ORPHA:79096
Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
Synonyms: P5PD-DEE · PNPO-related neonatal epileptic encephalopathy · Pyridoxal phosphate-dependent seizures · Pyridoxal phosphate-responsive seizures · Pyridoxamine 5'-phosphate oxidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy | P5PD-DEE · PNPO-related neonatal epileptic encephalopathy · Pyridoxal phosphate-dependent seizures · Pyridoxal phosphate-responsive seizures · Pyridoxamine 5'-phosphate oxidase deficiency |
| fr | Encéphalopathie développementale et épileptique pyridoxal-phosphate dépendante | Convulsions sensibles au phosphate de pyridoxal · Encéphalopathie épileptique néonatale associée à PNPO · P5PD-DEE |
| de | Pyridoxalphosphat-abhängige entwicklungsbedingte und epileptische Enzephalopathie | P5PD-DEE · PNPO-Mangel · PNPO-assoziierte neonatale epileptische Enzephalopathie · Pyridoxal-Phosphat-abhängige Krämpfe · Pyridoxalphosphat-abhängige Krämpfe · Pyridoxamin-5'-phosphat-Oxidase-Mangel |
| es | Encefalopatía epiléptica y del desarrollo por deficiencia de piridoxamina-5-fosfato | Crisis dependientes de piridoxal fosfato · Crisis sensibles al piridoxal fosfato · Deficiencia de piridoxamina 5'-fosfato oxidasa · EED-P5PD · Encefalopatía epiléptica neonatal asociada a PNPO |
| it | Convulsioni sensibili al piridossal fosfato | Convulsioni dipendenti dal piridossal fosfato · Deficit di piridossamina 5'-fosfato ossidasi · Encefalopatia epilettica neonatale associata a PNPO |
| nl | Deficiëntie van pyridoxamine-5-fosfaat - epileptische encefalopathie met ontwikkelingsstoornis | Deficiëntie van pyridoxamine 5´-fosfaatoxidase · P5PD-DEE · PNPO-gerelateerde neonatale epileptische encefalopathie · Pyridoxaalfosfaatafhankelijke insulten · Pyridoxaalfosfaatresponsieve insulten |
| pt | Encefalopatia epiléptica e do desenvolvimento devido a deficiência de piridoxamina-5-fosfato | Convulsões piridoxal-fosfato dependentes · Convulsões sensíveis ao piridoxal-fosfato · Deficiência de piridoxamina-5-fosfato oxidase · Encefalopatia epilética neonatal PNPO-relacionada · P5PD-DEE |
| pl | Napady reagujące na fosforan pirydoksalu | Napady zależne od fosforanu pirydoksalu · Niedobór 5'-oksydazy pirydoksaminy · Niedobór oksydazy 5'-fosforanu pirydoksyaminy · Niedobór PNPO · Noworodkowa encefalopatia epileptyczna związana z PNPO |
| cs | Křeče reagující na pyridoxal-fosfát | Deficit PNPO · Pyridoxal-fosfát dependentní epilepsie · Deficit pyridoxamin 5´ oxidázy · Deficit pyridox(am)in 5´-fosfát oxidázy · Neonatální epileptická encefalopatie podmíněná mutacemi v PNPO genu |
| uk | Судоми, чутливі до піридоксальфосфату | Дефіцит PNPO · Неонатальна епілептична енцефалопатія, повязана з PNPO · Піридоксальфосфат-залежні судоми · Дефіцит піридоксамін 5-оксидази · Дефіцит піридоксамін 5-фосфат-оксидази |
| zh | 磷酸吡哆醛反应性癫痫 | PNPO相关性新生儿癫痫性脑病 |
| tr | Piridoksal fosfata duyarlı nöbetler | PNPO eksikliği · Piridoksamin 5'-oksidaz eksikliği · Piridoksal fosfata bağımlı nöbetler · Piridoksamin 5'-fosfat oksidaz eksikliği · PNPO-ilişkili yenidoğan epileptik ensefalopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610090 | E | validated | |
| ICD-10 | G40.8 | NTBT | attributed | validated |
| ICD-11 | 5C63.Y | NTBT | index | validated |
| MONDO | 0012407 | E | validated | |
| MeSH | C566449 | E | validated | |
| UMLS | C1864723 | E | validated | |
| GARD | 10730 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:309833Disorder of other vitamins and cofactors metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:79192Disorder of pyridoxine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:225707Metabolic neurotransmission anomaly with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:693802Neonatal/infantile-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PNPO | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30260 | ENSG00000108439 | 603287 | 17q21.32 | pyridoxamine 5'-phosphate oxidase | 15772097[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | European Medicines Agency 2018[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
29 annotations · validated 2018-09-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0200134 | Epileptic encephalopathy | |
| HP:0002133 | Status epilepticus | |
| Frequent (79-30%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0001560 | Abnormality of the amniotic fluid | |
| HP:0008936 | Axial hypotonia | |
| HP:0003785 | Decreased CSF homovanillic acid concentration | |
| HP:0010851 | EEG with burst suppression | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002283 | Global brain atrophy | |
| HP:0001263 | Global developmental delay | |
| HP:0025430 | High-pitched cry | |
| HP:0001276 | Hypertonia | |
| HP:0005961 | Hypoargininemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0030917 | Low APGAR score | |
| HP:0001942 | Metabolic acidosis | |
| HP:0001336 | Myoclonus | |
| HP:0001622 | Premature birth | |
| HP:0001250 | Seizure | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0010904 | Abnormal circulating histidine concentration | |
| HP:0010909 | Abnormality of arginine metabolism | |
| HP:0010895 | Abnormality of glycine metabolism | |
| HP:0010900 | Abnormality of threonine metabolism | |
| HP:0010917 | Abnormality of tyrosine metabolism | |
| HP:0000252 | Microcephaly | |
| HP:0005522 | Pyridoxine-responsive sideroblastic anemia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 12747882[PMID]_24645144[PMID]_24658933[PMID]_12200739[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79096
- This record as JSON: /data/d/79096.json