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false }, "reports": [ { "slug": "hemochromatosis", "name": "Hemokromatoosi", "diseases": [ { "mondoId": "MONDO:0006507", "name": "Perinnöllinen hemokromatoosi", "genes": 6, "inheritance": null, "description": "Perinnöllinen aineenvaihduntasairaus, jolle on ominaista raudan kertyminen kudoksiin.", "management": "Flebotomia, rautakelaatio, rautaa rajoittava ruokavalio, sukulaisten seulonta", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/hemochromatosis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "occasional", "url": 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"abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count" }, { "slug": "decreased-circulating-hepcidin-concentration", "name": "Decreased circulating hepcidin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-hepcidin-concentration" }, { "slug": "decreased-qrs-voltage", "name": "Decreased QRS voltage", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-qrs-voltage" }, { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diabetes-mellitus" }, { "slug": "impotence", "name": "Difficulty getting a full erection", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impotence" }, { "slug": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "elevated-circulating-iron-concentration", "name": "Elevated circulating iron concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-iron-concentration" }, { "slug": "increased-circulating-ferritin-concentration", "name": "Elevated serum ferritin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration" }, { "slug": "elevated-transferrin-saturation", "name": "Elevated transferrin saturation", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-transferrin-saturation" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "hepatic-fibrosis", "name": "Hepatic fibrosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatic-fibrosis" }, { "slug": "hepatocellular-carcinoma", "name": "Hepatocellular carcinoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatocellular-carcinoma" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "hypogonadotropic-hypogonadism", "name": "Hypogonadotropic hypogonadism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism" }, { "slug": "elevated-hepatic-iron-concentration", "name": "Increased iron concentration in liver", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-hepatic-iron-concentration" }, { "slug": "atrioventricular-block", "name": "Interruption of electrical communication between upper and lower chambers of heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrioventricular-block" }, { "slug": "arthralgia-arthritis", "name": "Joint pain/Joint inflammation", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arthralgia-arthritis" }, { "slug": "asthenia", "name": "Lack of energy and strength", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/asthenia" }, { "slug": "decreased-total-neutrophil-count", "name": "Low blood neutrophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/anemia" }, { "slug": "osteoarthritis-of-the-small-joints-of-the-hand", "name": "Osteoarthritis of the small joints of the hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteoarthritis-of-the-small-joints-of-the-hand" }, { "slug": "hyperpigmentation-of-the-skin", "name": "Patchy darkened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin" }, { "slug": "progressive-hyperpigmentation", "name": "Progressive hyperpigmentation", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/progressive-hyperpigmentation" }, { "slug": "cirrhosis", "name": "Scar tissue replaces healthy tissue in the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cirrhosis" } ], "related": [ { "slug": "cybrd1", "symbol": "CYBRD1", "name": "cytochrome b reductase 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/cybrd1" }, { "slug": "hamp", "symbol": "HAMP", "name": "hepcidin antimicrobial peptide", "shared": 1, "url": "https://dantelabs.com/fi/genes/hamp" }, { "slug": "hfe", "symbol": "HFE", "name": "homeostatic iron regulator", "shared": 1, "url": "https://dantelabs.com/fi/genes/hfe" }, { "slug": "hjv", "symbol": "HJV", "name": "hemojuvelin BMP co-receptor", "shared": 1, "url": "https://dantelabs.com/fi/genes/hjv" }, { "slug": "slc40a1", "symbol": "SLC40A1", "name": "solute carrier family 40 member 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/slc40a1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }