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 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]

Acronym GAMOS5 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

(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]

• Developmental Delay

  This case report describes GMS in a girl, suffering from developmental delay, stunted growth, and various dysmorphic features, in whom nephrotic syndrome became apparent at adolescent age. [neuro.unboundmedicine.com]

  Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes. Am J Med Genet 1999;82:257-60. [sjkdt.org]

  Definition A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. [uniprot.org]

  Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. [ncbi.nlm.nih.gov]

  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.kr]

• Epilepsy

  […] resonance imaging findings. 61 Chen CP...Wang W 21791310 2011 33 Neuropathological homology in true Galloway-Mowat syndrome. 61 Keith J...Robitaille Y 21233460 2011 34 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]

  […] co-occurrence in infants of renal impairment (i.e., nephrotic syndrome) and central nervous system abnormalities, such as defects of neuronal migration, cerebellar atrophy, hypomyelination, clinically associated with microcephaly, psychomotor delay, severe epilepsy [sjkdt.org]

  A wide spectrum of genetic disorders causing severe childhood epilepsy in Taiwan: a case series of ultrarare genetic cause and novel mutation analysis in a pilot study. [frontiersin.org]

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

• Arachnodactyly

  Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. [uniprot.org]

  Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017). [ncbi.nlm.nih.gov]

  Arachnodactyly or camptodactyly were noted in all patients. Neurological findings consisted of microcephaly, hypotonia, developmental delay, and seizures. Brain imaging studies all showed pachygyria and hypomyelination. [pesquisa.bvsalud.org]

  Skeletal abnormalities such as arachnodactyly or camptodactyly (Fig. 2) were also noted in all patients. Other dysmorphisms included a high arch palate (5/6). [ojrd.biomedcentral.com]

• Asymptomatic

  History and Symptoms The majority of patients with [disease name] are asymptomatic. OR The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. [wikidoc.org]

  Renal presentations range from asymptomatic proteinuria to SRNS. Although early-onset nephrotic syndrome is more common, later onset during childhood has also been reported. [ojrd.biomedcentral.com]

• Visual Impairment

  Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. [uniprot.org]

  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

  Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. [uniprot.org]

  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]

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

  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.kr]

  CONCLUSIONS: Our study suggests that a careful review of the facial features can provide useful clues for an early and accurate diagnosis. [pesquisa.bvsalud.org]

  These data suggest that WDR73 plays a crucial role in the maintenance of cell architecture and cell survival. [ncbi.nlm.nih.gov]

• Psychomotor Retardation

  Coenzyme Q10 was also administered because of the psychomotor retardation. The urine organic acid screening and tandem mass spectrometry results were normal. [hindawi.com]

  The latter results in seizures, mental retardation and developmental inability to perform certain motor skills normal for the chronological age, particularly skills requiring coordination of muscular and mental activity (psychomotor retardation).[2] As [sjkdt.org]

• Narrow Forehead

  Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. [uniprot.org]

  forehead and abnormally shaped skull. [sjkdt.org]

  Physical examination showed some dysmorphic features, including microcephaly, a narrow forehead, large and floppy ears, arachnodactyly and camptodactyly. He showed a developmental delay and failure to thrive. [frontiersin.org]

  Although no facial dysmorphism is seen in some patients, others may exhibit dysmorphic features such as a sloping narrow forehead, low-set large floppy ears, a high palate, abnormally shaped skull, micrognathia, arachnodactyly, and coarse hair [3, 9, [hindawi.com]

  Physical features may include malformations of the head and facial (craniofacial) area including microcephaly, which can be present at birth or develop shortly after birth, an abnormally high, narrow forehead and unusually small jaw bones (micrognathia [rarediseases.org]

• Hypertelorism

  Hypertelorism MedGen UID: 9373 •Concept ID: C0020534 • Finding Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. [ncbi.nlm.nih.gov]

  Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. [uniprot.org]

  Physical examination showed microcephaly (26.5 cm, < third centile), hypertelorism and micrognathia. He had mild proteinuria at 3 days of age but had no other abnormal urinalysis results. [frontiersin.org]

  The characteristic phases include an abnormally high but narrow forehead, ocular hypertelorism, almond-shaped eyes, pinched nose, large, and low-set ears with or without ear cartilage deficiency, micrognathia, high arched palate, and abnormal dentition [sjkdt.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]

• Renal Function Impairment

  The proteinuria was steroid-resistant and eventually resulted in renal function impairment. Prenatal ultrasound findings included microcephaly, intrauterine growth restriction, and oligohydramnios. [pesquisa.bvsalud.org]

• Renal Insufficiency

  Individual II-3 from family A presented with steroid resistant NS at 5 years of age, rapidly developed chronic renal insufficiency, and eventually died within a month. [ncbi.nlm.nih.gov]

• Seizure

  Definition A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. [uniprot.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]

• Global Developmental Delay

  developmental delay Intellectual disability Pachygyria Periventricular leukomalacia Spasticity Ventriculomegaly Ear malformation Hearing impairment Large earlobe IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies [ncbi.nlm.nih.gov]

  developmental delay: the Galloway Mowat Syndrome. 61 Krishnamurthy S...Zenker M 22144119 2012 29 Galloway-Mowat syndrome: neurologic features in two sibling pairs. 61 Ekstrand JJ...Stafstrom CE 22759691 2012 30 Diffuse mesangial sclerosis - Report of [malacards.org]

  Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway-Mowat syndrome. Indian J Pediatr. 2012;79:1087-1090. http://www.ncbi.nlm.nih.gov/pubmed/22144119 Pezzella M, Yeghiazaryan NS, Veggiotti P, et al. [rarediseases.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]

• Albuminuria

  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]

  Urinary analysis may reveal small traces of blood (hematuria) and abnormally high levels of protein (proteinuria), specifically albumin (albuminuria), in the urine. [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]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.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]

[…] motor skills normal for the chronological age, particularly skills requiring coordination of muscular and mental activity (psychomotor retardation).[2] As nephrosis fails to respond to any form of therapy and progresses to end-stage renal disease, the prognosis [sjkdt.org]

PMID: 28937085 Prognosis Steiss JO, Gross S, Neubauer BA, Hahn A Neuropediatrics 2005 Oct;36(5):332-5. doi: 10.1055/s-2005-872842. [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]

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]

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

[…] disease Abnormality of the musculoskeletal system Microcephaly Abnormality of the nervous system Brain atrophy Cerebellar ataxia Global developmental delay Pachygyria Peripheral demyelination Spasticity Ventriculomegaly Ear malformation Hearing impairment 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]

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]

The identification of proteins interacting with WDR73 and/or mutations in other genes associated with GMS will shed more light on the role of WDR73 and the pathophysiology of this very rare condition. Acknowledgments We thank Moin A. [ncbi.nlm.nih.gov]

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]