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Pediatric Disease Annotations & Medicines



   ethylmalonic encephalopathy
  

Disease ID 569
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)
ETHE1  |  23474  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
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
Disease ethylmalonic encephalopathy
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:1)
Disease ID 569
Disease ethylmalonic encephalopathy
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C0497552  |  nervous system malformations
C0155765  |  microangiopathy
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining 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
rs119103249NA23474ETHE1umls:C1865349CLINVARNA0.563528744NAETHE11943527175CA
rs1829835061859387023474ETHE1umls:C1865349UNIPROTIdentification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.0.5635287442008ETHE11943526577AG
rs289402891859387023474ETHE1umls:C1865349UNIPROTIdentification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.0.5635287442008ETHE11943511455GA
rs28940289NA23474ETHE1umls:C1865349CLINVARNA0.563528744NAETHE11943511455GA
rs289402892519816223474ETHE1umls:C1865349BeFreeEthylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.0.5635287442014ETHE11943511455GA
rs387906987NA23474ETHE1umls:C1865349CLINVARNA0.563528744NAETHE11943508816AC
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.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)