Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:pyridoxamine 5'-phosphate oxidase deficiency
go back to main search page
Accession:DOID:0111329 term browser browse the term
Definition:A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. (DO)
Synonyms:exact_synonym: PNPO Deficiency;   PNPO-Related Neonatal Epileptic Encephalopathy;   PNPOD;   Pyridoxal 5'-Phosphate-Dependent Epilepsy;   Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency;   Pyridoxine-5'-Phosphate Oxidase Deficiency;   pyridoxal phosphate-dependent seizures;   pyridoxal phosphate-responsive seizures;   pyridoxamine 5'-oxidase deficiency;   pyridoxine-resistant seizures, PLP-sensitive
 primary_id: MESH:C566449
 alt_id: OMIM:610090;   RDO:0014800
 xref: GARD:10730;   ORDO:79096
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
pyridoxamine 5'-phosphate oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpo pyridoxamine 5'-phosphate oxidase JBrowse link 10 84,874,926 84,881,190 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15608
    Nutritional and Metabolic Diseases 4389
      disease of metabolism 4389
        Metabolic Brain Diseases 482
          pyridoxamine 5'-phosphate oxidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 15608
    disease of anatomical entity 14965
      nervous system disease 10397
        central nervous system disease 8545
          brain disease 7901
            cerebrovascular disease 799
              brain ischemia 520
                Hypoxia-Ischemia, Brain 80
                  pyridoxamine 5'-phosphate oxidase deficiency 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.