Details of Disease

General Information of Disease (ID: DISJAE3C)

Disease Name Encephalopathy, progressive, with amyotrophy and optic atrophy
Synonyms encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO; PEAMO; encephalopathy, progressive, with amyotrophy and optic atrophy
Disease Hierarchy
DISP9UN3: Mendelian encephalopathy
DISJAE3C: Encephalopathy, progressive, with amyotrophy and optic atrophy
Disease Identifiers
MONDO ID
MONDO_0014968
UMLS CUI
C4310667
OMIM ID
617207
MedGen ID
934634

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
TBCE OTGBSTKS Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.