Details of Disease | DrugMAP

General Information of Disease (ID: DISSRKHE)

Disease Name	Developmental and epileptic encephalopathy, 73
Synonyms	developmental and epileptic encephalopathy 73; rnf13-related severe early-onset epileptic encephalopathy; epileptic encephalopathy, early infantile, 73; DEE73
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DIS80GDF: Monogenic epilepsy DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISZOCA3: Epileptic encephalopathy DISSRKHE: Developmental and epileptic encephalopathy, 73
Disease Identifiers	MONDO ID MONDO_0034106 UMLS CUI C5193065 OMIM ID 618379 MedGen ID 1681654 Orphanet ID 544503 SNOMED CT ID 1222659003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RNF13	OT7HNYF4	Strong	Autosomal dominant	[1]
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References

1	Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. Am J Hum Genet. 2019 Jan 3;104(1):179-185. doi: 10.1016/j.ajhg.2018.11.018. Epub 2018 Dec 27.