eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ethylmalonic encephalopathy | ||||
| Disease ID | 988 |
|---|---|
| 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:10) 25932 | CLIC4 | 3.09 | DISEASES 84701 | COX4I2 | 3.329 | DISEASES 1431 | CS | 2.539 | DISEASES 1491 | CTH | 2.318 | DISEASES 4151 | MB | 1.231 | DISEASES 4512 | MT-CO1 | 2.021 | DISEASES 4513 | MT-CO2 | 2.451 | DISEASES 1468 | SLC25A10 | 4.294 | DISEASES 29110 | TBK1 | 2.323 | DISEASES 23038 | WDTC1 | 2.216 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) ETHE1 | 19q13.31 |
| Disease ID | 988 |
|---|---|
| Disease | ethylmalonic encephalopathy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 988 |
|---|---|
| Disease | ethylmalonic encephalopathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 988 |
|---|---|
| Disease | ethylmalonic encephalopathy |
| Case | (Waiting for update.) |