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GTR Home > Conditions/Phenotypes > Congenital lipoid adrenal hyperplasia due to STAR deficency

Congenital lipoid adrenal hyperplasia due to STAR deficency

Synonyms
ADRENAL HYPERPLASIA I; Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia; Cholesterol monooxygenase (side-chain cleaving) deficiency; Congenital lipoid adrenal hyperplasia; Lipoid CAH; Lipoid adrenal hyperplasia; Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy (summary by Lin et al., 1991 and Bose et al., 1996). [from OMIM]

Available tests

46 tests are in the database for this condition.

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Clinical tests (46 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: STARD1, STAR
    Summary: steroidogenic acute regulatory protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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