ethylmalonic encephalopathy |
Disease ID | 569 |
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Disease | ethylmalonic encephalopathy |
Definition | Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. Patients affected with EE are typically identified shortly after birth, with symptoms including diarrhea, petechiae and seizures.[1][2] The genetic defect in EE is thought to involve an impairment in the degradation of sulfide intermediates in the body. Hydrogen sulfide then builds up to toxic levels.[3] EE was initially described in 1994.[4] Most cases of EE have been described in individuals of Mediterranean or Arabic origin.[3] - Wikipedia Reference: https://en.wikipedia.org/wiki/ethylmalonic encephalopathy |
Synonym | encephalopathy, ethylmalonic encephalopathy, petechiae, and ethylmalonic aciduria epema syndrome ethylmalonic encephalopathy (disorder) syndrome of encephalopathy, petechiae, and ethylmalonic aciduria |
Orphanet | |
OMIM | |
UMLS | C1865349 |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:26) 10928 | RALBP1 | DISEASES 3945 | LDHB | DISEASES 35 | ACADS | DISEASES 7263 | TST | DISEASES 1890 | TYMP | DISEASES 1327 | COX4I1 | DISEASES 58472 | SQRDL | DISEASES 10063 | COX17 | DISEASES 23531 | MMD | DISEASES 3948 | LDHC | DISEASES 23576 | DDAH1 | DISEASES 9131 | AIFM1 | DISEASES 23474 | ETHE1 | DISEASES 84309 | NUDT16L1 | DISEASES 475 | ATOX1 | DISEASES 9377 | COX5A | DISEASES 29110 | TBK1 | DISEASES 1431 | CS | DISEASES 1468 | SLC25A10 | DISEASES 4151 | MB | DISEASES 4512 | MT-CO1 | DISEASES 4513 | MT-CO2 | DISEASES 23038 | WDTC1 | DISEASES 1491 | CTH | DISEASES 25932 | CLIC4 | DISEASES 84701 | COX4I2 | DISEASES |
Locus | Symbol | Locus(Total Locus:1) ETHE1 | 19q13.31 |
Disease ID | 569 |
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Disease | ethylmalonic encephalopathy |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
Disease ID | 569 |
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Disease | ethylmalonic encephalopathy |
Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:6) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs119103249 | NA | 23474 | ETHE1 | umls:C1865349 | CLINVAR | NA | 0.563528744 | NA | ETHE1 | 19 | 43527175 | C | A |
rs182983506 | 18593870 | 23474 | ETHE1 | umls:C1865349 | UNIPROT | Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. | 0.563528744 | 2008 | ETHE1 | 19 | 43526577 | A | G |
rs28940289 | 18593870 | 23474 | ETHE1 | umls:C1865349 | UNIPROT | Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. | 0.563528744 | 2008 | ETHE1 | 19 | 43511455 | G | A |
rs28940289 | NA | 23474 | ETHE1 | umls:C1865349 | CLINVAR | NA | 0.563528744 | NA | ETHE1 | 19 | 43511455 | G | A |
rs28940289 | 25198162 | 23474 | ETHE1 | umls:C1865349 | BeFree | Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre. | 0.563528744 | 2014 | ETHE1 | 19 | 43511455 | G | A |
rs387906987 | NA | 23474 | ETHE1 | umls:C1865349 | CLINVAR | NA | 0.563528744 | NA | ETHE1 | 19 | 43508816 | A | C |
GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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