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:
12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Epilepsy, Pyridoxine-Dependent:

Name: Epilepsy, Pyridoxine-Dependent 52 25 12 68
Pyridoxine-Dependent Epilepsy 23 48 24 25 54 70 27
Vitamin B6-Dependent Seizures 23 48 24 25 54
Pyridoxine Dependency 23 48 24 25
Pyridoxine-Dependent Seizures 23 24 25
 
Pyridoxine Dependency with Seizures 48 25
Antiquitin Deficiency 48 54
Pde 25 70
Aasa Dehydrogenase Deficiency 25
Epd 25

Characteristics:

Orphanet epidemiological data:

54
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:

64
epilepsy, pyridoxine-dependent:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 266100
Orphanet54 ORPHA3006
MESH via Orphanet40 C536254
ICD10 via Orphanet31 G40.8
UMLS via Orphanet69 C1291560, C1849508
MedGen37 C1849508

Summaries for Epilepsy, Pyridoxine-Dependent

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NIH Rare Diseases:48 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).

Genetics Home Reference:25 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:52 Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first... (266100) more...

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 Pyridoxine-dependent epilepsy (PDE), also referred to as pyridoxine-dependent seizure (PDS) or vitamin... more...

GeneReviews 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 13)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy10.2
2microcephaly10.0
3folinic acid-responsive seizures9.9
4chronic lymphocytic leukemia9.8
5leukemia9.8
6retinitis9.8
7retinal degeneration9.8
8ovarian cancer9.8
9postpartum depression9.8
10neuroblastoma9.7
11lung cancer9.7
12asthma9.7
13becker muscular dystrophy9.7

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



Diseases related to epilepsy, pyridoxine-dependent

Symptoms & Phenotypes for Epilepsy, Pyridoxine-Dependent

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Symptoms by clinical synopsis from OMIM:

266100

Clinical features from OMIM:

266100

Human phenotypes related to Epilepsy, Pyridoxine-Dependent:

 64 54 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures64 54 hallmark (90%) Very frequent (99-80%) HP:0001250
2 abnormality of metabolism/homeostasis64 54 hallmark (90%) Very frequent (99-80%) HP:0001939
3 neurological speech impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0002167
4 eeg abnormality64 54 hallmark (90%) Very frequent (99-80%) HP:0002353
5 abnormality of movement64 54 hallmark (90%) Very frequent (99-80%) HP:0100022
6 cognitive impairment64 hallmark (90%) HP:0100543
7 muscular hypotonia64 54 typical (50%) Frequent (79-30%) HP:0001252
8 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
9 ventriculomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0002119
10 cerebral cortical atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0002120
11 hepatomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0002240
12 delayed speech and language development64 HP:0000750
13 intellectual disability64 54 Very frequent (99-80%) HP:0001249
14 prenatal movement abnormality64 HP:0001557
15 generalized tonic-clonic seizures64 HP:0002069
16 respiratory distress64 HP:0002098
17 generalized myoclonic seizures64 HP:0002123
18 status epilepticus64 54 Very frequent (99-80%) HP:0002133
19 neonatal respiratory distress64 HP:0002643
20 global developmental delay54 Very frequent (99-80%)

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
1lysineNutraceutical90
2arginineNutraceutical408

Interventional clinical trials:

idNameStatusNCT IDPhase
1Lysine Oxidation in Response to Arginine SupplementationActive, not recruitingNCT02499926
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 Epilepsy27 24 ALDH7A1

Anatomical Context for Epilepsy, Pyridoxine-Dependent

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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:

70
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)SNVLikely pathogenic, Pathogenicrs121912707GRCh37Chr 5, 125887751: 125887751
2ALDH7A1NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter)SNVPathogenicrs121912708GRCh37Chr 5, 125919689: 125919689
3ALDH7A1ALDH7A1, IVS5AS, G-C, -1SNVPathogenicChr na, -1: -1
4ALDH7A1ALDH7A1, IVS3DS, T-A, +2SNVPathogenicChr na, -1: -1
5ALDH7A1NM_001182.4(ALDH7A1): c.596C> T (p.Ala199Val)SNVPathogenicrs121912709GRCh37Chr 5, 125912825: 125912825
6ALDH7A1NM_001182.4(ALDH7A1): c.1597delG (p.Ala533Profs)deletionPathogenicrs387906574GRCh37Chr 5, 125880680: 125880680
7ALDH7A1NM_001182.4(ALDH7A1): c.1224T> G (p.Tyr408Ter)SNVPathogenicrs121912710GRCh37Chr 5, 125887806: 125887806
8ALDH7A1NM_001182.4(ALDH7A1): c.902A> T (p.Asn301Ile)SNVPathogenicrs121912711GRCh37Chr 5, 125896786: 125896786
9ALDH7A1ALDH7A1, 750G-ASNVPathogenicChr na, -1: -1
10ALDH7A1NM_001182.4(ALDH7A1): c.1093+1G> ASNVPathogenicrs794727058GRCh37Chr 5, 125891622: 125891622
11ALDH7A1NM_001182.4(ALDH7A1): c.584A> G (p.Asn195Ser)SNVPathogenicrs372660425GRCh37Chr 5, 125912837: 125912837
12ALDH7A1NM_001182.4(ALDH7A1): c.1193G> T (p.Gly398Val)SNVPathogenicrs864622557GRCh37Chr 5, 125889986: 125889986
13ALDH7A1NM_001182.4(ALDH7A1): c.986G> A (p.Arg329Lys)SNVPathogenicrs864622558GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet