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GENE - TERM ANNOTATION REPORT

RGD ID: 1592346
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc25a42
Name: solute carrier family 25, member 42
Acc ID: DOID:9007390
Term: Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression
Definition: Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia. There is significant phenotypic heterogeneity, even among patients with the same mutation. MECREN is caused by homozygous mutation in the SLC25A42 gene on chromosome 19p13. (OMIM)
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Slc25a42 ISOSLC25A42 (Homo sapiens)7240710OMIM  
Slc25a42 ISOSLC25A42 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regressionPMID:25741868 PMID:26541337 PMID:29327420 PMID:29923093 PMID:30237576
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