Details of Disease

General Information of Disease (ID: DISLQGMB)

Disease Name Pontocerebellar hypoplasia, type 1E
Synonyms PCH1E; pontocerebellar hypoplasia, type 1E
Disease Hierarchy
DISRICMU: Pontocerebellar hypoplasia
DISLQGMB: Pontocerebellar hypoplasia, type 1E
Disease Identifiers
MONDO ID
MONDO_0030260
UMLS CUI
C5543328
OMIM ID
619303
MedGen ID
1788285

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
SLC25A46 OTFEV9SV Strong Autosomal recessive [1]
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References

1 Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212.