{"Name":"African nutritional hemochromatosis","DiseaseID__c":"GARD:0008495","id":8495,"encodedName":"african-nutritional-hemochromatosis","IsDeleted":false,"Disease_Name_Full__c":"African nutritional hemochromatosis","Xref_IDs__c":"66576001; C0268063; C537904; DOID:0111033; MEDGEN:75649; MONDO:0011012; OMIM:601195; ORPHA:139507","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011012","Disease_Description__c":"A rare disorder described in sub-Saharan African populations and characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.","GARD_Name__c":"African nutritional hemochromatosis","GARD_Synonym__c":"african iron overload; bantu siderosis; iron overload in africa","Curated_Disease_Description_Source__c":"MONDO:0011012","Curated_Disease_Description__c":"African iron overload is a condition that involves absorption of too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the liver, bone marrow, and spleen. Humans cannot increase the excretion of iron, although some iron is lost through bleeding or when cells of the intestine (enterocytes) are shed at the end of the cells' lifespan. Iron levels in the body are primarily regulated through control of how much iron is absorbed from the diet. African iron overload results from a diet high in iron. It is particularly associated with consumption of a traditional African beer that contains dissolved iron from the metal drums in which it is brewed. Some evidence suggests that a genetic predisposition to absorbing too much iron may also be involved. In African iron overload, excess iron typically accumulates primarily in certain immune cells called reticuloendothelial cells. Reticuloendothelial cells include macrophages in the bone marrow and spleen and Kupffer cells, which are specialized macrophages found in the liver that help protect the body against foreign invaders such as viruses and bacteria. Later in the course of the condition, iron also accumulates in liver cells (hepatocytes). This pattern differs from that seen in a similar iron overload disorder called hereditary hemochromatosis, in which the excess iron accumulates primarily in the hepatocytes. When too much iron is absorbed, the resulting iron overload can eventually damage tissues and organs. Iron overload in the liver can lead to chronic liver disease (cirrhosis). Cirrhosis increases the risk of developing a type of liver cancer called hepatocellular carcinoma. Iron overload in immune cells may affect their ability to fight infections. African iron overload is associated with an increased risk of developing infections such as tuberculosis. The excess iron also leads to a faster-than-normal breakdown of vitamin C in the body, so affected individuals are at increased risk of vitamin C deficiency problems such as scurvy. People with African iron overload may have a slightly low number of red blood cells (mild anemia), possibly because the iron that accumulates in the liver, bone marrow, and spleen is less available for production of red blood cells. Affected individuals also have high levels of a protein called ferritin in their blood, which can be detected with a blood test. Ferritin stores and releases iron in cells, and cells produce more ferritin in response to excess amounts of iron.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:139507","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011012","ORPHANET_ID__c":"ORPHA:139507","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sobrecarga de hierro tipo africano","Spanish_Description_Source__c":"ORPHA:139507","Spanish_Description__c":"Es un trastorno poco frecuente descrito en poblaciones africanas subsaharianas que se caracteriza por una sobrecarga de hierro por ingesta excesiva de hierro en la dieta y, posiblemente, por factores genéticos, dando lugar a fibrosis portal hepática y a cirrosis micronodular.","Spanish_Disease_Name__c":"sobrecarga de hierro tipo africano","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:57146","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":"African iron overload is a condition that involves absorption of too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the liver, bone marrow, and spleen. Humans cannot increase the excretion of iron, although some iron is lost through bleeding or when cells of the intestine (enterocytes) are shed at the end of the cells' lifespan. Iron levels in the body are primarily regulated through control of how much iron is absorbed from the diet. African iron overload results from a diet high in iron. It is particularly associated with consumption of a traditional African beer that contains dissolved iron from the metal drums in which it is brewed. Some evidence suggests that a genetic predisposition to absorbing too much iron may also be involved. In African iron overload, excess iron typically accumulates primarily in certain immune cells called reticuloendothelial cells. Reticuloendothelial cells include macrophages in the bone marrow and spleen and Kupffer cells, which are specialized macrophages found in the liver that help protect the body against foreign invaders such as viruses and bacteria. Later in the course of the condition, iron also accumulates in liver cells (hepatocytes). This pattern differs from that seen in a similar iron overload disorder called hereditary hemochromatosis, in which the excess iron accumulates primarily in the hepatocytes. When too much iron is absorbed, the resulting iron overload can eventually damage tissues and organs. Iron overload in the liver can lead to chronic liver disease (cirrhosis). Cirrhosis increases the risk of developing a type of liver cancer called hepatocellular carcinoma. Iron overload in immune cells may affect their ability to fight infections. African iron overload is associated with an increased risk of developing infections such as tuberculosis. The excess iron also leads to a faster-than-normal breakdown of vitamin C in the body, so affected individuals are at increased risk of vitamin C deficiency problems such as scurvy. People with African iron overload may have a slightly low number of red blood cells (mild anemia), possibly because the iron that accumulates in the liver, bone marrow, and spleen is less available for production of red blood cells. Affected individuals also have high levels of a protein called ferritin in their blood, which can be detected with a blood test. Ferritin stores and releases iron in cells, and cells produce more ferritin in response to excess amounts of iron.","Curated_Disease_Description_Source__c":"MONDO:0011012","GARD_Synonym__c":"african iron overload; bantu siderosis; iron overload in africa","Name":"African nutritional hemochromatosis","estimateUsa":""}],"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":"Elderly","Provided_By__c":"ORPHA:139507"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:139507"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111033","Source__c":"MONDO:0011012","Xref__c":"DOID:0111033"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268063","Source__c":"C0268063","Xref__c":"C0268063"},{"URL__c":"https://www.orpha.net/en/disease/detail/139507","Source__c":"C0268063; MONDO:0011012; ORPHA:139507","Xref__c":"ORPHA:139507"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537904","Source__c":"MONDO:0011012","Xref__c":"C537904"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75649","Source__c":"C0268063","Xref__c":"MEDGEN:75649"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=66576001","Source__c":"C0268063; MONDO:0011012","Xref__c":"66576001"},{"URL__c":"https://www.omim.org/entry/601195","Source__c":"C0268063; MONDO:0011012; ORPHA:139507","Xref__c":"OMIM:601195"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011012","Source__c":"GARD:0008495","Xref__c":"MONDO:0011012"},{"URL__c":"https://medlineplus.gov/genetics/condition/african-iron-overload","Source__c":"GARD:0008495","Xref__c":"https://medlineplus.gov/genetics/condition/african-iron-overload"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031035","HPO_Name__c":"Chronic infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012115","HPO_Synonym__c":"Liver inflammation","HPO_Name__c":"Hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The concentration of vitamin C in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100510","HPO_Synonym__c":"Low levels of vitamin C; Vitamin C deficiency","HPO_Name__c":"Decreased circulating vitamin C concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003118","HPO_Synonym__c":"Cushing syndrome; Hypercortisolism; Increased circulating cortisol level; Increased cortisol production","HPO_Name__c":"Increased circulating cortisol level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002614","HPO_Name__c":"Hepatic periportal necrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001402","HPO_Name__c":"Hepatocellular carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hepatic fibrosis that reaches from a portal area to another portal area.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012852","HPO_Name__c":"Hepatic bridging fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the adrenal glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011732","HPO_Synonym__c":"Abnormality of adrenal morphology","HPO_Name__c":"Abnormal adrenal morphology","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001395","HPO_Synonym__c":"Liver fibrosis","HPO_Name__c":"Hepatic fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Steatosis is a term used to denote lipid accumulation within hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001397","HPO_Synonym__c":"Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis","HPO_Name__c":"Hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver due to infection with a virus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006562","HPO_Name__c":"Viral hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011772","HPO_Synonym__c":"Abnormal shape of thyroid gland; Abnormality of thyroid morphology","HPO_Name__c":"Abnormal thyroid morphology","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","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":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012090","HPO_Synonym__c":"Abnormality of pancreas morphology; Abnormally shaped pancreas","HPO_Name__c":"Abnormal pancreas morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of cirrhosis characterized by the presence of small regenerative nodules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001413","HPO_Name__c":"Micronodular cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the peritoneum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002586","HPO_Synonym__c":"Inflammation of the peritoneum","HPO_Name__c":"Peritonitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the genital system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000078","HPO_Synonym__c":"Genital abnormalities; Genital abnormality; Genital anomalies; Genital defects","HPO_Name__c":"Abnormality of the genital system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139507","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:139507","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011459","HPO_Name__c":"Esophageal carcinoma","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"]},"synonyms":["african iron overload"," bantu siderosis"," iron overload in africa"]}