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H63D syndrome is a very rare clinical phenotype based on a homozygous mutation of the HFE gene.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.
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.
Hypotrichosis–acro-osteolysis–onychogryphosis–palmoplantar keratoderma–periodontitis syndrome; Hypotrichosis–lymphedema–telangiectasia syndrome; Hystrix-like ichthyosis–deafness syndrome
Hoyeraal–Hreidasson syndrome [2] is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita. [ 2 ] [ 3 ] Being an X-linked disorder, Hoyeraal–Hreidasson syndrome primarily affects males.
The exact cause of stiff person syndrome. Experts theorize the symptoms are triggered by an autoimmune reaction in which the immune system attacks a protein called glutamic acid decarboxylase (GAD ...
Livedo reticularis is a common skin finding consisting of a mottled reticulated vascular pattern that appears as a lace-like purplish discoloration of the skin. [1] The discoloration is caused by reduction in blood flow through the arterioles that supply the cutaneous capillaries, resulting in deoxygenated blood showing as blue discoloration ().
Man, 36, Declared Brain Dead Details 'Grueling' Recovery from Locked-In Syndrome: 'I’m Still In Here' (Exclusive) Vanessa Etienne November 6, 2024 at 12:14 PM