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Results 31 - 40 of 45 for Factor H deficiency
  1. Xeroderma pigmentosum 
    ... WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, Jaspers NG, Sarasin A, Stefanini M, Lehmann AR. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome ...
    https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum - Genetics
  2. Schwartz-Jampel syndrome 
    ... B, Nicole S. Schwartz-Jampel syndrome and perlecan deficiency. Acta Myol. 2005 Oct;24(2):89-92. Citation on PubMed Stum M, Davoine CS, Vicart S, Guillot-Noel L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  3. Common variable immune deficiency 
    ... U, Eibel H, Pfeifer D, Veelken H, Stauss H, Lougaris V, Plebani A, Gertz EM, Schaffer AA, Hammarstrom L, Grimbacher B. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012 Jun ...
    https://medlineplus.gov/.../common-variable-immune-deficiency - Genetics
  4. Corticosteroid-binding globulin deficiency 
    ... DJ, Lundgren BA, Ho JT, Lewis JG, Scott HS, Mericq V. CBG Santiago: a novel CBG mutation. J Clin Endocrinol Metab. 2012 Jan;97(1):E151-5. doi: 10.1210/jc.2011-2022. Epub 2011 Oct 19. Citation on PubMed
    https://medlineplus.gov/...orticosteroid-binding-globulin-deficiency - Genetics
  5. Porphyria 
    Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, ...
    https://medlineplus.gov/genetics/condition/porphyria - Genetics
  6. Tangier disease 
    ... person's risk of cardiovascular disease. All these factors cause the signs and symptoms of Tangier disease. ... M, Matsuyama A, Nakatani K, Inagaki M, Nakaoka H, Kawase R, Yuasa-Kawase M, Tsubakio-Yamamoto K, ...
    https://medlineplus.gov/genetics/condition/tangier-disease - Genetics
  7. Hereditary leiomyomatosis and renal cell cancer 
    ... also acquire mutations as a result of environmental factors such as ... Chronic oxygen deficiency (hypoxia) in cells with two mutated copies of ...
    https://medlineplus.gov/...tary-leiomyomatosis-and-renal-cell-cancer - Genetics
  8. Gray platelet syndrome 
    ... in patients with congenital thrombocytopenia and alpha-granule deficiency. ... Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, ...
    https://medlineplus.gov/genetics/condition/gray-platelet-syndrome - Genetics
  9. Myhre syndrome 
    ... nucleus. This signaling pathway, called the transforming growth factor beta (TGF-β) pathway, allows the environment outside ... S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte- ...
    https://medlineplus.gov/genetics/condition/myhre-syndrome - Genetics
  10. Spinal muscular atrophy 
    ... genes can help make up for the protein deficiency caused by SMN1 gene ... Other factors, many unknown, also contribute to the variable severity ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
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