Norum disease
- Synonyms
- Familial lecithin cholesterol acyltransferase deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (9 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Hemolytic anemia
Hemolytic anemia
- MedGen UID: 1916
- Concept ID: C0002878
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Normochromic anemia
Normochromic anemia
- MedGen UID: 66731
- Concept ID: C0235983
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Hemolytic anemia
- Abnormality of metabolism/homeostasis
- Decreased HDL cholesterol concentration
Decreased HDL cholesterol concentration
- MedGen UID: 57731
- Concept ID: C0151691
- Finding: Finding
Abnormality of metabolism/homeostasis
- Decreased lecithin cholesterol acyl transferase level
Decreased lecithin cholesterol acyl transferase level
- MedGen UID: 1378463
- Concept ID: C4476773
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypertriglyceridemia
Hypertriglyceridemia
- MedGen UID: 167238
- Concept ID: C0813230
- Finding: Finding
Abnormality of metabolism/homeostasis
- Decreased HDL cholesterol concentration
- Abnormality of the cardiovascular system
- Foam cells
Foam cells
- MedGen UID: 924121
- Concept ID: C4281786
- Finding: Finding
Abnormality of the cardiovascular system
- Foam cells
- Abnormality of the eye
- Arcus senilis
Arcus senilis
- MedGen UID: 8179
- Concept ID: C0003742
- Finding: Finding
Abnormality of the eye
- Arcus senilis
- Abnormality of the genitourinary system
- Proteinuria
Proteinuria
- MedGen UID: 10976
- Concept ID: C0033687
- Finding: Finding
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Proteinuria
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