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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:pyridoxine-dependent epilepsy
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Accession:DOID:0080768 term browser browse the term
Definition:An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. (DO)
Synonyms:exact_synonym: Aasa dehydrogenase deficiency;   EPD;   PDE;   Pyridoxine dependency;   pyridoxine dependency with seizures;   pyridoxine-dependent seizures;   vitamin B6-dependent seizures
 primary_id: MESH:C536254
 alt_id: OMIM:266100
 xref: GARD:9298;   ORDO:3006
For additional species annotation, visit the Alliance of Genome Resources.


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pyridoxine-dependent epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy
ClinVar Annotator: match by OMIM:266100
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8913181, PMID:16159904, PMID:16491085, PMID:17068770, PMID:17088338, PMID:17721876, PMID:18414213, PMID:18717709, PMID:18762976, PMID:19128417, PMID:19142996, PMID:20370816, PMID:20554659, PMID:20814824, PMID:21733724, PMID:22371912, PMID:22529283, PMID:22784480, PMID:23022070, PMID:23054014, PMID:23350806, PMID:23430810, PMID:24033266, PMID:24122892, PMID:24664088, PMID:24664145, PMID:24748525, PMID:24848745, PMID:24942048, PMID:25326637, PMID:25741868, PMID:26101365, PMID:26224730, PMID:26232297, PMID:26467025, PMID:26891797, PMID:27438048, PMID:28087462, PMID:28492532, PMID:28962114, PMID:29056246, PMID:29286531, PMID:29655203, PMID:30311386 NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:25741868 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:25741868 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:69,164,654...69,176,245
Ensembl chr16:69,163,577...69,176,036
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:25741868 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:16575835, PMID:25741868, PMID:28492532 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            epilepsy 1532
              pyridoxine-dependent epilepsy 7
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                pyridoxine-dependent epilepsy 7
paths to the root

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