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ONTOLOGY REPORT - ANNOTATIONS


Term:Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression
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Accession:DOID:9007390 term browser browse the term
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)
Synonyms:exact_synonym: MECREN
 primary_id: OMIM:618416
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Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a42 solute carrier family 25, member 42 JBrowse link 16 20,962,144 21,000,191 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        neurodegenerative disease 2691
          Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 1
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Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            Metabolic Brain Diseases 471
              Metabolic Brain Diseases, Inborn 406
                Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.