Details of Disease

General Information of Disease (ID: DISFBBYJ)

Disease Name Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Synonyms encephalopathy, progressive, early-onset, with brain atrophy and spasticity; PEBAS
Disease Hierarchy
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DISP9UN3: Mendelian encephalopathy
DISFBBYJ: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Disease Identifiers
MONDO ID
MONDO_0044696
UMLS CUI
C5567229
OMIM ID
617669
MedGen ID
1798652
Orphanet ID
500144
SNOMED CT ID
1169356004

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
TRAPPC12 OT6NMCK5 Strong Autosomal recessive [1]
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References

1 Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. Am J Hum Genet. 2017 Aug 3;101(2):291-299. doi: 10.1016/j.ajhg.2017.07.006.