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105 Possible Causes for Orotidine 5' Monophosphate, Phosphohydrolase

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  • Hereditary Orotic Aciduria without Megaloblastic Anemia

    Second, uridine-5'-monophosphate is produced from orotidine-5'-monophosphate by ODC.[symptoma.com] They catalyze the final steps in the de novo synthesis of uridine monophosphate. First, OPRT converts orotic acid to orotidine-5'-monophosphate.[symptoma.com]

    Missing: Phosphohydrolase
  • Glycogen Storage Disease due to GLUT2 Deficiency

    Orotic aciduria type I S Uridine monophosphate synthase deficiency Orotic aciduria type II S Orotidine - 5 -phosphate decarboxylase deficiency Pyrimidine - 5 - nucleotidase[studyres.com] […] fructose-1,6-bisphosphatase 1 fructose-1,6-bisphosphatase, Liver fructose-1,6-diphosphatase FBP1 FBP 611570 3606 fructose-bisphosphatase 2 D-fructose-1,6-bisphosphate 1-phosphohydrolase[ukgtn.nhs.uk]

  • Hereditary Orotic Aciduria

    (OPRT) and orotidine-5'-monophosphate decarboxylase (ODC).[ncbi.nlm.nih.gov] UMP synthase is a bifunctional enzyme containing the two activities orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase, which catalyze the two-step[ncbi.nlm.nih.gov] Enzyme studies on hemolysates and cultured fibroblasts from the patient revealed grossly reduced levels of orotidine-5′-monophosphate pyrophosphorylase and decarboxylase.[jamanetwork.com]

    Missing: Phosphohydrolase
  • Disorder of Pyrimidine Metabolism

    Uridine monophosphate is the enzyme that catalyzes orotate phosphoribosyltransferase and orotidine-5 ′ -monophosphate decarboxylase reactions.[merckmanuals.com] 5′-monophosphate decarboxylase (ODC).[obgynkey.com] […] synthase deficiency (hereditary orotic aciduria): This enzyme catalyzes orotate phosphoribosyltransferase and orotidine-5′-monophosphate decarboxylase reactions.[chumy.wordpress.com]

    Missing: Phosphohydrolase
  • PTEN Hamartoma Tumor Syndrome

    * Young Adult Substances FOXP3 protein, human Forkhead Transcription Factors Nuclear Proteins PHLPP1 protein, human Phosphoprotein Phosphatases PTEN Phosphohydrolase PTEN[ncbi.nlm.nih.gov] Indexing Status Subject indexing assigned by CRD MeSH Hamartoma Syndrome, Multiples; PTEN Phosphohydrolase Language Published English Country of organisation United States[crd.york.ac.uk] Adolescent — Adult — Aged — Child — Female — Hamartoma Syndrome, Multiple/genetics/pathology — Humans — Hyperplasia/pathology — Male — Middle Aged — Mutation/genetics — PTEN Phosphohydrolase[archive-ouverte.unige.ch]

    Missing: Orotidine 5' Monophosphate
  • Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

    […] phosphate specific transport system that shuttles G6P from the cytoplasm to the lumen of the endoplasmic reticulum (a G6P translocase), and (2) an enzyme, glucose-6-phosphate phosphohydrolase[en.wikibooks.org] Recently, it was postulated that the G6Pase system contains a phosphate translocase which mediates the efflux of phosphate, in addition to a G6P translocase and a non-specific phosphohydrolase[link.springer.com] […] fructose-1,6-bisphosphatase 1 fructose-1,6-bisphosphatase, Liver fructose-1,6-diphosphatase FBP1 FBP 611570 3606 fructose-bisphosphatase 2 D-fructose-1,6-bisphosphate 1-phosphohydrolase[ukgtn.nhs.uk]

    Missing: Orotidine 5' Monophosphate
  • Dihydropyrimidinuria

    Uridine monophosphate is the enzyme that catalyzes orotate phosphoribosyltransferase and orotidine-5 ′ -monophosphate decarboxylase reactions.[msdmanuals.com] This autosomal recessive disorder results from a severe deficiency of the last two activities in the pathway, orotate phosphoribosyltransferase and orotidine-5′-monophosphate[ommbid.mhmedical.com]

    Missing: Phosphohydrolase
  • Desmoplastic Medulloblastoma

    Medulloblastoma/therapy Mutation Neoplasm Recurrence, Local/genetics Neoplasm Recurrence, Local/pathology Neoplasm Recurrence, Local/therapy Neurosurgical Procedures PTEN Phosphohydrolase[ncbi.nlm.nih.gov] Protein alpha Subunits, Gs Humans Immunotherapy In Situ Hybridization, Fluorescence Male Medulloblastoma Mutation Neoplasm Recurrence, Local Neurosurgical Procedures PTEN Phosphohydrolase[scholars.duke.edu] Receptors Patched-1 Receptor Radiotherapy Receptors, Cell Surface Substances Chromogranins PTCH protein, human Patched Receptors Patched-1 Receptor Receptors, Cell Surface PTEN Phosphohydrolase[ncbi.nlm.nih.gov]

    Missing: Orotidine 5' Monophosphate
  • Disorder of Purine Metabolism

    Uridine monophosphate is the enzyme that catalyzes orotate phosphoribosyltransferase and orotidine-5 ′ -monophosphate decarboxylase reactions.[msdmanuals.com] 5′-monophosphate decarboxylase (ODC).[obgynkey.com] Pyrimidine metabolism. 1, orotic acid phosphoribosyltransferase; 2, orotidine phosphate decarboxylase; 3, dihydropyrimidine dehydrogenase; 4, pyrimidine-5′-nucleotidase, MP[musculoskeletalkey.com]

    Missing: Phosphohydrolase
  • Neurocutaneous Melanocytosis

    View in: PubMed subject areas Apoptosis Benzimidazoles Blotting, Western Brain Neoplasms Cell Proliferation Child Child, Preschool Fluorescent Antibody Technique GTP Phosphohydrolases[profiles.uchicago.edu] . , , , , , , Source MeSH Adolescent Cell Proliferation Child Child, Preschool DNA Mutational Analysis Female GTP Phosphohydrolases Genotype Humans Infant Male Melanocytes[unboundmedicine.com]

    Missing: Orotidine 5' Monophosphate

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