• Chromosome
  • Cytosolic 5'-nucleotidase 3 (NTC53), also known as cytosolic 5'-nucleotidase 3A, pyrimidine 5'-nucleotidase (PN-I or P5'NI), and p56, is an enzyme that in humans is encoded by the NT5C3, or NT5C3A, gene on chromosome 7. (wikipedia.org)
  • The C region genes are clustered downstream of the V region genes within the heavy chain locus on chromosome 14. (genecards.org)
  • Human CPOX is a mitochondrial enzyme encoded by a 14 kb CPOX gene containing seven exons located on chromosome 3 at q11.2. (wikipedia.org)
  • PGM3 is a 29 kb gene with 14 exons, mapping to chromosome 6q14.1-q14.2 and encoding a 542 amino acid protein that serves as the crucial catalyst for the glycosylation pathway Protein PGM3 is required for the reversible conversion of GlcNAc-6-phosphate (GlnNAc-6-P) to GlnNAc-a-phosphate (GlcNac-1-P), a precursor step for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc). (wikipedia.org)
  • In 2010, Hill et al analyzed the sex-determining region Y gene (SRY) and the Y chromosome short tandem repeat "DYS14" in cffDNA from 511 pregnancies using a quantitative real-time PCR (RT-qPCR). (wikipedia.org)
  • Molecular
  • Similarly, breed predispositions have been recognized for certain hematologic immune-mediated diseases (immune-mediated hemolytic anemia in Cocker Spaniels) and hematopoietic cancers ( lymphoma in Golden retrievers and malignant histiocytosis in Bernese Mountain dogs) without knowing the molecular basis. (vin.com)
  • Rather discussing all forms of blood diseases this session will concentrate on a few hereditary disorders that cause anemia in companion animals and have been characterized from the clinical signs to the molecular defect. (vin.com)
  • In fact, some anemias have been so extensively characterized that the clinical signs to the molecular basis of the erythrocyte defect are known, thereby offering an opportunity to make a precise diagnosis in clinical practice and to prevent these disorders in future generations. (vin.com)
  • patients
  • Anemia and chronic heart failure are frequent comorbidities in geriatric patients. (readbyqxmd.com)
  • Patients with CKD exhibit a high incidence of symptomatic and occult cerebrovascular diseases, associated tremendously high levels of inflammatory factors and homocysteine, as well as anemia, hypertension, and diabetes. (readbyqxmd.com)
  • Patients with HPP tend to experience severe haemolysis and anaemia in infancy that gradually improves, evolving toward typical elliptocytosis later in life. (wikipedia.org)
  • Because glycosylation is known to be critical for numerous immune-related proteins, these patients likely present with additional abnormalities including neutropenia, hemolytic anemia, hepatosplenomegaly, and neutropenia. (wikipedia.org)
  • Syndrome
  • Diseases associated with CFI include Complement Factor I Deficiency and Hemolytic Uremic Syndrome, Atypical 3 . (genecards.org)
  • Consistent with historical literature, following sufficient exposure to relatively high airborne concentrations and years of exposure, the SHS concluded that exposure to benzene resulted in an increased risk of various blood and bone marrow abnormalities such as benzene poisoning, aplastic anemia (AA), myelodysplastic syndrome (MDS), and acute myeloid leukemia (AML). (readbyqxmd.com)
  • An important gene associated with Acquired Von Willebrand Syndrome is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization . (malacards.org)
  • Some of the genetic disorders endemic to the Arab world are: hemoglobinopathy, sickle cell anemia, glucose-6-phosphate dehydrogenase deficiency, and fragile X syndrome (FXS), which is an inherited genetic condition with critical consequences. (wikipedia.org)
  • Bare lymphocyte syndrome high in western Arabic block Morocco, type II Limb-girdle muscular dystrophy, type 2C in Libya, Hemolytic-uremic syndrome in Saudia, Ankylosing spondylitis in Egypt &East block, Alpha-thalassemia in all countries minus Egypt Syria Iraq, Cystic Fibrosis in Iraq Saudi Yemen Libya Morocco, Familial Mediterranean Fever fmf in east block and Libya Morocco, beta Thalassemia in all countries, g6dh deficiency all countries. (wikipedia.org)
  • Mutation in DOCK8 Gene is associated with the autosomal recessive form of Job's syndrome or hyper-IgE Syndrome. (wikipedia.org)
  • It can also be classified as a type of autosomal recessive hyperimmunoglobulinemia E syndrome. (wikipedia.org)
  • in 2010 and titled Joint contractures, Muscular Atrophy, Microcytic anemia, and Panniculitis-induced Lipodystrophy (JMP) syndrome. (wikipedia.org)
  • Recessive refers to each affected person needs two copies of the abnormal gene-one copy from each parent-to develop the syndrome. (wikipedia.org)
  • Diseases
  • Diseases associated with HK1 include Hemolytic Anemia Due To Hexokinase Deficiency and Neuropathy, Hereditary Motor And Sensory, Russe Type . (genecards.org)
  • 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 57Disease definitionGlycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. (malacards.org)
  • These diseases were traditionally classified under non-HFE hemochromatosis, but recently the identification of new iron genes has made it possible to distinctly identify these disorders. (karger.com)
  • Inherited hemolytic anemias (IHAs) are genetic diseases that present with anemia due to the increased destruction of circulating abnormal RBCs. (bloodresearch.or.kr)
  • corneal
  • We here report a 34 year-old lady who presented with hypertension, nephrotic proteinuria, renal failure, corneal ring opacities, anemia and dyslipidemia. (readbyqxmd.com)
  • enzyme
  • Coproporphyrinogen-III oxidase, mitochondrial (abbreviated as CPOX) is an enzyme that in humans is encoded by the CPOX gene. (wikipedia.org)
  • PGM3 is an enzyme which in humans is encoded by gene PGM3. (wikipedia.org)
  • oxidative
  • The mutated gene results in proteins not being degraded and oxidative proteins building up in cellular tissues, eventually leading to apoptosis, especially in muscle and fat cells. (wikipedia.org)
  • Disease
  • A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.Visit the Orphanet disease page for more resources. (malacards.org)
  • An important gene associated with Glycogen Storage Disease Xii is ALDOA (Aldolase, Fructose-Bisphosphate A), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Pentose phosphate pathway . (malacards.org)
  • Iron deficiency anemia is a common clinical consequence for people who suffer from chronic kidney disease, especially those requiring dialysis. (readbyqxmd.com)
  • The pathogenesis of chronic kidney disease associated anemia is multifactorial and includes decreased production of erythropoietin (EPO), iron deficiency, inflammation, and EPO resistance. (readbyqxmd.com)
  • The hemojuvelin and hepcidin genes are implicated in causing juvenile hemochromatosis, transferrin receptor 2 gene mutation causes type 3 hemochromatosis, and ferroportin gene mutation leads to ferroportin disease. (karger.com)
  • However, it is much more important to control further spread of the disease causing gene by screening breeding animals when tests are available. (vin.com)
  • Despite the fact that little is known about the cellular role of Dock8 its importance has been highlighted in several studies which have identified disruption of the DOCK8 gene in disease. (wikipedia.org)
  • Typically, both parents of an affected child carry one abnormal gene and are unaffected by the disease. (wikipedia.org)
  • When both parents have one abnormal copy of the PGM3 gene, each child has a 25 percent chance of being affected by the disease. (wikipedia.org)
  • RefSeq
  • provided by RefSeq, Mar The NT5C3 gene consists of 10 exons and can be alternatively spliced at exon 2. (wikipedia.org)
  • RBCs
  • Anemia develops when either blood loss, a slow-down in the production of new RBCs (erythropoiesis), or an increase in red cell destruction (hemolysis) causes significant reductions in RBCs, Hgb, iron levels, and the essential delivery of oxygen to body tissues. (encyclopedia.com)
  • bone marrow
  • Experimental allogeneic bone marrow transplantation can correct defective blood cells and gene therapy has been attempted. (vin.com)
  • cause
  • In approximately one third of older adults the cause of the anemia is an iron, vitamin B12 and/or folate deficiency and in another third a chronic inflammatory process is present. (readbyqxmd.com)
  • They are particularly germane differential diagnoses in animals with Coombs' negative hemolytic anemias without apparent cause. (vin.com)
  • Hexokinase
  • HK1 (Hexokinase 1) is a Protein Coding gene. (genecards.org)
  • Genes that encode hexokinase have been discovered in every domain of life, and exist among a variety of species that range from bacteria, yeast, and plants to humans and other vertebrates. (wikipedia.org)