Literature DB >> 10215551

Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes.

K E Meyers1, P Kaplan, B S Kaplan.   

Abstract

We describe a patient with microcephaly, developmental delay, and nephrotic syndrome who had normal renal function and normal brain imaging studies. She does not have the Galloway-Mowat syndrome. The concurrence of nephrotic syndrome with microcephaly and developmental delay may be coincidental, or may reflect one of at least three syndromes: Galloway-Mowat, a second syndrome of microcephaly, nephrotic syndrome and developmental delay (MNSDD), and a third syndrome of microcephaly, developmental delay, and spondylorhizomelic short stature.

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Mesh:

Year:  1999        PMID: 10215551

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  12 in total

1.  Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome.

Authors:  Sriram Krishnamurthy; N G Rajesh; Ananthakrishnan Ramesh; Martin Zenker
Journal:  Indian J Pediatr       Date:  2011-12-03       Impact factor: 1.967

2.  Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1).

Authors:  Hanne Laakkonen; Tuula Lönnqvist; Johanna Uusimaa; Erik Qvist; Leena Valanne; Matti Nuutinen; Marja Ala-Houhala; Kari Majamaa; Hannu Jalanko; Christer Holmberg
Journal:  Pediatr Nephrol       Date:  2005-12-17       Impact factor: 3.714

3.  Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

Authors:  Estelle Colin; Evelyne Huynh Cong; Géraldine Mollet; Agnès Guichet; Olivier Gribouval; Christelle Arrondel; Olivia Boyer; Laurent Daniel; Marie-Claire Gubler; Zelal Ekinci; Michel Tsimaratos; Brigitte Chabrol; Nathalie Boddaert; Alain Verloes; Arnaud Chevrollier; Naig Gueguen; Valérie Desquiret-Dumas; Marc Ferré; Vincent Procaccio; Laurence Richard; Benoit Funalot; Anne Moncla; Dominique Bonneau; Corinne Antignac
Journal:  Am J Hum Genet       Date:  2014-11-13       Impact factor: 11.025

4.  Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.

Authors:  Daniela A Braun; Shirlee Shril; Aditi Sinha; Ronen Schneider; Weizhen Tan; Shazia Ashraf; Tobias Hermle; Tilman Jobst-Schwan; Eugen Widmeier; Amar J Majmundar; Ankana Daga; Jillian K Warejko; Makiko Nakayama; David Schapiro; Jing Chen; Merlin Airik; Jia Rao; Johanna Magdalena Schmidt; Charlotte A Hoogstraten; Hannah Hugo; Jitendra Meena; Monkol Lek; Kristen M Laricchia; Arvind Bagga; Friedhelm Hildebrandt
Journal:  Am J Med Genet A       Date:  2018-08-06       Impact factor: 2.802

5.  Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.

Authors:  Andreas Dietrich; Verena Matejas; Martin Bitzan; Seema Hashmi; Cathy Kiraly-Borri; Shuan-Pei Lin; Eva Mildenberger; Bernd Hoppe; Lars Palm; Takashi Shiihara; Jens-Oliver Steiss; Jeng-Daw Tsai; Udo Vester; Stefanie Weber; Elke Wühl; Kristina Zepf; Martin Zenker
Journal:  Pediatr Nephrol       Date:  2008-07-02       Impact factor: 3.714

6.  Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Authors:  Rasim O Rosti; Esra Dikoglu; Maha S Zaki; Ghada Abdel-Salam; Nawal Makhseed; Jordan C Sese; Damir Musaev; Basak Rosti; Mary J Harbert; Marilyn C Jones; Keith K Vaux; Joseph G Gleeson
Journal:  Am J Med Genet A       Date:  2016-01-05       Impact factor: 2.802

7.  Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

Authors:  Robert N Jinks; Erik G Puffenberger; Emma Baple; Brian Harding; Peter Crino; Agnes B Fogo; Olivia Wenger; Baozhong Xin; Alanna E Koehler; Madeleine H McGlincy; Margaret M Provencher; Jeffrey D Smith; Linh Tran; Saeed Al Turki; Barry A Chioza; Harold Cross; Gaurav V Harlalka; Matthew E Hurles; Reza Maroofian; Adam D Heaps; Mary C Morton; Lisa Stempak; Friedhelm Hildebrandt; Carolin E Sadowski; Joshua Zaritsky; Kenneth Campellone; D Holmes Morton; Heng Wang; Andrew Crosby; Kevin A Strauss
Journal:  Brain       Date:  2015-06-11       Impact factor: 13.501

8.  Early onset nephrotic syndrome with dysmorphic facies and microcephaly.

Authors:  Muhammed Mubarak; Ali Lanewala; Seema Hashmi
Journal:  J Nephropathol       Date:  2015-07-01

9.  Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome.

Authors:  Cengiz Zeybek; Gokalp Basbozkurt; Salih Hamcan; Ayhan Ozcan; Davut Gul; Faysal Gok
Journal:  Case Rep Nephrol       Date:  2016-06-14

10.  Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report.

Authors:  Majid Malaki; Mandana Rafeey
Journal:  Middle East J Dig Dis       Date:  2012-01
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