MCID: PYR021
MIFTS: 27

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

MalaCards integrated aliases for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:

Name: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 57 73
Pyridoxamine 5'-Phosphate Oxidase Deficiency 57 59 13
Pnpo Deficiency 57 59 75
Pnpo-Related Neonatal Epileptic Encephalopathy 59 75
Seizures, Pyridoxine-Resistant, Plp-Sensitive 57 75
Pnpod 57 75
Epileptic Encephalopathy, Neonatal, Pnpo-Related 57
Pyridoxamine-5'-Phosphate Oxidase Deficiency 37
Pyridoxine-5'-Phosphate Oxidase Deficiency 75
Pyridoxal Phosphate-Responsive Seizures 59
Pyridoxal Phosphate-Dependent Seizures 59
Pyridoxamine 5'-Oxidase Deficiency 59
Pyridoxamine 5'-Phosphate Oxidase 13

Characteristics:

Orphanet epidemiological data:

59
pyridoxal phosphate-responsive seizures
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset 0-12 hours after birth
variable features and severity


HPO:

32
pyridoxamine 5-prime-phosphate oxidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

OMIM : 57 PNPOD is an autosomal recessive inborn error of metabolism resulting in vitamin B6 deficiency that manifests as neonatal-onset severe seizures and subsequent encephalopathy. Patients with PNPO mutations tend to respond better to treatment with pyridoxal 5-prime phosphate (PLP) than with pyridoxine (summary by Plecko et al., 2014). (610090)

MalaCards based summary : Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency, also known as pyridoxamine 5'-phosphate oxidase deficiency, is related to pyridoxal 5'-phosphate-dependent epilepsy and deafness with labyrinthine aplasia microtia and microdontia, and has symptoms including myoclonus and seizures. An important gene associated with Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency is PNPO (Pyridoxamine 5'-Phosphate Oxidase), and among its related pathways/superpathways is Vitamin B6 metabolism. Affiliated tissues include eye, and related phenotypes are progressive microcephaly and abnormality of eye movement

UniProtKB/Swiss-Prot : 75 Pyridoxine-5'-phosphate oxidase deficiency: The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine,.

Related Diseases for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Diseases related to Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pyridoxal 5'-phosphate-dependent epilepsy 11.8
2 deafness with labyrinthine aplasia microtia and microdontia 10.0
3 microtia 10.0
4 cerebritis 10.0
5 cerebral folate deficiency 10.0

Graphical network of the top 20 diseases related to Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:



Diseases related to Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Symptoms & Phenotypes for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
hypertonia
myoclonus
unsteady gait
hypotonia, truncal
more
Laboratory Abnormalities:
hypoglycemia
decreased csf homovanillic acid (hva)
increased blood lactate
normal to increased plasma glycine
normal to increased plasma threonine
more
Metabolic Features:
metabolic acidosis

Prenatal Manifestations Delivery:
preterm delivery
low apgar scores

Head And Neck Eyes:
eye movement abnormalities

Growth Other:
failure to thrive

Hematology:
anemia

Abdomen Gastrointestinal:
feeding problems

Head And Neck Head:
microcephaly, progressive


Clinical features from OMIM:

610090

Human phenotypes related to Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 32 HP:0000253
2 abnormality of eye movement 32 HP:0000496
3 seizures 32 HP:0001250
4 global developmental delay 32 HP:0001263
5 hypertonia 32 HP:0001276
6 encephalopathy 32 HP:0001298
7 myoclonus 32 HP:0001336
8 failure to thrive 32 HP:0001508
9 premature birth 32 HP:0001622
10 anemia 32 HP:0001903
11 metabolic acidosis 32 HP:0001942
12 hypoglycemia 32 HP:0001943
13 increased serum lactate 32 HP:0002151
14 unsteady gait 32 HP:0002317
15 decreased csf homovanillic acid 32 HP:0003785
16 feeding difficulties in infancy 32 HP:0008872
17 muscular hypotonia of the trunk 32 HP:0008936

UMLS symptoms related to Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:


myoclonus, seizures

Drugs & Therapeutics for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Search Clinical Trials , NIH Clinical Center for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Genetic Tests for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Anatomical Context for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

MalaCards organs/tissues related to Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:

41
Eye

Publications for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Articles related to Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:

# Title Authors Year
1
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.A^Arg116gln) mutation. ( 28818555 )
2017
2
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency. ( 18024216 )
2008
3
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients. ( 18294893 )
2008
4
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism. ( 18485777 )
2008

Variations for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 PNPO p.Arg229Trp VAR_029360 rs104894629
2 PNPO p.Arg225His VAR_078229 rs550423482
3 PNPO p.Arg229Gln VAR_078643 rs773450573

ClinVar genetic disease variations for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:

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 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Search GEO for disease gene expression data for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency.

Pathways for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Pathways related to Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Vitamin B6 metabolism hsa00750

GO Terms for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Sources for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....