Norum disease
Therapeutic area
Metabolic Disease
Rare disease
Yes
- Definition
- A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.
- Genetic basis
- Yes
- Non-human condition
- No
- Rare disease
- Yes
- Listing at source
- Listed
- Condition name
- Norum disease
- Therapeutic area
- Metabolic Disease
- Norum disease
- complete LCAT deficiency
- FLD
- lecithin acyltransferase deficiency
- lecithin:cholesterol acyltransferase deficiency
- All therapeutic areas
- Metabolic Disease
Sources for recorded values
- Severity
- Severe
- Genetic
- Hereditary
- Inborn Error of Metabolism
Sources for recorded values
- MONDO ID
- MONDO:0009515
- Parent condition
- MONDO:0001822
Related records
Broader conditions (12)
- Disease
- Disease by developmental or physiological process
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Hereditary disease
- Human disease
- Hypoalphalipoproteinemia
- Hypolipoproteinemia
- Inborn errors of metabolism
- Inherited lipid metabolism disorder
- LCAT deficiency
- Metabolic disease
Trials (62)
- A Bioequivalence Study Comparing Methylprednisolone Suspension to Methylprednisolone Tablets Under Fed Conditions
- A Comparative Bioavailability Study of Lisinopril Tablets, 40 mg - Effect of Food Study
- A Comparative Bioavailability/Food Effect Study of Immediate-Release and Extended-Release Tramadol HCl/Acetaminophen Combination Products Following Single-Dose and Multiple-Dose Administration in Healthy Adult Volunteers
- A Study to Compare the Relative Bioavailability of Two Iberdomide (CC-220) Formulations and to Assess The Effect Of Food on the Drug Levels of Iberdomide in Healthy Adult Participants
- A Study to Demonstrate Bioequivalence Between a 12-mg Dose of an Oral Suspension Formulation of Perampanel and a 12-mg Tablet Formulation of Perampanel Under Fasted and Fed Conditions in Healthy Subjects
- A Study to Investigate the Effect of Food on Balcinrenone/Dapagliflozin Pharmacokinetics in Fed and Fasted State and Pharmacokinetics of Balcinrenone When Dosed With a P-gp Inhibitor in Healthy Participants.
- AStudy to Evaluate the Bioavailability of PF 04965842 in Healthy Subjects
- Bioavailability Study of (Buspar) Buspirone HCl Tablets Under Fasting and Fed Conditions
- Bioavailability Study of Ciprofloxacin 1000 mg ER Tablets of Dr. Reddy's Under Non-Fasting Conditions
- Bioavailability Study of Desloratadine 5 mg Tablet of Dr. Reddy's Under Fed Conditions
- Bioavailability Study of Doxycycline Monohydrate Capsules and Monodox Under Fasting and Fed Conditions
- Bioavailability Study of Leflunomide Tablets Under Fed Conditions
- Bioavailability Study of Metronidazole Capsules Under Fed Conditions
- Bioavailability Study of Ondansetron Orally Disintegrating Tablets Under Fed Conditions
- Bioavailability Study of Propranolol Under Fed Conditions
- Bioavailability Study of Torsemide Tablets Under Fed Conditions
- Bioavailability Study of Tramadol/APAP Tablets Under Fed Conditions
- Bioequivalence Study of Amlodipine Besylate/Benazepril HCl 10 mg/40 mg Capsules of Dr. Reddy's Under Fed Conditions
- Bioequivalence Study of Bisoprolol Fumarate Tablet 10 mg Under Fed Condition
- Bioequivalence Study of Cabergoline Tablets and Dostinex Under Fed Conditions
Other linked drugs (1)
- Cholesterol