Disease: Corticosterone Methyloxidase Type I Deficiency

Name Corticosterone Methyloxidase Type I Deficiency

Synonyms 18-HYDROXYLASE DEFICIENCY , ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE , ALDOSTERONE DEFICIENCY I , CMO I DEFICIENCY , HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1; FHHA1A , STEROID 18-HYDROXYLASE DEFICIENCY

Classification endocrine, genetic

Phenotypes Autosomal recessive inheritance; Decreased circulating aldosterone level; Dehydration; Failure to thrive; Feeding difficulties in infancy; Growth delay; Hyperkalemia; Hyponatremia; Hypotension; Increased circulating renin level; Neonatal onset; Recurrent fever; Renal salt wasting; Vomiting

Associated Genes CYP11B2 (Withdrawn symbols: ALDOS, CPN2, CYP11B, CYP11BL, P-450C18, P450aldo )

Mouse Orthologs Cyp11b1 (Withdrawn symbols: AA389061, Cyp11b, Cyp11b-1 )

Source OMIM:203400 (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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