JAE
MCID: EPL054
MIFTS: 23

Epilepsy, Juvenile Absence, Susceptibility to, 1 (JAE) malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Epilepsy, Juvenile Absence, Susceptibility to, 1

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MalaCards based summary: Epilepsy, Juvenile Absence, Susceptibility to, 1, also known as juvenile absence epilepsy, is related to juvenile absence epilepsy and succinic semialdehyde dehydrogenase deficiency, and has symptoms including An important gene associated with Epilepsy, Juvenile Absence, Susceptibility to, 1 is EFHC1 (EF-hand domain (C-terminal) containing 1). The drugs sodium valproate and valproic acid have been mentioned in the context of this disorder.

Description from OMIM:46 607631

Aliases & Classifications for Epilepsy, Juvenile Absence, Susceptibility to, 1

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Sources:
48Orphanet, 62UMLS, 20GeneTests, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Epilepsy, Juvenile Absence, Susceptibility to, 1, Aliases & Descriptions:

Name: Epilepsy, Juvenile Absence, Susceptibility to, 1 20
Juvenile Absence Epilepsy 48 62
 
Epilepsy, Juvenile Absence 1 46
Jae 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
juvenile absence epilepsy:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Childhood


External Ids:

OMIM46 607631
MESH via Orphanet35 C535495
ICD10 via Orphanet26 G40.3
UMLS via Orphanet63 C2930918

Related Diseases for Epilepsy, Juvenile Absence, Susceptibility to, 1

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Diseases in the Juvenile Absence Epilepsy family:

Early Onset Absence Epilepsy epilepsy, juvenile absence, susceptibility to, 1
Epilepsy, Juvenile Absence, Susceptibility to, 2

Diseases related to Epilepsy, Juvenile Absence, Susceptibility to, 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1juvenile absence epilepsy10.8
2succinic semialdehyde dehydrogenase deficiency10.1
3idiopathic generalized epilepsy10.1
4epilepsy, generalized, with febrile seizures plus, type 510.1
5epilepsy, juvenile myoclonic 810.1

Graphical network of diseases related to Epilepsy, Juvenile Absence, Susceptibility to, 1:



Diseases related to epilepsy, juvenile absence, susceptibility to, 1

Symptoms for Epilepsy, Juvenile Absence, Susceptibility to, 1

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Symptoms by clinical synopsis from OMIM:

607631

Clinical features from OMIM:

607631

HPO human phenotypes related to Epilepsy, Juvenile Absence, Susceptibility to, 1:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 absence seizures HP:0002121
3 generalized myoclonic seizures HP:0002123
4 generalized tonic-clonic seizures on awakening HP:0007193
5 eeg with spike-wave complexes (>3.5 hz) HP:0010849

Drugs & Therapeutics for Epilepsy, Juvenile Absence, Susceptibility to, 1

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Drug clinical trials:

Search ClinicalTrials for Epilepsy, Juvenile Absence, Susceptibility to, 1

Search NIH Clinical Center for Epilepsy, Juvenile Absence, Susceptibility to, 1

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Epilepsy, Juvenile Absence, Susceptibility to, 1

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Genetic tests related to Epilepsy, Juvenile Absence, Susceptibility to, 1:

id Genetic test Affiliating Genes
1 Epilepsy, Juvenile Absence, Susceptibility to, 120 EFHC1

Anatomical Context for Epilepsy, Juvenile Absence, Susceptibility to, 1

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Animal Models for Epilepsy, Juvenile Absence, Susceptibility to, 1 or affiliated genes

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Publications for Epilepsy, Juvenile Absence, Susceptibility to, 1

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Variations for Epilepsy, Juvenile Absence, Susceptibility to, 1

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Clinvar genetic disease variations for Epilepsy, Juvenile Absence, Susceptibility to, 1:

6
id Gene Name Type Significance SNP ID Assembly Location
1EFHC1NM_018100.3(EFHC1): c.520A> G (p.Ile174Val)single nucleotide variantrisk factorrs137852779GRCh37Chr 6, 52303336: 52303336
2EFHC1NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr)single nucleotide variantrisk factorrs137852780GRCh37Chr 6, 52318945: 52318945

Expression for genes affiliated with Epilepsy, Juvenile Absence, Susceptibility to, 1

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Expression patterns in normal tissues for genes affiliated with Epilepsy, Juvenile Absence, Susceptibility to, 1

Search GEO for disease gene expression data for Epilepsy, Juvenile Absence, Susceptibility to, 1.

Pathways for genes affiliated with Epilepsy, Juvenile Absence, Susceptibility to, 1

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Compounds for genes affiliated with Epilepsy, Juvenile Absence, Susceptibility to, 1

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GO Terms for genes affiliated with Epilepsy, Juvenile Absence, Susceptibility to, 1

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Products for genes affiliated with Epilepsy, Juvenile Absence, Susceptibility to, 1

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  • Antibodies
  • Proteins
  • Lysates

Sources for Epilepsy, Juvenile Absence, Susceptibility to, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet