Case Presentation A 26-month-old boy presented to our hospital with periorbital edema and ascites. The patient was being followed up at another center for nystagmus and microcephaly. He was the only child of a nonconsanguineous healthy couple. [hindawi.com]

Treatment-resistant nephrotic syndrome generally presents in the third month of life, but albuminuria may be present from birth 1. Etiology Five monogenic mutations have been implicated in the pathogenesis of Galloway-Mowat syndrome. [radiopaedia.org]

Case presentation We present the clinical and genetic characteristics of two unrelated infants with clinical suspicion of GAMOS who were born from consanguineous parents. [bmcnephrol.biomedcentral.com]

Here, we show that WDR73 was present in the brain and kidney and was located diffusely in the cytoplasm during interphase but relocalized to spindle poles and astral microtubules during mitosis. [okina.univ-angers.fr]

Severe intellectual disability is often present. [rarediseases.org]

• Developmental Delay

  Abstract The combination of central nervous system abnormalities and renal impairment is a notable characteristic of Galloway-Mowat syndrome (GAMOS), a disease which often accompanies microcephaly, developmental delay, and nephrotic syndrome. [koreascience.or.kr]

  This case report describes Galloway-Mowat syndrome in a young boy suffering from congenital microcephaly, developmental delay, seizures and various dysmorphic features in whom nephritic syndrome became apparent at 5 years of age [vlibrary.emro.who.int]

  The neurological features include microcephaly, developmental delay, seizures, hypotonia, abnormal sulci and gyri, and abnormal cerebellum. [jcnonweb.com]

  delay: the Galloway Mowat Syndrome. 61 Krishnamurthy S...Zenker M 22144119 2012 35 Galloway-Mowat syndrome: neurologic features in two sibling pairs. 61 Ekstrand JJ...Stafstrom CE 22759691 2012 36 Diffuse mesangial sclerosis - Report of two cases. 61 [malacards.org]

• Disability

  Altogether, WDR73 mutations cause Galloway-Mowat syndrome in a particular subset of individuals presenting with late-onset nephrotic syndrome, postnatal microcephaly, severe intellectual disability, and homogenous brain MRI features. [okina.univ-angers.fr]

  Severe intellectual disability is often present. [rarediseases.org]

• Epilepsy

  […] resonance imaging findings. 61 Chen CP...Wang W 21791310 2011 39 Neuropathological homology in true Galloway-Mowat syndrome. 61 Keith J...Robitaille Y 21233460 2011 40 Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy [malacards.org]

  Our patient did not have epilepsy but had cortical (especially frontal) atrophy, widespread hypomyelination, and optic atrophy. [hindawi.com]

  Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review literature. [rarediseases.org]

• Collapse

  Only two cases of collapsing glomerulopathy have been reported in GMS [8, 17]. Severe collapsing glomerulopathy was present in both patients and progressed rapidly to death. [hindawi.com]

  […] caused by a specific OSGEP variant. 61 Yang Y...Li DZ 31564459 2019 18 Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. 61 Arrondel C...Mollet G 31481669 2019 19 WDR73-related galloway mowat syndrome with collapsing [malacards.org]

  Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome. Zeybek C, Basbozkurt G, Hamcan S, Ozcan A, Gul D, Gok F. Zeybek C, et al. Case Rep Nephrol. 2016;2016:4386291. doi: 10.1155/2016/4386291. Epub 2016 Jun 14. Case Rep Nephrol. 2016. [pubmed.ncbi.nlm.nih.gov]

  (Asn27Lys) affects a totally conserved amino acid N27 in OSGEP orthologs. c Silver-stained renal biopsy from patient 1 showed glomerular collapse with mesangial matrix increase, atrophic tubules, and interstitial fibrosis on light microscopy. d CMRI performed [bmcnephrol.biomedcentral.com]

• Visual Impairment

  Other features include, but are not limited to, hiatal hernia, seizures, dystonia, generalized hypotonia, and visual impairment. These features are variable among patients, and have overlapping presentations with other disorders. [preventiongenetics.com]

  Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements [wikidoc.org]

• Visual Impairment

  Other features include, but are not limited to, hiatal hernia, seizures, dystonia, generalized hypotonia, and visual impairment. These features are variable among patients, and have overlapping presentations with other disorders. [preventiongenetics.com]

  Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements [wikidoc.org]

• Suggestibility

  Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3]. [wikidoc.org]

  Turnaround Time 18 days on average Clinical Features and Genetics Indications for Test Candidates for this test are patients with symptoms suggestive of Galloway-Mowat syndrome (GAMOS). [preventiongenetics.com]

  These phenotypes were suggestive of GAMOS. Next generation sequencing was performed for genetic analysis and revealed novel compound heterozygous variants in the WDR4 gene: c.494G>A (p.Arg165Gln) and c.540C>G (p.Ile180Met). [koreascience.or.kr]

  The structure and cellular characterization of GON7 suggest its involvement in the cellular stability and quaternary arrangement of the KEOPS complex. Voir la publication Toutes les publications [institutimagine.org]

  These data suggest that WDR73 plays a crucial role in the maintenance of cell architecture and cell survival. [okina.univ-angers.fr]

• Renal Insufficiency

  One of the affected siblings presented with nephrotic syndrome at the age of 5 years, rapidly developed chronic renal insufficiency, and died after a month, while the other had no renal symptoms at the age of 7 years [3]. [bmcnephrol.biomedcentral.com]

• Seizure

  This case report describes Galloway-Mowat syndrome in a young boy suffering from congenital microcephaly, developmental delay, seizures and various dysmorphic features in whom nephritic syndrome became apparent at 5 years of age [vlibrary.emro.who.int]

  Therapy with anti-seizure (anticonvulsant) drugs may be prescribed for affected individuals who experience seizures to help prevent, reduce, or control seizures. [rarediseases.org]

• Dystonia

  Other features include, but are not limited to, hiatal hernia, seizures, dystonia, generalized hypotonia, and visual impairment. These features are variable among patients, and have overlapping presentations with other disorders. [preventiongenetics.com]

  Seizures of different types that are difficult to control and dystonia and choreiform movements have been frequently observed. [rarediseases.org]

• Encephalopathy

  […] ultrasound and perinatal magnetic resonance imaging findings. 61 Chen CP...Wang W 21791310 2011 39 Neuropathological homology in true Galloway-Mowat syndrome. 61 Keith J...Robitaille Y 21233460 2011 40 Galloway-Mowat syndrome: an early-onset progressive encephalopathy [malacards.org]

  Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review literature. [rarediseases.org]

• Cerebellar Ataxia

  […] recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family. 6 Delague V...Claustres M 12030328 [malacards.org]

• Ataxia

  is caused by a mutant zinc-finger protein, ZNF592. 6 Nicolas E...Delague V 20531441 2010 8 A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps [malacards.org]

Clinical Testing and Workup In affected infants, symptoms associated with nephrotic syndrome may become apparent within days, weeks, months, or in some cases, years after birth. [rarediseases.org]

• Candida

  However, after 2 months in the hospital, the patient died of Candida septicemia despite appropriate supportive care and antimycotic treatment. Next-generation DNA sequencing found no evidence of the WDR73 mutation. 3. [hindawi.com]

Treatment and prognosis There is no treatment for Galloway-Mowat syndrome 1. Affected individuals may survive for one year 1. References Promoted articles (advertising) [radiopaedia.org]

OR Surgery is not the first-line treatment option for patients with [disease name]. [wikidoc.org]

Treatment with corticosteroids and/or immunosuppressive drugs has not been effective for nephrotic syndrome associated with Galloway-Mowat syndrome. [rarediseases.org]

Treatment and prognosis There is no treatment for Galloway-Mowat syndrome 1. Affected individuals may survive for one year 1. References Promoted articles (advertising) [radiopaedia.org]

OR Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%. [wikidoc.org]

Parents should talk to the physician and medical team about their child’s specific case, associated symptoms and overall prognosis. [rarediseases.org]

Etiology Five monogenic mutations have been implicated in the pathogenesis of Galloway-Mowat syndrome. WD repeat-containing protein 73 (WDR73), which is a critical scaffold component of protein-complex assembly, was the first to be identified 1,2. [radiopaedia.org]

However, the genetic etiology of more than three-quarters of patients with a clinical diagnosis of GAMOS remains elusive, suggesting that additional causative genes remain to be identified. [bmcnephrol.biomedcentral.com]

Epidemiology and Demographics Galloway-Mowat syndrome affects males and females in equal numbers. More than 70 cases have been reported in the medical literature. [wikidoc.org]

OR The pathophysiology of [disease/malignancy] depends on the histological subtype. Causes In 2014, Galloway-Mowat syndrome was shown to be caused by alterations (mutations) in the WDR73 gene in a subset of cases. [wikidoc.org]

In 1994, Cohen and Turner examined kidney tissues of the patients using antibodies against glomerular basal membrane, tubular basal membrane, type IV collagen, and laminin along with different stains in an attempt to understand the pathophysiology of [hindawi.com]

Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3]. Secondary Prevention There are no established measures for the secondary prevention of [disease name]. [wikidoc.org]

Therapy with anti-seizure (anticonvulsant) drugs may be prescribed for affected individuals who experience seizures to help prevent, reduce, or control seizures. [rarediseases.org]