ethylmalonic encephalopathy

Summary
Definition
A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13.
Super Class
mitochondrial metabolism disease
External Links
Disease Ontology
DOID:0060640
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
224 ALDH3A2 aldehyde dehydrogenase 3 family member A2
308 ANXA5 annexin A5
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P08758 Annexin A5
P51648 Aldehyde dehydrogenase family 3 member A2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024