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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Recurrent Metabolic Crises 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
For additional species annotation, visit the Alliance of Genome Resources.


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Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a42 solute carrier family 25, member 42 ISO ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION OMIM
ClinVar
PMID:25741868, PMID:26541337, PMID:29327420, PMID:29923093, PMID:30237576 NCBI chr16:20,962,144...21,000,191
Ensembl chr16:20,962,227...20,985,225
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        neurodegenerative disease 3201
          Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 505
                Recurrent Metabolic Crises 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.