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Ontology Browser

Term:
ethylmalonic encephalopathy (DOID:0060640)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (0) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
Ataxia and Polyneuropathy, Adult-Onset  
Ataxia Neuropathy Spectrum  
Bjornstad syndrome  
carbamoyl phosphate synthetase I deficiency disease  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
Childhood Myocerebrohepatopathy Spectrum 
coenzyme Q10 deficiency disease +   
combined oxidative phosphorylation deficiency +   
Cowden-Like Syndrome  
cytochrome-c oxidase deficiency disease +   
deafness-dystonia-optic neuronopathy syndrome  
Deoxyguanosine Kinase Deficiency  
early infantile epileptic encephalopathy 39  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
ethylmalonic encephalopathy  
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.
Friedreich ataxia +   
GRACILE syndrome  
Hypermetabolism due to Defect in Mitochondria 
hypomyelinating leukodystrophy 4  
hypotonia-cystinuria syndrome  
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
Leigh disease +   
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Mitochondrial Cardiomyopathy  
mitochondrial complex I deficiency +   
mitochondrial complex II deficiency  
mitochondrial complex III deficiency +   
mitochondrial complex V (ATP synthase) deficiency +   
Mitochondrial Cytopathy +   
mitochondrial DNA depletion syndrome +   
Mitochondrial Phosphate Carrier Deficiency  
mitochondrial pyruvate carrier deficiency  
multiple acyl-CoA dehydrogenase deficiency +   
multiple mitochondrial dysfunctions syndrome +   
Myopathy with Giant Abnormal Mitochondria 
Myopathy, Cataract, Hypogonadism Syndrome 
Noninsulin-Dependent Diabetes Mellitus with Deafness  
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
optic atrophy 1  
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
Progressive External Ophthalmoplegia with Hypogonadism 
Proximal Myopathy with Focal Depletion of Mitochondria 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Sarcosinemia  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Spinocerebellar Ataxia with Epilepsy  
Succinate-Coa Ligase Deficiency +   
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
Wolfram syndrome 2  

Synonyms
Exact Synonyms: EE ;   Encephalopathy, Petechiae, and Ethylmalonic Aciduria ;   Epema Syndrome ;   Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
Primary IDs: MESH:C535737 ;   RDO:0001024
Alternate IDs: OMIM:602473
Xrefs: GARD:2198 ;   ORDO:51188
Definition Sources: https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy, https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy, https://www.ncbi.nlm.nih.gov/pubmed/20528888

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.