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GENATLAS PHENOTYPE
last update : 26-06-2019
Symbol RHPD2
Location 17q11.2
Name renal-hepatic-pancreatic dysplasia 2
Corresponding gene NEK8
Main clinical features
  • multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy
  • cystic/dysplastic changes in the kidney, liver, and pancreas, situs inversus
  • also extra renal malformations, including encephalocele, polydactyly and heart malformations, consistent with ciliopathy phenotypes,
    • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    endocrinology
    digestive tract/liver and annex
    neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function missense and loss-of-function mutations differentially affect the regulation of the main Hippo signaling effector, YAP1, as well as the expression of its target genes in patient fibroblasts and renal cells (PMID: 26967905)
    Remark(s) . NEK8 mutations cause major organ developmental defects due to altered ciliogenesis and cell differentiation/proliferation through deregulation of the Hippo pathway (PMID: 26967905))