EE
MCID: ENC055
MIFTS: 48

Encephalopathy, Ethylmalonic (EE)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Encephalopathy, Ethylmalonic

MalaCards integrated aliases for Encephalopathy, Ethylmalonic:

Name: Encephalopathy, Ethylmalonic 58 54 56
Ethylmalonic Encephalopathy 58 12 25 54 26 60 76 38 30 13 6 45 15 41 74
Encephalopathy, Petechiae, and Ethylmalonic Aciduria 54 26
Epema Syndrome 54 26
Ee 58 76
Syndrome of Encephalopathy, Petechiae, and Ethylmalonic Aciduria 54
Ethe1 Deficiency 25
Eme 54

Characteristics:

Orphanet epidemiological data:

60
ethylmalonic encephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in first months of life
patients are often of mediterranean origin
death usually occurs in first decade of life


HPO:

33
encephalopathy, ethylmalonic:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Encephalopathy, Ethylmalonic

NIH Rare Diseases : 54 Ethylmalonic encephalopathy is an inherited disorder that is usually evident at birth and affects several body systems, particularly the nervous system. Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels is also affected. Children with this disorder may experience rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature. Ethylmalonic encephalopathy is inherited in an autosomal recessive pattern and caused by mutations in the ETHE1 gene.

MalaCards based summary : Encephalopathy, Ethylmalonic, also known as ethylmalonic encephalopathy, is related to eosinophilia-myalgia syndrome and erythema multiforme, and has symptoms including seizures, ataxia and abnormality of extrapyramidal motor function. An important gene associated with Encephalopathy, Ethylmalonic is ETHE1 (ETHE1 Persulfide Dioxygenase), and among its related pathways/superpathways are Metabolism and Sulfur amino acid metabolism. Affiliated tissues include skin, brain and kidney, and related phenotypes are encephalopathy and ethylmalonic aciduria

Disease Ontology : 12 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.

Genetics Home Reference : 26 Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system. Neurological signs and symptoms include delayed development and the loss of previously acquired skills (developmental regression), weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels (the vascular system) is also affected. Children with this disorder often develop rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature of ethylmalonic encephalopathy.

OMIM : 58 Ethylmalonic encephalopathy is an autosomal recessive severe metabolic disorder of infancy affecting the brain, gastrointestinal tract, and peripheral vessels. The disorder is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea. Brain MRI shows necrotic lesions in deep gray matter structures. Death usually occurs in the first decade of life (summary by Drousiotou et al., 2011). (602473)

UniProtKB/Swiss-Prot : 76 Ethylmalonic encephalopathy: Autosomal recessive disorder characterized by neurodevelopmental delay and regression, recurrent petechiae, acrocyanosis, diarrhea, leading to death in the first decade of life. It is also associated with persistent lactic acidemia and ethylmalonic and methylsuccinic aciduria.

Wikipedia : 77 Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. Patients... more...

GeneReviews: NBK453432

Related Diseases for Encephalopathy, Ethylmalonic

Diseases related to Encephalopathy, Ethylmalonic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 201)
# Related Disease Score Top Affiliating Genes
1 eosinophilia-myalgia syndrome 12.3
2 erythema multiforme 12.0
3 epileptic encephalopathy, early infantile, 3 11.4
4 epileptic encephalopathy, early infantile, 4 11.4
5 erythromelalgia 11.3
6 esophagitis, eosinophilic, 1 11.3
7 pulmonary embolism 11.2
8 alpha-1-antitrypsin deficiency 11.1
9 pulmonary fibrosis, idiopathic 11.1
10 cystic fibrosis 11.1
11 macs syndrome 11.1
12 coccidioidomycosis 11.1
13 hemophilia 11.1
14 stachybotrys chartarum 11.1
15 cardiac arrest 10.5
16 encephalopathy 10.4
17 chronic kidney failure 10.2
18 thalassemia 10.2
19 kidney disease 10.2
20 blood group, gerbich system 10.2
21 esophagitis 10.2
22 bowenoid papulosis 10.2
23 medial medullary syndrome 10.1
24 myocardial infarction 10.1
25 neurofibromatosis, type ii 10.1
26 bornholm eye disease 10.1
27 ovarian disease 10.1
28 mood disorder 10.1
29 west syndrome 10.1
30 glomerulonephritis 10.1
31 crescentic glomerulonephritis 10.1
32 influenza 10.0
33 spondyloenchondrodysplasia 10.0
34 schizophrenia 9.9
35 alpha-thalassemia 9.9
36 human immunodeficiency virus type 1 9.9
37 deafness-infertility syndrome 9.9
38 hemoglobin h disease 9.9
39 sarcoma 9.9
40 severe pre-eclampsia 9.9
41 endometriosis 9.9
42 extraosseous ewing's sarcoma 9.9
43 hemoglobin e disease 9.9
44 ewing's family of tumors 9.9
45 isolated optic neuritis 9.9
46 prostate cancer 9.9
47 helicobacter pylori infection 9.9
48 asthma 9.9
49 prostate cancer, hereditary, 8 9.9
50 ventricular fibrillation, paroxysmal familial, 1 9.9

Graphical network of the top 20 diseases related to Encephalopathy, Ethylmalonic:



Diseases related to Encephalopathy, Ethylmalonic

Symptoms & Phenotypes for Encephalopathy, Ethylmalonic

Human phenotypes related to Encephalopathy, Ethylmalonic:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 encephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001298
2 ethylmalonic aciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003219
3 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
4 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
5 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
6 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
7 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
8 abnormal pyramidal sign 60 33 frequent (33%) Frequent (79-30%) HP:0007256
9 acrocyanosis 60 33 frequent (33%) Frequent (79-30%) HP:0001063
10 neurodevelopmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0012758
11 lactic acidosis 60 33 frequent (33%) Frequent (79-30%) HP:0003128
12 diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002014
13 petechiae 60 33 frequent (33%) Frequent (79-30%) HP:0000967
14 abnormality of extrapyramidal motor function 60 33 frequent (33%) Frequent (79-30%) HP:0002071
15 retinal vascular tortuosity 60 33 frequent (33%) Frequent (79-30%) HP:0012841
16 abnormal basal ganglia mri signal intensity 60 33 frequent (33%) Frequent (79-30%) HP:0012751
17 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
18 abnormal brainstem mri signal intensity 60 33 occasional (7.5%) Occasional (29-5%) HP:0012747
19 muscular hypotonia 33 HP:0001252
20 global developmental delay 33 HP:0001263
21 chronic diarrhea 33 HP:0002028
22 cytochrome c oxidase-negative muscle fibers 33 HP:0003688
23 focal t2 hyperintense basal ganglia lesion 33 HP:0007183
24 abnormal retinal vascular morphology 33 HP:0008046

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
developmental regression
developmental delay
hypotonia
more
Abdomen Gastrointestinal:
chronic diarrhea

Laboratory Abnormalities:
ethylmalonic aciduria
methylsuccinic aciduria
lactic acidemia
cytochrome c oxidase deficiency in skeletal muscle and brain
increased serum c4 and c5 acylcarnitine esters
more
Cardiovascular Vascular:
orthostatic acrocyanosis

Growth Other:
failure to thrive

Skin Nails Hair Skin:
petechiae
orthostatic acrocyanosis

Head And Neck Eyes:
retinal lesions with tortuous vessels

Clinical features from OMIM:

602473

UMLS symptoms related to Encephalopathy, Ethylmalonic:


seizures, ataxia, abnormality of extrapyramidal motor function, petechiae of skin

MGI Mouse Phenotypes related to Encephalopathy, Ethylmalonic:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 8.92 ACADS AIFM1 COX4I2 ETHE1

Drugs & Therapeutics for Encephalopathy, Ethylmalonic

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Ethylmalonic

Cochrane evidence based reviews: ethylmalonic encephalopathy

Genetic Tests for Encephalopathy, Ethylmalonic

Genetic tests related to Encephalopathy, Ethylmalonic:

# Genetic test Affiliating Genes
1 Ethylmalonic Encephalopathy 30 ETHE1

Anatomical Context for Encephalopathy, Ethylmalonic

MalaCards organs/tissues related to Encephalopathy, Ethylmalonic:

42
Skin, Brain, Kidney, Prostate, Skeletal Muscle, T Cells, Liver

Publications for Encephalopathy, Ethylmalonic

Articles related to Encephalopathy, Ethylmalonic:

(show all 44)
# Title Authors Year
1
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy. ( 30864297 )
2019
2
Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy. ( 30349987 )
2019
3
Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy. ( 29526615 )
2018
4
An unusual cause of cavitating leukoencephalopathy: ethylmalonic encephalopathy. ( 29464661 )
2018
5
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency. ( 29159724 )
2018
6
Bioenergetics dysfunction, mitochondrial permeability transition pore opening and lipid peroxidation induced by hydrogen sulfide as relevant pathomechanisms underlying the neurological dysfunction characteristic of ethylmalonic encephalopathy. ( 28624490 )
2017
7
Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy. ( 28698729 )
2017
8
Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine. ( 27830356 )
2017
9
Protein polysulfidation-dependent persulfide dioxygenase activity of ethylmalonic encephalopathy protein 1. ( 27742479 )
2016
10
Ethylmalonic Encephalopathy in an Indian Boy. ( 27771676 )
2016
11
Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease. ( 26917598 )
2016
12
Diffusion restriction in ethylmalonic encephalopathy - An imaging evidence of the pathophysiology of the disease. ( 26992475 )
2016
13
Severe early onset ethylmalonic encephalopathy with West syndrome. ( 26194623 )
2015
14
Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy. ( 25596185 )
2015
15
The mitochondrial sulfur dioxygenase ETHYLMALONIC ENCEPHALOPATHY PROTEIN1 is required for amino acid catabolism during carbohydrate starvation and embryo development in Arabidopsis. ( 24692429 )
2014
16
Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre. ( 25198162 )
2014
17
An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder. ( 22805253 )
2013
18
Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy. ( 23284046 )
2013
19
Ethylmalonic encephalopathy associated with crescentic glomerulonephritis. ( 22584649 )
2012
20
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy. ( 22903887 )
2012
21
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy. ( 22020834 )
2012
22
Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches. ( 20528888 )
2011
23
Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy. ( 20812865 )
2011
24
Proteomics reveals that redox regulation is disrupted in patients with ethylmalonic encephalopathy. ( 21410200 )
2011
25
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. ( 20657580 )
2010
26
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. ( 20978941 )
2010
27
Novel ETHE1 mutation in a carrier couple having prior offspring affected with ethylmalonic encephalopathy: Genetic analysis, clinical management and reproductive outcome. ( 21472225 )
2010
28
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. ( 19136963 )
2009
29
Clinical heterogeneity in ethylmalonic encephalopathy. ( 19289697 )
2009
30
Ethylmalonic encephalopathy. Another patient from Kuwait. ( 21048580 )
2009
31
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. ( 18593870 )
2008
32
Ethylmalonic encephalopathy: clinical and biochemical observations. ( 17712735 )
2007
33
ETHE1 mutations are specific to ethylmalonic encephalopathy. ( 16183799 )
2006
34
Ethylmalonic encephalopathy-report of two cases. ( 16376514 )
2006
35
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. ( 16828325 )
2006
36
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. ( 16906473 )
2006
37
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. ( 14732903 )
2004
38
The role of methionine in ethylmalonic encephalopathy with petechiae. ( 15096407 )
2004
39
Brain mitochondrial impairment in ethylmalonic encephalopathy. ( 15311356 )
2004
40
Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes. ( 12872841 )
2003
41
Ethylmalonic encephalopathy: further clinical and neuroradiological characterization. ( 12382164 )
2002
42
Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin. ( 11916321 )
2001
43
Central nervous system malformations in ethylmalonic encephalopathy. ( 9475600 )
1998
44
Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. ( 9667231 )
1998

Variations for Encephalopathy, Ethylmalonic

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Ethylmalonic:

76
# Symbol AA change Variation ID SNP ID
1 ETHE1 p.Tyr38Cys VAR_023395
2 ETHE1 p.Thr136Ala VAR_023396 rs128420051
3 ETHE1 p.Arg163Trp VAR_023397 rs28940289
4 ETHE1 p.Leu185Arg VAR_023398 rs387906987
5 ETHE1 p.Leu55Pro VAR_069507 rs182983506
6 ETHE1 p.Thr152Ile VAR_069508 rs131763308
7 ETHE1 p.Arg163Gln VAR_069509 rs745656120
8 ETHE1 p.Thr164Lys VAR_069510 rs126864044
9 ETHE1 p.Asp196Asn VAR_069511 rs763799125

ClinVar genetic disease variations for Encephalopathy, Ethylmalonic:

6 (show top 50) (show all 110)
# Gene Variation Type Significance SNP ID Assembly Location
1 ETHE1 NM_014297.4(ETHE1): c.487C> T (p.Arg163Trp) single nucleotide variant Pathogenic rs28940289 GRCh37 Chromosome 19, 44015607: 44015607
2 ETHE1 NM_014297.4(ETHE1): c.487C> T (p.Arg163Trp) single nucleotide variant Pathogenic rs28940289 GRCh38 Chromosome 19, 43511455: 43511455
3 ETHE1 NM_014297.3(ETHE1): c.3G> T single nucleotide variant Pathogenic rs119103249 GRCh37 Chromosome 19, 44031327: 44031327
4 ETHE1 NM_014297.3(ETHE1): c.3G> T single nucleotide variant Pathogenic rs119103249 GRCh38 Chromosome 19, 43527175: 43527175
5 ETHE1 ETHE1, 1-BP INS, 604G insertion Pathogenic
6 ETHE1 ETHE1, 1-BP INS, 221A insertion Pathogenic
7 ETHE1 ETHE1, 11-BP DEL, NT440 deletion Pathogenic
8 ETHE1 ETHE1, IVS4DS, G-T, +1 single nucleotide variant Pathogenic
9 ETHE1 ETHE1, EX4DEL deletion Pathogenic
10 ETHE1 NM_014297.4(ETHE1): c.554T> G (p.Leu185Arg) single nucleotide variant Pathogenic rs387906987 GRCh37 Chromosome 19, 44012968: 44012968
11 ETHE1 NM_014297.4(ETHE1): c.554T> G (p.Leu185Arg) single nucleotide variant Pathogenic rs387906987 GRCh38 Chromosome 19, 43508816: 43508816
12 ETHE1 NM_014297.4(ETHE1): c.227-9C> G single nucleotide variant Benign rs199921503 GRCh38 Chromosome 19, 43526358: 43526358
13 ETHE1 NM_014297.4(ETHE1): c.227-9C> G single nucleotide variant Benign rs199921503 GRCh37 Chromosome 19, 44030510: 44030510
14 ETHE1 NM_014297.4(ETHE1): c.-47C> T single nucleotide variant Conflicting interpretations of pathogenicity rs368890798 GRCh38 Chromosome 19, 43527224: 43527224
15 ETHE1 NM_014297.4(ETHE1): c.-47C> T single nucleotide variant Conflicting interpretations of pathogenicity rs368890798 GRCh37 Chromosome 19, 44031376: 44031376
16 ETHE1 NM_014297.4(ETHE1): c.-45G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144136377 GRCh38 Chromosome 19, 43527222: 43527222
17 ETHE1 NM_014297.4(ETHE1): c.-45G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144136377 GRCh37 Chromosome 19, 44031374: 44031374
18 ETHE1 NM_014297.4(ETHE1): c.61G> T (p.Ala21Ser) single nucleotide variant Benign/Likely benign rs116440799 GRCh38 Chromosome 19, 43527117: 43527117
19 ETHE1 NM_014297.4(ETHE1): c.61G> T (p.Ala21Ser) single nucleotide variant Benign/Likely benign rs116440799 GRCh37 Chromosome 19, 44031269: 44031269
20 ETHE1 NM_014297.4(ETHE1): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs745656120 GRCh38 Chromosome 19, 43511454: 43511454
21 ETHE1 NM_014297.4(ETHE1): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs745656120 GRCh37 Chromosome 19, 44015606: 44015606
22 ETHE1 NM_014297.3(ETHE1): c.278C> T (p.Ser93Phe) single nucleotide variant Uncertain significance rs199827754 GRCh38 Chromosome 19, 43526298: 43526298
23 ETHE1 NM_014297.3(ETHE1): c.278C> T (p.Ser93Phe) single nucleotide variant Uncertain significance rs199827754 GRCh37 Chromosome 19, 44030450: 44030450
24 ETHE1 NM_014297.5(ETHE1): c.184G> A (p.Ala62Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138958351 GRCh37 Chromosome 19, 44030709: 44030709
25 ETHE1 NM_014297.5(ETHE1): c.184G> A (p.Ala62Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138958351 GRCh38 Chromosome 19, 43526557: 43526557
26 ETHE1 NM_014297.4(ETHE1): c.6G> A (p.Ala2=) single nucleotide variant Benign rs3810381 GRCh37 Chromosome 19, 44031324: 44031324
27 ETHE1 NM_014297.4(ETHE1): c.6G> A (p.Ala2=) single nucleotide variant Benign rs3810381 GRCh38 Chromosome 19, 43527172: 43527172
28 ETHE1 NM_014297.4(ETHE1): c.197A> G (p.Lys66Arg) single nucleotide variant Uncertain significance rs777252863 GRCh38 Chromosome 19, 43526544: 43526544
29 ETHE1 NM_014297.4(ETHE1): c.197A> G (p.Lys66Arg) single nucleotide variant Uncertain significance rs777252863 GRCh37 Chromosome 19, 44030696: 44030696
30 ETHE1 NM_014297.4(ETHE1): c.317G> C (p.Ser106Thr) single nucleotide variant Uncertain significance rs886054480 GRCh38 Chromosome 19, 43526259: 43526259
31 ETHE1 NM_014297.4(ETHE1): c.317G> C (p.Ser106Thr) single nucleotide variant Uncertain significance rs886054480 GRCh37 Chromosome 19, 44030411: 44030411
32 ETHE1 NM_014297.4(ETHE1): c.9G> A (p.Glu3=) single nucleotide variant Uncertain significance rs773937760 GRCh38 Chromosome 19, 43527169: 43527169
33 ETHE1 NM_014297.4(ETHE1): c.9G> A (p.Glu3=) single nucleotide variant Uncertain significance rs773937760 GRCh37 Chromosome 19, 44031321: 44031321
34 ETHE1 NM_014297.4(ETHE1): c.-52G> C single nucleotide variant Uncertain significance rs886054481 GRCh38 Chromosome 19, 43527229: 43527229
35 ETHE1 NM_014297.4(ETHE1): c.-52G> C single nucleotide variant Uncertain significance rs886054481 GRCh37 Chromosome 19, 44031381: 44031381
36 ETHE1 NM_014297.4(ETHE1): c.*31A> G single nucleotide variant Uncertain significance rs778362220 GRCh38 Chromosome 19, 43506819: 43506819
37 ETHE1 NM_014297.4(ETHE1): c.*31A> G single nucleotide variant Uncertain significance rs778362220 GRCh37 Chromosome 19, 44010971: 44010971
38 ETHE1 NM_014297.4(ETHE1): c.*55G> T single nucleotide variant Uncertain significance rs201842186 GRCh38 Chromosome 19, 43506795: 43506795
39 ETHE1 NM_014297.4(ETHE1): c.*55G> T single nucleotide variant Uncertain significance rs201842186 GRCh37 Chromosome 19, 44010947: 44010947
40 ETHE1 NM_014297.4(ETHE1): c.376-5G> C single nucleotide variant Uncertain significance rs886054479 GRCh38 Chromosome 19, 43511571: 43511571
41 ETHE1 NM_014297.4(ETHE1): c.376-5G> C single nucleotide variant Uncertain significance rs886054479 GRCh37 Chromosome 19, 44015723: 44015723
42 ETHE1 NM_014297.4(ETHE1): c.-53C> T single nucleotide variant Uncertain significance rs886054482 GRCh38 Chromosome 19, 43527230: 43527230
43 ETHE1 NM_014297.4(ETHE1): c.-53C> T single nucleotide variant Uncertain significance rs886054482 GRCh37 Chromosome 19, 44031382: 44031382
44 ETHE1 NM_014297.4(ETHE1): c.-58G> T single nucleotide variant Uncertain significance rs886054483 GRCh38 Chromosome 19, 43527235: 43527235
45 ETHE1 NM_014297.4(ETHE1): c.-58G> T single nucleotide variant Uncertain significance rs886054483 GRCh37 Chromosome 19, 44031387: 44031387
46 ETHE1 NM_014297.4(ETHE1): c.-62C> G single nucleotide variant Likely benign rs114033490 GRCh38 Chromosome 19, 43527239: 43527239
47 ETHE1 NM_014297.4(ETHE1): c.371G> T (p.Arg124Leu) single nucleotide variant Uncertain significance rs770508697 GRCh38 Chromosome 19, 43526205: 43526205
48 ETHE1 NM_014297.4(ETHE1): c.371G> T (p.Arg124Leu) single nucleotide variant Uncertain significance rs770508697 GRCh37 Chromosome 19, 44030357: 44030357
49 ETHE1 NM_014297.4(ETHE1): c.-41G> A single nucleotide variant Benign rs3810380 GRCh38 Chromosome 19, 43527218: 43527218
50 ETHE1 NM_014297.4(ETHE1): c.-41G> A single nucleotide variant Benign rs3810380 GRCh37 Chromosome 19, 44031370: 44031370

Expression for Encephalopathy, Ethylmalonic

Search GEO for disease gene expression data for Encephalopathy, Ethylmalonic.

Pathways for Encephalopathy, Ethylmalonic

GO Terms for Encephalopathy, Ethylmalonic

Cellular components related to Encephalopathy, Ethylmalonic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.26 ACADS ETHE1 SUOX TST
2 mitochondrial intermembrane space GO:0005758 9.16 AIFM1 SUOX
3 mitochondrion GO:0005739 9.1 ACADS AIFM1 COX4I2 ETHE1 SUOX TST

Biological processes related to Encephalopathy, Ethylmalonic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.02 ACADS AIFM1 COX4I2 ETHE1 SUOX
2 sulfide oxidation, using sulfide:quinone oxidoreductase GO:0070221 8.96 ETHE1 SUOX

Molecular functions related to Encephalopathy, Ethylmalonic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 8.96 ACADS AIFM1
2 oxidoreductase activity GO:0016491 8.92 ACADS AIFM1 ETHE1 SUOX

Sources for Encephalopathy, Ethylmalonic

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