{"Name":"Juvenile hemochromatosis","DiseaseID__c":"GARD:0010092","id":10092,"encodedName":"juvenile-hemochromatosis","IsDeleted":false,"Disease_Name_Full__c":"Juvenile hemochromatosis","Xref_IDs__c":"50855007; C0268060; C537247; DOID:0111034; MEDGEN:82769; MONDO:0019257; NBK1170; ORPHA:79230","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0019257","Disease_Description__c":"An early-onset and most severe form of rare hemochromatosis characterized by the usual features of hemochromatosis accompanied by cardiomyopathy and hypogonadism.","GARD_Name__c":"Juvenile hemochromatosis","GARD_Synonym__c":"hemochromatosis type 2; hfe2; hjv or hamp-related hemochromatosis; jhh; juvenile hereditary hemochromatosis","Curated_Disease_Description_Source__c":"GARD:0010092","Curated_Disease_Description__c":"Hemochromatosis type 2 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. Symptoms of Hemochromatosis type 2 typically begin during childhood. Early symptoms of Hemochromatosis type 2 typically include liver disease, heart disease, and low levels of sex hormones. Having low levels of sex hormones can cause women to stop having their monthly periods and men to have delayed puberty. Other symptoms may include abdominal pain, diabetes, and skin discoloration. Hemochromatosis type 2 is caused by genetic changes (genetic changes or pathogenic variants) to the HFE2 (HJV) or HAMP genes. The disease is inherited in an autosomal recessive manner. A diagnosis of Hemochromatosis type 2 is suspected when a doctor observes signs and symptoms of the disease. A doctor may decide to order laboratory tests including a liver biopsy, MRI, or blood test. The diagnosis can be confirmed with genetic testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:79230","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019257","ORPHANET_ID__c":"ORPHA:79230","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemocromatosis asociada a los genes hjv o hamp","Spanish_Description_Source__c":"ORPHA:79230","Spanish_Description__c":"Es una forma poco frecuente de hemocromatosis, de inicio precoz y más grave, caracterizada por las manifestaciones habituales de la hemocromatosis asociada a miocardiopatía e hipogonadismo.","Spanish_Disease_Name__c":"hemocromatosis asociada a los genes hjv o hamp","Spanish_GARD_Synonym__c":"hemocromatosis juvenil; hemocromatosis tipo 2","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":"Hemochromatosis type 2 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. Symptoms of Hemochromatosis type 2 typically begin during childhood. Early symptoms of Hemochromatosis type 2 typically include liver disease, heart disease, and low levels of sex hormones. Having low levels of sex hormones can cause women to stop having their monthly periods and men to have delayed puberty. Other symptoms may include abdominal pain, diabetes, and skin discoloration. Hemochromatosis type 2 is caused by genetic changes (genetic changes or pathogenic variants) to the HFE2 (HJV) or HAMP genes. The disease is inherited in an autosomal recessive manner. A diagnosis of Hemochromatosis type 2 is suspected when a doctor observes signs and symptoms of the disease. A doctor may decide to order laboratory tests including a liver biopsy, MRI, or blood test. The diagnosis can be confirmed with genetic testing.","Curated_Disease_Description_Source__c":"GARD:0010092","GARD_Synonym__c":"hemochromatosis type 2; hfe2; hjv or hamp-related hemochromatosis; jhh; juvenile hereditary hemochromatosis","Name":"Juvenile hemochromatosis","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":"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:79230"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:79230"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:79230"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010092","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1170","Source__c":"Gene Review","Xref__c":"NBK1170"},{"URL__c":"https://www.orpha.net/en/disease/detail/79230","Source__c":"MONDO:0019257","Xref__c":"ORPHA:79230"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268060","Source__c":"C0268060","Xref__c":"C0268060"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537247","Source__c":"MONDO:0019257","Xref__c":"C537247"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82769","Source__c":"C0268060","Xref__c":"MEDGEN:82769"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111034","Source__c":"MONDO:0019257","Xref__c":"DOID:0111034"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=50855007","Source__c":"C0268060; MONDO:0019257","Xref__c":"50855007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019257","Source__c":"GARD:0010092","Xref__c":"MONDO:0019257"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HAMP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hamp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HJV","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hjv","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to develop or maintain an erection of the penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000802","HPO_Synonym__c":"Difficulty getting a full erection; Difficulty getting an erection","HPO_Name__c":"Impotence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79230","HPO_Frequency__c":"Occasional (5-29%)","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:79230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased functionality of the gonad.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000135","HPO_Synonym__c":"Decreased activity of gonads","HPO_Name__c":"Hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79230","HPO_Frequency__c":"Frequent (30-79%)","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:79230","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of fibrosis of that part of the liver with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002612","HPO_Synonym__c":"Congenital liver fibrosis; Excessive buildup of connective tissue and scarring of liver at birth","HPO_Name__c":"Congenital hepatic fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007440","HPO_Name__c":"Generalized hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79230","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A function abnormality of the endocrine pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012093","HPO_Name__c":"Abnormality of endocrine pancreas physiology","Feature_System__c":"Endocrine System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003040","HPO_Synonym__c":"Disease of the joints","HPO_Name__c":"Arthropathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79230","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":"ORPHA:79230","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:79230","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the homeostasis (concentration) of iron cation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011031","HPO_Name__c":"Abnormality of iron homeostasis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["hemochromatosis type 2"," hfe2"," hjv or hamp-related hemochromatosis"," jhh"," juvenile hereditary hemochromatosis"]}