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111 Possible Causes for Congenital Nonspherocytic Hemolytic Anemia, Hyperuricemia

  • Hereditary Spherocytosis

    OBJECTIVES: In order to investigate the pathophysiology of erythrocyte membrane proteins, 10 patients (6 pre- and 4 post-splenectomy) with hereditary spherocytosis (HS) and other patients with haemolytic anaemia were examined. METHODS: The membrane proteins were analysed by biochemical and mass spectrometry.[…][ncbi.nlm.nih.gov]

  • Autoimmune Hemolytic Anemia

    Wadsworth, Hyperuricemia and Reticulocytopenia in Association With Autoimmune Hemolytic Anemia in Two Children, American Journal of Clinical Pathology, 10.1309/8DXD-VJT9-UN60[doi.org]

  • Glycogen Storage Disease Type 1

    All had hyperuricemia except for one patient with glycogenosis type III.[scholars.northwestern.edu] GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia and short stature.[mayoclinic.pure.elsevier.com] Other features include lactic acidosis, hyperlipidemia, hyperuricemia, and hypoglycemic seizures.[xpertdox.com]

  • Hemolytic Anemia due to a Disorder of Glycolytic Enzymes

    HGPRT (converts hypoxanthine to IMP and guanine to GMP) X-linked recessive leads to excess uric acid production Findings include retardation, self mutilation, aggression, hyperuricemia[quizlet.com] Summary Epidemiology PK deficiency is the most frequent cause of congenital nonspherocytic hemolytic anemia with a prevalence estimated at 1/20,000 in the general white population[orpha.net] In GSD, many laboratory abnormalities are present including anemia, neutropenia, hyperuricemia, hypercholesterolemia, and hypertriglyceridemia.[cancertherapyadvisor.com]

  • Waters-West Syndrome

    […] combined 3 Calabro syndrome Familial glucocorticoid deficiency Chromosome 2q24 microdeletion syndrome Maffucci syndrome Autosomal dominant medullary cystic kidney disease with hyperuricemia[checkrare.com] MalaCards based summary : Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities, is also known as hemolytic anemia lethal congenital nonspherocytic[malacards.org] […] angle, adult-onset ( CYP1B1) Glaucoma, primary open angle, juvenile-onset ( CYP1B1) Globozoospermia ( GOPC) Globozoospermia ( SPATA16) Glomerulocystic kidney disease with hyperuricemia[en.praenatal-medizin.de]

  • Glucose-6-Phosphate Dehydrogenase Deficiency

    Pubmed and Google Scholar using the following key words: "methemoglobinemia", "rasburicase", "urate oxidase", tumor lysis syndrome", G6PD deficiency", "hemolytic anemia" and "hyperuricemia[ncbi.nlm.nih.gov] .: Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: A new variant (type Nordhorn). II.[link.springer.com] Laboratory test results revealed sustained hyperuricemia, which was believed to be due in part to tumor lysis, and a single dose of rasburicase 6 mg i.v. was administered.[ncbi.nlm.nih.gov]

  • Hexokinase Deficiency

    […] phosphate is shunted into alternative pathways resulting in 3 major metabolic consequences: [2] Hyperlacticacidemia, which develops as a byproduct of enhanced glycolysis Hyperuricemia[online.epocrates.com] The findings were entirely different from those of subsequently reported cases with congenital, nonspherocytic hemolytic anemia associated only with a specific deficiency[jamanetwork.com] , Adenine accumulates and its conversion to Uric acid increases (recall that in the catabolism of purines adenine and Guanine become Uric Acid), and the patient presents Hyperuricemia[biochemistryquestions.wordpress.com]

  • Glycogen Storage Disease due to Phosphoglycerate Kinase 1 Deficiency

    […] phosphate is shunted into alternative pathways resulting in 3 major metabolic consequences: [2] Hyperlacticacidemia, which develops as a byproduct of enhanced glycolysis Hyperuricemia[online.epocrates.com] , Hemolytic, Congenital Nonspherocytic Genetic Diseases, X-Linked Kidney Diseases Glycogen Storage Disease Type VII Multiple Acyl Coenzyme A Dehydrogenase Deficiency Genetic[clinicaltrials.gov] […] blocks Post-prandial hyperglycemia Lactic acidosis Hepatomegaly (with hepatic adenomas ) Severe fasting hypoglycemia, mild ketosis Severe hyperlipidemia doll-like facies Hyperuricemia[amboss.com]

  • Generalized Epilepsy with Febrile Seizures Plus

    Disease, Glycogen Storage Disease Type 1B, Tendinitis, Ocular Hypertension, Juvenile Hereditary Hemochromatosis, Favism, Hepatocellular Adenoma, Glycogen Storage Disease I, Hyperuricemia[genecards.weizmann.ac.il] , Congenital Nonspherocytic Hemolytic Anemia, Boutonneuse Fever, Plasmodium Vivax Malaria, Priapism, Thalassemia, Autoimmune Hemolytic Anemia, Lysinuric Protein Intolerance[genecards.weizmann.ac.il] Nonspherocytic Hemolytic Anemia, Hydrops Fetalis, Enamel Erosion, Hemolytic Anemia, Dentine Erosion, Root Caries Primary Hyperoxaluria Show all 9 GPIHBP1 glycosylphosphatidylinositol[genecards.weizmann.ac.il]

  • Cystic Kidney Disease

    UMOD , encoding uromodulin or Tamm-Horsfall protein, has been identified as responsible of the disease) with earlier end-stage renal disease (around 32 years) often with hyperuricemia[orpha.net] […] amaurosis AD/AR 18 214 HARS Usher syndrome AR 6 10 HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency AD/AR 5 8 HMX1 Oculoauricular syndrome AR 3 2 IDH3B[blueprintgenetics.com] […] segmental glomerulosclerosis, LAMA5 related LAMA5 FSH releasing protein deficiency INHBA Gilbert syndrome UGT1A1 Gitelman syndrome SLC12A3 Glomerulocystic kidney disease with hyperuricemia[centogene.com]

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