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Ontology Browser
Term:
pyridoxal phosphate-responsive seizures (EFO:MONDO:0012407)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +  
adult-onset nemaline myopathy 
advanced sleep phase syndrome 
alpha-actinopathy +  
anencephaly +  
Angelman syndrome +  
angioid streaks +  
arthrogryposis +  
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 
ataxia telangiectasia 
ATP1A3-associated neurological disorder +  
auditory neuropathy +  
autosomal recessive non-syndromic intellectual disability +  
B4GALT1-congenital disorder of glycosylation 
Bailey-Bloch congenital myopathy 
Behr syndrome 
benign familial infantile epilepsy +  
benign neonatal seizures 
bilateral frontoparietal polymicrogyria 
bilateral generalized polymicrogyria 
bilateral parasagittal parieto-occipital polymicrogyria 
bilateral striopallidodentate calcinosis +  
bilirubin encephalopathy +  
biotin-responsive basal ganglia disease 
biotinidase deficiency 
blue color blindness 
Bohring-Opitz syndrome 
Bosch-Boonstra-Schaaf optic atrophy syndrome 
bradyopsia 
brain-lung-thyroid syndrome 
Brody myopathy 
cardiac anomalies - developmental delay - facial dysmorphism syndrome 
caveolinopathy +  
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 
cerebral amyloid angiopathy +   
cerebral creatine deficiency syndrome +  
cerebral lipidosis with dementia +  
Chiari malformation type I 
Chiari malformation type II 
childhood absence epilepsy  
childhood apraxia of speech 
childhood-onset nemaline myopathy +  
choroid plexus papilloma 
chromosome 2p16.3 deletion syndrome 
chronic fatigue syndrome  
chronic inflammatory demyelinating polyneuropathy 
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome 
CK syndrome 
Cohen syndrome 
coloboma of optic nerve +  
combined pituitary hormone deficiencies, genetic form +  
complex cortical dysplasia with other brain malformations +  
congenital hydrocephalus +  
congenital nystagmus +  
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 
dilated cardiomyopathy 3B 
Duane retraction syndrome +  
dyskinesia with orofacial involvement, autosomal dominant 
early myoclonic encephalopathy +  
encephalopathy, acute, infection-induced +   
epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features +  
epileptic encephalopathy, infantile or early childhood +  
essential tremor +   
familial congenital mirror movements +  
familial congenital palsy of trochlear nerve 
familial hemiplegic migraine +  
familial hemophagocytic lymphohistiocytosis type 1 
familial hyperprolactinemia 
familial isolated pituitary adenoma +  
familial meningioma 
familial partial epilepsy +   
familial periodic paralysis +   
familial porencephaly +  
familial pterygium of the conjunctiva 
familial retinal arterial macroaneurysm 
familial schizencephaly 
familial syringomyelia 
famililal cerebral cavernous malformations +  
folinic acid-responsive seizures 
Frey Syndrome 
generalised epilepsy +   
generalized epilepsy with febrile seizures plus +  
Gerstmann-Straussler-Scheinker syndrome 
GLUT1 deficiency syndrome +  
glutaryl-CoA dehydrogenase deficiency 
glycine encephalopathy +  
Griscelli syndrome type 1 
hereditary ataxia +   
hereditary cryohydrocytosis with reduced stomatin 
hereditary hyperekplexia +  
hereditary narcolepsy 
hereditary neuromuscular disease +   
hereditary night blindness +  
hereditary retinoblastoma 
holocarboxylase synthetase deficiency 
holoprosencephaly +  
Hoyeraal-Hreidarsson syndrome 
HSD10 mitochondrial disease +  
hypermanganesemia with dystonia 2 
inborn aminoacylase deficiency +  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 
inherited dystonia +  
inherited neurodegenerative disorder +   
inherited orthostatic hypotension +  
inherited reflex epilepsy +  
inherited retinal dystrophy +   
inherited vitreoretinopathy +  
intellectual developmental disorder and retinitis pigmentosa 
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 
intellectual disability, autosomal dominant +  
intellectual disability, autosomal recessive 53 
intellectual disability-hypotonia-spasticity-sleep disorder syndrome 
intellectual disability-severe speech delay-mild dysmorphism syndrome 
intellectual disability-sparse hair-brachydactyly syndrome 
intracranial berry aneurysm +  
isolated hereditary congenital facial paralysis 
Johanson-Blizzard syndrome 
juvenile absence epilepsy 
KBG syndrome 
King-Denborough syndrome 
Landau-Kleffner syndrome +  
lateral meningocele syndrome 
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 
leukoencephalopathy, megalencephalic +  
Li-Fraumeni syndrome 
linear nevus sebaceous syndrome 
lissencephaly spectrum disorders +  
megalencephaly-capillary malformation-polymicrogyria syndrome 
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome +  
Mendelian neurodevelopmental disorder +  
MERRF syndrome 
microangiopathy and leukoencephalopathy, pontine, autosomal dominant 
microcephaly-complex motor and sensory axonal neuropathy syndrome 
mismatch repair cancer syndrome 1 
mitochondrial DNA depletion syndrome 4a 
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 
Mowat-Wilson syndrome +  
Moyamoya disease +   
multiminicore myopathy +  
multiple pterygium-malignant hyperthermia syndrome 
Myhre syndrome 
myoclonic-astatic epilepsy 
myoclonus, familial 
myofibrillar myopathy 5 
myopathy caused by variation in POMGNT1 +  
myopathy due to calsequestrin and SERCA1 protein overload 
myopic macular degeneration 
myosclerosis 
NARP syndrome 
neurocutaneous melanocytosis 
neurofibromatosis +  
neurohypophyseal diabetes insipidus 
neuroocular syndrome 
nevoid basal cell carcinoma syndrome 
noise-induced hearing loss  
nonsyndromic genetic hearing loss +  
NPHP3-related Meckel-like syndrome 
obsessive-compulsive disorder  
occipital pachygyria and polymicrogyria 
oculocerebrocutaneous syndrome 
orofaciodigital syndrome type 6 
oxoglutaricaciduria 
Paraganglioma +  
parietal foramina +  
Parkinson disease +   
parkinsonism with polyneuropathy 
paroxysmal extreme pain disorder 
PAX6-related ocular dysgenesis +  
PEHO-like syndrome 
periventricular nodular heterotopia +  
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 
peroxisomal disease +  
Perry syndrome 
phakomatosis pigmentokeratotica 
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 
Pierpont syndrome 
polyhydramnios, megalencephaly, and symptomatic epilepsy 
pontocerebellar hypoplasia +  
PPP2R1A-related intellectual disability 
Prader-Willi-like syndrome +  
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 
progressive myoclonus epilepsy +  
proximal myopathy with extrapyramidal signs 
PrP systemic amyloidosis 
PRRT2-associated paroxysmal movement disorder +  
pyridoxal phosphate-responsive seizures 
Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.
pyridoxine-dependent epilepsy +  
pyruvate dehydrogenase deficiency +  
qualitative or quantitative defects of alpha-sarcoglycan +  
qualitative or quantitative defects of beta-myosin heavy chain (MYH7) +  
qualitative or quantitative defects of beta-sarcoglycan +  
qualitative or quantitative defects of delta-sarcoglycan +  
qualitative or quantitative defects of desmin +  
qualitative or quantitative defects of dysferlin +  
qualitative or quantitative defects of gamma-sarcoglycan +  
qualitative or quantitative defects of perlecan +  
qualitative or quantitative defects of plectin +  
qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan +  
qualitative or quantitative defects of telethonin +  
qualitative or quantitative defects of TRIM32 +  
red color blindness 
red-green color blindness 
retinal ciliopathy +  
retinal detachment +   
rhabdoid tumor predisposition syndrome 2 
Riley-Day syndrome 
Ritscher-Schinzel syndrome +  
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 
SATB2 associated disorder +  
Schinzel-Giedion syndrome 
schizophrenia 15 
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +  
SERAC1-related neurological disorder +  
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth +  
severe congenital nemaline myopathy +  
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 
severe neonatal-onset encephalopathy with microcephaly 
short stature-brachydactyly-obesity-global developmental delay syndrome 
SIN3A-related intellectual disability syndrome 
SLC39A8-CDG 
SLC6A3-related dopamine transporter deficiency syndrome +  
Smith-Magenis syndrome 
SPAST-related motor disorder +  
spastic quadriplegic cerebral palsy +  
specific language impairment +   
specific phobia +  
Sturge-Weber syndrome 
stutter disorder +  
SYNGAP1-related developmental and epileptic encephalopathy 
TH-deficient dopa-responsive dystonia 
Tourette syndrome  
TPM2-related myopathy +  
TPM3-related myopathy +  
TTN-related myopathy +  
TUBB3-related tubulinopathy +  
tuberous sclerosis 
typical nemaline myopathy +  
undetermined early-onset epileptic encephalopathy +  
Ververi-Brady syndrome 
X-linked deafness +  
X-linked immunoneurologic disorder 
X-linked intellectual disability +  

Synonyms
Exact Synonyms: pyridoxal phosphate-dependent seizures ;   pyridoxamine 5'-oxidase deficiency ;   pyridoxamine 5'-phosphate oxidase deficiency
Related Synonyms: PNPOD ;   Pnpo deficiency ;   epileptic encephalopathy, neonatal, Pnpo-related ;   pyridoxal 5'-phosphate-dependent epilepsy ;   pyridoxamine 5-prime-phosphate oxidase deficiency ;   pyridoxine-5'-phosphate oxidase deficiency ;   seizures, pyridoxine-resistant, PLP-sensitive
Alternate IDs: MONDO:0012407
Xrefs: DOID:0111329 ;   GARD:10730 ;   MEDGEN:350498 ;   MESH:C566449 ;   MIM:610090 ;   ORDO:79096 ;   SCTID:724576005 ;   UMLS:C1864723 ;   icd11.foundation:1632334328
External Ontologys: disease_responds_to EFO:CHEBI:18405
see_also: https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#pyridoxine
Definition Sources: Orphanet:79096

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