Disease: Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1

Name Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1

Synonyms CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY

Classification genetic, metabolism

Phenotypes Autosomal recessive inheritance; Basal ganglia gliosis; Congenital onset; Death in infancy; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased serum lactate; Lactic acidosis; Limited extraocular movements; Muscular hypotonia; Neuronal loss in basal ganglia; Neuronal loss in central nervous system; Respiratory distress

Associated Genes SCO2 (Withdrawn symbols: MYP6, SCO1L )

Mouse Orthologs Sco2

Source OMIM:604377 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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