ORPHA:3006
Pyridoxine-dependent-developmental and epileptic encephalopathy
Synonyms: Antiquitin deficiency · PD-DEE · Vitamin B6-dependent seizures
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyridoxine-dependent-developmental and epileptic encephalopathy | Antiquitin deficiency · PD-DEE · Vitamin B6-dependent seizures |
| fr | Encéphalopathie développementale et épileptique pyridoxino-dépendante | Déficit en antiquitine · Epilepsie vitamine B6-dépendante · PD-DEE |
| de | Pyridoxin-abhängige entwicklungsbedingte und epileptische Enzephalopathie | Antiquitin-Defizienz · Antiquitin-Mangel · PD-DEE · Pyridoxinabhängige Krämpfe (PDS) · Vitamin B6-abhängige Anfälle |
| es | Encefalopatía epiléptica y del desarrollo dependiente de piridoxina | Crisis dependientes de vitamina B6 · Deficiencia de antiquitina · EED dependiente de piridoxina |
| it | Epilessia dipendente dalla piridossina | Convulsioni dipendenti dalla vitamina B6 · Deficit di antiquitina |
| nl | Pyridoxineafhankelijke epileptische encefalopathie met ontwikkelingsstoornis | Antiquitinedeficiëntie · PD-DEE · Vitamine B6-afhankelijke insulten |
| pt | Encefalopatia epiléptica e do desenvolvimento piridoxina-dependente | Deficiência de antiquitina · Epilepsia sensível à vitamina B6 · PD-DEE |
| pl | Padaczka zależna od pirydoksyny | Napady padaczkowe zależne od witaminy B6 · Niedobór antykwityny |
| cs | Pyridoxin-dependentní epilepsie | Deficit antiquitinu · Pyridoxin-responzivní křeče |
| uk | Піридоксинзалежна епілепсія | Дефіцит антиквітину · Вітамін В6-залежні судоми |
| zh | 维生素B6依赖性癫痫 | 维生素B6依赖性癫痫 |
| tr | Piridoksine bağımlı epilepsi | Antikitin eksikliği · B6 vitaminine bağımlı nöbetler |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 266100 | BTNT | validated | |
| OMIM | 617290 | BTNT | validated | |
| ICD-10 | G40.8 | E | specific | validated |
| ICD-11 | 8A61.0Y | NTBT | index | validated |
| MONDO | 0009945 | E | validated | |
| MeSH | C536254 | E | validated | |
| UMLS | C1849508 | E | validated | |
| GARD | 9298 | 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 (5):
- 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALDH7A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:877 | ENSG00000164904 | 107323 | 5q23.2 | aldehyde dehydrogenase 7 family member A1 | 20301659[PMID] |
| PLPBP | Disease-causing germline mutation(s) in | Assessed | HGNC:9457 | ENSG00000147471 | 604436 | 8p11.23 | pyridoxal phosphate binding protein | 27912044[PMID] |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.13 / 100 000 | United Kingdom | Value and class | Validated | 10519720[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.25 / 100 000 | Netherlands | Value and class | Validated | 16159904[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | Germany | Value and class | Not yet validated | 10356240[PMID]_ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
35 annotations · validated 2021-04-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0010851 | EEG with burst suppression | |
| HP:0010845 | EEG with generalized slow activity | |
| HP:0011152 | Early onset absence seizures | |
| HP:0011968 | Feeding difficulties | |
| HP:0025116 | Fetal distress | |
| HP:0020217 | Focal aware motor seizure | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000737 | Irritability | |
| HP:0030917 | Low APGAR score | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001557 | Prenatal movement abnormality | |
| HP:0002133 | Status epilepticus | |
| Occasional (29-5%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0010819 | Atonic seizure | |
| HP:0012444 | Brain atrophy | |
| HP:0002188 | Delayed CNS myelination | |
| HP:0011198 | EEG with generalized epileptiform discharges | |
| HP:0011199 | EEG with generalized sharp slow waves | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0011097 | Epileptic spasm | |
| HP:0000273 | Facial grimacing | |
| HP:0011166 | Focal myoclonic seizure | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0001249 | Intellectual disability | |
| HP:0012420 | Meconium stained amniotic fluid | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0012768 | Neonatal asphyxia | |
| HP:0000711 | Restlessness | |
| HP:0002119 | Ventriculomegaly | |
| HP:0012704 | Widened subarachnoid space | |
| Very rare (<4-1%) | ||
| HP:0001943 | Hypoglycemia | |
| HP:0003128 | Lactic acidosis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 31737911[PMID]_33200442[PMID]_20301659[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3006
- This record as JSON: /data/d/3006.json