steroid dehydrogenase deficiency-dental anomalies syndrome
MONDO:0017904
Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Lyngstadaas syndrome
Lyngstadaas syndrome, also known as severe dental aberrations in familial steroid dehydrogenase deficiency, is a rare autosomal recessive liver disease involving an enzyme (steroid dehydrogenase) deficiency and dental anomalies. The disease is named after the Norwegian professor Ståle Petter Lyngstadaas.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.