EE
MCID: ETH011
MIFTS: 56

Ethylmalonic Encephalopathy (EE) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Eye diseases

Aliases & Classifications for Ethylmalonic Encephalopathy

Aliases & Descriptions for Ethylmalonic Encephalopathy:

Name: Ethylmalonic Encephalopathy 54 12 50 24 25 56 66 13 42 14 69
Encephalopathy, Ethylmalonic 54 50 29 52
Encephalopathy, Petechiae, and Ethylmalonic Aciduria 50 25
Epema Syndrome 50 25
Eye Diseases 52 41
Eme 50 25
Ee 66 29
Syndrome of Encephalopathy, Petechiae, and Ethylmalonic Aciduria 50
Disorder of Eye 69

Characteristics:

Orphanet epidemiological data:

56
ethylmalonic encephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

HPO:

32
ethylmalonic encephalopathy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 602473
Disease Ontology 12 DOID:0060640
ICD10 33 G31.8
MeSH 42 C535737
Orphanet 56 ORPHA51188
MESH via Orphanet 43 C535737
UMLS via Orphanet 70 C1865349
ICD10 via Orphanet 34 G31.8
MedGen 40 C1865349
UMLS 69 C1865349

Summaries for Ethylmalonic Encephalopathy

MedlinePlus : 41 some eye problems are minor and don't last long. but some can lead to a permanent loss of vision. common eye problems include refractive errors cataracts - clouded lenses optic nerve disorders, including glaucoma retinal disorders - problems with the nerve layer at the back of the eye macular degeneration - a disease that destroys sharp, central vision diabetic eye problems conjunctivitis - an infection also known as pinkeye your best defense is to have regular checkups, because eye diseases do not always have symptoms. early detection and treatment could prevent vision loss. see an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. other symptoms that need quick attention are pain, double vision, fluid coming from the eye, and inflammation. nih: national eye institute

MalaCards based summary : Ethylmalonic Encephalopathy, also known as encephalopathy, ethylmalonic, is related to fish-eye disease and aland island eye disease, and has symptoms including ataxia, seizures and abnormality of extrapyramidal motor function. An important gene associated with Ethylmalonic Encephalopathy is ETHE1 (ETHE1, Persulfide Dioxygenase). The drugs Ethanol and Heparin have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and brain, and related phenotype is pigmentation.

NIH Rare Diseases : 50 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. last updated: 8/26/2011

UniProtKB/Swiss-Prot : 66 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.

Genetics Home Reference : 25 Ethylmalonic encephalopathy is an inherited disorder that 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 (the vascular system) 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 of ethylmalonic encephalopathy.

OMIM : 54 Ethylmalonic encephalopathy is an autosomal recessive severe metabolic disorder of infancy affecting the brain,... (602473) more...

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.

Wikipedia : 71 Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. Patients... more...

Related Diseases for Ethylmalonic Encephalopathy

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

(show top 50) (show all 184)
id Related Disease Score Top Affiliating Genes
1 fish-eye disease 12.2
2 aland island eye disease 12.2
3 eye disease 12.1
4 bornholm eye disease 12.1
5 eosinophilia-myalgia syndrome 11.9
6 erythema multiforme 11.7
7 norum disease 11.3
8 early myoclonic encephalopathy 11.1
9 erythromelalgia 11.0
10 superior limbic keratoconjunctivitis 10.8
11 myopia, x-linked 10.8
12 colobomatous microphthalmia 10.8
13 coccidioidomycosis 10.8
14 epileptic encephalopathy, early infantile, 4 10.8
15 epileptic encephalopathy, early infantile, 3 10.8
16 night blindness 10.7
17 familial lcat deficiency 10.7
18 ocular hypertension 10.7
19 cavitary optic disc anomalies 10.7
20 encephalopathy 10.6
21 macular degeneration, age-related, 1 10.5
22 retinitis pigmentosa 10.5
23 retinal disease 10.5
24 senior-loken syndrome-1 10.5
25 usher syndrome 10.5
26 thyroiditis 10.4
27 corneal dystrophy, schnyder type 10.3
28 senior-loken syndrome 8 10.3
29 macular degeneration, age-related, 13 10.3
30 stickler sydrome, type i, nonsyndromic ocular 10.3
31 mental retardation-hypotonic facies syndrome, x-linked 10.3
32 senior-loken syndrome 4 10.3
33 bietti crystalline corneoretinal dystrophy 10.3
34 senior-loken syndrome 6 10.3
35 microphthalmia 10.3
36 senior-loken syndrome 9 10.3
37 macular degeneration, age-related, 2 10.3
38 macular degeneration, age-related, 15 10.3
39 corneal dystrophy, congenital stromal 10.3
40 macular dystrophy, butterfly-shaped pigmentary, 2 10.3
41 pars planitis 10.3
42 retinal detachment 10.3
43 macular degeneration, age-related, 14, reduced risk of 10.3
44 intermediate uveitis 10.3
45 goldmann-favre syndrome 10.3
46 macular degeneration, age-related, 3 10.3
47 pigment dispersion syndrome 10.3
48 iridocorneal endothelial syndrome 10.3
49 meesmann corneal dystrophy 10.3
50 macular degeneration, age-related, 4 10.3

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



Diseases related to Ethylmalonic Encephalopathy

Symptoms & Phenotypes for Ethylmalonic Encephalopathy

Symptoms by clinical synopsis from OMIM:

602473

Clinical features from OMIM:

602473

Human phenotypes related to Ethylmalonic Encephalopathy:

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

UMLS symptoms related to Ethylmalonic Encephalopathy:


eye manifestations, pain in or around eye, redness or discharge of eye, pathological conditions, signs and symptoms, lid retraction, visual disturbance, ataxia, seizures, abnormality of extrapyramidal motor function

MGI Mouse Phenotypes related to Ethylmalonic Encephalopathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.8 NDP SERPINF1 SLC31A1

Drugs & Therapeutics for Ethylmalonic Encephalopathy

Drugs for Ethylmalonic Encephalopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 792)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4,Phase 2 64-17-5 702
2
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
4
Gabapentin Approved, Investigational Phase 4,Phase 1,Phase 2 60142-96-3 3446
5
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
6
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 104987-11-3 445643 439492
7
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757 53477783
8
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
9
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3 51-43-4 5816
10
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2 24280-93-1 446541
11
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2 128794-94-5 5281078
12
Diclofenac Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 15307-86-5 3033
13
Ciprofloxacin Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 85721-33-1 2764
14
Ganciclovir Approved, Investigational Phase 4,Phase 2,Phase 1 82410-32-0 3454
15
Chloramphenicol Approved, Vet_approved Phase 4 56-75-7 298 5959
16
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 9004-61-9 53477741 24759
17
Spironolactone Approved Phase 4,Phase 2,Phase 3 1952-01-7, 52-01-7 5833
18
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 150310 443872
19
Acetylcholine Approved Phase 4,Phase 2,Phase 3 51-84-3 187
20
Atropine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 5908-99-6, 51-55-8 174174
21
Glycerol Approved, Experimental Phase 4,Phase 2,Phase 3 56-81-5 753
22
Azathioprine Approved Phase 4,Phase 2 446-86-6 2265
23
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 75614-87-8, 51-45-6 774
24
rituximab Approved Phase 4,Phase 2,Phase 3,Phase 1 174722-31-7 10201696
25
Topiramate Approved Phase 4 97240-79-4 5284627
26
Infliximab Approved Phase 4,Phase 1,Phase 2 170277-31-3
27
Phenylephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 59-42-7 6041
28
Oxymetazoline Approved Phase 4,Phase 3,Phase 2,Phase 1 1491-59-4 4636
29
Timolol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 26839-75-8 33624 5478
30
Ephedrine Approved Phase 4,Phase 3,Phase 2,Phase 1 299-42-3 9294
31
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-24-8 5755
32
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
33
Propylthiouracil Approved Phase 4,Phase 3 51-52-5 657298
34
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 137-58-6 3676
35
Azithromycin Approved Phase 4,Phase 3,Phase 2,Phase 1 83905-01-5 55185 53477736 447043
36
Acetazolamide Approved, Vet_approved Phase 4,Phase 3,Phase 2 59-66-5 1986
37
Pilocarpine Approved Phase 4,Phase 3 54-71-7, 92-13-7 5910
38
Norgestimate Approved Phase 4,Phase 3,Phase 2,Phase 1 35189-28-7 6540478
39
Ketorolac Approved Phase 4,Phase 3,Phase 2,Phase 1 74103-06-3, 66635-83-4 3826
40
Minocycline Approved, Investigational Phase 4,Phase 2,Phase 1 10118-90-8 5281021
41
Brinzolamide Approved Phase 4,Phase 3,Phase 2 138890-62-7 68844
42
Dorzolamide Approved Phase 4,Phase 2,Phase 3,Phase 1 120279-96-1 3154 5284549
43
Verteporfin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 129497-78-5
44
Ofloxacin Approved Phase 4,Phase 2,Phase 3,Phase 1 82419-36-1 4583
45
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 564-25-0 54671203
46
Tropicamide Approved Phase 4,Phase 3,Phase 2,Phase 1 1508-75-4 5593
47
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 124-94-7 31307
48
Moxifloxacin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 354812-41-2, 151096-09-2 152946
49
Cefazolin Approved Phase 4,Phase 3 25953-19-9 656510 33255
50
Latanoprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 130209-82-4 5282380 5311221

Interventional clinical trials:

(show top 50) (show all 5000)
id Name Status NCT ID Phase
1 The Secondary Beneficial Effects of Prostaglandin Analog Treatment in Thyroid Eye Disease Patients. Unknown status NCT01927406 Phase 4
2 The Effect of Early Total Thyroidectomy in the Course of Graves' Orbitopathy Unknown status NCT01056419 Phase 4
3 A Prospective, Randomized Trial of Intravenous Pulse Versus Sequential Steroid Therapy for Patients With Graves' Orbitopathy Unknown status NCT01969019 Phase 4
4 Lipids of the Human Tear Film and Their Effect on Tear Stability Unknown status NCT00803452 Phase 4
5 Oral Nutrition Impact on Tear Film Unknown status NCT01561040 Phase 4
6 Use of Bevacizumab to Modulate the Outcomes of Trabeculectomy Surgery Unknown status NCT01229202 Phase 4
7 Topical Cyclosporine for the Treatment of Dry Eye in Patients Infected With the Human Immunodeficiency Virus Unknown status NCT00797030 Phase 4
8 Prospective Evaluation of Open-Angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two iStents Unknown status NCT01252862 Phase 4
9 Purpose of This Study is to Evaluate the Safety and Efficacy of One, Two, or Three iStents for the Reduction of Intraocular Pressure in Open-angle Glaucoma Subjects Unknown status NCT01252849 Phase 4
10 Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With Two iStents Unknown status NCT01252888 Phase 4
11 Effectiveness Study of Zymar Versus Vigamox for Preoperative Sterilization of the Ocular Surface After Loading Dose Unknown status NCT00347828 Phase 4
12 Cpap at Delivery Room for Preterm Infants Unknown status NCT01024361 Phase 4
13 Prospective, Randomized, Controlled Study to Assess Efficacy,Safety, and Tolerability of SLT vs. PLT in Patients With POAG Unknown status NCT02231515 Phase 4
14 A New More Efficient Cycloplegia Scheme Unknown status NCT02177539 Phase 4
15 The Laser in Pseudoexfoliation (LIP) Study Unknown status NCT01704989 Phase 4
16 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4
17 The Effect of "Eye Drop Guide" on the Success Rate of Eye Drops Self-instillation in Glaucoma Patients Unknown status NCT01704248 Phase 4
18 Show Improved Vision With the HOYA AF-1 Aspheric Intraocular Lens After Cataract Surgery Unknown status NCT01382641 Phase 4
19 Effects of Cosopt on IOP and on Ocular Diastolic Perfusion Pressure Unknown status NCT00796198 Phase 4
20 A Intra-patient Comparison of Closed Loop and Plate Haptic Toric Intraocular Lenses Unknown status NCT02264457 Phase 4
21 A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser in Asian Eyes Using LASIK Unknown status NCT01977807 Phase 4
22 Combigan Ophthalmic Solution(Brimonidine 0.2% and Timolol 0.5%)With Latanoprost Compared With Latanoprost Monotherapy Unknown status NCT00442312 Phase 4
23 Tear Film Evaluation After Phacoemulsification Unknown status NCT02238015 Phase 4
24 ALPI vs Medical Therapy Effects on Optic Nerve Structure & Function Unknown status NCT00485238 Phase 4
25 Efficacy of Subtenon's Block With Olive Tipped Cannula Unknown status NCT01019018 Phase 4
26 Open-angle Glaucoma Subjects on One Ocular Hypotensive Medication Randomized to Treatment With Two Trabecular Micro-bypass Stents or Selective Laser Trabeculoplasty Unknown status NCT01444105 Phase 4
27 Evaluation of Safety and Efficacy of Glaucoma Shunt (Aurolab Artificial Drainage Implant) in Refractory Glaucoma Unknown status NCT01401088 Phase 4
28 A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser Using LASIK Unknown status NCT02071576 Phase 4
29 Prospective Investigation of SUPRACOR Visual Outcomes of Presbyopic Hyperopic Patients With and Without Astigmatism Unknown status NCT01628146 Phase 4
30 Multi Laser Platform Comparison Study for LASIK Unknown status NCT00770094 Phase 4
31 Subconjunctival Bevacizumab to Prevent Bleb Failure After Glaucoma Filtration Surgery Unknown status NCT00468429 Phase 4
32 AMO's Tecnis™ Multifocal Intraocular Lenses (Tecnis MF), Alcon's ReStor Multifocal IOL Unknown status NCT01278420 Phase 4
33 A Prospective Safety and Effectiveness Study of a New High Repetition Rate Excimer Laser Using LASIK for the Correction of Ammetropia and Presbyopia Unknown status NCT02112968 Phase 4
34 Efficacy and Safety of Three Different Latanoprost 0,005% Eyedrops in Subjects Affected by Primary Open Angle Glaucoma Unknown status NCT01580254 Phase 4
35 Clinical Investigation of the Bi Flex M Multifocal IOL Unknown status NCT02338882 Phase 4
36 Ologen (OculusGen)-Glaucoma MMC Control Trial in India Unknown status NCT00449098 Phase 4
37 Clinical Evaluation of Toric Intraocular Lens Made by Aurolab Unknown status NCT01396616 Phase 4
38 The Impact of Topical Prostaglandins on the Biomechanical Properties of the Cornea in Patients With Open Angle Glaucoma Unknown status NCT02388360 Phase 4
39 Aqueous Absorption and Pharmacokinetics of Besivance Versus VIGAMOX in Patients Undergoing Phacoemulsification Unknown status NCT01296191 Phase 4
40 Saline Injection - Assisted Anesthesia in Eyelid Surgery Unknown status NCT01239498 Phase 4
41 Study of Myopia Prevention in Children With Low Concentration of Atropine Unknown status NCT00541177 Phase 4
42 Choroidal Thickness in Glaucoma Patients and Healthy Controls Unknown status NCT01293474 Phase 4
43 A Study of the Glaukos Trabecular Micro-bypass Stent in Open Angle Glaucoma Subjects 1 Stent Versus 2 Unknown status NCT00326079 Phase 4
44 Evaluation of Clinical Outcomes Following Implantation of a Sub-2mm Hydrophilic MICS Intraocular Lens Unknown status NCT01615861 Phase 4
45 A Comparison of Prophylactic Antibacterial Efficacy of Besivance vs. VIGAMOX Prior to Cataract Surgery Unknown status NCT01296542 Phase 4
46 Adjunctive Local Application of Lidocaine During Scleral Buckling Under General Anesthesia Unknown status NCT01417572 Phase 4
47 Micropulse Laser Trabeculoplasty Versus Selective Laser Trabeculoplasty for Treatment of Open Angle Glaucoma Unknown status NCT01956942 Phase 4
48 Comparison of Silicone and Porous Plate Ahmed Glaucoma Valves Unknown status NCT01883856 Phase 4
49 Comparison of the Ahmed Glaucoma Valve FP7 and FP8 in Pediatric Glaucoma Unknown status NCT01494974 Phase 4
50 The Effect of Education on Patient Compliance Unknown status NCT00376974 Phase 4

Search NIH Clinical Center for Ethylmalonic Encephalopathy

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: ethylmalonic encephalopathy

Genetic Tests for Ethylmalonic Encephalopathy

Genetic tests related to Ethylmalonic Encephalopathy:

id Genetic test Affiliating Genes
1 Ethylmalonic Encephalopathy 29 24 ETHE1
2 Abnormality of the Eye 29

Anatomical Context for Ethylmalonic Encephalopathy

MalaCards organs/tissues related to Ethylmalonic Encephalopathy:

39
Eye, Skin, Brain, Liver

Publications for Ethylmalonic Encephalopathy

Articles related to Ethylmalonic Encephalopathy:

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

Variations for Ethylmalonic Encephalopathy

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

66
id 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 Ethylmalonic Encephalopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ETHE1 ETHE1, 1-BP INS, 221A insertion Pathogenic
2 ETHE1 ETHE1, 11-BP DEL, NT440 deletion Pathogenic
3 ETHE1 ETHE1, IVS4DS, G-T, +1 single nucleotide variant Pathogenic
4 ETHE1 ETHE1, EX4DEL deletion Pathogenic
5 ETHE1 NM_014297.4(ETHE1): c.487C> T (p.Arg163Trp) single nucleotide variant Pathogenic rs28940289 GRCh37 Chromosome 19, 44015607: 44015607
6 ETHE1 NM_014297.4(ETHE1): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs119103249 GRCh37 Chromosome 19, 44031327: 44031327
7 ETHE1 ETHE1, 1-BP INS, 604G insertion Pathogenic
8 ETHE1 NM_014297.4(ETHE1): c.554T> G (p.Leu185Arg) single nucleotide variant Pathogenic rs387906987 GRCh37 Chromosome 19, 44012968: 44012968
9 ETHE1 NM_014297.4(ETHE1): c.488G> A (p.Arg163Gln) single nucleotide variant Likely pathogenic rs745656120 GRCh38 Chromosome 19, 43511454: 43511454
10 ETHE1 NC_000019.9: g.(?_44015589)_(44015719_?)del deletion Pathogenic GRCh37 Chromosome 19, 44015589: 44015719

Expression for Ethylmalonic Encephalopathy

Search GEO for disease gene expression data for Ethylmalonic Encephalopathy.

Pathways for Ethylmalonic Encephalopathy

GO Terms for Ethylmalonic Encephalopathy

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

id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 8.8 NDP SDHA TSHR

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

id Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 8.96 ACADS SDHA
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 8.62 ACADS SDHA

Sources for Ethylmalonic Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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