Hypercholanemia, familial, 2
- Synonyms
- NTCP deficiency
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Decreased circulating vitamin D concentration
Decreased circulating vitamin D concentration
- MedGen UID: 12114
- Concept ID: C0042870
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Increased serum bile acid concentration
Increased serum bile acid concentration
- MedGen UID: 868605
- Concept ID: C4023004
- Finding: Finding
Abnormality of metabolism/homeostasis
- Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia
- MedGen UID: 82786
- Concept ID: C0268306
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Decreased circulating vitamin D concentration
- Abnormality of the digestive system
- Prolonged neonatal jaundice
Prolonged neonatal jaundice
- MedGen UID: 347108
- Concept ID: C1859236
- Finding: Finding
Abnormality of the digestive system
- Prolonged neonatal jaundice
- Abnormality of the musculoskeletal system
- Osteopenia
Osteopenia
- MedGen UID: 18222
- Concept ID: C0029453
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Osteopenia
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