Details of Disease

General Information of Disease (ID: DISSI159)

Disease Name Developmental and epileptic encephalopathy, 48
Synonyms
AP3B2 early infantile epileptic encephalopathy; developmental and epileptic encephalopathy 48; epileptic encephalopathy, early infantile, type 48; early infantile epileptic encephalopathy caused by mutation in AP3B2; epileptic encephalopathy, early infantile, 48; EIEE48; epileptic encephalopathy, early infantile, 48; DEE48; EIEE48
Definition Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISSI159: Developmental and epileptic encephalopathy, 48
Disease Identifiers
MONDO ID
MONDO_0015000
UMLS CUI
C4310637
OMIM ID
617276
MedGen ID
934604

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
AP3B2 OT7BFBLP Strong Autosomal recessive [1]
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References

1 Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19.