018677"},{"URL__c":"https://medlineplus.gov/genetics/condition/heterotaxy-syndrome","Source__c":"GARD:0010875","Xref__c":"https://medlineplus.gov/genetics/condition/heterotaxy-syndrome"}],"Inheritance__c":["X-linked recessive","Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Gastroenterology","Congenital Heart Disease","Pediatrics"]},"synonyms":["heterotaxia"," heterotaxia syndrome"," heterotaxy syndrome"," heterotaxy, visceral"," incomplete situs inversus"," lateralization defect"," partial situs inversus"," situs ambiguous"," situs ambiguus"]}