JAE
MCID: EPL054
MIFTS: 19

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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47OMIM, 33MalaCards
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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:47 607631

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

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Sources:
20GeneTests, 47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS 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):

49
juvenile absence epilepsy:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

epilepsy, juvenile absence, susceptibility to, 1 20 62
epilepsy, juvenile absence 1 47
juvenile absence epilepsy 49
jae 49


External Ids:

OMIM47 607631
MESH via Orphanet36 C535495
ICD10 via Orphanet26 G40.3
SNOMED-CT via Orphanet59 230413002
UMLS via Orphanet63 C2930918

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

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17GeneCards, 18GeneDecks
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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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47OMIM
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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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42NIH Clinical Center, 6ClinicalTrials
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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

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

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20GeneTests
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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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Expression for genes affiliated with Epilepsy, Juvenile Absence, Susceptibility to, 1

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Sources:
2BioGPS, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet