MCID: ENC055
MIFTS: 45

Encephalopathy, Ethylmalonic

Categories: Genetic diseases, Rare diseases, Metabolic 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 37 29 13 6 44 15 40 73
Encephalopathy, Petechiae, and Ethylmalonic Aciduria 53 25
Epema Syndrome 53 25
Ee 57 75
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:

OMIM 57 602473
Disease Ontology 12 DOID:0060640
ICD10 33 G31.8
MeSH 44 C535737
Orphanet 59 ORPHA51188
MESH via Orphanet 45 C535737
UMLS via Orphanet 74 C1865349
ICD10 via Orphanet 34 G31.8
MedGen 42 C1865349
KEGG 37 H01249
UMLS 73 C1865349

Summaries for Encephalopathy, Ethylmalonic

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.

MalaCards based summary : Encephalopathy, Ethylmalonic, also known as ethylmalonic encephalopathy, is related to eosinophilia-myalgia syndrome and erythema multiforme, and has symptoms including ataxia, seizures 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 petechiae and intellectual disability

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 : 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.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 all 23)
# Related Disease Score Top Affiliating Genes
1 eosinophilia-myalgia syndrome 12.0
2 erythema multiforme 11.8
3 epileptic encephalopathy, early infantile, 3 11.2
4 epileptic encephalopathy, early infantile, 4 11.2
5 erythromelalgia 11.1
6 esophagitis, eosinophilic, 1 11.1
7 pulmonary embolism 11.0
8 pulmonary fibrosis, idiopathic 10.9
9 cystic fibrosis 10.9
10 macs syndrome 10.9
11 coccidioidomycosis 10.9
12 hemophilia 10.9
13 encephalopathy 10.3
14 thalassemia 10.1
15 ovarian disease 10.0
16 hyperandrogenism 10.0
17 esophagitis 10.0
18 schizophrenia 9.8
19 alpha-thalassemia 9.8
20 human immunodeficiency virus type 1 9.8
21 sarcoma 9.8
22 extraosseous ewing's sarcoma 9.8
23 ewing's family of tumors 9.8

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



Diseases related to Encephalopathy, Ethylmalonic

Symptoms & Phenotypes for Encephalopathy, Ethylmalonic

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

Human phenotypes related to Encephalopathy, Ethylmalonic:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 petechiae 32 HP:0000967
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 ataxia 32 HP:0001251
5 muscular hypotonia 32 HP:0001252
6 global developmental delay 32 HP:0001263
7 generalized hypotonia 32 HP:0001290
8 encephalopathy 32 HP:0001298
9 failure to thrive 32 HP:0001508
10 chronic diarrhea 32 HP:0002028
11 abnormality of extrapyramidal motor function 32 HP:0002071
12 developmental regression 32 HP:0002376
13 lactic acidosis 32 HP:0003128
14 ethylmalonic aciduria 32 HP:0003219
15 cytochrome c oxidase-negative muscle fibers 32 HP:0003688
16 focal t2 hyperintense basal ganglia lesion 32 HP:0007183
17 abnormality of the retinal vasculature 32 HP:0008046

UMLS symptoms related to Encephalopathy, Ethylmalonic:


ataxia, seizures, 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 9.35 ACADS AIFM1 COX4I2 ETHE1 TST
2 homeostasis/metabolism MP:0005376 9.02 ACADS AIFM1 COX4I2 DDAH1 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

Publications for Encephalopathy, Ethylmalonic

Articles related to Encephalopathy, Ethylmalonic:

(show all 41)
# Title Authors Year
1
Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy. ( 28698729 )
2017
2
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
3
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency. ( 29159724 )
2017
4
Ethylmalonic Encephalopathy in an Indian Boy. ( 27771676 )
2016
5
Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease. ( 26917598 )
2016
6
Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine. ( 27830356 )
2016
7
Diffusion restriction in ethylmalonic encephalopathy - An imaging evidence of the pathophysiology of the disease. ( 26992475 )
2016
8
Protein polysulfidation-dependent persulfide dioxygenase activity of ethylmalonic encephalopathy protein 1. ( 27742479 )
2016
9
Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy. ( 25596185 )
2015
10
Severe early onset ethylmalonic encephalopathy with West syndrome. ( 26194623 )
2015
11
Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre. ( 25198162 )
2014
12
The mitochondrial sulfur dioxygenase ETHYLMALONIC ENCEPHALOPATHY PROTEIN1 is required for amino acid catabolism during carbohydrate starvation and embryo development in Arabidopsis. ( 24692429 )
2014
13
An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder. ( 22805253 )
2013
14
Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy. ( 23284046 )
2013
15
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy. ( 22903887 )
2012
16
Ethylmalonic encephalopathy associated with crescentic glomerulonephritis. ( 22584649 )
2012
17
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy. ( 22020834 )
2012
18
Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy. ( 20812865 )
2011
19
Proteomics reveals that redox regulation is disrupted in patients with ethylmalonic encephalopathy. ( 21410200 )
2011
20
Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches. ( 20528888 )
2011
21
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. ( 20657580 )
2010
22
Novel ETHE1 mutation in a carrier couple having prior offspring affected with ethylmalonic encephalopathy: Genetic analysis, clinical management and reproductive outcome. ( 21472225 )
2010
23
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. ( 20978941 )
2010
24
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. ( 19136963 )
2009
25
Ethylmalonic encephalopathy. Another patient from Kuwait. ( 21048580 )
2009
26
Clinical heterogeneity in ethylmalonic encephalopathy. ( 19289697 )
2009
27
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. ( 18593870 )
2008
28
Ethylmalonic encephalopathy: clinical and biochemical observations. ( 17712735 )
2007
29
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. ( 16828325 )
2006
30
Ethylmalonic encephalopathy-report of two cases. ( 16376514 )
2006
31
ETHE1 mutations are specific to ethylmalonic encephalopathy. ( 16183799 )
2006
32
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. ( 16906473 )
2006
33
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. ( 14732903 )
2004
34
The role of methionine in ethylmalonic encephalopathy with petechiae. ( 15096407 )
2004
35
Brain mitochondrial impairment in ethylmalonic encephalopathy. ( 15311356 )
2004
36
Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes. ( 12872841 )
2003
37
Ethylmalonic encephalopathy: further clinical and neuroradiological characterization. ( 12382164 )
2002
38
Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin. ( 11916321 )
2001
39
Central nervous system malformations in ethylmalonic encephalopathy. ( 9475600 )
1998
40
Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. ( 9667231 )
1998
41
Ethylmalonic Encephalopathy ( 28933811 )
1993

Variations for Encephalopathy, Ethylmalonic

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

75
# Symbol AA change Variation ID SNP ID
1 ETHE1 p.Tyr38Cys VAR_023395
2 ETHE1 p.Thr136Ala VAR_023396
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
7 ETHE1 p.Arg163Gln VAR_069509 rs745656120
8 ETHE1 p.Thr164Lys VAR_069510
9 ETHE1 p.Asp196Asn VAR_069511 rs763799125

ClinVar genetic disease variations for Encephalopathy, Ethylmalonic:

6
(show top 50) (show all 94)
# 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_014297.4(ETHE1): c.3G> T single nucleotide variant Pathogenic rs119103249 GRCh37 Chromosome 19, 44031327: 44031327
4 ETHE1 NM_014297.4(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.488G> A (p.Arg163Gln) single nucleotide variant Likely pathogenic rs745656120 GRCh38 Chromosome 19, 43511454: 43511454
13 ETHE1 NM_014297.4(ETHE1): c.488G> A (p.Arg163Gln) single nucleotide variant Likely pathogenic rs745656120 GRCh37 Chromosome 19, 44015606: 44015606
14 ETHE1 NM_014297.4(ETHE1): c.278C> T (p.Ser93Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs199827754 GRCh38 Chromosome 19, 43526298: 43526298
15 ETHE1 NM_014297.4(ETHE1): c.278C> T (p.Ser93Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs199827754 GRCh37 Chromosome 19, 44030450: 44030450
16 ETHE1 NM_014297.4(ETHE1): c.184G> A (p.Ala62Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138958351 GRCh37 Chromosome 19, 44030709: 44030709
17 ETHE1 NM_014297.4(ETHE1): c.184G> A (p.Ala62Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138958351 GRCh38 Chromosome 19, 43526557: 43526557
18 ETHE1 NM_014297.4(ETHE1): c.6G> A (p.Ala2=) single nucleotide variant Benign rs3810381 GRCh37 Chromosome 19, 44031324: 44031324
19 ETHE1 NM_014297.4(ETHE1): c.6G> A (p.Ala2=) single nucleotide variant Benign rs3810381 GRCh38 Chromosome 19, 43527172: 43527172
20 ETHE1 NM_014297.4(ETHE1): c.317G> C (p.Ser106Thr) single nucleotide variant Uncertain significance rs886054480 GRCh38 Chromosome 19, 43526259: 43526259
21 ETHE1 NM_014297.4(ETHE1): c.317G> C (p.Ser106Thr) single nucleotide variant Uncertain significance rs886054480 GRCh37 Chromosome 19, 44030411: 44030411
22 ETHE1 NM_014297.4(ETHE1): c.197A> G (p.Lys66Arg) single nucleotide variant Uncertain significance rs777252863 GRCh38 Chromosome 19, 43526544: 43526544
23 ETHE1 NM_014297.4(ETHE1): c.197A> G (p.Lys66Arg) single nucleotide variant Uncertain significance rs777252863 GRCh37 Chromosome 19, 44030696: 44030696
24 ETHE1 NM_014297.4(ETHE1): c.9G> A (p.Glu3=) single nucleotide variant Uncertain significance rs773937760 GRCh38 Chromosome 19, 43527169: 43527169
25 ETHE1 NM_014297.4(ETHE1): c.9G> A (p.Glu3=) single nucleotide variant Uncertain significance rs773937760 GRCh37 Chromosome 19, 44031321: 44031321
26 ETHE1 NM_014297.4(ETHE1): c.-52G> C single nucleotide variant Uncertain significance rs886054481 GRCh38 Chromosome 19, 43527229: 43527229
27 ETHE1 NM_014297.4(ETHE1): c.-52G> C single nucleotide variant Uncertain significance rs886054481 GRCh37 Chromosome 19, 44031381: 44031381
28 ETHE1 NM_014297.4(ETHE1): c.*31A> G single nucleotide variant Uncertain significance rs778362220 GRCh38 Chromosome 19, 43506819: 43506819
29 ETHE1 NM_014297.4(ETHE1): c.*31A> G single nucleotide variant Uncertain significance rs778362220 GRCh37 Chromosome 19, 44010971: 44010971
30 ETHE1 NM_014297.4(ETHE1): c.*55G> T single nucleotide variant Uncertain significance rs201842186 GRCh38 Chromosome 19, 43506795: 43506795
31 ETHE1 NM_014297.4(ETHE1): c.*55G> T single nucleotide variant Uncertain significance rs201842186 GRCh37 Chromosome 19, 44010947: 44010947
32 ETHE1 NM_014297.4(ETHE1): c.376-5G> C single nucleotide variant Uncertain significance rs886054479 GRCh38 Chromosome 19, 43511571: 43511571
33 ETHE1 NM_014297.4(ETHE1): c.376-5G> C single nucleotide variant Uncertain significance rs886054479 GRCh37 Chromosome 19, 44015723: 44015723
34 ETHE1 NM_014297.4(ETHE1): c.-53C> T single nucleotide variant Uncertain significance rs886054482 GRCh38 Chromosome 19, 43527230: 43527230
35 ETHE1 NM_014297.4(ETHE1): c.-53C> T single nucleotide variant Uncertain significance rs886054482 GRCh37 Chromosome 19, 44031382: 44031382
36 ETHE1 NM_014297.4(ETHE1): c.-58G> T single nucleotide variant Uncertain significance rs886054483 GRCh38 Chromosome 19, 43527235: 43527235
37 ETHE1 NM_014297.4(ETHE1): c.-58G> T single nucleotide variant Uncertain significance rs886054483 GRCh37 Chromosome 19, 44031387: 44031387
38 ETHE1 NM_014297.4(ETHE1): c.371G> T (p.Arg124Leu) single nucleotide variant Uncertain significance rs770508697 GRCh38 Chromosome 19, 43526205: 43526205
39 ETHE1 NM_014297.4(ETHE1): c.371G> T (p.Arg124Leu) single nucleotide variant Uncertain significance rs770508697 GRCh37 Chromosome 19, 44030357: 44030357
40 ETHE1 NM_014297.4(ETHE1): c.-41G> A single nucleotide variant Benign rs3810380 GRCh38 Chromosome 19, 43527218: 43527218
41 ETHE1 NM_014297.4(ETHE1): c.-41G> A single nucleotide variant Benign rs3810380 GRCh37 Chromosome 19, 44031370: 44031370
42 ETHE1 NM_014297.4(ETHE1): c.-62C> G single nucleotide variant Likely benign rs114033490 GRCh38 Chromosome 19, 43527239: 43527239
43 ETHE1 NM_014297.4(ETHE1): c.-62C> G single nucleotide variant Likely benign rs114033490 GRCh37 Chromosome 19, 44031391: 44031391
44 ETHE1 NC_000019.9: g.(?_44015589)_(44015719_?)del deletion Pathogenic GRCh37 Chromosome 19, 44015589: 44015719
45 ETHE1 NM_014297.4(ETHE1): c.505+1G> C single nucleotide variant Pathogenic rs935855792 GRCh37 Chromosome 19, 44015588: 44015588
46 ETHE1 NM_014297.4(ETHE1): c.505+1G> C single nucleotide variant Pathogenic rs935855792 GRCh38 Chromosome 19, 43511436: 43511436
47 ETHE1 NM_014297.4(ETHE1): c.494A> G (p.Asp165Gly) single nucleotide variant Likely pathogenic rs756235299 GRCh38 Chromosome 19, 43511448: 43511448
48 ETHE1 NM_014297.4(ETHE1): c.494A> G (p.Asp165Gly) single nucleotide variant Likely pathogenic rs756235299 GRCh37 Chromosome 19, 44015600: 44015600
49 ETHE1 NM_014297.4(ETHE1): c.482G> A (p.Cys161Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 19, 43511460: 43511460
50 ETHE1 NM_014297.4(ETHE1): c.482G> A (p.Cys161Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 19, 44015612: 44015612

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 inner membrane GO:0005743 9.33 AIFM1 COX4I2 TST
2 mitochondrial matrix GO:0005759 9.13 ACADS ETHE1 TST
3 mitochondrion GO:0005739 9.1 ACADS AIFM1 COX4I2 DDAH1 ETHE1 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 8.92 ACADS AIFM1 COX4I2 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 9.13 ACADS AIFM1 ETHE1
2 flavin adenine dinucleotide binding GO:0050660 8.62 ACADS AIFM1

Sources for Encephalopathy, Ethylmalonic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....