Epilepsy, early-onset, 1, vitamin b6-dependent

Preferred Label : Epilepsy, early-onset, 1, vitamin b6-dependent;

Symbol : EPEO1;

CISMeF acronym : EPVB6D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EPVB6D;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pyridoxal phosphate-binding protein gene (PLBP, 604436.0001);

Laboratory abnormalities : Increased lactate (in some patients);

Prefixed ID : #617290;

Details

Origin ID

617290;

UMLS CUI

C4310632;

Currated CISMeF NLP mapping
- early-onset vitamin B6-dependent epilepsy 1 [DO Concept]
DO Cross reference
- early-onset vitamin B6-dependent epilepsy 1 [DO Concept]
Genes related to phenotype
- Pyridoxal phosphate-binding protein [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Brain atrophy [HPO term]
- Clonic seizure [HPO term]
- Clonus [HPO term]
- Delayed speech and language development [HPO term]
- EEG with burst suppression [HPO term]
- Esodeviation [HPO term]
- Fetal distress [HPO term]
- Global developmental delay [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Increased circulating lactate concentration [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Long philtrum [HPO term]
- Metabolic acidosis [HPO term]
- Motor delay [HPO term]
- Myoclonic seizure [HPO term]
- Myoclonus [HPO term]
- Neonatal onset [HPO term]
- Periorbital fullness [HPO term]
- Poor speech [HPO term]
- Respiratory insufficiency [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Thin upper lip vermilion [HPO term]
- Tonic seizure [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Pyridoxine-dependent-developmental and epileptic encephalopathy [ORDO Disease]
See also inter- (CISMeF)
- Early-Onset Vitamin B6-Dependent Epilepsy-4 [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Pyridoxine-dependent epilepsy [MeSH concept]
- Pyridoxine-dependent epilepsy (disorder) [SNOMED CT concept]
- Pyridoxine-dependent-developmental and epileptic encephalopathy [ORDO Disease]
- pyridoxine-dependent epilepsy [DO Concept]
- pyridoxine-dependent epilepsy [MeSH Supplementary Concept]

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