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This mutation is associated with diverse health issues, however H63D syndrome is the only known specific expression of a homozygous HFE-H63D mutation to date. The homozygous HFE-H63D mutation is the cause of classic and treatable hemochromatosis in only 6.7% of its carriers. [ 25 ]
Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
Supernumerary nipples–uropathies–Becker's nevus syndrome; Supernumerary phantom limb; Survivor syndrome; Susac's syndrome; Sweet's syndrome; Swyer–James syndrome; Syndrome of inappropriate antidiuretic hormone secretion; Syndrome of subjective doubles; Syndrome Without A Name; HHH syndrome; Systemic inflammatory response syndrome; Sézary ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
List of medical symptoms. Medical symptoms refer to the manifestations or indications of a disease or condition, perceived and complained about by the patient. [1] [2] Patients observe these symptoms and seek medical advice from healthcare professionals.
This article provides a list of autoimmune diseases. These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the body. Each disorder is listed with the primary organ or body part that it affects and the associated autoantibodies that are typically found in people diagnosed ...
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.
Acquired immune deficiency syndrome AIP Acute intermittent porphyria: ALA DD Doss porphyria/ALA dehydratase deficiency/Plumboporphyria (the disease is known by multiple names) ALD Alcoholic liver disease: ALI Acute lung injury: ALL Acute lymphoblastic lymphoma, acute lymphocytic leukemia: ALS Amyotrophic lateral sclerosis: AMD Age-related ...