EE
MCID: ENC055
MIFTS: 49

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 57 53 55
Ethylmalonic Encephalopathy 57 12 24 53 25 59 74 37 29 13 6 44 15 40 72
Encephalopathy, Petechiae, and Ethylmalonic Aciduria 53 25
Epema Syndrome 53 25
Ee 57 74
Syndrome of Encephalopathy, Petechiae, and Ethylmalonic Aciduria 53
Ethe1 Deficiency 24
Eme 53

Characteristics:

Orphanet epidemiological data:

59
ethylmalonic encephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

57
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:

32
encephalopathy, ethylmalonic:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060640
OMIM 57 602473
KEGG 37 H01249
MeSH 44 C535737
MESH via Orphanet 45 C535737
ICD10 via Orphanet 34 G31.8
UMLS via Orphanet 73 C1865349
Orphanet 59 ORPHA51188
MedGen 42 C1865349
UMLS 72 C1865349

Summaries for Encephalopathy, Ethylmalonic

Genetics Home Reference : 25 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. The signs and symptoms of ethylmalonic encephalopathy are apparent at birth or begin in the first few months of life. Problems with the nervous system typically worsen over time, and most affected individuals survive only into early childhood.

MalaCards based summary : Encephalopathy, Ethylmalonic, also known as ethylmalonic encephalopathy, is related to erythema multiforme and eosinophilia-myalgia syndrome, 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 skeletal muscle, 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.

NIH Rare Diseases : 53 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.

OMIM : 57 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)

KEGG : 37
Ethylmalonic encephalopathy (EE) is an autosomal recessive metabolic disease caused by mutations in the ETHE1 gene. EE is is characterized by early onset of neurological degeneration, chronic diarrhea, recurrent petechiae, orthostatic acrocyanosis, and death in the first years of life.

UniProtKB/Swiss-Prot : 74 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 : 75 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 440)
# Related Disease Score Top Affiliating Genes
1 erythema multiforme 12.4
2 eosinophilia-myalgia syndrome 12.2
3 epileptic encephalopathy, early infantile, 3 11.5
4 erythromelalgia 11.4
5 esophagitis, eosinophilic, 1 11.4
6 pulmonary embolism 11.3
7 epileptic encephalopathy, early infantile, 4 11.2
8 alpha-1-antitrypsin deficiency 11.2
9 pulmonary fibrosis, idiopathic 11.2
10 cystic fibrosis 11.2
11 coccidioidomycosis 11.2
12 hemophilia 11.2
13 mycobacterium abscessus 11.2
14 stachybotrys chartarum 11.2
15 cardiac arrest 10.6
16 diarrhea 10.6
17 hypotonia 10.6
18 encephalopathy 10.4
19 autosomal recessive disease 10.4
20 thalassemia 10.4
21 ventricular fibrillation, paroxysmal familial, 1 10.3
22 neurofibromatosis, type ii 10.3
23 kidney disease 10.3
24 chronic kidney disease 10.3
25 helix syndrome 10.3
26 purpura 10.2
27 dystonia 10.2
28 major affective disorder 8 10.2
29 major affective disorder 9 10.2
30 bipolar disorder 10.2
31 hernia, hiatus 10.2
32 esophagitis 10.2
33 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
34 bipolar i disorder 10.1
35 hypereosinophilic syndrome 10.1
36 immunodeficiency, common variable, 10 10.1
37 substance abuse 10.1
38 syncope 10.1
39 rapidly involuting congenital hemangioma 10.1
40 gastroesophageal reflux 10.1
41 neural tube defects 10.1
42 beta-thalassemia 10.1
43 hydrops, lactic acidosis, and sideroblastic anemia 10.1
44 ovarian disease 10.1
45 polycystic ovary syndrome 10.1
46 ischemia 10.1
47 mood disorder 10.1
48 hemoglobin e disease 10.1
49 acyl-coa dehydrogenase, short-chain, deficiency of 10.1
50 mitochondrial complex iv deficiency 10.1

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:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001298
2 ethylmalonic aciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003219
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
6 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
7 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
8 abnormal pyramidal sign 59 32 frequent (33%) Frequent (79-30%) HP:0007256
9 acrocyanosis 59 32 frequent (33%) Frequent (79-30%) HP:0001063
10 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
11 neurodevelopmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0012758
12 lactic acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0003128
13 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
14 petechiae 59 32 frequent (33%) Frequent (79-30%) HP:0000967
15 abnormality of extrapyramidal motor function 59 32 frequent (33%) Frequent (79-30%) HP:0002071
16 retinal vascular tortuosity 59 32 frequent (33%) Frequent (79-30%) HP:0012841
17 abnormal basal ganglia mri signal intensity 59 32 frequent (33%) Frequent (79-30%) HP:0012751
18 abnormal brainstem mri signal intensity 59 32 occasional (7.5%) Occasional (29-5%) HP:0012747
19 muscular hypotonia 32 HP:0001252
20 global developmental delay 32 HP:0001263
21 chronic diarrhea 32 HP:0002028
22 cytochrome c oxidase-negative muscle fibers 32 HP:0003688
23 focal t2 hyperintense basal ganglia lesion 32 HP:0007183
24 abnormal retinal vascular morphology 32 HP:0008046

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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 29 ETHE1

Anatomical Context for Encephalopathy, Ethylmalonic

MalaCards organs/tissues related to Encephalopathy, Ethylmalonic:

41
Skin, Brain, Skeletal Muscle, Liver, Colon, Cortex

Publications for Encephalopathy, Ethylmalonic

Articles related to Encephalopathy, Ethylmalonic:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. 9 38 4 8 71
18593870 2008
2
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. 9 38 4 8 71
14732903 2004
3
Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches. 38 4 8 71
20528888 2011
4
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. 38 4 8
20657580 2010
5
Ethylmalonic encephalopathy: further clinical and neuroradiological characterization. 38 4 8
12382164 2002
6
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. 4 8
8283379 1994
7
Ethylmalonic Encephalopathy 38 71
28933811 2017
8
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. 38 8
19136963 2009
9
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. 9 38 4
16906473 2006
10
ETHE1 mutations are specific to ethylmalonic encephalopathy. 9 38 4
16183799 2006
11
Central nervous system malformations in ethylmalonic encephalopathy. 38 8
9475600 1998
12
Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine. 38 4
27830356 2017
13
Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease. 38 4
26917598 2016
14
Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches. 38 4
26194912 2015
15
Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy. 38 4
23284046 2013
16
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy. 38 4
22903887 2012
17
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy. 38 4
22020834 2012
18
Clinical heterogeneity in ethylmalonic encephalopathy. 38 4
19289697 2009
19
Ethylmalonic encephalopathy: clinical and biochemical observations. 38 4
17712735 2007
20
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. 38 4
16828325 2006
21
Ethylmalonic encephalopathy-report of two cases. 38 4
16376514 2006
22
Brain mitochondrial impairment in ethylmalonic encephalopathy. 38 4
15311356 2004
23
Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. 8
9367300 1997
24
Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. 8
7726376 1994
25
New clinical phenotype of branched-chain acyl-CoA oxidation defect. 8
1683940 1991
26
Mitochondrial diseases. 4
27775730 2016
27
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. 4
21325949 2011
28
Chronic early postnatal administration of ethylmalonic acid to rats causes behavioral deficit. 9 38
18950661 2009
29
Spectroscopic studies on Arabidopsis ETHE1, a glyoxalase II-like protein. 9 38
18656261 2008
30
Structure of an ETHE1-like protein from Arabidopsis thaliana. 9 38
16929096 2006
31
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy. 38
30864297 2019
32
ETHE1 overexpression promotes SIRT1 and PGC1α mediated aerobic glycolysis, oxidative phosphorylation, mitochondrial biogenesis and colorectal cancer. 38
31258845 2019
33
Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy. 38
30349987 2019
34
Deficiency of the mitochondrial sulfide regulator ETHE1 disturbs cell growth, glutathione level and causes proteome alterations outside mitochondria. 38
30391543 2019
35
Structure-Based Design of Versatile Biosensors for Small Molecules Based on the PAS Domain of a Thermophilic Histidine Kinase. 38
30525476 2018
36
[Clinical and genetic analysis of a case with atypical ethyl malonate encephalopathy]. 38
30298498 2018
37
Mechanism-based inhibition of human persulfide dioxygenase by γ-glutamyl-homocysteinyl-glycine. 38
29980601 2018
38
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency. 38
29159724 2018
39
An unusual cause of cavitating leukoencephalopathy: ethylmalonic encephalopathy. 38
29464661 2018
40
Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy. 38
29526615 2018
41
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. 38
28624490 2017
42
Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy. 38
28698729 2017
43
Differential protein expression in metallothionein protection from depleted uranium-induced nephrotoxicity. 38
27966587 2016
44
Protein polysulfidation-dependent persulfide dioxygenase activity of ethylmalonic encephalopathy protein 1. 38
27742479 2016
45
Ethylmalonic Encephalopathy in an Indian Boy. 38
27771676 2016
46
Diffusion restriction in ethylmalonic encephalopathy - An imaging evidence of the pathophysiology of the disease. 38
26992475 2016
47
Hydrogen Sulfide Oxidation by Myoglobin. 38
27310035 2016
48
Untargeted Metabolomics Analysis Reveals a Link between ETHE1-Mediated Disruptive Redox State and Altered Metabolic Regulation. 38
27074420 2016
49
Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency. 38
26867521 2016
50
Severe early onset ethylmalonic encephalopathy with West syndrome. 38
26194623 2015

Variations for Encephalopathy, Ethylmalonic

ClinVar genetic disease variations for Encephalopathy, Ethylmalonic:

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ETHE1 NM_014297.5(ETHE1): c.406A> G (p.Thr136Ala) single nucleotide variant Pathogenic rs1284200516 19:44015688-44015688 19:43511536-43511536
2 ETHE1 NM_014297.4(ETHE1): c.-67-16_-67-12delCGCCC deletion Pathogenic rs1211555765 19:44031408-44031412 19:43527256-43527260
3 ETHE1 NM_014297.5(ETHE1): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs1555765701 19:44031296-44031296 19:43527144-43527144
4 ETHE1 NM_014297.5(ETHE1): c.66del (p.Ile23fs) deletion Pathogenic rs1555765689 19:44031264-44031264 19:43527112-43527112
5 ETHE1 NM_014297.5(ETHE1): c.113A> G (p.Tyr38Cys) single nucleotide variant Pathogenic rs1555765564 19:44030780-44030780 19:43526628-43526628
6 ETHE1 NM_014297.5(ETHE1): c.127_128AG[2] (p.Glu44fs) short repeat Pathogenic rs761827730 19:44030761-44030762 19:43526609-43526610
7 ETHE1 NM_014297.5(ETHE1): c.164T> C (p.Leu55Pro) single nucleotide variant Pathogenic rs182983506 19:44030729-44030729 19:43526577-43526577
8 ETHE1 NM_014297.5(ETHE1): c.187C> T (p.Gln63Ter) single nucleotide variant Pathogenic rs368778231 19:44030706-44030706 19:43526554-43526554
9 ETHE1 NM_014297.5(ETHE1): c.222_223insA (p.Ala75fs) insertion Pathogenic rs1555765528 19:44030670-44030671 19:43526518-43526519
10 ETHE1 NM_014297.5(ETHE1): c.230del (p.Asn77fs) deletion Pathogenic rs1555765481 19:44030498-44030498 19:43526346-43526346
11 ETHE1 NM_014297.5(ETHE1): c.440_450del (p.His147fs) deletion Pathogenic rs1555762753 19:44015644-44015654 19:43511492-43511502
12 ETHE1 NM_014297.5(ETHE1): c.455C> T (p.Thr152Ile) single nucleotide variant Pathogenic rs1317633085 19:44015639-44015639 19:43511487-43511487
13 ETHE1 NM_014297.5(ETHE1): c.487C> G (p.Arg163Gly) single nucleotide variant Pathogenic rs28940289 19:44015607-44015607 19:43511455-43511455
14 ETHE1 NM_014297.5(ETHE1): c.491C> A (p.Thr164Lys) single nucleotide variant Pathogenic rs1268640442 19:44015603-44015603 19:43511451-43511451
15 ETHE1 NM_014297.5(ETHE1): c.505+1G> T single nucleotide variant Pathogenic rs935855792 19:44015588-44015588 19:43511436-43511436
16 ETHE1 NM_014297.5(ETHE1): c.592dup (p.His198fs) duplication Pathogenic rs1555762070 19:44012930-44012930 19:43508778-43508778
17 ETHE1 NM_014297.5(ETHE1): c.604dup (p.Val202fs) duplication Pathogenic rs1555761934 19:44012204-44012204 19:43508052-43508052
18 ETHE1 deletion Pathogenic 19:44015589-44015719 :0-0
19 ETHE1 NM_014297.5(ETHE1): c.505+1G> C single nucleotide variant Pathogenic rs935855792 19:44015588-44015588 19:43511436-43511436
20 ETHE1 ETHE1, IVS4DS, G-T, +1 single nucleotide variant Pathogenic
21 ETHE1 ETHE1, EX4DEL deletion Pathogenic
22 ETHE1 ETHE1, 1-BP INS, 221A insertion Pathogenic
23 ETHE1 ETHE1, 11-BP DEL, NT440 deletion Pathogenic
24 ETHE1 NM_014297.5(ETHE1): c.487C> T (p.Arg163Trp) single nucleotide variant Pathogenic rs28940289 19:44015607-44015607 19:43511455-43511455
25 ETHE1 NM_014297.5(ETHE1): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs119103249 19:44031327-44031327 19:43527175-43527175
26 ETHE1 ETHE1, 1-BP INS, 604G insertion Pathogenic
27 ETHE1 NM_014297.5(ETHE1): c.554T> G (p.Leu185Arg) single nucleotide variant Pathogenic rs387906987 19:44012968-44012968 19:43508816-43508816
28 ETHE1 NM_014297.5(ETHE1): c.586G> A (p.Asp196Asn) single nucleotide variant Pathogenic rs763799125 19:44012936-44012936 19:43508784-43508784
29 ETHE1 NM_014297.5(ETHE1): c.375+5G> A single nucleotide variant Pathogenic rs769259233 19:44030348-44030348 19:43526196-43526196
30 ETHE1 NM_014297.5(ETHE1): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic rs745656120 19:44015606-44015606 19:43511454-43511454
31 ETHE1 NM_014297.5(ETHE1): c.79C> A (p.Gln27Lys) single nucleotide variant Pathogenic rs749803238 19:44031251-44031251 19:43527099-43527099
32 ETHE1 NM_014297.5(ETHE1): c.295C> T (p.Gln99Ter) single nucleotide variant Pathogenic 19:44030433-44030433 19:43526281-43526281
33 ETHE1 NC_000019.9: g.(?_44010992)_(44015728_?)del deletion Likely pathogenic 19:44010992-44015728 19:43506840-43511576
34 ETHE1 NM_014297.5(ETHE1): c.595+2T> G single nucleotide variant Likely pathogenic 19:44012925-44012925 19:43508773-43508773
35 ETHE1 NM_014297.5(ETHE1): c.505+1G> A single nucleotide variant Likely pathogenic rs935855792 19:44015588-44015588 19:43511436-43511436
36 ETHE1 NM_014297.5(ETHE1): c.494A> G (p.Asp165Gly) single nucleotide variant Likely pathogenic rs756235299 19:44015600-44015600 19:43511448-43511448
37 ETHE1 NM_014297.5(ETHE1): c.482G> A (p.Cys161Tyr) single nucleotide variant Likely pathogenic rs1555762722 19:44015612-44015612 19:43511460-43511460
38 ETHE1 NM_014297.5(ETHE1): c.226+1G> T single nucleotide variant Likely pathogenic rs1555765524 19:44030666-44030666 19:43526514-43526514
39 ETHE1 NM_014297.4(ETHE1): c.-47C> T single nucleotide variant Conflicting interpretations of pathogenicity rs368890798 19:44031376-44031376 19:43527224-43527224
40 ETHE1 NM_014297.4(ETHE1): c.-45G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144136377 19:44031374-44031374 19:43527222-43527222
41 ETHE1 NM_014297.5(ETHE1): c.476G> A (p.Arg159His) single nucleotide variant Conflicting interpretations of pathogenicity rs768669208 19:44015618-44015618 19:43511466-43511466
42 ETHE1 NM_014297.5(ETHE1): c.184G> A (p.Ala62Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138958351 19:44030709-44030709 19:43526557-43526557
43 ETHE1 NM_014297.5(ETHE1): c.278C> T (p.Ser93Phe) single nucleotide variant Uncertain significance rs199827754 19:44030450-44030450 19:43526298-43526298
44 ETHE1 NM_014297.5(ETHE1): c.417T> G (p.Cys139Trp) single nucleotide variant Uncertain significance 19:44015677-44015677 19:43511525-43511525
45 ETHE1 NM_014297.5(ETHE1): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance 19:44031328-44031328 19:43527176-43527176
46 ETHE1 NM_014297.5(ETHE1): c.761C> T (p.Ala254Val) single nucleotide variant Uncertain significance 19:44011006-44011006 19:43506854-43506854
47 ETHE1 NM_014297.5(ETHE1): c.317G> C (p.Ser106Thr) single nucleotide variant Uncertain significance rs886054480 19:44030411-44030411 19:43526259-43526259
48 ETHE1 NM_014297.5(ETHE1): c.197A> G (p.Lys66Arg) single nucleotide variant Uncertain significance rs777252863 19:44030696-44030696 19:43526544-43526544
49 ETHE1 NM_014297.5(ETHE1): c.9G> A (p.Glu3=) single nucleotide variant Uncertain significance rs773937760 19:44031321-44031321 19:43527169-43527169
50 ETHE1 NM_014297.4(ETHE1): c.-52G> C single nucleotide variant Uncertain significance rs886054481 19:44031381-44031381 19:43527229-43527229

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

74
# Symbol AA change Variation ID SNP ID
1 ETHE1 p.Tyr38Cys VAR_023395 rs155576556
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

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 TST SUOX ETHE1 ACADS
2 mitochondrial intermembrane space GO:0005758 9.16 SUOX AIFM1
3 mitochondrion GO:0005739 9.1 TST SUOX ETHE1 COX4I2 AIFM1 ACADS

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 SUOX ETHE1 COX4I2 AIFM1 ACADS
2 sulfide oxidation, using sulfide:quinone oxidoreductase GO:0070221 8.96 SUOX ETHE1

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 AIFM1 ACADS
2 oxidoreductase activity GO:0016491 8.92 SUOX ETHE1 AIFM1 ACADS

Sources for Encephalopathy, Ethylmalonic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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