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 40
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 myoclonus and seizures. An important gene associated with Pyridoxal 5'-Phosphate-Dependent Epilepsy is PNPO (Pyridoxamine 5'-Phosphate Oxidase). Affiliated tissues include testes, heart 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 11.6
2 epilepsy 10.2

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

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


myoclonus, seizures

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
Testes, Heart, 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 108)
# 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.167T> G (p.Leu56Arg) single nucleotide variant Uncertain significance rs145461623 GRCh37 Chromosome 17, 46020700: 46020700
10 PNPO NM_018129.3(PNPO): c.167T> G (p.Leu56Arg) single nucleotide variant Uncertain significance rs145461623 GRCh38 Chromosome 17, 47943334: 47943334
11 PNPO NM_018129.3(PNPO): c.306C> T (p.Phe102=) single nucleotide variant Benign/Likely benign rs796052866 GRCh37 Chromosome 17, 46022024: 46022024
12 PNPO NM_018129.3(PNPO): c.306C> T (p.Phe102=) single nucleotide variant Benign/Likely benign rs796052866 GRCh38 Chromosome 17, 47944658: 47944658
13 PNPO NM_018129.3(PNPO): c.448_451delCCTG (p.Pro150Argfs) deletion Pathogenic/Likely pathogenic rs796052872 GRCh37 Chromosome 17, 46023257: 46023260
14 PNPO NM_018129.3(PNPO): c.448_451delCCTG (p.Pro150Argfs) deletion Pathogenic/Likely pathogenic rs796052872 GRCh38 Chromosome 17, 47945891: 47945894
15 PNPO NM_018129.3(PNPO): c.544G> A (p.Glu182Lys) single nucleotide variant Uncertain significance rs138727329 GRCh37 Chromosome 17, 46023353: 46023353
16 PNPO NM_018129.3(PNPO): c.544G> A (p.Glu182Lys) single nucleotide variant Uncertain significance rs138727329 GRCh38 Chromosome 17, 47945987: 47945987
17 PNPO NM_018129.3(PNPO): c.686G> A (p.Arg229Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs773450573 GRCh37 Chromosome 17, 46024048: 46024048
18 PNPO NM_018129.3(PNPO): c.686G> A (p.Arg229Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs773450573 GRCh38 Chromosome 17, 47946682: 47946682
19 PNPO NM_018129.3(PNPO): c.782C> T (p.Pro261Leu) single nucleotide variant Uncertain significance rs769125577 GRCh37 Chromosome 17, 46024144: 46024144
20 PNPO NM_018129.3(PNPO): c.782C> T (p.Pro261Leu) single nucleotide variant Uncertain significance rs769125577 GRCh38 Chromosome 17, 47946778: 47946778
21 PNPO NM_018129.3(PNPO): c.674G> A (p.Arg225His) single nucleotide variant Pathogenic rs550423482 GRCh38 Chromosome 17, 47946670: 47946670
22 PNPO NM_018129.3(PNPO): c.674G> A (p.Arg225His) single nucleotide variant Pathogenic rs550423482 GRCh37 Chromosome 17, 46024036: 46024036
23 PNPO NM_018129.3(PNPO): c.*945C> T single nucleotide variant Uncertain significance rs886053107 GRCh38 Chromosome 17, 47947727: 47947727
24 PNPO NM_018129.3(PNPO): c.*945C> T single nucleotide variant Uncertain significance rs886053107 GRCh37 Chromosome 17, 46025093: 46025093
25 PNPO NM_018129.3(PNPO): c.*1151C> T single nucleotide variant Uncertain significance rs145323612 GRCh38 Chromosome 17, 47947933: 47947933
26 PNPO NM_018129.3(PNPO): c.*1151C> T single nucleotide variant Uncertain significance rs145323612 GRCh37 Chromosome 17, 46025299: 46025299
27 PNPO NM_018129.3(PNPO): c.*1580G> A single nucleotide variant Uncertain significance rs143175555 GRCh38 Chromosome 17, 47948362: 47948362
28 PNPO NM_018129.3(PNPO): c.*1580G> A single nucleotide variant Uncertain significance rs143175555 GRCh37 Chromosome 17, 46025728: 46025728
29 PNPO NM_018129.3(PNPO): c.*1668G> A single nucleotide variant Likely benign rs7208554 GRCh37 Chromosome 17, 46025816: 46025816
30 PNPO NM_018129.3(PNPO): c.*1668G> A single nucleotide variant Likely benign rs7208554 GRCh38 Chromosome 17, 47948450: 47948450
31 PNPO NM_018129.3(PNPO): c.*1757G> T single nucleotide variant Uncertain significance rs886053109 GRCh38 Chromosome 17, 47948539: 47948539
32 PNPO NM_018129.3(PNPO): c.*1757G> T single nucleotide variant Uncertain significance rs886053109 GRCh37 Chromosome 17, 46025905: 46025905
33 PNPO NM_018129.3(PNPO): c.*2490C> T single nucleotide variant Uncertain significance rs556101569 GRCh38 Chromosome 17, 47949272: 47949272
34 PNPO NM_018129.3(PNPO): c.*2490C> T single nucleotide variant Uncertain significance rs556101569 GRCh37 Chromosome 17, 46026638: 46026638
35 PNPO NM_018129.3(PNPO): c.-115G> A single nucleotide variant Uncertain significance rs116464338 GRCh38 Chromosome 17, 47941561: 47941561
36 PNPO NM_018129.3(PNPO): c.-115G> A single nucleotide variant Uncertain significance rs116464338 GRCh37 Chromosome 17, 46018927: 46018927
37 PNPO NM_018129.3(PNPO): c.*200C> T single nucleotide variant Uncertain significance rs761169544 GRCh38 Chromosome 17, 47946982: 47946982
38 PNPO NM_018129.3(PNPO): c.*200C> T single nucleotide variant Uncertain significance rs761169544 GRCh37 Chromosome 17, 46024348: 46024348
39 PNPO NM_018129.3(PNPO): c.*272T> G single nucleotide variant Uncertain significance rs189065288 GRCh38 Chromosome 17, 47947054: 47947054
40 PNPO NM_018129.3(PNPO): c.*272T> G single nucleotide variant Uncertain significance rs189065288 GRCh37 Chromosome 17, 46024420: 46024420
41 PNPO NM_018129.3(PNPO): c.*656_*657dupTT duplication Uncertain significance rs35312568 GRCh38 Chromosome 17, 47947438: 47947439
42 PNPO NM_018129.3(PNPO): c.*656_*657dupTT duplication Uncertain significance rs35312568 GRCh37 Chromosome 17, 46024804: 46024805
43 PNPO NM_018129.3(PNPO): c.*731delT deletion Uncertain significance rs886053103 GRCh38 Chromosome 17, 47947513: 47947513
44 PNPO NM_018129.3(PNPO): c.*731delT deletion Uncertain significance rs886053103 GRCh37 Chromosome 17, 46024879: 46024879
45 PNPO NM_018129.3(PNPO): c.*745_*751dupTTCTTTT duplication Uncertain significance rs886053104 GRCh38 Chromosome 17, 47947527: 47947533
46 PNPO NM_018129.3(PNPO): c.*745_*751dupTTCTTTT duplication Uncertain significance rs886053104 GRCh37 Chromosome 17, 46024893: 46024899
47 PNPO NM_018129.3(PNPO): c.*764dupT duplication Benign rs886053105 GRCh38 Chromosome 17, 47947546: 47947546
48 PNPO NM_018129.3(PNPO): c.*764dupT duplication Benign rs886053105 GRCh37 Chromosome 17, 46024912: 46024912
49 PNPO NM_018129.3(PNPO): c.*791G> A single nucleotide variant Uncertain significance rs886053106 GRCh38 Chromosome 17, 47947573: 47947573
50 PNPO NM_018129.3(PNPO): c.*791G> A single nucleotide variant Uncertain significance rs886053106 GRCh37 Chromosome 17, 46024939: 46024939

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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