JAE
MCID: EPL054
MIFTS: 19

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

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Epilepsy, Juvenile Absence, Susceptibility to, 1

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48OMIM, 34MalaCards
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MalaCards: Epilepsy, Juvenile Absence, Susceptibility to, 1, also known as epilepsy, juvenile absence 1, is related to juvenile absence epilepsy and succinic semialdehyde dehydrogenase deficiency. An important gene associated with Epilepsy, Juvenile Absence, Susceptibility to, 1 is EFHC1 (EF-hand domain (C-terminal) containing 1).

Description from OMIM:48 607631

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

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Sources:
21GeneTests, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
juvenile absence epilepsy:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

epilepsy, juvenile absence, susceptibility to, 1 21 63
epilepsy, juvenile absence 1 48
juvenile absence epilepsy 50
jae 50


External Ids:

OMIM48 607631
MESH via Orphanet37 C535495
ICD10 via Orphanet27 G40.3
SNOMED-CT via Orphanet60 230413002
UMLS via Orphanet64 C2930918

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

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18GeneCards, 19GeneDecks
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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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48OMIM
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Symptoms by clinical synopsis from OMIM:

607631

Clinical features from OMIM:

607631

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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

Drug clinical trials:

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

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

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

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

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21GeneTests
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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, 121 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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Expression for genes affiliated with Epilepsy, Juvenile Absence, Susceptibility to, 1

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Epilepsy, Juvenile Absence, Susceptibility to, 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet