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Diseases

Genetic and Rare Diseases Information Center (GARD)

Galloway-Mowat syndrome


Other Names for this Disease
  • Galloway Mowat syndrome
  • Galloway syndrome
  • Microcephaly nephrosis syndrome
  • Nephrosis neuronal dysmigration syndrome
  • Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities.[1][2] Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability.[2][3] Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene and is inherited in an autosomal recessive manner. Other, unknown genes may also be responsible.[4] Affected children often do not survive beyond the first few years of life.[3] Treatment is aimed at the specific signs and symptoms present.[1]
Last updated: 2/29/2016

References

  1. Galloway-Mowat Syndrome. NORD. 2002; http://rarediseases.org/rare-diseases/galloway-mowat-syndrome/.
  2. Cassandra L. Kniffin. GALLOWAY-MOWAT SYNDROME; GAMOS. OMIM. August 26, 2015; http://www.omim.org/entry/251300.
  3. Pezzella M., et. al. Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. Seizure. March, 2010; 19(2):132-135.
  4. Jinks RN, et. al. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain. August, 2015; 138(Pt 8):2173-2190.
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Basic Information

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Galloway-Mowat syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Galloway Mowat syndrome
  • Galloway syndrome
  • Microcephaly nephrosis syndrome
  • Nephrosis neuronal dysmigration syndrome
  • Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.