Polycystic liver disease 4 with or without kidney cysts

Summary

PCLD4 is an autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure (summary by Cnossen et al., 2014). For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050). [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

LRP5
215 tests
Also known as: BMND1, EVR1, EVR4, HBM, LR3, LRP-5, LRP-7, LRP7, OPPG, OPS, OPTA1, PCLD4, VBCH2, LRP5
Summary: LDL receptor related protein 5

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the digestive system
- Hepatic cysts
  Hepatic cysts
  - MedGen UID: 82761
  - Concept ID: C0267834
  - Finding: Disease or Syndrome
  Abnormality of the digestive system
  See: Feature record | Search on this feature
Abnormality of the genitourinary system
- Renal cyst
  Renal cyst
  - MedGen UID: 854361
  - Concept ID: C3887499
  - Finding: Disease or Syndrome
  Abnormality of the genitourinary system
  See: Feature record | Search on this feature

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