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Results 1 - 10 of 691 for I cell disease
  1. Sickle cell disease 
    Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People ...
    https://medlineplus.gov/genetics/condition/sickle-cell-disease - Genetics
  2. Systemic mastocytosis 
    ... body's cells that occurs after conception. Mast cell disease, systemic Mastocytosis, systemic Systemic mast cell disease Systemic mast-cell disease Systemic mastocytoses Systemic tissue ...
    https://medlineplus.gov/genetics/condition/systemic-mastocytosis - Genetics
  3. Mucolipidosis II alpha/beta 
    Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many ... show signs and symptoms of the condition. I-cell disease Inclusion cell disease MLII Mucolipidosis II Mucolipidosis type ...
    https://medlineplus.gov/.../condition/mucolipidosis-ii-alpha-beta - Genetics
  4. Mucolipidosis III alpha/beta 
    ... M, Brem MS, Canfield WM. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics
  5. Moyamoya disease 
    ... another disorder, such as neurofibromatosis type 1, sickle cell disease, or Graves' disease. These individuals are said to ... moyamoya disease. For unknown reasons, people with moyamoya disease have elevated levels of proteins involved in cell and tissue growth, including the growth of blood ...
    https://medlineplus.gov/genetics/condition/moyamoya-disease - Genetics
  6. Thrombocytopenia-absent radius syndrome 
    ... TAR) syndrome: from hemopoietic progenitor to mesenchymal stromal cell disease? Exp Hematol. 2009 Jan;37(1):1-7. doi: 10.1016/j.exphem.2008.09.004. Epub 2008 Nov 22. Citation on PubMed ... Nov 18. Citation on PubMed
    https://medlineplus.gov/.../thrombocytopenia-absent-radius-syndrome - Genetics
  7. Progressive familial intrahepatic cholestasis 
    ... called bile. The buildup of bile in liver cells causes liver disease in affected individuals.Signs and symptoms of PFIC ... of bile acids in liver cells, damaging these cells and causing liver disease. The ATP8B1 protein is found throughout the body, ...
    https://medlineplus.gov/...ressive-familial-intrahepatic-cholestasis - Genetics
  8. Systemic lupus erythematosus 
    ... means both copies of the gene in each cell have disease-causing variants. The parents of an individual with ...
    https://medlineplus.gov/.../condition/systemic-lupus-erythematosus - Genetics
  9. CLN1 disease 
    ... cell materials. Early and widespread loss of nerve cells in CLN1 disease leads to severe signs and symptoms and death ... substances to accumulate in lysosomes and cause nerve cell death, the signs and symptoms of CLN1 disease in these individuals occur later in life. PPT1 ...
    https://medlineplus.gov/genetics/condition/cln1-disease - Genetics
  10. X-linked lymphoproliferative disease 
    ... to the symptomatology of the X linked lymphoproliferative disease. Cell Cycle. 2009 Oct 1;8(19):3086-90. ... JJ, Lenardo MJ. Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency. J Clin Invest. 2009 ...
    https://medlineplus.gov/.../x-linked-lymphoproliferative-disease - Genetics
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