MCID: EPL131
MIFTS: 32

Epilepsy, Pyridoxine-Dependent malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Epilepsy, Pyridoxine-Dependent

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Sources:
49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Epilepsy, Pyridoxine-Dependent:

Name: Epilepsy, Pyridoxine-Dependent 49 11 23 65
Pyridoxine-Dependent Epilepsy 21 45 22 23 51 67 24
Vitamin B6-Dependent Seizures 21 45 22 23 51
Pyridoxine Dependency 21 45 22 23
Pyridoxine-Dependent Seizures 21 22 23
 
Pyridoxine Dependency with Seizures 45 23
Antiquitin Deficiency 45 51
Pde 23 67
Aasa Dehydrogenase Deficiency 23
Epd 23

Characteristics:

Orphanet epidemiological data:

51
pyridoxine-dependent epilepsy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal

HPO:

61
epilepsy, pyridoxine-dependent:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 266100
Orphanet51 3006
ICD10 via Orphanet28 G40.8
MESH via Orphanet37 C536254
UMLS via Orphanet66 C1291560, C1849508
MedGen34 C1849508
UMLS65 C1849508

Summaries for Epilepsy, Pyridoxine-Dependent

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NIH Rare Diseases:45 Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. those affected typically experience prolonged seizures lasting several minutes (status epilepticus). these seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin b6 found in food). mutations in the aldh7a1 gene cause pyridoxine-dependent epilepsy. this gene is inherited in an autosomal recessive fashion. last updated: 7/23/2013

MalaCards based summary: Epilepsy, Pyridoxine-Dependent, also known as pyridoxine-dependent epilepsy, is related to hyperpipecolatemia and acute graft versus host disease, and has symptoms including cognitive impairment, abnormality of movement and eeg abnormality. An important gene associated with Epilepsy, Pyridoxine-Dependent is ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1). Affiliated tissues include liver.

Genetics Home Reference:23 Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old.

OMIM:49 Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first... (266100) more...

UniProtKB/Swiss-Prot:67 Pyridoxine-dependent epilepsy: Characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.

GeneReviews summary for NBK1486

Related Diseases for Epilepsy, Pyridoxine-Dependent

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Graphical network of the top 20 diseases related to Epilepsy, Pyridoxine-Dependent:



Diseases related to epilepsy, pyridoxine-dependent

Symptoms for Epilepsy, Pyridoxine-Dependent

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Symptoms by clinical synopsis from OMIM:

266100

Clinical features from OMIM:

266100

Symptoms:

 51 (show all 12)
  • eeg anomalies
  • movement disorder
  • seizures/epilepsy/absences/spasms/status epilepticus
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • metabolic anomalies
  • autosomal recessive inheritance
  • hypotonia
  • strabismus/squint
  • hepatomegaly/liver enlargement (excluding storage disease)
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy

HPO human phenotypes related to Epilepsy, Pyridoxine-Dependent:

(show all 21)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 abnormality of movement hallmark (90%) HP:0100022
3 eeg abnormality hallmark (90%) HP:0002353
4 neurological speech impairment hallmark (90%) HP:0002167
5 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
6 seizures hallmark (90%) HP:0001250
7 muscular hypotonia typical (50%) HP:0001252
8 hepatomegaly occasional (7.5%) HP:0002240
9 cerebral cortical atrophy occasional (7.5%) HP:0002120
10 ventriculomegaly occasional (7.5%) HP:0002119
11 strabismus occasional (7.5%) HP:0000486
12 neonatal respiratory distress HP:0002643
13 status epilepticus HP:0002133
14 generalized myoclonic seizures HP:0002123
15 respiratory distress HP:0002098
16 generalized tonic-clonic seizures HP:0002069
17 abnormality of metabolism/homeostasis HP:0001939
18 prenatal movement abnormality HP:0001557
19 muscular hypotonia HP:0001252
20 intellectual disability HP:0001249
21 delayed speech and language development HP:0000750

Drugs & Therapeutics for Epilepsy, Pyridoxine-Dependent

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Drugs for Epilepsy, Pyridoxine-Dependent (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1lysineNutraceutical77
2arginineNutraceutical364

Interventional clinical trials:

idNameStatusNCT IDPhase
1Lysine Oxidation in Response to Arginine SupplementationRecruitingNCT02499926
2Neurodevelopmental Outcome of Early Dietary Lysine Restriction in Pyridoxine Dependent Epilepsy PatientsWithdrawnNCT01795170

Search NIH Clinical Center for Epilepsy, Pyridoxine-Dependent

Genetic Tests for Epilepsy, Pyridoxine-Dependent

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Genetic tests related to Epilepsy, Pyridoxine-Dependent:

id Genetic test Affiliating Genes
1 Pyridoxine-Dependent Epilepsy22 ALDH7A1

Anatomical Context for Epilepsy, Pyridoxine-Dependent

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MalaCards organs/tissues related to Epilepsy, Pyridoxine-Dependent:

33
Liver

Animal Models for Epilepsy, Pyridoxine-Dependent or affiliated genes

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Publications for Epilepsy, Pyridoxine-Dependent

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Variations for Epilepsy, Pyridoxine-Dependent

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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Pyridoxine-Dependent:

67
id Symbol AA change Variation ID SNP ID
1ALDH7A1p.Ala199ValVAR_031718
2ALDH7A1p.Glu427GlnVAR_031719rs121912707
3ALDH7A1p.Gly202ValVAR_069184
4ALDH7A1p.Gly291GluVAR_069185
5ALDH7A1p.Asn301IleVAR_069186
6ALDH7A1p.Arg335GlnVAR_069187
7ALDH7A1p.Val395GlyVAR_069188
8ALDH7A1p.Ser458AsnVAR_069189

Clinvar genetic disease variations for Epilepsy, Pyridoxine-Dependent:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1ALDH7A1NM_001182.4(ALDH7A1): c.1279G> C (p.Glu427Gln)single nucleotide variantLikely pathogenic, Pathogenicrs121912707GRCh37Chr 5, 125887751: 125887751
2ALDH7A1NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter)single nucleotide variantPathogenicrs121912708GRCh37Chr 5, 125919689: 125919689
3ALDH7A1ALDH7A1, IVS5AS, G-C, -1single nucleotide variantPathogenic
4ALDH7A1ALDH7A1, IVS3DS, T-A, +2single nucleotide variantPathogenic
5ALDH7A1NM_001182.4(ALDH7A1): c.596C> T (p.Ala199Val)single nucleotide variantPathogenicrs121912709GRCh37Chr 5, 125912825: 125912825
6ALDH7A1NM_001182.4(ALDH7A1): c.1597delG (p.Ala533Profs)deletionPathogenicrs387906574GRCh37Chr 5, 125880680: 125880680
7ALDH7A1NM_001182.4(ALDH7A1): c.1224T> G (p.Tyr408Ter)single nucleotide variantPathogenicrs121912710GRCh37Chr 5, 125887806: 125887806
8ALDH7A1NM_001182.4(ALDH7A1): c.902A> T (p.Asn301Ile)single nucleotide variantPathogenicrs121912711GRCh37Chr 5, 125896786: 125896786
9ALDH7A1ALDH7A1, 750G-Asingle nucleotide variantPathogenic
10ALDH7A1NM_001182.4(ALDH7A1): c.1093+1G> Asingle nucleotide variantPathogenicrs794727058GRCh37Chr 5, 125891622: 125891622
11ALDH7A1NM_001182.4(ALDH7A1): c.584A> Gsingle nucleotide variantPathogenicrs372660425GRCh37Chr 5, 125912837: 125912837
12ALDH7A1NM_001182.4(ALDH7A1): c.1193G> Tsingle nucleotide variantLikely pathogenicrs864622557GRCh38Chr 5, 126554294: 126554294
13ALDH7A1NM_001182.4(ALDH7A1): c.986G> Asingle nucleotide variantLikely pathogenicrs864622558GRCh37Chr 5, 125894954: 125894954

Expression for genes affiliated with Epilepsy, Pyridoxine-Dependent

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Search GEO for disease gene expression data for Epilepsy, Pyridoxine-Dependent.

Pathways for genes affiliated with Epilepsy, Pyridoxine-Dependent

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GO Terms for genes affiliated with Epilepsy, Pyridoxine-Dependent

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Sources for Epilepsy, Pyridoxine-Dependent

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet