MCID: EPL131
MIFTS: 33

Epilepsy, Pyridoxine-Dependent malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Summaries for Epilepsy, Pyridoxine-Dependent

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NIH Rare Diseases:41 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 glutamate decarboxylase deficiency and status epilepticus, 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). Affiliated tissues include liver.

Genetics Home Reference:21 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:45 Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first... (266100) more...

GeneReviews summary for pds

Aliases & Classifications for Epilepsy, Pyridoxine-Dependent

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Epilepsy, Pyridoxine-Dependent, Aliases & Descriptions:

Name: Epilepsy, Pyridoxine-Dependent 45 10 21 60
Pyridoxine-Dependent Epilepsy 19 41 20 21 47 22
Vitamin B6-Dependent Seizures 19 41 21
Pyridoxine Dependency 19 41 21
Pyridoxine Dependency with Seizures 41 21
Pyridoxine-Dependent Seizures 19 21
 
Glutamate Decarboxylase Deficiency 47
Pyridoxine-Responsive Seizures 47
Vitamin B6-Responsive Seizures 47
Aasa Dehydrogenase Deficiency 21
Epd 21
Pde 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
pyridoxine-dependent epilepsy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 266100
Orphanet47 3006
MESH via Orphanet34 C536254
ICD10 via Orphanet26 G40.8
UMLS via Orphanet61 C1291560, C1849508

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:

 47 (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 22)
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 autosomal recessive inheritance HP:0000007
13 delayed speech and language development HP:0000750
14 intellectual disability HP:0001249
15 muscular hypotonia HP:0001252
16 prenatal movement abnormality HP:0001557
17 abnormality of metabolism/homeostasis HP:0001939
18 generalized tonic-clonic seizures HP:0002069
19 respiratory distress HP:0002098
20 generalized myoclonic seizures HP:0002123
21 status epilepticus HP:0002133
22 neonatal respiratory distress HP:0002643

Drugs & Therapeutics for Epilepsy, Pyridoxine-Dependent

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Drug clinical trials:

Search ClinicalTrials for Epilepsy, Pyridoxine-Dependent

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 Epilepsy20 22 ALDH7A1

Anatomical Context for Epilepsy, Pyridoxine-Dependent

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

31
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:

62
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ALDH7A1NM_001182.4(ALDH7A1): c.1279G> C (p.Glu427Gln)single nucleotide variantPathogenicrs121912707GRCh37Chr 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

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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Compounds for genes affiliated with Epilepsy, Pyridoxine-Dependent

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GO Terms for genes affiliated with Epilepsy, Pyridoxine-Dependent

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Products for genes affiliated with Epilepsy, Pyridoxine-Dependent

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Sources for Epilepsy, Pyridoxine-Dependent

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet