MCID: PYR015
MIFTS: 17

Pyridoxal 5'-Phosphate-Dependent Epilepsy

Categories: Rare diseases

Aliases & Classifications for Pyridoxal 5'-Phosphate-Dependent Epilepsy

MalaCards integrated aliases for Pyridoxal 5'-Phosphate-Dependent Epilepsy:

Name: Pyridoxal 5'-Phosphate-Dependent Epilepsy 53 25 29 6
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 53 25 73
Pnpo-Related Neonatal Epileptic Encephalopathy 53 25
Pyridoxine-5'-Phosphate Oxidase Deficiency 53 25
Pnpo Deficiency 53 25

Classifications:



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UMLS 73 C1864723

Summaries for Pyridoxal 5'-Phosphate-Dependent Epilepsy

NIH Rare Diseases : 53 Pyridoxal 5'-phosphate-dependent epilepsy is a rare genetic metabolic disorder. Babies born with this disorder are not able to make enough Vitamin B6 and this causes the baby to start having seizures soon after they are born (also called early onset or neonatal onset seizures). The normal drugs to treat seizures (anti-seizure medications or anti-convulsants) do not work for these babies, however seizures can be controlled by pyridoxal 5'-phosphate (the active form of Vitamin B6). Published studies in 2015 have shown that some babies with pyridoxal 5'-phosphate-dependent epilepsy also respond well to pyridoxene (a different form of Vitamin B6).  Pyridoxal 5'-phosphate-dependent epilepsy is caused by changes or mutations in the PNPO gene and is inherited in an autosomal recessive manner. Diagnosis is suspected by early onset of seizures which are not controlled by normal anti-seizure medications. Genetic testing is used to confirm the diagnosis. The disorder is fatal without treatment. Early treatment is important to decrease the chance of long term developmental delays.  Some babies with early treatment have developed normally without any intellectual disabilities. There are less than 50 known cases of pyridoxal 5'-phosphate-dependent epilepsy as of 2015.  

MalaCards based summary : Pyridoxal 5'-Phosphate-Dependent Epilepsy, also known as pyridoxamine 5-prime-phosphate oxidase deficiency, is related to pyridoxamine 5-prime-phosphate oxidase deficiency and epilepsy, and has symptoms including seizures and myoclonus. An important gene associated with Pyridoxal 5'-Phosphate-Dependent Epilepsy is PNPO (Pyridoxamine 5'-Phosphate Oxidase). Affiliated tissues include heart, testes and eye.

Genetics Home Reference : 25 Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon after birth or, in some cases, before birth. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions. Most babies with this condition are born prematurely and may have a temporary, potentially toxic, increase in lactic acid in the blood (lactic acidosis). Additionally, some infants have a slow heart rate and a lack of oxygen during delivery (fetal distress).

Related Diseases for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Diseases related to Pyridoxal 5'-Phosphate-Dependent Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pyridoxamine 5-prime-phosphate oxidase deficiency 12.7
2 epilepsy 10.3

Symptoms & Phenotypes for Pyridoxal 5'-Phosphate-Dependent Epilepsy

UMLS symptoms related to Pyridoxal 5'-Phosphate-Dependent Epilepsy:


seizures, myoclonus

Drugs & Therapeutics for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Search Clinical Trials , NIH Clinical Center for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Genetic Tests for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Genetic tests related to Pyridoxal 5'-Phosphate-Dependent Epilepsy:

# Genetic test Affiliating Genes
1 Pyridoxal 5'-Phosphate-Dependent Epilepsy 29 PNPO

Anatomical Context for Pyridoxal 5'-Phosphate-Dependent Epilepsy

MalaCards organs/tissues related to Pyridoxal 5'-Phosphate-Dependent Epilepsy:

41
Heart, Testes, Eye

Publications for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Articles related to Pyridoxal 5'-Phosphate-Dependent Epilepsy:

# Title Authors Year
1
Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy. ( 21292558 )
2011

Variations for Pyridoxal 5'-Phosphate-Dependent Epilepsy

ClinVar genetic disease variations for Pyridoxal 5'-Phosphate-Dependent Epilepsy:

6 (show top 50) (show all 136)
# Gene Variation Type Significance SNP ID Assembly Location
1 PNPO NM_018129.3(PNPO): c.685C> T (p.Arg229Trp) single nucleotide variant Pathogenic rs104894629 GRCh37 Chromosome 17, 46024047: 46024047
2 PNPO NM_018129.3(PNPO): c.685C> T (p.Arg229Trp) single nucleotide variant Pathogenic rs104894629 GRCh38 Chromosome 17, 47946681: 47946681
3 PNPO NM_018129.3(PNPO): c.364_417del54 single nucleotide variant Pathogenic rs774710082 GRCh37 Chromosome 17, 46022924: 46022924
4 PNPO NM_018129.3(PNPO): c.364_417del54 single nucleotide variant Pathogenic rs774710082 GRCh38 Chromosome 17, 47945558: 47945558
5 PNPO NM_018129.3(PNPO): c.784T> C (p.Ter262Gln) single nucleotide variant Pathogenic rs104894631 GRCh37 Chromosome 17, 46024146: 46024146
6 PNPO NM_018129.3(PNPO): c.784T> C (p.Ter262Gln) single nucleotide variant Pathogenic rs104894631 GRCh38 Chromosome 17, 47946780: 47946780
7 PNPO NM_018129.3(PNPO): c.520C> T (p.Gln174Ter) single nucleotide variant Pathogenic rs267606958 GRCh37 Chromosome 17, 46023329: 46023329
8 PNPO NM_018129.3(PNPO): c.520C> T (p.Gln174Ter) single nucleotide variant Pathogenic rs267606958 GRCh38 Chromosome 17, 47945963: 47945963
9 PNPO NM_018129.3(PNPO): c.165C> T (p.Ser55=) single nucleotide variant Benign rs11079804 GRCh37 Chromosome 17, 46020698: 46020698
10 PNPO NM_018129.3(PNPO): c.165C> T (p.Ser55=) single nucleotide variant Benign rs11079804 GRCh38 Chromosome 17, 47943332: 47943332
11 PNPO NM_018129.3(PNPO): c.347G> A (p.Arg116Gln) single nucleotide variant Benign/Likely benign rs17679445 GRCh37 Chromosome 17, 46022065: 46022065
12 PNPO NM_018129.3(PNPO): c.347G> A (p.Arg116Gln) single nucleotide variant Benign/Likely benign rs17679445 GRCh38 Chromosome 17, 47944699: 47944699
13 PNPO NM_018129.3(PNPO): c.486C> G (p.Pro162=) single nucleotide variant Benign/Likely benign rs35974730 GRCh37 Chromosome 17, 46023295: 46023295
14 PNPO NM_018129.3(PNPO): c.486C> G (p.Pro162=) single nucleotide variant Benign/Likely benign rs35974730 GRCh38 Chromosome 17, 47945929: 47945929
15 PNPO NM_018129.3(PNPO): c.552G> A (p.Leu184=) single nucleotide variant Benign/Likely benign rs4378657 GRCh37 Chromosome 17, 46023694: 46023694
16 PNPO NM_018129.3(PNPO): c.552G> A (p.Leu184=) single nucleotide variant Benign/Likely benign rs4378657 GRCh38 Chromosome 17, 47946328: 47946328
17 PNPO NM_018129.3(PNPO): c.500T> C (p.Ile167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs546737191 GRCh37 Chromosome 17, 46023309: 46023309
18 PNPO NM_018129.3(PNPO): c.500T> C (p.Ile167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs546737191 GRCh38 Chromosome 17, 47945943: 47945943
19 PNPO NM_018129.3(PNPO): c.546+15G> A single nucleotide variant Benign/Likely benign rs71377328 GRCh37 Chromosome 17, 46023370: 46023370
20 PNPO NM_018129.3(PNPO): c.546+15G> A single nucleotide variant Benign/Likely benign rs71377328 GRCh38 Chromosome 17, 47946004: 47946004
21 PNPO NM_018129.3(PNPO): c.723C> G (p.Ser241=) single nucleotide variant Conflicting interpretations of pathogenicity rs144362146 GRCh37 Chromosome 17, 46024085: 46024085
22 PNPO NM_018129.3(PNPO): c.723C> G (p.Ser241=) single nucleotide variant Conflicting interpretations of pathogenicity rs144362146 GRCh38 Chromosome 17, 47946719: 47946719
23 PNPO NM_018129.3(PNPO): c.98A> T (p.Asp33Val) single nucleotide variant Pathogenic rs370243877 GRCh37 Chromosome 17, 46019139: 46019139
24 PNPO NM_018129.3(PNPO): c.98A> T (p.Asp33Val) single nucleotide variant Pathogenic rs370243877 GRCh38 Chromosome 17, 47941773: 47941773
25 PNPO NM_018129.3(PNPO): c.167T> G (p.Leu56Arg) single nucleotide variant Uncertain significance rs145461623 GRCh37 Chromosome 17, 46020700: 46020700
26 PNPO NM_018129.3(PNPO): c.167T> G (p.Leu56Arg) single nucleotide variant Uncertain significance rs145461623 GRCh38 Chromosome 17, 47943334: 47943334
27 PNPO NM_018129.3(PNPO): c.306C> T (p.Phe102=) single nucleotide variant Benign/Likely benign rs796052866 GRCh37 Chromosome 17, 46022024: 46022024
28 PNPO NM_018129.3(PNPO): c.306C> T (p.Phe102=) single nucleotide variant Benign/Likely benign rs796052866 GRCh38 Chromosome 17, 47944658: 47944658
29 PNPO NM_018129.3(PNPO): c.448_451delCCTG (p.Pro150Argfs) deletion Pathogenic/Likely pathogenic rs796052872 GRCh37 Chromosome 17, 46023257: 46023260
30 PNPO NM_018129.3(PNPO): c.448_451delCCTG (p.Pro150Argfs) deletion Pathogenic/Likely pathogenic rs796052872 GRCh38 Chromosome 17, 47945891: 47945894
31 PNPO NM_018129.3(PNPO): c.542G> A (p.Arg181Gln) single nucleotide variant Uncertain significance rs377328326 GRCh37 Chromosome 17, 46023351: 46023351
32 PNPO NM_018129.3(PNPO): c.542G> A (p.Arg181Gln) single nucleotide variant Uncertain significance rs377328326 GRCh38 Chromosome 17, 47945985: 47945985
33 PNPO NM_018129.3(PNPO): c.544G> A (p.Glu182Lys) single nucleotide variant Uncertain significance rs138727329 GRCh37 Chromosome 17, 46023353: 46023353
34 PNPO NM_018129.3(PNPO): c.544G> A (p.Glu182Lys) single nucleotide variant Uncertain significance rs138727329 GRCh38 Chromosome 17, 47945987: 47945987
35 PNPO NM_018129.3(PNPO): c.686G> A (p.Arg229Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs773450573 GRCh37 Chromosome 17, 46024048: 46024048
36 PNPO NM_018129.3(PNPO): c.686G> A (p.Arg229Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs773450573 GRCh38 Chromosome 17, 47946682: 47946682
37 PNPO NM_018129.3(PNPO): c.698G> A (p.Arg233Gln) single nucleotide variant Uncertain significance rs144390543 GRCh37 Chromosome 17, 46024060: 46024060
38 PNPO NM_018129.3(PNPO): c.698G> A (p.Arg233Gln) single nucleotide variant Uncertain significance rs144390543 GRCh38 Chromosome 17, 47946694: 47946694
39 PNPO NM_018129.3(PNPO): c.782C> T (p.Pro261Leu) single nucleotide variant Uncertain significance rs769125577 GRCh37 Chromosome 17, 46024144: 46024144
40 PNPO NM_018129.3(PNPO): c.782C> T (p.Pro261Leu) single nucleotide variant Uncertain significance rs769125577 GRCh38 Chromosome 17, 47946778: 47946778
41 PNPO NM_018129.3(PNPO): c.674G> A (p.Arg225His) single nucleotide variant Pathogenic rs550423482 GRCh38 Chromosome 17, 47946670: 47946670
42 PNPO NM_018129.3(PNPO): c.674G> A (p.Arg225His) single nucleotide variant Pathogenic rs550423482 GRCh37 Chromosome 17, 46024036: 46024036
43 PNPO NM_018129.3(PNPO): c.*945C> T single nucleotide variant Uncertain significance rs886053107 GRCh38 Chromosome 17, 47947727: 47947727
44 PNPO NM_018129.3(PNPO): c.*945C> T single nucleotide variant Uncertain significance rs886053107 GRCh37 Chromosome 17, 46025093: 46025093
45 PNPO NM_018129.3(PNPO): c.*1151C> T single nucleotide variant Uncertain significance rs145323612 GRCh38 Chromosome 17, 47947933: 47947933
46 PNPO NM_018129.3(PNPO): c.*1151C> T single nucleotide variant Uncertain significance rs145323612 GRCh37 Chromosome 17, 46025299: 46025299
47 PNPO NM_018129.3(PNPO): c.*1580G> A single nucleotide variant Uncertain significance rs143175555 GRCh38 Chromosome 17, 47948362: 47948362
48 PNPO NM_018129.3(PNPO): c.*1580G> A single nucleotide variant Uncertain significance rs143175555 GRCh37 Chromosome 17, 46025728: 46025728
49 PNPO NM_018129.3(PNPO): c.*1668G> A single nucleotide variant Likely benign rs7208554 GRCh38 Chromosome 17, 47948450: 47948450
50 PNPO NM_018129.3(PNPO): c.*1668G> A single nucleotide variant Likely benign rs7208554 GRCh37 Chromosome 17, 46025816: 46025816

Expression for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Search GEO for disease gene expression data for Pyridoxal 5'-Phosphate-Dependent Epilepsy.

Pathways for Pyridoxal 5'-Phosphate-Dependent Epilepsy

GO Terms for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Sources for Pyridoxal 5'-Phosphate-Dependent Epilepsy

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