Details of Disease

General Information of Disease (ID: DISY3ACD)

Disease Name SYNGAP1-related developmental and epileptic encephalopathy
Definition
A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISTEZKR: Infantile epilepsy syndrome
DISY3ACD: SYNGAP1-related developmental and epileptic encephalopathy
Disease Identifiers
MONDO ID
MONDO_0034099
UMLS CUI
C5680163
MedGen ID
1810512
Orphanet ID
544254
SNOMED CT ID
1222656005

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
SYNGAP1 OT41HVYQ Supportive Autosomal dominant [1]
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References

1 SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12.