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96 Possible Causes for Arthralgia, Mutation in the Hereditary Hemochromatosis Gene

  • Hemochromatosis

    Symptoms greatly vary among patients and include fatigue, abdominal pain, arthralgias, impotence, decreased libido, diabetes, and heart failure.[] Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes.[] […] and its full clinical expression is seen in only a minority of patients. [9] In addition, any patient admitted to the hospital with an isolated case of asthenia or with arthralgia[]

  • Calcium Pyrophosphate Arthropathy

    In addition, induction of transient arthralgias in some patients is a well-recognized adverse effect of MTX [ 18 ], which could have further obscured a potential beneficial[] Causes of CPPD can be divided into: idiopathic hereditary AD pattern; mutation in the ANKH gene which encodes a transmembrane inorganic pyrophosphate transporter secondary[] The most frequently reported adverse effects are diarrhea, back pain, headaches, and arthralgias.[]

  • Pseudogout

    In this case, a 56-year-old caucasian male presented with right sided preauricular swelling, temporomandibular joint arthralgia and restricted mouth opening; he developed[] Causes of CPPD can be divided into: idiopathic hereditary AD pattern; mutation in the ANKH gene which encodes a transmembrane inorganic pyrophosphate transporter secondary[] These joint symptoms include : Pain in the joints (arthralgia) Swelling of the joints Warmth of the joint The symptoms may resolve and a person may be asymptomatic until another[]

  • Primary Hemochromatosis Type 1

    ), and compound heterozygosity was present in 1.3% (43 of 3190 of the control population). [13] According to the EASL, disease penetrance based on symptoms (eg, fatigue, arthralgia[] Have identified at least eight mutations in the HAMP gene that result in juvenile hereditary hemochromatosis or hereditary hemochromatosis type 2.[] Early onset arthralgia, atypical arthropathy. Early onset male impotency, early menopause and loss of libido in women. Early onset arrhythmias and cardiomyopathy.[]

  • Behçet Disease

    Features such as arthralgia and leucocytoclastic vasculitis suggest an immune-complex mediated basis, which is supported by finding circulating immune complexes and, although[] OBJECTIVE: The aim of this work was to establish human leukocyte antigen (HLA) class I and hereditary hemochromatosis gene (HFE) mutation associations with recurrent aphthous[] […] of characteristics, including genetic background, clinical manifestations, and therapeutic strategies, especially the extraintestinal manifestations, such as oral ulcers, arthralgia[]

  • Hereditary Hemochromatosis

    Classic hereditary hemochromatosis is an autosomal recessive disorder caused by mutations in the HFE gene, resulting in increased intestinal iron absorption and iron accumulation[] The gene that causes hereditary hemochromatosis, called HFE, was identified on chromosome 6 in 1996.[] Blood 2014 124:1212-1213; doi: In this issue of Blood, Wu et al describe the molecular function of HFE, the gene most commonly mutated in hereditary hemochromatosis (HH).[]

  • Wilson Disease

    Other late-onset undesirable effects of the drug include a lupus-like syndrome characterized by hematuria, proteinuria, arthralgia, and appearance of antinuclear antibodies[] Mutations in genes encoding ATPase, Cu transporting, beta polypeptide (ATP7B) and hemochromatosis (HFE) or several non-HFE genes are considered to be causative for WD and[] Patients may have osteoporosis or osteomalacia, or they may have joint disorders such as arthritis or arthralgias.[]

  • Primary Hyperoxaluria

    mutations.[] PubMed Central PubMed Google Scholar Hudec M, Grigerova M, Walsh CH: Secondary hypothyroidism in hereditary hemochromatosis: recovery after iron depletion.[] Dumitrescu AM, Liao XH, Bin-Abbas B, Hoeflich J, Köhrle J, Refetoff S: Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene[]

  • Stickler Syndrome Type 2

    HEREDITARY HEMOCHROMATOSIS (3 MUTATIONS) CPT CODE: 81256 HEREDITARY HEMOCHROMATOSIS (KNOWN MUTATION) CPT CODE: 81400 Go to top HUNTINGTON DISEASE GENE: HTT (huntingtin) CHROMOSOMAL[] Hereditary hemochromatosis (HHC) may be detected using direct DNA analysis.[] One mutation (C282Y) and two polymorphisms (H63D, S65C) account for approximately 95% of all hemochromatosis alleles in the HFE gene.[]

  • Drug-induced Toxic Hepatitis

    Usually, the onset is abrupt, with chills, fever, rash, pruritis, arthralgia, anorexia, and nausea.[] Conclusions: The prevalence of the HFE gene mutations associated with hereditary hemochromatosis is very increased among subjets with drug-induced hepatotoxicity.[] […] dose-dependent Liver injury may occur during or shortly after exposure to the drug Isoniazid, phenytoin, statins, oral contraceptives Extrahepatic manifestations: rash, fever, arthralgia[]

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