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]

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]

A 26-month-old boy presented with steroid-resistant nephrotic syndrome associated with neurologic findings, including microcephaly, psychomotor retardation, and nystagmus. [go.gale.com]

(original magnification × 400). c Many granular casts are present with marked tubular ectasia. [ojrd.biomedcentral.com]

Continuous variables are presented as medians (ranges), and categorical variables are presented as percentages. [frontiersin.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]

• 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]

• Angiokeratoma

  Nail-patella syndrome (osteo-onychodysplasia), lipodystropy, Fabry's disease (angiokeratoma corporis diffusum universale), and familial lecithin-cholesterol acyltransferase deficiency, chapter 39. in: Tisher C.C. Brenner B.M. [kidney-international.org]

• Aged Face

  All individuals were found to have an "aged face" comprising peculiar facial dysmorphisms. Arachnodactyly or camptodactyly were noted in all patients. Neurological findings consisted of microcephaly, hypotonia, developmental delay, and seizures. [pesquisa.bvsalud.org]

  All of our patients were born small for gestational age (SGA) at term or near-term (Patient IV, at 36 weeks and 6 days). All individuals were found to have an “aged face” comprising peculiar facial dysmorphisms (Fig. 1). [ojrd.biomedcentral.com]

  One of the features of GAMOS is an “aged face,” including large and floppy ears, micrognathia, hypertelorism, microphthalmia, a narrow or receding forehead, and prominent glabella with a broad nasal bridge, as in patients I and II. [frontiersin.org]

• Suggestibility

  These findings suggest that the KEOPS complex plays an important role during vertebrate embryonic development. [xenbase.org]

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

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

  This finding suggests that GAMOS may occupy a phenotypic spectrum with other microcephalic diseases. Furthermore, WDR4 is an additional example of a gene that encodes a tRNA modifying enzyme and gives rise to GAMOS, if mutated. [ncbi.nlm.nih.gov]

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

• Dystonia

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

  The main clinical manifestations included postnatal microcephaly, a coarse face, severe intellectual disability, seizures, cerebellar ataxia, optic atrophy, and late-onset nephrotic syndrome [4,5,6,7,8]. [ojrd.biomedcentral.com]

• Ataxia

  is caused by a mutant zinc-finger protein, ZNF592. 6 Nicolas E...Delague V 20531441 2010 7 A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps [malacards.org]

  The main clinical manifestations included postnatal microcephaly, a coarse face, severe intellectual disability, seizures, cerebellar ataxia, optic atrophy, and late-onset nephrotic syndrome [4,5,6,7,8]. [ojrd.biomedcentral.com]

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]

• Glycosuria

  Hematuria, glycosuria and renal failure were also present. Renal biopsy and postmortem specimens of two patients were studied. [kidney-international.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 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]

Citation metadata Document controls Main content Abstract : Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome [go.gale.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]

Conclusion: GAMOS3 is a progressive renal-neurological syndrome with a poor prognosis, especially with congenital NS. Microcephaly with dysmorphic features are vital clues to further evaluate renal impairment and brain anomalies. [pubmed.ncbi.nlm.nih.gov]

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]

The etiology of GAMOS has a heterogeneous genetic contribution. Mutations in more than 10 different genes have been reported in GAMOS patients. [xenbase.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]

[…] language development Global developmental delay Intellectual disability Motor delay Motor stereotypy Paroxysmal bursts of laughter Seizure Sleep disturbance Growth abnormality Decreased body weight Fetal growth restriction Growth delay Short stature Etiology [ncbi.nlm.nih.gov]

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]

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]