Details of Disease | DrugMAP

General Information of Disease (ID: DISD2FF5)

Disease Name	Epilepsy, childhood absence, susceptibility to, 6
Synonyms	childhood absence epilepsy caused by mutation in CACNA1H; epilepsy, idiopathic generalized, susceptibility to, 6; CACNA1H childhood absence epilepsy; ECA6; epilepsy, childhood absence, susceptibility to, type 6; susceptibility to childhood absence epilepsy 6; epilepsy, childhood absence, susceptibility to, 6
Definition	An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene.
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DISD2FF5: Epilepsy, childhood absence, susceptibility to, 6
Disease Identifiers	MONDO ID MONDO_0012763 UMLS CUI C2749872 OMIM ID 611942 MedGen ID 440896

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA1H	TTZPWGN	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNA1H	DTUFAZ5	Limited	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CACNA1H	OTM705TH	Limited	Autosomal dominant	[2]
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References

1	Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.Cell. 2018 Sep 20;175(1):239-253.e17. doi: 10.1016/j.cell.2018.08.019. Epub 2018 Sep 6.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.