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Term ID: | 11229 |
Name: | ethylmalonic encephalopathy |
Definition: | Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities. |
Alternative IDs: | 602473 |
ParentIDs: | |
TreeNumbers: | |
Synonyms: | EE; eme; encephalopathy, ethylmalonic; encephalopathy, ethylmalonic; EE; encephalopathy, petechiae, and ethylmalonic aciduria; EPEMA syndrome; syndrome of encephalopathy, petechiae, and ethylmalonic aciduria |
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Reference: |
MedGen:
MeSH:
OMIM: 602473; MSeqDR : 00573; Genes: ETHE1; | Could not execute query 3 SELECT t5.Variation_Name, t5.GeneID, t5.GeneSymbol, t5.ClinicalSignificance, t5.dbSNP, t5.RCVaccession, t5.TestedInGTR, t5.PhenotypeIDs, t5.Chromosome, t5.Start, t5.Stop, t5.HGVS_c, t5.HGVS_p, t5.HGVS_g, t5.OtherIDs, t5.Diseases as Disease_ClinVar
FROM gb_exome.clinvar_variation_v2_latest as t5
WHERE Assembly ='GRCh37' AND (t5.PhenotypeIDs like '%:602473%' OR t5.otherIDs like '%OMIM Allelic Variant:602473%' )
ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start; |