Renal–hepatic–pancreatic dysplasia syndrome

Also known as: Ivemark II syndrome; RHPD

Renal dysplasia with hepatic fibrosis and pancreatic cysts.

Medical specialty: Nephrology
Subspecialty: Nephrology / Hereditary kidney disease
Sex & age distribution: Male: affected; Female: affected; Children: yes, prenatal
Gene(s) involved: NPHP3

Etiology & mechanism

NPHP3 variants.

Gene(s) involved (1)

NPHP3

Symptoms & signs (5)

hepatic fibrosisoligohydramniospancreatic cystsrenal dysplasiasitus inversus

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.