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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 ...
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.
XLP syndrome X-linked lymphoproliferative syndrome (see Duncan Disease) XLSA X-linked sideroblastic anemia: XMEA X-linked myopathy with excessive autophagy: XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia XP Xeroderma pigmentosa: XSCID X-linked severe combined immunodeficiency: XXX syndrome ...
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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 ...
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 ...
This is an alphabetically sorted list of all mental disorders in the DSM-IV and DSM-IV-TR, along with their ICD-9-CM codes, where applicable. The DSM-IV-TR is a text revision of the DSM-IV. [1] While no new disorders were added in this version, 11 subtypes were added and 8 were removed. This list features both the added and removed subtypes.