A síndrome de Galloway é caracterizada pela associação de síndrome nefrótica e anomalias do sistema nervoso central.
Introdução
O que você precisa saber de cara
A síndrome de Galloway é caracterizada pela associação de síndrome nefrótica e anomalias do sistema nervoso central.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 49 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 162 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
10 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive, X-linked recessive.
Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:27903914). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:22912744, PubMed:27903914). TP53RK has ATPase activity in the context of the EKC/KEOPS complex and likely plays a supporting role to
CytoplasmNucleus
Galloway-Mowat syndrome 4
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. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. 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. Most patients die in early childhood.
Cytoplasmic and mitochondrial threonylcarbamoyl-AMP synthase required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:29760464, PubMed:31481669, PubMed:34545459). Catalyzes the conversion of L-threonine, HCO(3)(-)/CO(2) and ATP to give threonylcarbamoyl-AMP (TC-AMP) as the acyladenylate intermediate, with the release of diphosphate (PubMed:29760464). Participates in t(6)A37 formation in cytoplasmic and
CytoplasmMitochondrionCell membrane
Galloway-Mowat syndrome 10
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. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS10 is an autosomal recessive form with fatal outcome. Patients manifest congenital hypothyroidism in addition to neurologic, renal and dysmorphic features.
Component of a multiprotein complex required for the assembly of the RNA endonuclease module of the integrator complex (PubMed:39032489). Associates with INTS9 and INTS11 in the cytoplasm, stabilizing the INTS9-INTS11 heterodimer and blocking the active site of INTS11 (PubMed:39032489). BRAT1 then joins the complex and plugs the active site of INTS11, leading to WDR73 release and nuclear import of INTS9 and INTS11 (PubMed:39032489)
CytoplasmCytoplasm, cytoskeleton, spindleCytoplasm, cytoskeleton, spindle poleCleavage furrow
Galloway-Mowat syndrome 1
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. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. 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. Patients may die in early childhood. GAMOS1 inheritance is autosomal recessive.
Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. OSGEP likely plays a direct catalytic role in this reaction, but requires other protein(s) of the complex to fulfill this activity
CytoplasmNucleus
Galloway-Mowat syndrome 3
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. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. 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. Most patients die in early childhood.
Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:28805828). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:22912744, PubMed:28805828). TPRKB acts as an allosteric effector that regulates the t(6)A activity of the complex. TPRKB is not requ
Cytoplasm, cytosolNucleus
Galloway-Mowat syndrome 5
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. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. 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. Most patients die in early childhood.
Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:27903914). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:22912744, PubMed:27903914). LAGE3 functions as a dimerization module for the complex (PubMed:22912744, PubMed:27903914)
CytoplasmNucleus
Galloway-Mowat syndrome 2, X-linked
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. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. 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. Most patients die in early childhood.
Non-catalytic component of the METTL1-WDR4 methyltransferase complex required for the formation of N(7)-methylguanine in a subset of RNA species, such as tRNAs, mRNAs and microRNAs (miRNAs) (PubMed:12403464, PubMed:31031083, PubMed:31031084, PubMed:36599982, PubMed:36599985, PubMed:37369656). In the METTL1-WDR4 methyltransferase complex, WDR4 acts as a scaffold for tRNA-binding (PubMed:36599982, PubMed:36599985, PubMed:37369656). Required for the formation of N(7)-methylguanine at position 46 (m
NucleusChromosome
Galloway-Mowat syndrome 6
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. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. 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. Most patients die in early childhood. GAMOS6 is an autosomal recessive form with onset in infancy or early childhood. Affected individuals manifest microcephaly, global developmental delay, variable degrees of intellectual disability, and growth deficiency. Renal impairment may be age-dependent or may not be present.
Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:12552102, PubMed:15229283). May anchor NUP62 to the NPC (PubMed:15229283). Involved in nephrogenesis (PubMed:30179222)
Nucleus membraneNucleus, nuclear pore complexChromosome, centromere, kinetochore
Nephrotic syndrome 11
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS11 is an autosomal recessive, steroid-resistant and progressive form with onset in the first decade of life.
Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:27903914, PubMed:31481669). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:27903914, PubMed:31481669). GON7 plays a supporting role to the catalytic subunit OSGEP in the complex (PubMed:27903914, PubMed:3148
Nucleus
Galloway-Mowat syndrome 9
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. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS9 inheritance is autosomal recessive.
Involved in poly(A)+ RNA transport. Involved in nephrogenesis (PubMed:30179222)
Nucleus, nuclear pore complexChromosome, centromere, kinetochore
Nephrotic syndrome 18
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS18 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life.
Variantes genéticas (ClinVar)
130 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 284 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
33 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Galloway-Mowat
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
OSGEP-Associated Galloway-Mowat Syndrome: A Longitudinal Genotype-Phenotype Correlation from Prenatal Imaging Markers to Lifespan Neurologic-Renal Trajectories.
Galloway-Mowat syndrome type 3 (GAMOS3) is a rare autosomal recessive disorder characterized by the co-occurrence of renal and neurological abnormalities in early childhood, caused by OSGEP gene variants. This study aims to characterize the genetic and phenotypic spectrum of GAMOS3 and evaluate correlations from prenatal imaging features to lifelong neurological and renal manifestations. We retrospectively reviewed the medical records of cases genetically diagnosed with OSGEP-associated GAMOS3 at our center between January 2016 and August 2024. Additionally, a systematic review of reported cases in literature was conducted. The clinical validity of the gene-disease relationship between OSGEP and GAMOS3 was also evaluated in accordance with the ClinGen Gene-Disease Clinical Validity Curation Framework. The postnatal renal and neurological dysfunction was associated with prenatal manifestations, indicating disease progression. Prominent prenatal features included fetal growth restriction (FGR), microcephaly, oligohydramnios, and abnormal cranial imaging. Notably, FGR worsened with advancing gestation, predominantly affecting fetal head and abdominal growth while sparing long bones. Fetal central nervous system magnetic resonance imaging revealed uncommon findings such as abnormal sulcation and increased T2 signal in the white matter, suggestive of myelination defects or leukoencephalopathy. Trio-based medical exome sequencing identified novel variants in the OSGEP gene within this cohort, expanding the known genetic spectrum of GAMOS3. Furthermore, the gene-disease relationship between OSGEP and GAMOS3 was conclusively validated as "Definitive" according to clinical-genetic criteria. This study provides a comprehensive overview of the clinical phenotypes and genetic spectrum of GAMOS3, spanning from the prenatal period throughout the life course.
A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.
Galloway-Mowat syndrome (GAMOS, OMIM: 251300) is a rare autosomal recessive (AR) neurodevelopmental disease, characterized by the combination of early-onset nephrotic syndrome and various central nervous system anomalies. The WD repeat-containing protein 73 (WDR73, OMIM: 616144) gene was the first gene found to be implicated in GAMOS1. An AR family with parental consanguinity underwent comprehensive clinical and genetic analyses. In this study, the variant identified by whole exome sequencing was confirmed by Sanger sequencing and cosegregation analysis. A literature review was conducted to summarize previously reported cases of GAMOS1 caused by mutations in the WDR73 gene. The proband with GAMOS1 was a 3-year-old boy with normal renal function and typical characteristics of GAMOS1, including idiopathic nystagmus, agenesis of genitalia, persistent axial hypotonia, mild cerebellar atrophy, thinning of the corpus callosum, and brainstem hypoplasia. A novel homozygous frameshift mutation c.972_973dupCT (p.F325Sfs * 10) in the exon 8 of the WDR73 gene was identified in the proband. We summarized thirty-six previously reported GAMOS1 cases caused by mutations in the WDR73 gene. We identified a novel homozygous frameshift mutation (c.972_973dupCT) in the WDR73 gene, causing AR GAMOS1 in a Chinese consanguineous family. The results are essential for further confirming the pathogenicity of WDR73 gene mutations and expanding the manifestation spectrum of GAMOS1.
Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.
BACKGROUND This report describes the surgical management and early auditory outcomes of bilateral cochlear implantation in a child with Galloway-Mowat syndrome (GAMOS). To the best of our knowledge, this is the first reported case of such surgery. GAMOS is an exceedingly rare genetic disorder characterized by microcephaly, early onset of steroid-resistant nephrotic syndrome, and brain anomalies. It is inherited in an autosomal recessive pattern and has a genetically heterogeneous basis. CASE REPORT We report the case of a young boy diagnosed with GAMOS who had profound bilateral deafness, cerebellar hypoplasia, hypotonia, epilepsy, and visual impairment likely due to optic nerve dysgenesis. Due to the deafness, he underwent bilateral cochlear implantation in 2 stages (at ages 2 and 3 years). No significant difficulties were encountered: appropriate surgical access was achieved despite partial bony overgrowth of the round window area, and soft electrodes were used to adapt to the dysplastic cochlear anatomy. Ethics committee approval was obtained and written informed parental consent was provided. Preliminary results at 6 months after the second implant were satisfactory. As a result of the cochlear implantation, the boy was able to perceive sounds and began using them to communicate with those around him. CONCLUSIONS Cochlear implantation can be a safe and effective solution for treating deafness in patients with GAMOS, at least in the short term, even if there are congenital defects such as cochlear dysplasia. Good surgical access and the use of soft electrodes are important in minimizing the risk of damage and maximizing auditory outcomes.
A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.
Refining the Phenotypic and Genotypic Spectrum of WDR73-Related Galloway-Mowat Syndrome: A Case Series and Systematic Review.
The aim of this report was to describe the phenotypic and genotypic spectrum of WDR73-related Galloway-Mowat syndrome (GAMOS). This study comprises a case series conducted from January 2016 to October 2024, along with a systematic review of WDR73-related GAMOS. Analysis was performed on demographic data, clinical features, neuroimaging findings, neurodevelopmental outcomes, and WDR73 gene variants of eligible individuals. We studied 64 individuals, including 4 from this case series and 60 from previous literature. The median reported age at disease onset ranged from 2.5 to 6 months. The most prevalent neurologic feature was microcephaly (55/64; 85.9%), followed by cerebellar atrophy (29/34; 85.3%), ocular abnormalities (54/64; 84.4%), axial hypotonia (52/64; 81.3%), and movement disorders (40/64; 62.5%). Proteinuria (37/64; 57.8%) was the leading extraneurologic feature while hiatal hernia (2/64; 3.1%) was the least observed classic feature. All individuals exhibited psychomotor impairment. A total of 18 WDR73 variants were identified, including 4 novel variants from this case series: c.21G > A (p.Trp7Ter), c.76G > A (p.Ala26Thr), c.214A > G (p.Arg72Gly), and c.884-171_c.*591del. Homozygous WDR73 variants were predominant (61/64; 95.3%) while 3 individuals carried compound heterozygous WDR73 variants. WDR73-related GAMOS is an autosomal recessive, infantile-onset neurodevelopmental disorder with multisystem involvement. Recognizing its clinical manifestations prior to genetic testing may help mitigate reproductive risks and facilitate comprehensive, individualized health care.
Publicações recentes
OSGEP-Associated Galloway-Mowat Syndrome: A Longitudinal Genotype-Phenotype Correlation from Prenatal Imaging Markers to Lifespan Neurologic-Renal Trajectories.
A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.
Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.
A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.
Refining the Phenotypic and Genotypic Spectrum of WDR73-Related Galloway-Mowat Syndrome: A Case Series and Systematic Review.
📚 EuropePMC70 artigos no totalmostrando 69
OSGEP-Associated Galloway-Mowat Syndrome: A Longitudinal Genotype-Phenotype Correlation from Prenatal Imaging Markers to Lifespan Neurologic-Renal Trajectories.
QJM : monthly journal of the Association of PhysiciansA novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.
Ophthalmic geneticsBilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.
The American journal of case reportsA novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.
NeurogeneticsRefining the Phenotypic and Genotypic Spectrum of WDR73-Related Galloway-Mowat Syndrome: A Case Series and Systematic Review.
Neurology. GeneticsGenetics and phenotypic heterogeneity of Galloway-Mowat syndrome.
Cell communication and signaling : CCSTwo brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review.
BMC pediatricsLate Presentation of Galloway-Mowat Syndrome (GAMOS) Associated With Membranous Nephropathy: A Case Report.
CureusGalloway-mowat syndrome 3 (GAMOS3): a novel disease-causing variant in OSGEP gene and expansion of the clinical spectrum.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyStructures of KEOPS bound to tRNA reveal functional roles of the kinase Bud32.
Nature communicationsGalloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature.
Ophthalmic geneticsRecurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants.
American journal of medical genetics. Part AO-Sialoglycoprotein Endopeptidase Deficiency Impairs Proteostasis and Induces Autophagy in Human Embryonic Stem Cells.
International journal of molecular sciencesAssembly mechanism of Integrator's RNA cleavage module.
Molecular cellCase Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome.
Frontiers in pediatricsPrdm15 acts upstream of Wnt4 signaling in anterior neural development of Xenopus laevis.
Frontiers in cell and developmental biologyUlectomy in a patient with nephrotic syndrome under investigation for Galloway-Mowat syndrome: a case report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryNovel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report.
Case reports in nephrology and dialysisA new case of Melnick-Needles syndrome with skeletal manifestations: A case report.
International journal of surgery case reportsER stress and slit diaphragms: is there a connection?
Kidney internationalNovel TP53RK variants cause varied clinical features of Galloway-Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients.
Frontiers in molecular neuroscienceWhole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway-Mowat syndrome in Iran.
CEN case reportsDiagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3.
BMC nephrologyX-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant.
Pediatrics and neonatologyWdr4 promotes cerebellar development and locomotion through Arhgap17-mediated Rac1 activation.
Cell death & diseaseThe transcription factor ATF4 mediates endoplasmic reticulum stress-related podocyte injury and slit diaphragm defects.
Kidney internationalConservation and Diversification of tRNA t6A-Modifying Enzymes across the Three Domains of Life.
International journal of molecular sciencesWDR73 Depletion Destabilizes PIP4K2C Activity and Impairs Focal Adhesion Formation in Galloway-Mowat Syndrome.
BiologyFunctional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome.
Human mutationNeuropathologic Findings in Galloway-Mowat Syndrome 3 With a Novel OSGEP Variant.
Journal of neuropathology and experimental neurologyGenomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.
Frontiers in geneticsGalloway-Mowat Syndrome Type 3 Caused by OSGEP Gene Variants: A Case Report and Literature Review.
Frontiers in pediatricsA patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs.
Documenta ophthalmologica. Advances in ophthalmologyA suite of in vitro and in vivo assays for monitoring the activity of the pseudokinase Bud32.
Methods in enzymologyCommonality and diversity in tRNA substrate recognition in t6A biogenesis by eukaryotic KEOPSs.
Nucleic acids researchNovel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization.
Clinica chimica acta; international journal of clinical chemistryGalloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis.
Gene expression patterns : GEPThe structural and functional workings of KEOPS.
Nucleic acids researchNeurological involvement in monogenic podocytopathies.
Pediatric nephrology (Berlin, Germany)Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.
Scientific reportsMutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
Journal of the American Society of Nephrology : JASNCrystal structure of the human PRPK-TPRKB complex.
Communications biologyA substrate binding model for the KEOPS tRNA modifying complex.
Nature communicationsAn unusual kidney presentation of severe proteinuria in a 2-year-old girl: Answers.
Pediatric nephrology (Berlin, Germany)Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series.
NephronFetal phenotype of Galloway-Mowat syndrome 3 caused by a specific OSGEP variant.
European journal of obstetrics, gynecology, and reproductive biologyDefects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
Nature communicationsAn unusual case of nephrotic syndrome in a microcephalic infant: Answers.
Pediatric nephrology (Berlin, Germany)Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
BMC nephrologyGalloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.
Orphanet journal of rare diseasesHomozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
Annals of neurologyWDR73-related galloway mowat syndrome with collapsing glomerulopathy.
European journal of medical geneticsNephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations.
Pediatric nephrology (Berlin, Germany)Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.
American journal of medical genetics. Part AA familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.
BMC medical geneticsExtending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
BMC ophthalmologyGalloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaNephrotic syndrome: Novel monogenic causes of Galloway-Mowat syndrome.
Nature reviews. NephrologyMutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Nature geneticsAn Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway.
Molecular biology of the cellSeizures Related to Hypomagnesemia: A Case Series and Review of the Literature.
Child neurology openHomozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
Journal of medical geneticsWDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
Clinica chimica acta; international journal of clinical chemistryCollapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome.
Case reports in nephrologyExtending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
American journal of medical genetics. Part AEarly onset nephrotic syndrome with dysmorphic facies and microcephaly.
Journal of nephropathologyWDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Human mutationRecessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Brain : a journal of neurologyNonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.
Journal of medical geneticsAssociações
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Referências e fontes
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Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- OSGEP-Associated Galloway-Mowat Syndrome: A Longitudinal Genotype-Phenotype Correlation from Prenatal Imaging Markers to Lifespan Neurologic-Renal Trajectories.
- A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.
- Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.
- A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.
- Refining the Phenotypic and Genotypic Spectrum of WDR73-Related Galloway-Mowat Syndrome: A Case Series and Systematic Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2065(Orphanet)
- MONDO:0009627(MONDO)
- GARD:65(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q4357083(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
