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GTR Home > Conditions/Phenotypes > Arthrogryposis, renal dysfunction, and cholestasis 2

Arthrogryposis, renal dysfunction, and cholestasis 2

Synonyms
VIPAS39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome

Summary

Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085). [from OMIM]

Available tests

53 tests are in the database for this condition.

Clinical tests (53 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C14orf133, SPE-39, SPE39, VIPAR, VPS16B, hSPE-39, VIPAS39
    Summary: VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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