Renal Agenesis in Kallmann Syndrome: A Network Approach

Nili Tickotsky, Moti Moskovitz

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


Kallmann syndrome (KS) is defined by the combination of isolated hypogonadotrophic hypogonadism (IHH) and anosmia, with renal agenesis occurring in 30% of KS cases with KAL1 gene mutations. Unlike other KS-related disorders, renal agenesis cannot be directly associated with mutations in the KAL1 gene. We hypothesized that protein interaction networks may suggest a link between genes currently known to be associated with KS on the one hand and those associated with renal agenesis on the other hand. We created a STRING protein interaction network from KS-related genes and renal-agenesis-associated genes and analyzed it with Cytoscape 3.0.1 network software. The STRING protein interaction network provided a conceptual framework for current knowledge on the subject of renal morphogenesis in Kallmann syndrome. In addition, STRING and Cytoscape 3.0.1 software identified new potential KS renal-aplasia-associated genes (PAX2, BMP4, and SOX10). The use of protein-protein interaction networks and network analysis tools provided interesting insights and possible directions for future studies on the subject of renal aplasia in Kallmann syndrome.

Original languageEnglish
Pages (from-to)424-433
Number of pages10
JournalAnnals of Human Genetics
Issue number6
StatePublished - 1 Nov 2014

Bibliographical note

Publisher Copyright:
© 2014 John Wiley & Sons Ltd/University College London.


  • Anosmin-1
  • Kallmann syndrome
  • Protein-protein interactions
  • Renal agenesis


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