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:
50OMIM, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Epilepsy, Pyridoxine-Dependent:

Name: Epilepsy, Pyridoxine-Dependent 50 24 12 66
Pyridoxine-Dependent Epilepsy 22 46 23 24 52 68 25
Vitamin B6-Dependent Seizures 22 46 23 24 52
Pyridoxine Dependency 22 46 23 24
Pyridoxine-Dependent Seizures 22 23 24
 
Pyridoxine Dependency with Seizures 46 24
Antiquitin Deficiency 46 52
Pde 24 68
Aasa Dehydrogenase Deficiency 24
Epd 24

Characteristics:

Orphanet epidemiological data:

52
pyridoxine-dependent epilepsy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Infancy,Neonatal; Age of death: any age,normal life expectancy

HPO:

62
epilepsy, pyridoxine-dependent:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 266100
Orphanet52 ORPHA3006
ICD10 via Orphanet29 G40.8
MESH via Orphanet38 C536254
UMLS via Orphanet67 C1291560, C1849508
MedGen35 C1849508

Summaries for Epilepsy, Pyridoxine-Dependent

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NIH Rare Diseases:46 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 epilepsy and microcephaly, and has symptoms including seizures, abnormality of metabolism/homeostasis and neurological speech impairment. An important gene associated with Epilepsy, Pyridoxine-Dependent is ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1).

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:50 Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first... (266100) more...

GeneReviews summary for NBK1486

Related Diseases for Epilepsy, Pyridoxine-Dependent

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Diseases related to Epilepsy, Pyridoxine-Dependent via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy10.3
2microcephaly10.1
3hypophosphatasia10.0
4folinic acid-responsive seizures10.0
5chronic lymphocytic leukemia10.0
6leukemia10.0
7retinitis10.0
8retinal degeneration10.0
9ovarian cancer10.0
10postpartum depression10.0
11neuroblastoma9.8
12lung cancer9.8
13asthma9.8
14becker muscular dystrophy9.8
15night blindness9.8
16muscular dystrophy9.8

Graphical network of 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:

 52 (show all 13)
  • strabismus
  • intellectual disability
  • seizures
  • muscular hypotonia
  • global developmental delay
  • abnormality of metabolism/homeostasis
  • ventriculomegaly
  • cerebral cortical atrophy
  • status epilepticus
  • neurological speech impairment
  • hepatomegaly
  • eeg abnormality
  • abnormality of movement

HPO human phenotypes related to Epilepsy, Pyridoxine-Dependent:

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

UMLS symptoms related to Epilepsy, Pyridoxine-Dependent:


seizures

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
1lysineNutraceutical81
2arginineNutraceutical393

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 Epilepsy25 23 ALDH7A1

Anatomical Context for Epilepsy, Pyridoxine-Dependent

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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:

68
id Symbol AA change Variation ID SNP ID
1ALDH7A1p.Ala199ValVAR_031718rs121912709
2ALDH7A1p.Glu427GlnVAR_031719rs121912707
3ALDH7A1p.Gly202ValVAR_069184
4ALDH7A1p.Gly291GluVAR_069185
5ALDH7A1p.Asn301IleVAR_069186rs121912711
6ALDH7A1p.Arg335GlnVAR_069187rs754449549
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> G (p.Asn195Ser)single nucleotide variantPathogenicrs372660425GRCh38Chr 5, 126577145: 126577145
12ALDH7A1NM_001182.4(ALDH7A1): c.1193G> T (p.Gly398Val)single nucleotide variantPathogenicrs864622557GRCh38Chr 5, 126554294: 126554294
13ALDH7A1NM_001182.4(ALDH7A1): c.986G> A (p.Arg329Lys)single nucleotide variantPathogenicrs864622558GRCh38Chr 5, 126559262: 126559262

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet