PDE
MCID: EPL131
MIFTS: 32

Epilepsy, Pyridoxine-Dependent (PDE) malady

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

Aliases & Classifications for Epilepsy, Pyridoxine-Dependent

Aliases & Descriptions for Epilepsy, Pyridoxine-Dependent:

Name: Epilepsy, Pyridoxine-Dependent 54 25 13 69
Pyridoxine-Dependent Epilepsy 23 50 24 25 56 66 29
Vitamin B6-Dependent Seizures 23 50 24 25 56
Pyridoxine Dependency 23 50 24 25
Pyridoxine-Dependent Seizures 23 24 25
Pyridoxine Dependency with Seizures 50 25
Antiquitin Deficiency 50 56
Pde 25 66
Aasa Dehydrogenase Deficiency 25
Epd 25

Characteristics:

Orphanet epidemiological data:

56
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:

32
epilepsy, pyridoxine-dependent:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 266100
Orphanet 56 ORPHA3006
MESH via Orphanet 43 C536254
ICD10 via Orphanet 34 G40.8
UMLS via Orphanet 70 C1291560 C1849508
MedGen 40 C1849508

Summaries for Epilepsy, Pyridoxine-Dependent

NIH Rare Diseases : 50 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 intellectual disability, muscular hypotonia and neurological speech impairment. An important gene associated with Epilepsy, Pyridoxine-Dependent is ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1). The drugs lysine and arginine have been mentioned in the context of this disorder.

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

UniProtKB/Swiss-Prot : 66 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: NBK1486

Related Diseases for Epilepsy, Pyridoxine-Dependent

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

(show all 14)
id Related Disease Score Top Affiliating Genes
1 epilepsy 10.3
2 microcephaly 10.0
3 hypophosphatasia 9.9
4 folinic acid-responsive seizures 9.9
5 chronic lymphocytic leukemia 9.8
6 leukemia 9.8
7 retinitis 9.8
8 retinal degeneration 9.8
9 ovarian cancer 9.8
10 postpartum depression 9.8
11 neuroblastoma 9.7
12 lung cancer 9.7
13 asthma 9.7
14 becker muscular dystrophy 9.7

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



Diseases related to Epilepsy, Pyridoxine-Dependent

Symptoms & Phenotypes for Epilepsy, Pyridoxine-Dependent

Symptoms by clinical synopsis from OMIM:

266100

Clinical features from OMIM:

266100

Human phenotypes related to Epilepsy, Pyridoxine-Dependent:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
2 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
3 neurological speech impairment 56 32 Very frequent (99-80%) HP:0002167
4 eeg abnormality 56 32 Very frequent (99-80%) HP:0002353
5 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
6 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
7 abnormality of metabolism/homeostasis 56 32 Very frequent (99-80%) HP:0001939
8 abnormality of movement 56 32 Very frequent (99-80%) HP:0100022
9 strabismus 56 32 Occasional (29-5%) HP:0000486
10 ventriculomegaly 56 32 Occasional (29-5%) HP:0002119
11 cerebral cortical atrophy 56 32 Occasional (29-5%) HP:0002120
12 status epilepticus 56 32 Very frequent (99-80%) HP:0002133
13 seizures 56 Very frequent (99-80%)
14 respiratory distress 32 HP:0002098
15 delayed speech and language development 32 HP:0000750
16 generalized myoclonic seizures 32 HP:0002123
17 generalized tonic-clonic seizures 32 HP:0002069
18 prenatal movement abnormality 32 HP:0001557
19 neonatal respiratory distress 32 HP:0002643

UMLS symptoms related to Epilepsy, Pyridoxine-Dependent:


seizures

Drugs & Therapeutics for Epilepsy, Pyridoxine-Dependent

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 lysine Nutraceutical
2 arginine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Lysine Oxidation in Response to Arginine Supplementation Active, not recruiting NCT02499926
2 Neurodevelopmental Outcome of Early Dietary Lysine Restriction in Pyridoxine Dependent Epilepsy Patients Withdrawn NCT01795170

Search NIH Clinical Center for Epilepsy, Pyridoxine-Dependent

Genetic Tests for Epilepsy, Pyridoxine-Dependent

Genetic tests related to Epilepsy, Pyridoxine-Dependent:

id Genetic test Affiliating Genes
1 Pyridoxine-Dependent Epilepsy 29 24 ALDH7A1

Anatomical Context for Epilepsy, Pyridoxine-Dependent

Publications for Epilepsy, Pyridoxine-Dependent

Variations for Epilepsy, Pyridoxine-Dependent

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

66
id Symbol AA change Variation ID SNP ID
1 ALDH7A1 p.Ala199Val VAR_031718 rs121912709
2 ALDH7A1 p.Glu427Gln VAR_031719 rs121912707
3 ALDH7A1 p.Gly202Val VAR_069184
4 ALDH7A1 p.Gly291Glu VAR_069185
5 ALDH7A1 p.Asn301Ile VAR_069186 rs121912711
6 ALDH7A1 p.Arg335Gln VAR_069187 rs754449549
7 ALDH7A1 p.Val395Gly VAR_069188
8 ALDH7A1 p.Ser458Asn VAR_069189

ClinVar genetic disease variations for Epilepsy, Pyridoxine-Dependent:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 ALDH7A1 NM_001182.4(ALDH7A1): c.1279G> C (p.Glu427Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121912707 GRCh37 Chromosome 5, 125887751: 125887751
2 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh37 Chromosome 5, 125919689: 125919689
3 ALDH7A1 ALDH7A1, IVS5AS, G-C, -1 single nucleotide variant Pathogenic
4 ALDH7A1 ALDH7A1, IVS3DS, T-A, +2 single nucleotide variant Pathogenic
5 ALDH7A1 NM_001182.4(ALDH7A1): c.596C> T (p.Ala199Val) single nucleotide variant Pathogenic rs121912709 GRCh37 Chromosome 5, 125912825: 125912825
6 ALDH7A1 NM_001182.4(ALDH7A1): c.1597delG (p.Ala533Profs) deletion Pathogenic rs387906574 GRCh37 Chromosome 5, 125880680: 125880680
7 ALDH7A1 NM_001182.4(ALDH7A1): c.1224T> G (p.Tyr408Ter) single nucleotide variant Pathogenic rs121912710 GRCh37 Chromosome 5, 125887806: 125887806
8 ALDH7A1 NM_001182.4(ALDH7A1): c.902A> T (p.Asn301Ile) single nucleotide variant Pathogenic rs121912711 GRCh37 Chromosome 5, 125896786: 125896786
9 ALDH7A1 ALDH7A1, 750G-A single nucleotide variant Pathogenic
10 ALDH7A1 NM_001182.4(ALDH7A1): c.1093+1G> A single nucleotide variant Pathogenic rs794727058 GRCh37 Chromosome 5, 125891622: 125891622
11 ALDH7A1 NM_001182.4(ALDH7A1): c.1193G> T (p.Gly398Val) single nucleotide variant Pathogenic rs864622557 GRCh37 Chromosome 5, 125889986: 125889986
12 ALDH7A1 NM_001182.4(ALDH7A1): c.986G> A (p.Arg329Lys) single nucleotide variant Pathogenic rs864622558 GRCh38 Chromosome 5, 126559262: 126559262
13 ALDH7A1 NM_001182.4(ALDH7A1): c.584A> G (p.Asn195Ser) single nucleotide variant Pathogenic rs372660425 GRCh37 Chromosome 5, 125912837: 125912837
14 ALDH7A1 NM_001182.4(ALDH7A1): c.247-1G> C single nucleotide variant Likely pathogenic rs1060502949 GRCh38 Chromosome 5, 126592730: 126592730
15 ALDH7A1 NM_001182.4(ALDH7A1): c.530C> A (p.Ala177Glu) single nucleotide variant Pathogenic rs764417585 GRCh38 Chromosome 5, 126577199: 126577199

Expression for Epilepsy, Pyridoxine-Dependent

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

Pathways for Epilepsy, Pyridoxine-Dependent

GO Terms for Epilepsy, Pyridoxine-Dependent

Sources for Epilepsy, Pyridoxine-Dependent

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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