Polycystic liver disease 3 with or without kidney cysts

Summary

PCLD3 is an autosomal dominant disorder characterized by the development of multiple liver cysts that usually becomes apparent in adulthood. Liver cysts range in size and number, and the clinical severity is variable. Most patients also have a few renal cysts, but they do not result in significant renal disease or renal failure (summary by Besse et al., 2017). For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050). [from OMIM]

Available tests

19 tests are in the database for this condition.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

ALG8
90 tests
Also known as: CDG1H, PCLD3, ALG8
Summary: ALG8 alpha-1,3-glucosyltransferase

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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Clinical resources

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Consumer resources

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