Details of Disease | DrugMAP

General Information of Disease (ID: DISOODV4)

Disease Name	Developmental and epileptic encephalopathy, 87
Synonyms	DEE87; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87; developmental and epileptic encephalopathy 87; EIEE87; epileptic encephalopathy, early infantile, 87
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISOODV4: Developmental and epileptic encephalopathy, 87
Disease Identifiers	MONDO ID MONDO_0030059 UMLS CUI C5394501 OMIM ID 618916 MedGen ID 1719688

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
CDK19	TTNABU9	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDK19	OTVMM0CP	Strong	Autosomal dominant	[1]
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References

1	CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation. Hum Genet. 2010 Sep;128(3):281-91. doi: 10.1007/s00439-010-0848-x. Epub 2010 Jun 22.