PNPOD
MCID: PYR021
MIFTS: 50

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (PNPOD)

Categories: Genetic diseases, Metabolic diseases, Neuronal 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 12 20 43 44 70
Pnpo Deficiency 57 12 20 43 58 72
Pnpo-Related Neonatal Epileptic Encephalopathy 12 20 43 58 72
Pyridoxamine 5'-Phosphate Oxidase Deficiency 57 12 58 13 15
Pyridoxal Phosphate-Responsive Seizures 12 58 29 6
Pyridoxine-5'-Phosphate Oxidase Deficiency 20 43 72
Pyridoxal 5'-Phosphate-Dependent Epilepsy 12 20 43
Seizures, Pyridoxine-Resistant, Plp-Sensitive 57 72
Pyridoxal Phosphate-Dependent Seizures 12 58
Pyridoxamine 5'-Oxidase Deficiency 12 58
Pnpod 57 72
Epileptic Encephalopathy, Neonatal, Pnpo-Related 57
Pyridoxamine-5'-Phosphate Oxidase Deficiency 36
Deficiency, Pyridoxamine 5'-Phosphate Oxidase 39

Characteristics:

Orphanet epidemiological data:

58
pyridoxal phosphate-responsive seizures
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
pyridoxamine 5-prime-phosphate oxidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

GARD : 20 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 : Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency, also known as pnpo deficiency, is related to epilepsy, pyridoxine-dependent and seizure disorder, and has symptoms including seizures and myoclonus. An important gene associated with Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency is PNPO (Pyridoxamine 5'-Phosphate Oxidase), and among its related pathways/superpathways are Vitamin B6 metabolism and Metabolism. The drugs Folic acid and Pyridoxal Phosphate have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are status epilepticus and epileptic encephalopathy

Disease Ontology : 12 A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has material basis in homozygous or compound heterozygous mutation in PNPO on 17q21.32.

MedlinePlus Genetics : 43 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).Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxal 5'-phosphate-dependent epilepsy. Instead, individuals with this type of epilepsy are medically treated with large daily doses of pyridoxal 5'-phosphate (a form of vitamin B6). If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy), which can lead to death. Even though seizures can be controlled with pyridoxal 5'-phosphate, neurological problems such as developmental delay and learning disorders may still occur.

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) (Updated 05-Apr-2021)

KEGG : 36 Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive disorder that causes intractable seizures that are not responsive to anticonvulsant drugs and pyridoxine. Patients with this deficiency have very low concentrations of pyridoxal 5'-phosphate (PLP), leaving exogenous pyridoxal/PLP as the only source of the active cofactor. Clinically, this disease presents with neonatal epileptic encephalopathy with severe seizures which do not respond to anticonvulsant drugs or pyridoxine but shows a dramatic response to PLP. Pathogenic mutations in PNPO gene have been identified.

UniProtKB/Swiss-Prot : 72 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:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 epilepsy, pyridoxine-dependent 30.0 PLPBP ALDH7A1
2 seizure disorder 29.5 PNPO KCNQ2 BTD ALDH7A1
3 early infantile epileptic encephalopathy 29.4 PNPO PLPBP KCNQ2 ALDH7A1
4 encephalopathy 10.3
5 hypophosphatasia 10.3 PNPO ALPL
6 portal hypertension 10.2
7 epilepsy 10.2
8 myoclonus 10.2
9 ataxia and polyneuropathy, adult-onset 10.1
10 branchiootic syndrome 1 10.1
11 deafness, congenital, with inner ear agenesis, microtia, and microdontia 10.1
12 neurodegeneration due to cerebral folate transport deficiency 10.1
13 microtia 10.1
14 cerebral creatine deficiency syndrome 2 10.1 PNPO BTD
15 hyperprolinemia 10.1 PNPO ALDH7A1 ALDH4A1
16 biotinidase deficiency 10.1 PNPO BTD
17 oculogyric crisis 10.1 SPR DDC
18 multiple carboxylase deficiency 10.1 PNPO BTD
19 succinic semialdehyde dehydrogenase deficiency 10.0 ALDH7A1 ALDH4A1
20 holocarboxylase synthetase deficiency 10.0 PNPO PLPBP BTD
21 alacrima, achalasia, and mental retardation syndrome 10.0
22 autosomal recessive disease 10.0
23 autism spectrum disorder 10.0
24 status epilepticus 10.0
25 liver cirrhosis 10.0
26 hypotonia 10.0
27 thiamine metabolism dysfunction syndrome 2 9.9 QDPR BTD
28 infancy electroclinical syndrome 9.9 PNPO KCNQ2
29 hyperphenylalaninemia, bh4-deficient, a 9.9 SPR QDPR
30 benign neonatal seizures 9.9 PNPO KCNQ2
31 hyperphenylalaninemia 9.9 SPR QDPR
32 tetrahydrobiopterin deficiency 9.9 SPR QDPR
33 glycine encephalopathy 9.9 PNPO PLPBP BTD ALDH7A1
34 hypophosphatasia, infantile 9.9 PNPO PIGV ALPL ALDH4A1
35 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 9.8 SPR QDPR
36 neonatal period electroclinical syndrome 9.8 PNPO KCNQ2
37 tyrosinemia 9.6 QDPR BTD
38 west syndrome 9.6 PNPO KCNQ2 BTD
39 hyperprolinemia, type ii 9.6 PNPO PLPBP PIGV ALPL ALDH7A1 ALDH4A1
40 aromatic l-amino acid decarboxylase deficiency 9.5 SPR QDPR PNPO PLPBP DDC

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

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

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 status epilepticus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002133
2 epileptic encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0200134
3 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
4 abnormality of eye movement 58 31 frequent (33%) Frequent (79-30%) HP:0000496
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
7 hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001943
8 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
9 increased serum lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002151
10 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
11 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
12 metabolic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0001942
13 hypoargininemia 58 31 frequent (33%) Frequent (79-30%) HP:0005961
14 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
15 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
16 abnormality of the amniotic fluid 58 31 frequent (33%) Frequent (79-30%) HP:0001560
17 global brain atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002283
18 eeg with burst suppression 58 31 frequent (33%) Frequent (79-30%) HP:0010851
19 decreased csf homovanillic acid 58 31 frequent (33%) Frequent (79-30%) HP:0003785
20 high-pitched cry 58 31 frequent (33%) Frequent (79-30%) HP:0025430
21 low apgar score 58 31 frequent (33%) Frequent (79-30%) HP:0030917
22 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
23 pyridoxine-responsive sideroblastic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005522
24 abnormal circulating glycine concentration 31 occasional (7.5%) HP:0010895
25 abnormal circulating histidine concentration 31 occasional (7.5%) HP:0010904
26 abnormal circulating tyrosine concentration 31 occasional (7.5%) HP:0010917
27 abnormal circulating threonine concentration 31 occasional (7.5%) HP:0010900
28 seizures 58 Frequent (79-30%)
29 feeding difficulties in infancy 31 HP:0008872
30 anemia 31 HP:0001903
31 encephalopathy 31 HP:0001298
32 abnormality of tyrosine metabolism 58 Occasional (29-5%)
33 progressive microcephaly 31 HP:0000253
34 abnormality of histidine metabolism 58 Occasional (29-5%)
35 rotary nystagmus 31 HP:0001583
36 abnormality of glycine metabolism 58 Occasional (29-5%)
37 abnormality of threonine metabolism 58 Occasional (29-5%)
38 abnormality of arginine metabolism 58 Occasional (29-5%)
39 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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


seizures; myoclonus

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

Drugs for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
2
Pyridoxal Phosphate Approved, Investigational, Nutraceutical Phase 3 54-47-7 1051
3
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
4 Trace Elements Phase 3
5 Vitamin B9 Phase 3
6 Nutrients Phase 3
7 Vitamin B Complex Phase 3
8 Vitamins Phase 3
9 Folate Phase 3
10 Vitamin B 6 Phase 3
11 Micronutrients Phase 3
12
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Pyridoxal 5'-Phosphate for the Treatment of Patients With PNPO Deficiency Not yet recruiting NCT04706013 Phase 3 Pyridoxal Phosphate

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

Cochrane evidence based reviews: pyridoxamine 5-prime-phosphate oxidase deficiency

Genetic Tests for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Genetic tests related to Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:

# Genetic test Affiliating Genes
1 Pyridoxal Phosphate-Responsive Seizures 29 PNPO

Anatomical Context for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

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

40
Eye, Brain

Publications for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

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

(show all 46)
# Title Authors PMID Year
1
Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment. 6 57 61
24266778 2014
2
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency. 57 6 61
18024216 2008
3
Pyridoxine responsiveness in novel mutations of the PNPO gene. 57 6
24658933 2014
4
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. 57 6
15772097 2005
5
Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency. 6 57
12200739 2002
6
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy. 61 6
25762494 2015
7
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. 61 6
24645144 2014
8
Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency. 6 61
25256445 2014
9
Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid. 61 6
23419474 2013
10
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism. 61 6
18485777 2008
11
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. 6
28985901 2017
12
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 6
27781031 2016
13
The genetic landscape of infantile spasms. 6
24781210 2014
14
Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships. 6
22858719 2013
15
Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy. 6
21292558 2011
16
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. 6
20370816 2010
17
Neonatal epileptic encephalopathy. 57
12747882 2003
18
Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report. 20
26535729 2015
19
Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature. 20
25296925 2015
20
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature. 61
33748042 2021
21
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency. 61
32888189 2021
22
Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations. 61
31759955 2020
23
Variable treatment response in a patient with pyridoxal N phosphate oxidase (PNPO) deficiency- understanding the paradox. 61
32395712 2020
24
Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation. 61
31397616 2019
25
Update on the treatment of vitamin B6 dependent epilepsies. 61
31340680 2019
26
Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster. 61
31261385 2019
27
Pyridoxamine Supplementation Effectively Reverses the Abnormal Phenotypes of Zebrafish Larvae With PNPO Deficiency. 61
31616300 2019
28
Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142]. 61
29548777 2018
29
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO). 61
29379851 2017
30
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation. 61
28818555 2017
31
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy. 61
28782931 2017
32
Novel phenotypes of pyridox(am)ine-5'-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients. 61
28349276 2017
33
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. 61
27342130 2016
34
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation. 61
27014579 2016
35
Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review. 61
26303608 2016
36
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype? 61
26108646 2016
37
Long-term outcome in pyridoxine-responsive infantile epilepsy. 61
26310861 2015
38
Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report. 61
24297574 2014
39
Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method. 61
22576361 2013
40
Pyridoxine and pyridoxalphosphate-dependent epilepsies. 61
23622403 2013
41
Partial Pyridoxine Responsiveness in PNPO Deficiency. 61
23430561 2013
42
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. 61
21704546 2011
43
Vitamin B6 dependent seizures. 61
19760909 2009
44
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients. 61
18294893 2008
45
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. 61
17216302 2007
46
Diagnosis and treatment of neurotransmitter disorders. 61
17032564 2006

Variations for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

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

6 (show top 50) (show all 133)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PNPO NM_018129.4(PNPO):c.685C>T (p.Arg229Trp) SNV Pathogenic 6523 rs104894629 GRCh37: 17:46024047-46024047
GRCh38: 17:47946681-47946681
2 PNPO NM_018129.4(PNPO):c.364-1G>A SNV Pathogenic 6524 rs774710082 GRCh37: 17:46022924-46022924
GRCh38: 17:47945558-47945558
3 PNPO NM_018129.4(PNPO):c.784T>C (p.Ter262Gln) SNV Pathogenic 6525 rs104894631 GRCh37: 17:46024146-46024146
GRCh38: 17:47946780-47946780
4 PNPO NM_018129.4(PNPO):c.520C>T (p.Gln174Ter) SNV Pathogenic 6526 rs267606958 GRCh37: 17:46023329-46023329
GRCh38: 17:47945963-47945963
5 PNPO NM_018129.4(PNPO):c.284G>A (p.Arg95His) SNV Pathogenic 849386 GRCh37: 17:46022002-46022002
GRCh38: 17:47944636-47944636
6 PNPO NM_018129.4(PNPO):c.205delinsTTTCCCCT (p.Ala69fs) Indel Pathogenic 967984 GRCh37: 17:46020738-46020738
GRCh38: 17:47943372-47943372
7 PNPO NM_018129.4(PNPO):c.98A>T (p.Asp33Val) SNV Pathogenic 206458 rs370243877 GRCh37: 17:46019139-46019139
GRCh38: 17:47941773-47941773
8 PNPO NM_018129.4(PNPO):c.673C>T (p.Arg225Cys) SNV Pathogenic 206450 rs769266169 GRCh37: 17:46024035-46024035
GRCh38: 17:47946669-47946669
9 PNPO NM_018129.4(PNPO):c.674G>A (p.Arg225His) SNV Pathogenic 223153 GRCh37: 17:46024036-46024036
GRCh38: 17:47946670-47946670
10 PNPO NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) SNV Pathogenic 206452 rs773450573 GRCh37: 17:46024048-46024048
GRCh38: 17:47946682-47946682
11 PNPO NM_018129.4(PNPO):c.448_451del (p.Pro150fs) Deletion Likely pathogenic 206460 rs796052872 GRCh37: 17:46023254-46023257
GRCh38: 17:47945888-47945891
12 PNPO NM_018129.4(PNPO):c.657G>A (p.Trp219Ter) SNV Likely pathogenic 658245 rs776248931 GRCh37: 17:46024019-46024019
GRCh38: 17:47946653-47946653
13 PNPO NM_018129.4(PNPO):c.264-2A>G SNV Likely pathogenic 409830 rs780977054 GRCh37: 17:46021980-46021980
GRCh38: 17:47944614-47944614
14 PNPO NM_018129.4(PNPO):c.*643C>T SNV Uncertain significance 890278 GRCh37: 17:46024791-46024791
GRCh38: 17:47947425-47947425
15 PNPO NM_018129.4(PNPO):c.*729T>G SNV Uncertain significance 890279 GRCh37: 17:46024877-46024877
GRCh38: 17:47947511-47947511
16 PNPO NM_018129.4(PNPO):c.*2191A>G SNV Uncertain significance 890329 GRCh37: 17:46026339-46026339
GRCh38: 17:47948973-47948973
17 PNPO NM_018129.4(PNPO):c.*818C>T SNV Uncertain significance 890842 GRCh37: 17:46024966-46024966
GRCh38: 17:47947600-47947600
18 PNPO NM_018129.4(PNPO):c.*877G>T SNV Uncertain significance 890843 GRCh37: 17:46025025-46025025
GRCh38: 17:47947659-47947659
19 PNPO NM_018129.4(PNPO):c.16C>A (p.Arg6=) SNV Uncertain significance 588336 rs765997859 GRCh37: 17:46019057-46019057
GRCh38: 17:47941691-47941691
20 PNPO NM_018129.4(PNPO):c.59G>C (p.Gly20Ala) SNV Uncertain significance 892041 GRCh37: 17:46019100-46019100
GRCh38: 17:47941734-47941734
21 PNPO NM_018129.4(PNPO):c.*1190A>G SNV Uncertain significance 892085 GRCh37: 17:46025338-46025338
GRCh38: 17:47947972-47947972
22 PNPO NM_018129.4(PNPO):c.*1513G>T SNV Uncertain significance 892086 GRCh37: 17:46025661-46025661
GRCh38: 17:47948295-47948295
23 PNPO NM_018129.4(PNPO):c.37G>T (p.Gly13Trp) SNV Uncertain significance 502681 rs1025645549 GRCh37: 17:46019078-46019078
GRCh38: 17:47941712-47941712
24 PNPO NM_018129.4(PNPO):c.323G>A (p.Arg108His) SNV Uncertain significance 966469 GRCh37: 17:46022041-46022041
GRCh38: 17:47944675-47944675
25 PNPO NM_018129.4(PNPO):c.547T>G (p.Tyr183Asp) SNV Uncertain significance 861731 GRCh37: 17:46023689-46023689
GRCh38: 17:47946323-47946323
26 PNPO NM_018129.4(PNPO):c.549T>C (p.Tyr183=) SNV Uncertain significance 888576 GRCh37: 17:46023691-46023691
GRCh38: 17:47946325-47946325
27 PNPO NM_018129.4(PNPO):c.*84A>T SNV Uncertain significance 888577 GRCh37: 17:46024232-46024232
GRCh38: 17:47946866-47946866
28 PNPO NM_018129.4(PNPO):c.*141C>T SNV Uncertain significance 888578 GRCh37: 17:46024289-46024289
GRCh38: 17:47946923-47946923
29 PNPO NM_018129.4(PNPO):c.*1803C>A SNV Uncertain significance 888624 GRCh37: 17:46025951-46025951
GRCh38: 17:47948585-47948585
30 PNPO NM_018129.4(PNPO):c.*1965C>T SNV Uncertain significance 888625 GRCh37: 17:46026113-46026113
GRCh38: 17:47948747-47948747
31 PNPO NM_018129.4(PNPO):c.767A>G (p.Tyr256Cys) SNV Uncertain significance 468363 rs148784343 GRCh37: 17:46024129-46024129
GRCh38: 17:47946763-47946763
32 PNPO NM_018129.4(PNPO):c.281C>T (p.Ala94Val) SNV Uncertain significance 522477 rs1555563203 GRCh37: 17:46021999-46021999
GRCh38: 17:47944633-47944633
33 PNPO NM_018129.4(PNPO):c.28G>C (p.Ala10Pro) SNV Uncertain significance 536261 rs895290391 GRCh37: 17:46019069-46019069
GRCh38: 17:47941703-47941703
34 PNPO NM_018129.4(PNPO):c.226G>A (p.Gly76Arg) SNV Uncertain significance 571195 rs370329917 GRCh37: 17:46020759-46020759
GRCh38: 17:47943393-47943393
35 PNPO NM_018129.4(PNPO):c.759C>G (p.Asp253Glu) SNV Uncertain significance 575834 rs757023013 GRCh37: 17:46024121-46024121
GRCh38: 17:47946755-47946755
36 PNPO NM_018129.4(PNPO):c.385C>T (p.Leu129Phe) SNV Uncertain significance 581522 rs891457932 GRCh37: 17:46022946-46022946
GRCh38: 17:47945580-47945580
37 PNPO NM_018129.4(PNPO):c.323G>T (p.Arg108Leu) SNV Uncertain significance 582891 rs769985808 GRCh37: 17:46022041-46022041
GRCh38: 17:47944675-47944675
38 PNPO NM_018129.4(PNPO):c.395A>G (p.Tyr132Cys) SNV Uncertain significance 625992 rs1567713601 GRCh37: 17:46022956-46022956
GRCh38: 17:47945590-47945590
39 PNPO NM_018129.4(PNPO):c.617+3G>A SNV Uncertain significance 626150 rs368997507 GRCh37: 17:46023762-46023762
GRCh38: 17:47946396-47946396
40 PNPO NM_018129.4(PNPO):c.11G>C (p.Trp4Ser) SNV Uncertain significance 642446 rs1466672254 GRCh37: 17:46019052-46019052
GRCh38: 17:47941686-47941686
41 PNPO NM_018129.4(PNPO):c.541C>T (p.Arg181Trp) SNV Uncertain significance 652581 rs878944960 GRCh37: 17:46023350-46023350
GRCh38: 17:47945984-47945984
42 PNPO NM_018129.4(PNPO):c.697C>T (p.Arg233Trp) SNV Uncertain significance 589871 rs139643093 GRCh37: 17:46024059-46024059
GRCh38: 17:47946693-47946693
43 PNPO NM_018129.4(PNPO):c.668C>T (p.Thr223Ile) SNV Uncertain significance 323910 rs886053101 GRCh37: 17:46024030-46024030
GRCh38: 17:47946664-47946664
44 PNPO NM_018129.4(PNPO):c.*200C>T SNV Uncertain significance 323913 rs761169544 GRCh37: 17:46024348-46024348
GRCh38: 17:47946982-47946982
45 PNPO NM_018129.4(PNPO):c.*1393G>A SNV Uncertain significance 323933 rs149121830 GRCh37: 17:46025541-46025541
GRCh38: 17:47948175-47948175
46 PNPO NM_018129.4(PNPO):c.*1757G>T SNV Uncertain significance 323936 rs886053109 GRCh37: 17:46025905-46025905
GRCh38: 17:47948539-47948539
47 PNPO NM_018129.4(PNPO):c.*738_*744TTCTTTT[3] Microsatellite Uncertain significance 323922 rs886053104 GRCh37: 17:46024881-46024882
GRCh38: 17:47947515-47947516
48 PNPO NM_018129.4(PNPO):c.*945C>T SNV Uncertain significance 323928 rs886053107 GRCh37: 17:46025093-46025093
GRCh38: 17:47947727-47947727
49 PNPO NM_018129.4(PNPO):c.*1777C>G SNV Uncertain significance 323937 rs886053110 GRCh37: 17:46025925-46025925
GRCh38: 17:47948559-47948559
50 PNPO NM_018129.4(PNPO):c.*72C>T SNV Uncertain significance 323911 rs535512907 GRCh37: 17:46024220-46024220
GRCh38: 17:47946854-47946854

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

72
# 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

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:

36
# Name Kegg Source Accession
1 Vitamin B6 metabolism hsa00750

GO Terms for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Cellular components related to Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.17 SPR QDPR PDXK DDC BTD ALPL

Biological processes related to Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.55 SPR QDPR PNPO ALDH7A1 ALDH4A1
2 cellular amino acid metabolic process GO:0006520 9.26 QDPR DDC
3 tetrahydrobiopterin biosynthetic process GO:0006729 8.96 SPR QDPR
4 vitamin B6 metabolic process GO:0042816 8.62 PNPO PDXK

Molecular functions related to Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.35 SPR QDPR PNPO ALDH7A1 ALDH4A1
2 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 9.26 ALDH7A1 ALDH4A1
3 aldehyde dehydrogenase (NAD) activity GO:0004029 9.16 ALDH7A1 ALDH4A1
4 pyridoxal phosphate binding GO:0030170 8.92 PNPO PLPBP PDXK DDC

Sources for Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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