Epilepsy, early-onset, 4, vitamin b6-dependent

Preferred Label : Epilepsy, early-onset, 4, vitamin b6-dependent;

Symbol : EPEO4;

CISMeF acronym : EPD; PDE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pyridoxine-dependent epilepsy; PDE; Aasa dehydrogenase deficiency; Pyridoxine dependency with seizures; Epilepsy, pyridoxine-dependent; EPD;

Description : Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000 (Bennett et al., 2005).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aldehyde dehydrogenase 7 family, member A1 gene (ALDH7A1, 107323.0001);

Laboratory abnormalities : Increased serum and cerebrospinal fluid levels of pipecolic acid; Increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde;

Prefixed ID : #266100;

Détails

Origin ID

266100;

UMLS CUI

C1849508;

Automatic exact mappings (from CISMeF team)
- 3',5'-cyclic-nucleotide phosphodiesterase activity [GO term]
- EPD ID [EDAM data]
- aldehyde dehydrogenase 7 family member A1 [ORDO Gene]
- aldehyde dehydrogenase 7 family member A1 [HGNC gene]
- phosphoric diester hydrolases [MeSH concept]
- phosphoric diester hydrolases [MeSH Descriptor]
- pyridoxine-dependent epilepsy [DO Concept]
Currated CISMeF NLP mapping
- Pyridoxine-dependent epilepsy [MeSH concept]
- Pyridoxine-dependent epilepsy [ORDO Disease]
- Pyridoxine-dependent epilepsy (disorder) [SNOMED CT concept]
- pyridoxine-dependent epilepsy [MeSH Supplementary Concept]
DO Cross reference
- pyridoxine-dependent epilepsy [DO Concept]
Genes related to phenotype
- Aldehyde dehydrogenase 7 family, member a1 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Delayed speech and language development [HPO term]
- Epilepsy [HPO term]
- Fetal distress [HPO term]
- Generalized hypotonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Neonatal respiratory distress [HPO term]
- Prenatal movement abnormality [HPO term]
- Respiratory distress [HPO term]
- Speech delay [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- Pyridoxine-dependent epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyridoxine-dependent epilepsy [ORDO Disease]
- Pyridoxine-dependent epilepsy [MeSH concept]
- Pyridoxine-dependent epilepsy (disorder) [SNOMED CT concept]
- pyridoxine-dependent epilepsy [MeSH Supplementary Concept]

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