Details of Disease

General Information of Disease (ID: DISH7SB9)

Disease Name Ethylmalonic encephalopathy
Synonyms encephalopathy, petechiae, and ethylmalonic aciduria; EE; eme; EPEMA syndrome; syndrome of encephalopathy, petechiae, and ethylmalonic aciduria; encephalopathy, ethylmalonic
Definition
Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.
Disease Hierarchy
DISKAHA3: Mitochondrial disease
DISP9UN3: Mendelian encephalopathy
DISH7SB9: Ethylmalonic encephalopathy
Disease Identifiers
MONDO ID
MONDO_0011229
MESH ID
C535737
UMLS CUI
C1865349
OMIM ID
602473
MedGen ID
355966
Orphanet ID
51188
SNOMED CT ID
723307008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ABCB11 TTUXCAF Limited Altered Expression [1]
ALDH3A2 TTB6UM0 moderate Genetic Variation [2]
DNM1 TTE3JW9 moderate Genetic Variation [3]
TNK2 TTIET93 moderate Biomarker [4]
------------------------------------------------------------------------------------
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HBS1L OTA3U1N6 Limited Genetic Variation [5]
OXR1 OTPIDMT3 Limited Biomarker [6]
TRIM8 OTS6JFR0 Strong Biomarker [7]
ETHE1 OTP9A2BQ Definitive Autosomal recessive [8]
------------------------------------------------------------------------------------

References

1 Effect of YHHJ on the expression of the hepatocellular bile acid transporters multidrug resistance-associated protein 2 and bile salt export pump in ethinylestradiol-induced cholestasis.Exp Ther Med. 2018 Apr;15(4):3699-3704. doi: 10.3892/etm.2018.5891. Epub 2018 Feb 26.
2 Proteomics reveals that redox regulation is disrupted in patients with ethylmalonic encephalopathy.J Proteome Res. 2011 May 6;10(5):2389-96. doi: 10.1021/pr101218d. Epub 2011 Mar 28.
3 Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy.PLoS Genet. 2015 Jun 30;11(6):e1005347. doi: 10.1371/journal.pgen.1005347. eCollection 2015 Jun.
4 Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy. Ann Neurol. 2013 Sep;74(3):496-501. doi: 10.1002/ana.23934. Epub 2013 Sep 4.
5 Variability of hemoglobin F expression in hemoglobin EE disease: hematological and molecular analysis.Blood Cells Mol Dis. 2014 Jun-Aug;53(1-2):11-5. doi: 10.1016/j.bcmd.2014.02.005. Epub 2014 Feb 26.
6 Environmental Enrichment During Adulthood Reduces Sucrose Binge-Like Intake in a High Drinking in the Dark Phenotype (HD) in C57BL/6J Mice.Front Behav Neurosci. 2019 Feb 15;13:27. doi: 10.3389/fnbeh.2019.00027. eCollection 2019.
7 De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.
8 Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet. 2004 Feb;74(2):239-52. doi: 10.1086/381653. Epub 2004 Jan 19.