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]

(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]

Among the recruited cohort, consanguinity was present in 63% of parents, suggesting some bias in sampling towards those with affected children due to recessive disease. [ncbi.nlm.nih.gov]

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

• Developmental Delay

  UniProtKB/Swiss-Prot: 73 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 [malacards.org]

  KiranFarkhanda Hafeez Medicine Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2008 This case report describes Galloway-Mowat syndrome in a young boy suffering from congenital microcephaly, developmental delay, seizures and various [semanticscholar.org]

  Abstract Galloway-Mowat syndrome is an autosomal recessive disorder presenting as early-onset nephrotic syndrome and central nervous system abnormalities, including microcephaly and developmental delays. [pedneur.com]

  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]

  Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome (summary by Rosti et al., 2017). [ncbi.nlm.nih.gov]

• Epilepsy

  Epilepsy may be intractable. The nephrotic syndrome does not respond to either steroid or immunosuppressive therapy. Renal transplant may be considered for ESKD. Multidisciplinary approach is encouraged to offer a global symptomatic care. [orpha.net]

  There was also intrafamilial variability as one sibling in the family suffered from epilepsy while the other was seizure-free. Epilepsy was also observed previously in some patients with GMS, prior to gene discovery [Pezzella et al., 2010]. [ncbi.nlm.nih.gov]

  Galloway-Mowat syndrome: An early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. Seizure. 2010; 19: 132-135 Kozlowski P.B. Sher J.H. Nicastri A.D. Rudelli R.D. [pedneur.com]

  […] 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]

  Galloway-Mowat syndrome: An early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. Seizure 2010;19:132-5. 7. [jcnonweb.com]

• Arachnodactyly

  Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS7 inheritance is autosomal recessive. MalaCards based summary: Galloway-Mowat Syndrome 7, is also known as gamos7. [malacards.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]

  Arachnodactyly MedGen UID: 2047 •Concept ID: C0003706 • Congenital Abnormality Abnormally long and slender fingers ("spider fingers"). [ncbi.nlm.nih.gov]

  Dysmorphic features include short stature, facial dysmorphism (including a high, narrow forehead, hypertelorism, almond-shape eyes, large and low set ears, and micrognathia) and more variably arachnodactyly, camptodactyly and clasp thumb. [orpha.net]

  In a large study conducted by Braun et al. [11], most of the Taiwanese patients had arachnodactyly and carried OSGEP mutations. [bmcmedgenet.biomedcentral.com]

• Asymptomatic

  Zidovudine-associated adverse reactions in a longitudinal study of asymptomatic HIV-1-infected homosexual males. J Acquir Immune Defic Syndr. 1991;4:1218 - 1226. * Golik A, Modai D, Averbukh Z, et al. [mscenter.med.nyu.edu]

  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]

• Fatigue

  Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. [ncbi.nlm.nih.gov]

• Vomiting

  Such gastroesophageal reflux may cause affected infants to spit up and/or vomit repeatedly; in some cases, vomiting may be particularly forceful (projectile vomiting). [rarediseases.org]

• Failure to Thrive

  He showed a developmental delay and failure to thrive. At 7 days after birth, amplitude-integrated EEG results suggested delayed background activity maturity. [frontiersin.org]

• Seizure

  UniProtKB/Swiss-Prot: 73 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 [malacards.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]

• Renal Insufficiency

  The rest of the patients are still being followed for proteinuria and renal insufficiency keeping in mind that symptoms can appear later in life and progress after onset. [ncbi.nlm.nih.gov]

• Kidney Failure

  Stage 5 chronic kidney disease MedGen UID: 384526 •Concept ID: C2316810 • Disease or Syndrome A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration [ncbi.nlm.nih.gov]

• 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. [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]

• 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]

  Diagnostic methods The coexistence of albuminuria and CNS abnormalities, or of CNS anomalies and functional visual impairment in infants and children is suggestive of the diagnosis. Molecular analysis may confirm the diagnosis. [orpha.net]

  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]

Zinc acexamate versus famotidine in the treatment of acute duodenal ulcer [in Spanish; English abstract]. Rev Esp Enferm Dig. 1996;88:757 - 762. * Simkin PA. Treatment of rheumatoid arthritis with oral zinc sulfate. [mscenter.med.nyu.edu]

Management and treatment There is no specific treatment available. Epilepsy may be intractable. The nephrotic syndrome does not respond to either steroid or immunosuppressive therapy. Renal transplant may be considered for ESKD. [orpha.net]

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

Prognosis The prognosis is poor; children with early-onset NS typically die during the first year of life due to ESKD. Longer survival is reported for children with later onset NS. [orpha.net]

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]

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]

Etiology Galloway-Mowat is a genetically heterogeneous condition with causative mutations in at least seven genes, four of which code subunits of Kinase, Endopeptidase and Other Proteins of small Size (KEOPS) complex. [orpha.net]

Summary Epidemiology More than 100 cases have been reported to date. Males and females are equally affected. [orpha.net]

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]

WDR73 loss-of-function, and support the consensus that proper regulation of UsnRNA maturation, transcription initiation and cell cycle control are all critical in maintaining the health of post-mitotic cells such as glomerular podocytes and neurons, and preventing [hal.archives-ouvertes.fr]

Prevention of diarrhea and pneumonia by zinc supplementation in children in developing countries: Pooled analysis of randomized controlled trials. J Pediatr. 1999;135:689 - 697. * Godfrey HR, Godfrey NJ, Godfrey JC, et al. [mscenter.med.nyu.edu]

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