Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Renal-hepatic-pancreatic dysplasia 1

Renal-hepatic-pancreatic dysplasia 1 is an autosomal recessive ciliopathy caused by mutations of the NPHP3 gene. This disease's commonly used acronyme is RHPD. It is characteerized by malformations in kidneys, liver, and pancreas.

Systematic

Ivemark syndrome
Renal-hepatic-pancreatic dysplasia 1
NPHP3
Renal-hepatic-pancreatic dysplasia 2

References:

1.

Bernstein J et al. (1987) Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered.

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2.

OMIM.ORG article

Omim 208540 [^]
Update: April 29, 2019