Hypercholanemia, familial 1
- Synonyms
- BAAT-Related Familial Hypercholanemia
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (32 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Decreased circulating vitamin K concentration
Decreased circulating vitamin K concentration
- MedGen UID: 1684852
- Concept ID: C5139061
- Finding: Finding
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
- Decreased circulating vitamin K concentration
- Abnormality of the digestive system
- Fat malabsorption
Fat malabsorption
- MedGen UID: 108215
- Concept ID: C0554103
- Finding: Pathologic Function
Abnormality of the digestive system
- Steatorrhea
Steatorrhea
- MedGen UID: 20948
- Concept ID: C0038238
- Finding: Finding
Abnormality of the digestive system
- Fat malabsorption
- Abnormality of the integument
- Pruritus
Pruritus
- MedGen UID: 19534
- Concept ID: C0033774
- Finding: Sign or Symptom
Abnormality of the integument
- Pruritus
- Abnormality of the musculoskeletal system
- Rickets
Rickets
- MedGen UID: 48470
- Concept ID: C0035579
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Rickets
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.