Details of Disease | DrugMAP

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.