{"Name":"Hemochromatosis type 5","DiseaseID__c":"GARD:0013472","id":13472,"encodedName":"hemochromatosis-type-5","IsDeleted":false,"Disease_Name_Full__c":"Hemochromatosis type 5","Xref_IDs__c":"C1851316; C565020; DOID:0111031; MEDGEN:341982; MONDO:0014225; OMIM:615517; ORPHA:247790","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0014225","Disease_Description__c":"Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.","GARD_Name__c":"Hemochromatosis type 5","GARD_Synonym__c":"ferritin heavy chain 1-related iron overload; fth1 (ferritin heavy chain 1) related iron overload; fth1 hereditary hemochromatosis; fth1-associated iron overload; fth1-related iron overload; hereditary hemochromatosis caused by mutation in fth1; hfe5; iron overload, autosomal dominant","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"FTH1-related iron overload (Hemochromatosis type 5) is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. FTH1-related iron overload has only been reported in one family from Japan. People in this family who had the disease did not have any symptoms. However, an MRI showed increased levels of iron in the liver, heart, and bone marrow. There were also high levels of iron in the blood. FTH1-related iron overload is caused by genetic changes (genetic changes or pathogenic variants) to the FTH1 gene. The disease is inherited in an autosomal dominant manner. Because FTH1-related iron overload is so rare, the disease may not be suspected until signs are seen on an MRI, liver biopsy, or a blood test. The diagnosis may be confirmed with genetic testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:247790","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014225","ORPHANET_ID__c":"ORPHA:247790","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sobrecarga de hierro ligada a fth1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"sobrecarga de hierro ligada a fth1","Spanish_GARD_Synonym__c":"sobrecarga de hierro asociada a fth1","Category_Linearization__c":"ORPHA:68367","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":"FTH1-related iron overload (Hemochromatosis type 5) is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. FTH1-related iron overload has only been reported in one family from Japan. People in this family who had the disease did not have any symptoms. However, an MRI showed increased levels of iron in the liver, heart, and bone marrow. There were also high levels of iron in the blood. FTH1-related iron overload is caused by genetic changes (genetic changes or pathogenic variants) to the FTH1 gene. The disease is inherited in an autosomal dominant manner. Because FTH1-related iron overload is so rare, the disease may not be suspected until signs are seen on an MRI, liver biopsy, or a blood test. The diagnosis may be confirmed with genetic testing.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"ferritin heavy chain 1-related iron overload; fth1 (ferritin heavy chain 1) related iron overload; fth1 hereditary hemochromatosis; fth1-associated iron overload; fth1-related iron overload; hereditary hemochromatosis caused by mutation in fth1; hfe5; iron overload, autosomal dominant","Name":"Hemochromatosis type 5","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.org/"},{"Account_Name__c":"Haemochromatosis Australia","Website__c":"https://haemochromatosis.org.au/"},{"Account_Name__c":"Canadian Hemochromatosis Society","Website__c":"https://www.toomuchiron.ca"},{"Account_Name__c":"Haemochromatosis UK","Website__c":"https://www.haemochromatosis.org.uk/"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:247790"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013472","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111031","Source__c":"MONDO:0014225","Xref__c":"DOID:0111031"},{"URL__c":"https://www.orpha.net/en/disease/detail/247790","Source__c":"C1851316; MONDO:0014225; ORPHA:247790","Xref__c":"ORPHA:247790"},{"URL__c":"https://www.omim.org/entry/615517","Source__c":"C1851316; MONDO:0014225; ORPHA:247790","Xref__c":"OMIM:615517"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565020","Source__c":"MONDO:0014225","Xref__c":"C565020"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1851316","Source__c":"C1851316","Xref__c":"C1851316"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341982","Source__c":"C1851316","Xref__c":"MEDGEN:341982"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014225","Source__c":"GARD:0013472","Xref__c":"MONDO:0014225"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1230310007","Source__c":"C1851316","Xref__c":"1230310007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FTH1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615517","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of ferritin in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003281","HPO_Synonym__c":"Elevated serum ferritin; High ferritin level; Hyperferritinaemia; Hyperferritinemia; Increased ferritin; Increased plasma ferritin; Increased serum ferritin level","HPO_Name__c":"Increased circulating ferritin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615517","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An above normal level of saturation of serum transferrin with iron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012463","HPO_Name__c":"Elevated transferrin saturation","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615517","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased level of iron in liver tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012465","HPO_Synonym__c":"Increased iron concentration in liver; Increased liver iron level","HPO_Name__c":"Elevated hepatic iron concentration","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615517","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of iron in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003452","HPO_Synonym__c":"Increased serum iron","HPO_Name__c":"Increased circulating iron concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology"]},"synonyms":["ferritin heavy chain 1-related iron overload"," fth1 (ferritin heavy chain 1) related iron overload"," fth1 hereditary hemochromatosis"," fth1-associated iron overload"," fth1-related iron overload"," hereditary hemochromatosis caused by mutation in fth1"," hfe5"," iron overload, autosomal dominant"]}