Details of Disease

General Information of Disease (ID: DIST7CLF)

Disease Name Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
Synonyms ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS; PEERB
Disease Hierarchy
DISP9UN3: Mendelian encephalopathy
DIST7CLF: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
Disease Identifiers
MONDO ID
MONDO_0032681
UMLS CUI
C5193033
OMIM ID
618331
MedGen ID
1682670

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
TRAPPC2L OT1LN60D Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. J Med Genet. 2018 Nov;55(11):753-764. doi: 10.1136/jmedgenet-2018-105441. Epub 2018 Aug 17.