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Results 1 - 10 of 11 for Hemochromatosis type 1
  1. Hereditary hemochromatosis 
    ... worldwide. Mutations in several genes can cause hereditary hemochromatosis. Type 1 hemochromatosis results from mutations in the HFE gene, ... type 3 Hemochromatosis type 4 Symptomatic form of hemochromatosis type 1 National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/.../condition/hereditary-hemochromatosis - Genetics
  2. HFE gene 
    ... 100 mutations in the HFE gene that cause type 1 hemochromatosis, a form of hereditary hemochromatosis that begins during ... particular mutations are responsible for most cases of type 1 hemochromatosis. Each of these mutations changes one of the ...
    https://medlineplus.gov/genetics/gene/hfe - Genetics
  3. TFR2 gene 
    ... and other signs and symptoms of type 3 hemochromatosis. More About This Health Condition ... A, Gasparini P. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet. 2000 May;25(1):14-5. doi: 10.1038/75534. Citation on ...
    https://medlineplus.gov/genetics/gene/tfr2 - Genetics
  4. SLC40A1 gene 
    ... 1):44-9. doi: 10.1136/gut.53.1.44. Citation on PubMed or Free article on PubMed ... J, Ou X. Type 4B hereditary hemochromatosis associated with a novel mutation ...
    https://medlineplus.gov/genetics/gene/slc40a1 - Genetics
  5. HJV gene 
    ... in hereditary hemochromatosis. More About This Health Condition hemochromatosis type 2 (juvenile) HFE2 HFE2A JH RGM domain family, ... of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood. 2004 Jun 1;103(11):4317-21. doi: 10.1182/blood- ...
    https://medlineplus.gov/genetics/gene/hjv - Genetics
  6. Renal tubular dysgenesis 
    ... II attaches (binds) to the angiotensin II receptor type 1 (AT1 receptor; produced from the AGTR1 gene), stimulating ...
    https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis - Genetics
  7. HAMP gene 
    ... 14 mutations in the HAMP gene can cause type 2 hemochromatosis, a form of hereditary hemochromatosis that begins during ... antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet. 2003 Jan;33(1):21-2. doi: 10.1038/ng1053. Epub 2002 ...
    https://medlineplus.gov/genetics/gene/hamp - Genetics
  8. X-linked sideroblastic anemia 
    ... of iron from the diet and result in hemochromatosis, which is another type of iron overload disorder. ALAS2 HFE This condition ... iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. Blood. 1999 Mar 1;93(5):1757-69. Citation on PubMed May ...
    https://medlineplus.gov/.../condition/x-linked-sideroblastic-anemia - Genetics
  9. Porphyria 
    ... it probably ranges from 1 in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the most common type of porphyria. For some forms of porphyria, the ...
    https://medlineplus.gov/genetics/condition/porphyria -
  10. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... MUTYH-associated polyposis Age-related macular degeneration Alpha-1 antitrypsin ... amyloidosis Hereditary thrombophilia: prothrombin thrombophilia and factor ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
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