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8,566 Possible Causes for Anemia, Mutations in the Cystinosis Gene, Subsarcolemmal Accumulation of Normal Mitochondria

  • Juvenile Cystinosis

    […] extrapyramidal signs ( dystonia, spasticity ) Gouty arthritis, urate nephropathy Aggression, self-injurious behavio r Renal failure Diagnostics Hyperuricemia Megaloblastic anemia[amboss.com] Genatlas disease for CTNS Gene cystinosis,infantile,nephropathic type Additional Disease Information for CTNS A novel gene encoding an integral membrane protein is mutated[genecards.org] Laboratory investigations Value Remarks Haemoglobin 9.8 gm/dl Total leucocyte count 14300 cells/cmm Platelet count 324000 cells/cmm Peripheral smear Normocytic normochromic anemia[jcdr.net]

  • Pancytopenia

    Pancytopenia is most commonly seen in aplastic anemia. In aplastic anemia, our immune system attacks the healthy cells of bone marrow.[differencebetween.net] Cystinosis is a rare metabolic genetic disorder caused by a mutation in the cystinosin lysosomal cystine transporter gene.[ncbi.nlm.nih.gov] In present study dimorphic anemia was seen in majority of cases, very few cases showed normocytic hypochromic anemia.[njlm.net]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Cystic Fibrosis

    Female sex and chronic anemia were independent predictors of readmission.[ncbi.nlm.nih.gov] This effect has subsequently been demonstrated in a number of models of other diseases caused by stop mutations, including muscular dystrophy, 15 Hurler's syndrome, 16 cystinosis[doi.org] Additional resources: American Sickle Cell Anemia Association Genetics Home Reference: Sickle Cell Anemia MEDLINEplus: Sickle Cell Anemia UK : NHS Sickle Cell & Thalassaemia[who.int]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Vitamin B12 Deficiency

    Anemia may make you feel tired, weak, and short of breath. What Causes Vitamin B12 Deficiency Anemia?[webmd.com] Pernicious anemia. N Engl J Med 1997 ;337: 1441 – 8. Google Scholar Crossref Medline 13. Chatta, GS, Lipschitz, DA. Anemia.[doi.org] When you don't have enough, you have a type of vitamin B12 deficiency anemia called “pernicious anemia.”[webmd.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Primary Hyperoxaluria

    Erythropoietin-resistant anemia and hypothyroidism were thought to be due to accumulation of oxalate in the bone marrow and thyroid gland, respectively.[ncbi.nlm.nih.gov] Type 1 hyperoxaluria ( 1-9/1000000, ORPHA93598) is induced by a liver peroxisomal deficiency secondary to alanine glyoxylate aminotransferase gene mutations [ 53 ].[ojrd.biomedcentral.com] The term "infantile oxalosis" is used to describe the triad of anemia, failure to thrive, and acidosis in infants with this condition.[symptoma.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Malnutrition

    Blood tests for anemia, electrolytes, calcium, phosphorus, magnesium, ferritin, vitamin B 12 , and folate should be considered for assessment of major micronutrients.[ncbi.nlm.nih.gov] If she is malnourished the baby risks being stunted, which can happen when anemia and malnutrition is combined.[hemocue.com] Symptoms: Some of the major symptoms include weight loss, fatigue, retarded growth, anemia, and developmental delay.[symptoma.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Autosomal Dominant Myoglobinuria

    1 3 Diamond-Blackfan Anemia 10 2 Diamond-Blackfan Anemia 11 3 Diamond-Blackfan Anemia 12 3 Diamond-Blackfan Anemia 3 2 Diamond-Blackfan Anemia 4 2 Diamond-Blackfan Anemia[preventiongenetics.com] In addition, COX can highlight the subsarcolemmal accumulations of mitochondria.[neupsykey.com] […] in the HNF4A gene ( OMIM ) on chromosome 20q13.[mendelian.co]

  • Cystinosis

    The patient was admitted to our hospital because of hepatomegaly, anemia, and thrombocytopenia and underwent a trephine bone marrow biopsy based on a preliminary diagnosis[ncbi.nlm.nih.gov] Patients with less severe cystinosis gene mutations tend to have better kidney outcome.[cjasn.asnjournals.org] Clinically, the patient had complications of cystinosis with eye damage, thyroid failure, anemia, impairment of the renal transplant and cognitive disorders since adolescence[em-consulte.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Anemia

    Such types include sickle cell anemia, thalassemia and aplastic anemia. Anemia that results from aortic rupture has a very poor prognosis with about 80% mortality rate.[symptoma.com] , neoplasia) Sideroblastic anemia (e.g. hereditary, lead poisoning) Normocytic anemia (MCV 82-98 fL) Nutritional anemia (iron deficiency, cobalamin y/o folate) Anemia of renal[dx.doi.org] anemia Renal anemia Chronic diseases ( Anemia of Chronic Disease (ACD)) Tumors ( tumor anemia ) Infection Immune deficiency (e.g. autoimmune hemolytic anemia ) Bleeding ([flexikon.doccheck.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Iron Deficiency

    […] did not reveal any findings indicating the cause of the anemia.[ncbi.nlm.nih.gov] Go to Anemia, Sideroblastic Anemias, and Chronic Anemia for complete information on these topics.[emedicine.com] There are more than 400 types of anemia, which are divided into three groups: Anemia caused by blood loss Anemia caused by decreased or faulty red blood cell production Anemia[webmd.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria

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