EE
MCID: ENC055
MIFTS: 53

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 56 52 54
Ethylmalonic Encephalopathy 56 12 24 52 25 58 73 36 29 13 6 43 15 39 71
Encephalopathy, Petechiae, and Ethylmalonic Aciduria 52 25
Epema Syndrome 52 25
Ee 56 73
Syndrome of Encephalopathy, Petechiae, and Ethylmalonic Aciduria 52
Ethe1 Deficiency 24
Eme 52

Characteristics:

Orphanet epidemiological data:

58
ethylmalonic encephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

56
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:

31
encephalopathy, ethylmalonic:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060640
OMIM 56 602473
KEGG 36 H01249
MeSH 43 C535737
SNOMED-CT 67 723307008
MESH via Orphanet 44 C535737
ICD10 via Orphanet 33 E88.8
UMLS via Orphanet 72 C1865349
Orphanet 58 ORPHA51188
MedGen 41 C1865349
UMLS 71 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 acyl-coa dehydrogenase, short-chain, deficiency of and acyl-coa dehydrogenase deficiency, 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 Viral mRNA Translation. 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 : 52 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 : 56 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 : 36 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 : 73 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 : 74 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 489)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, short-chain, deficiency of 30.3 ETHE1 ACADS ACAD8
2 acyl-coa dehydrogenase deficiency 30.3 ACADS ACAD8
3 3-methylglutaconic aciduria, type iii 28.9 TYMP TMEM70 MPV17 ETHE1 ACADS
4 mitochondrial metabolism disease 28.4 TYMP TMEM70 SUOX SQOR MPV17 ETHE1
5 erythema multiforme 12.4
6 eosinophilia-myalgia syndrome 12.2
7 epileptic encephalopathy, early infantile, 3 11.5
8 esophagitis, eosinophilic, 1 11.4
9 erythromelalgia 11.4
10 lyme disease 11.3
11 pulmonary embolism 11.3
12 epileptic encephalopathy, early infantile, 4 11.2
13 severe cutaneous adverse reaction 11.2
14 alpha-1-antitrypsin deficiency 11.2
15 pulmonary fibrosis, idiopathic 11.2
16 arterial calcification, generalized, of infancy, 1 11.2
17 cystic fibrosis 11.2
18 arterial calcification of infancy 11.2
19 coccidioidomycosis 11.2
20 hemophilia 11.2
21 mycobacterium abscessus 11.2
22 stachybotrys chartarum 11.2
23 cardiac arrest 10.6
24 diarrhea 10.6
25 encephalopathy 10.5
26 autosomal recessive disease 10.4
27 sulfite oxidase deficiency, isolated 10.4 SUOX ETHE1
28 thalassemia 10.4
29 neurofibromatosis, type ii 10.3
30 ventricular fibrillation, paroxysmal familial, 1 10.3
31 kidney disease 10.3
32 chronic kidney disease 10.3
33 3-methylglutaconic aciduria, type iv 10.3 TMEM70 NUDT16L1
34 helix syndrome 10.3
35 major affective disorder 8 10.2
36 major affective disorder 9 10.2
37 bipolar disorder 10.2
38 organic acidemia 10.2
39 purpura 10.2
40 dystonia 10.2
41 hypotonia 10.2
42 sulfhemoglobinemia 10.2 SQOR MPST ETHE1
43 hernia, hiatus 10.2
44 esophagitis 10.2
45 hemoglobin e disease 10.2
46 fumarase deficiency 10.2 TMEM70 ETHE1
47 biotinidase deficiency 10.2 SUOX ACADS
48 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
49 ectopia lentis 1, isolated, autosomal dominant 10.2 SUOX CBSL
50 ectopia lentis 2, isolated, autosomal recessive 10.2 SUOX CBSL

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:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001298
2 ethylmalonic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003219
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
5 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
6 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
7 acrocyanosis 58 31 frequent (33%) Frequent (79-30%) HP:0001063
8 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
9 neurodevelopmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0012758
10 abnormality of extrapyramidal motor function 58 31 frequent (33%) Frequent (79-30%) HP:0002071
11 petechiae 58 31 frequent (33%) Frequent (79-30%) HP:0000967
12 lactic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0003128
13 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
14 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
15 abnormal basal ganglia mri signal intensity 58 31 frequent (33%) Frequent (79-30%) HP:0012751
16 retinal vascular tortuosity 58 31 frequent (33%) Frequent (79-30%) HP:0012841
17 seizure 31 frequent (33%) HP:0001250
18 abnormal brainstem mri signal intensity 58 31 occasional (7.5%) Occasional (29-5%) HP:0012747
19 global developmental delay 31 HP:0001263
20 muscular hypotonia 31 HP:0001252
21 seizures 58 Frequent (79-30%)
22 chronic diarrhea 31 HP:0002028
23 focal t2 hyperintense basal ganglia lesion 31 HP:0007183
24 cytochrome c oxidase-negative muscle fibers 31 HP:0003688
25 abnormal retinal vascular morphology 31 HP:0008046

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
developmental regression
ataxia
hypotonia
developmental delay
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 ACAD8 ACADS CBSL CTH ETHE1 MPST
2 renal/urinary system MP:0005367 9.1 ACAD8 ACADS CBSL CTH ETHE1 MPV17

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:

40
Skin, Brain, Skeletal Muscle, Liver, Cortex, Colon

Publications for Encephalopathy, Ethylmalonic

Articles related to Encephalopathy, Ethylmalonic:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. 6 56 24 54 61
18593870 2008
2
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. 54 61 24 6 56
14732903 2004
3
Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches. 56 24 6 61
20528888 2011
4
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. 61 56 24
20657580 2010
5
Ethylmalonic encephalopathy: further clinical and neuroradiological characterization. 24 56 61
12382164 2002
6
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. 56 24
8283379 1994
7
Ethylmalonic Encephalopathy 61 6
28933811 2017
8
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. 61 56
19136963 2009
9
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. 61 24 54
16906473 2006
10
ETHE1 mutations are specific to ethylmalonic encephalopathy. 24 61 54
16183799 2006
11
Central nervous system malformations in ethylmalonic encephalopathy. 56 61
9475600 1998
12
Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine. 24 61
27830356 2017
13
Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease. 24 61
26917598 2016
14
Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches. 24 61
26194912 2015
15
Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy. 61 24
23284046 2013
16
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy. 24 61
22903887 2012
17
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy. 61 24
22020834 2012
18
Clinical heterogeneity in ethylmalonic encephalopathy. 24 61
19289697 2009
19
Ethylmalonic encephalopathy: clinical and biochemical observations. 61 24
17712735 2007
20
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. 61 24
16828325 2006
21
Ethylmalonic encephalopathy-report of two cases. 24 61
16376514 2006
22
Brain mitochondrial impairment in ethylmalonic encephalopathy. 61 24
15311356 2004
23
Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. 56
9367300 1997
24
Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. 56
7726376 1994
25
New clinical phenotype of branched-chain acyl-CoA oxidation defect. 56
1683940 1991
26
Mitochondrial diseases. 24
27775730 2016
27
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. 24
21325949 2011
28
Chronic early postnatal administration of ethylmalonic acid to rats causes behavioral deficit. 61 54
18950661 2009
29
Spectroscopic studies on Arabidopsis ETHE1, a glyoxalase II-like protein. 54 61
18656261 2008
30
Structure of an ETHE1-like protein from Arabidopsis thaliana. 54 61
16929096 2006
31
Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review. 61
32485156 2020
32
Child Neurology: Ethylmalonic encephalopathy. 61
32111695 2020
33
Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report. 61
32362910 2020
34
ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts. 61
31477743 2019
35
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy. 61
30864297 2019
36
ETHE1 overexpression promotes SIRT1 and PGC1α mediated aerobic glycolysis, oxidative phosphorylation, mitochondrial biogenesis and colorectal cancer. 61
31258845 2019
37
Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy. 61
30349987 2019
38
Deficiency of the mitochondrial sulfide regulator ETHE1 disturbs cell growth, glutathione level and causes proteome alterations outside mitochondria. 61
30391543 2019
39
Structure-Based Design of Versatile Biosensors for Small Molecules Based on the PAS Domain of a Thermophilic Histidine Kinase. 61
30525476 2018
40
[Clinical and genetic analysis of a case with atypical ethyl malonate encephalopathy]. 61
30298498 2018
41
Mechanism-based inhibition of human persulfide dioxygenase by γ-glutamyl-homocysteinyl-glycine. 61
29980601 2018
42
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency. 61
29159724 2018
43
An unusual cause of cavitating leukoencephalopathy: ethylmalonic encephalopathy. 61
29464661 2018
44
Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy. 61
29526615 2018
45
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. 61
28624490 2017
46
Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy. 61
28698729 2017
47
Differential protein expression in metallothionein protection from depleted uranium-induced nephrotoxicity. 61
27966587 2016
48
Protein polysulfidation-dependent persulfide dioxygenase activity of ethylmalonic encephalopathy protein 1. 61
27742479 2016
49
Ethylmalonic Encephalopathy in an Indian Boy. 61
27771676 2016
50
Diffusion restriction in ethylmalonic encephalopathy - An imaging evidence of the pathophysiology of the disease. 61
26992475 2016

Variations for Encephalopathy, Ethylmalonic

ClinVar genetic disease variations for Encephalopathy, Ethylmalonic:

6 (show top 50) (show all 86) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ETHE1 NM_014297.5(ETHE1):c.406A>G (p.Thr136Ala)SNV Pathogenic 496426 rs1284200516 19:44015688-44015688 19:43511536-43511536
2 ETHE1 NM_014297.4(ETHE1):c.-67-16_-67-12delCGCCCshort repeat Pathogenic 504489 rs1211555765 19:44031408-44031412 19:43527256-43527260
3 ETHE1 NM_014297.5(ETHE1):c.34C>T (p.Gln12Ter)SNV Pathogenic 504490 rs1555765701 19:44031296-44031296 19:43527144-43527144
4 ETHE1 NM_014297.5(ETHE1):c.66del (p.Ile23fs)deletion Pathogenic 504491 rs1555765689 19:44031264-44031264 19:43527112-43527112
5 ETHE1 NM_014297.5(ETHE1):c.113A>G (p.Tyr38Cys)SNV Pathogenic 504492 rs1555765564 19:44030780-44030780 19:43526628-43526628
6 ETHE1 NM_014297.5(ETHE1):c.127_128AG[2] (p.Glu44fs)short repeat Pathogenic 504493 rs761827730 19:44030761-44030762 19:43526609-43526610
7 ETHE1 NM_014297.5(ETHE1):c.164T>C (p.Leu55Pro)SNV Pathogenic 504494 rs182983506 19:44030729-44030729 19:43526577-43526577
8 ETHE1 NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter)SNV Pathogenic 504495 rs368778231 19:44030706-44030706 19:43526554-43526554
9 ETHE1 NM_014297.5(ETHE1):c.222_223insA (p.Ala75fs)insertion Pathogenic 504496 rs1555765528 19:44030670-44030671 19:43526518-43526519
10 ETHE1 NM_014297.5(ETHE1):c.230del (p.Asn77fs)deletion Pathogenic 504497 rs1555765481 19:44030498-44030498 19:43526346-43526346
11 ETHE1 NM_014297.5(ETHE1):c.440_450del (p.His147fs)deletion Pathogenic 504498 rs1555762753 19:44015644-44015654 19:43511492-43511502
12 ETHE1 NM_014297.5(ETHE1):c.455C>T (p.Thr152Ile)SNV Pathogenic 504499 rs1317633085 19:44015639-44015639 19:43511487-43511487
13 ETHE1 NM_014297.5(ETHE1):c.487C>G (p.Arg163Gly)SNV Pathogenic 504500 rs28940289 19:44015607-44015607 19:43511455-43511455
14 ETHE1 NM_014297.5(ETHE1):c.491C>A (p.Thr164Lys)SNV Pathogenic 504501 rs1268640442 19:44015603-44015603 19:43511451-43511451
15 ETHE1 NM_014297.5(ETHE1):c.505+1G>TSNV Pathogenic 504502 rs935855792 19:44015588-44015588 19:43511436-43511436
16 ETHE1 NM_014297.5(ETHE1):c.505+1G>CSNV Pathogenic 430736 rs935855792 19:44015588-44015588 19:43511436-43511436
17 ETHE1 NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn)SNV Pathogenic 488508 rs763799125 19:44012936-44012936 19:43508784-43508784
18 ETHE1 NM_014297.5(ETHE1):c.375+5G>ASNV Pathogenic 488509 rs769259233 19:44030348-44030348 19:43526196-43526196
19 ETHE1 NM_014297.5(ETHE1):c.604dup (p.Val202fs)duplication Pathogenic 504504 rs1555761934 19:44012203-44012204 19:43508051-43508052
20 ETHE1 NM_014297.5(ETHE1):c.295C>T (p.Gln99Ter)SNV Pathogenic 640004 19:44030433-44030433 19:43526281-43526281
21 ETHE1 NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys)SNV Pathogenic 617791 rs749803238 19:44031251-44031251 19:43527099-43527099
22 ETHE1 NC_000019.10:g.(?_43506840)_(43527187_?)deldeletion Pathogenic 832480 19:44010992-44031339
23 ETHE1 NC_000019.10:g.(?_43511427)_(43511576_?)deldeletion Pathogenic 830887 19:44015579-44015728
24 ETHE1 NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp)SNV Pathogenic 2317 rs28940289 19:44015607-44015607 19:43511455-43511455
25 ETHE1 NM_014297.5(ETHE1):c.3G>T (p.Met1Ile)SNV Pathogenic 2318 rs119103249 19:44031327-44031327 19:43527175-43527175
26 ETHE1 ETHE1, 1-BP INS, 604Ginsertion Pathogenic 2319
27 ETHE1 ETHE1, 1-BP INS, 221Ainsertion Pathogenic 2320
28 ETHE1 ETHE1, 11-BP DEL, NT440deletion Pathogenic 2321
29 ETHE1 ETHE1, IVS4DS, G-T, +1SNV Pathogenic 2322
30 ETHE1 ETHE1, EX4DELdeletion Pathogenic 2323
31 ETHE1 NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg)SNV Pathogenic 30725 rs387906987 19:44012968-44012968 19:43508816-43508816
32 ETHE1 NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln)SNV Pathogenic 214322 rs745656120 19:44015606-44015606 19:43511454-43511454
33 ETHE1 NC_000019.9:g.(?_44015589)_(44015719_?)deldeletion Pathogenic 374299 19:44015589-44015719
34 ETHE1 NM_014297.5(ETHE1):c.592dup (p.His198fs)duplication Pathogenic/Likely pathogenic 504503 rs1555762070 19:44012929-44012930 19:43508777-43508778
35 ETHE1 NC_000019.10:g.(?_43506840)_(43511576_?)deldeletion Likely pathogenic 646397 19:44010992-44015728 19:43506840-43511576
36 ETHE1 NM_014297.5(ETHE1):c.505+1G>ASNV Likely pathogenic 496427 rs935855792 19:44015588-44015588 19:43511436-43511436
37 ETHE1 NM_014297.5(ETHE1):c.494A>G (p.Asp165Gly)SNV Likely pathogenic 435094 rs756235299 19:44015600-44015600 19:43511448-43511448
38 ETHE1 NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr)SNV Likely pathogenic 435095 rs1555762722 19:44015612-44015612 19:43511460-43511460
39 ETHE1 NM_014297.5(ETHE1):c.226+1G>TSNV Likely pathogenic 536364 rs1555765524 19:44030666-44030666 19:43526514-43526514
40 ETHE1 NM_014297.5(ETHE1):c.595+2T>GSNV Likely pathogenic 577939 rs761661864 19:44012925-44012925 19:43508773-43508773
41 ETHE1 NM_014297.5(ETHE1):c.489G>A (p.Arg163=)SNV Conflicting interpretations of pathogenicity 765706 19:44015605-44015605 19:43511453-43511453
42 ETHE1 NM_014297.5(ETHE1):c.476G>A (p.Arg159His)SNV Conflicting interpretations of pathogenicity 214321 rs768669208 19:44015618-44015618 19:43511466-43511466
43 ETHE1 NM_014297.4(ETHE1):c.-47C>TSNV Conflicting interpretations of pathogenicity 137238 rs368890798 19:44031376-44031376 19:43527224-43527224
44 ETHE1 NM_014297.4(ETHE1):c.-45G>ASNV Conflicting interpretations of pathogenicity 137239 rs144136377 19:44031374-44031374 19:43527222-43527222
45 ETHE1 NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)SNV Conflicting interpretations of pathogenicity 214317 rs138958351 19:44030709-44030709 19:43526557-43526557
46 ETHE1 NM_014297.5(ETHE1):c.9G>A (p.Glu3=)SNV Conflicting interpretations of pathogenicity 329445 rs773937760 19:44031321-44031321 19:43527169-43527169
47 ETHE1 NM_014297.4(ETHE1):c.-52G>CSNV Uncertain significance 329447 rs886054481 19:44031381-44031381 19:43527229-43527229
48 ETHE1 NM_014297.5(ETHE1):c.*31A>GSNV Uncertain significance 329440 rs778362220 19:44010971-44010971 19:43506819-43506819
49 ETHE1 NM_014297.5(ETHE1):c.*55G>TSNV Uncertain significance 329439 rs201842186 19:44010947-44010947 19:43506795-43506795
50 ETHE1 NM_014297.5(ETHE1):c.376-5G>CSNV Uncertain significance 329441 rs886054479 19:44015723-44015723 19:43511571-43511571

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

73
# 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

Pathways related to Encephalopathy, Ethylmalonic according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 TYMP TST SUOX SQOR SLC25A10 MPST
2
Show member pathways
13.33 TST SUOX SQOR SLC25A10 ETHE1 CTH
3
Show member pathways
11.87 CTH CBSL ACADS
4
Show member pathways
11.32 TST SUOX SQOR SLC25A10 MPST ETHE1
5 10.35 TST SUOX SQOR MPST ETHE1
6 10.06 TST MPST

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 inner membrane GO:0005743 9.46 TMEM70 SQOR SLC25A10 MPV17
2 mitochondrial matrix GO:0005759 9.43 TST SUOX MPST ETHE1 ACADS ACAD8
3 mitochondrion GO:0005739 9.32 TST TMEM70 SUOX SQOR SLC25A10 MPV17

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 9.88 SUOX SQOR ETHE1 ACADS ACAD8
2 mitochondrial genome maintenance GO:0000002 9.46 TYMP MPV17
3 cysteine biosynthetic process GO:0019344 9.43 CTH CBSL
4 sulfur amino acid catabolic process GO:0000098 9.43 TST MPST CTH
5 cysteine biosynthetic process via cystathionine GO:0019343 9.4 CTH CBSL
6 hydrogen sulfide metabolic process GO:0070813 9.37 SQOR ETHE1
7 hydrogen sulfide biosynthetic process GO:0070814 9.33 MPST CTH CBSL
8 cyanate catabolic process GO:0009440 9.32 TST MPST
9 transsulfuration GO:0019346 9.26 TST MPST CTH CBSL
10 sulfide oxidation, using sulfide:quinone oxidoreductase GO:0070221 9.02 TSTD1 SUOX SQOR SLC25A10 ETHE1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.55 SUOX SQOR ETHE1 ACADS ACAD8
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 ACADS ACAD8
3 acyl-CoA dehydrogenase activity GO:0003995 8.96 ACADS ACAD8
4 thiosulfate sulfurtransferase activity GO:0004792 8.62 TST MPST

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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