- Hypogonadotropic hypogonadism (HP:0000044, a Human Phenotype Ontology term): Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). Evidence: IEA. (OMIM:235200)
- Pleural effusion (HP:0002202, a Human Phenotype Ontology term): The presence of an excessive amount of fluid in the pleural cavity. Evidence: IEA. (OMIM:235200)
- Alopecia (HP:0001596, a Human Phenotype Ontology term): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: IEA. (OMIM:235200)
- Elevated circulating iron concentration (HP:0003452, a Human Phenotype Ontology term): The concentration of iron cation in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:235200)
- Amenorrhea (HP:0000141, a Human Phenotype Ontology term): Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. Evidence: IEA. (OMIM:235200)
- Cirrhosis (HP:0001394, a Human Phenotype Ontology term): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: IEA. (OMIM:235200)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: IEA. (OMIM:235200)
- Arrhythmia (HP:0011675, a Human Phenotype Ontology term): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: IEA. (OMIM:235200)
- Diabetes mellitus (HP:0000819, a Human Phenotype Ontology term): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: IEA. (OMIM:235200)
- Osteoporosis (HP:0000939, a Human Phenotype Ontology term): 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). Evidence: IEA. (OMIM:235200)
- Telangiectasia (HP:0001009, a Human Phenotype Ontology term): Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. Evidence: IEA. (OMIM:235200)
- Hyperpigmentation of the skin (HP:0000953, a Human Phenotype Ontology term): A darkening of the skin related to an increase in melanin production and deposition. Evidence: IEA. (OMIM:235200)
- Elevated circulating hepatic transaminase concentration (HP:0002910, a Human Phenotype Ontology term): 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. Evidence: IEA. (OMIM:235200)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: IEA. (OMIM:235200)
- Hepatocellular carcinoma (HP:0001402, a Human Phenotype Ontology term): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: IEA. (OMIM:235200)
- Ascites (HP:0001541, a Human Phenotype Ontology term): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: IEA. (OMIM:235200)
- Cardiomegaly (HP:0001640, a Human Phenotype Ontology term): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: IEA. (OMIM:235200)
- Arthropathy (HP:0003040, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:235200)
- Increased circulating ferritin concentration (HP:0003281, a Human Phenotype Ontology term): Increased concentration of ferritin in the blood circulation. Evidence: IEA. (OMIM:235200)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:235200)
- Testicular atrophy (HP:0000029, a Human Phenotype Ontology term): Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. Evidence: IEA. (OMIM:235200)
- Congestive heart failure (HP:0001635, a Human Phenotype Ontology term): 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. Evidence: IEA. (OMIM:235200)
- Impotence (HP:0000802, a Human Phenotype Ontology term): Inability to develop or maintain an erection of the penis. Evidence: IEA. (OMIM:235200)
- Cardiomyopathy (HP:0001638, a Human Phenotype Ontology term): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: IEA. (OMIM:235200)
- Abdominal pain (HP:0002027, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. (OMIM:235200)
- Azoospermia (HP:0000027, a Human Phenotype Ontology term): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: IEA. (OMIM:235200)
- Glucose intolerance (HP:0001952, a Human Phenotype Ontology term): Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). Evidence: TAS. (OMIM:235200)
These phenotypes are associated with the disease hemochromatosis type 1 (OMIM:235200, an entry in Online Mendelian Inheritance in Man).