Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Features include always present findings: Nystagmus, Downslanted palpebral fissures, Microcephaly, and Global developmental delay and others; and common findings: Low muscle tone (hypotonia), Pectus excavatum, Arachnodactyly, and Brain shrinkage (cerebral atrophy) and others. 48 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 7 | Seizure, Intellectual disability, Global developmental delay |
OSGEP encodes O-sialoglycoprotein endopeptidase (335 aa). 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.
Galloway-Mowat syndrome 3 is associated with mutations in the OSGEP gene on chromosome 14.
OSGEP is classified as a druggable target (Enzyme and Protease categories) with score 0.5.
Genetic testing for OSGEP is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Galloway-Mowat syndrome 3 has been reported in the published literature.
Phenotype severity distribution: 6 always present features, 7 common features.
No clinical trials have been registered for Galloway-Mowat syndrome 3.
10 publications have been identified in PubMed for Galloway-Mowat syndrome 3. Research spans Case Report / Case Series (60%), Diagnostic / Biomarker (10%), and Review / Meta-Analysis (10%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 60% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:37 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Galloway-Mowat syndrome 3
Kidneys and urinary system | 4 | Glomerular sclerosis, Protein in the urine (proteinuria), Stage 5 chronic kidney disease |
Eyes | 3 | Strabismus, Nystagmus, Visual impairment |
Growth and development | 3 | Short stature, Failure to thrive, Intrauterine growth retardation |
Muscles | 3 | Low muscle tone (hypotonia), Shrinkage of the cerebellum (cerebellar atrophy), Brain shrinkage (cerebral atrophy) |
Head and neck | 2 | Microcephaly, High palate |
Heart and blood vessels | 1 | Hypertension |
1 |
10% |
Research summaries | 1 | 10% |
Laboratory research | 1 | 10% |
Disease patterns and progression | 1 | 10% |
Li F (2026). [PMID: 41795827](https://pubmed.ncbi.nlm.nih.gov/41795827/). *QJM : monthly journal of the Association of Physicians*. [Epidemiology / Natural History]
Wei B (2026). [PMID: 41782252](https://pubmed.ncbi.nlm.nih.gov/41782252/). *Ophthalmic genetics*. [Case Report / Case Series]
Porowski M (2026). [PMID: 41761595](https://pubmed.ncbi.nlm.nih.gov/41761595/). *The American journal of case reports*. [Basic Science / Preclinical]
Yeboah EK (2025). [PMID: 40357071](https://pubmed.ncbi.nlm.nih.gov/40357071/). *Cureus*. [Case Report / Case Series]
Huang L (2025). [PMID: 40533795](https://pubmed.ncbi.nlm.nih.gov/40533795/). *Cell communication and signaling : CCS*. [Review / Meta-Analysis]
Wei J (2025). [PMID: 40490705](https://pubmed.ncbi.nlm.nih.gov/40490705/). *BMC pediatrics*. [Case Report / Case Series]
Atallah I (2025). [PMID: 39473271](https://pubmed.ncbi.nlm.nih.gov/39473271/). *American journal of medical genetics. Part A*. [Diagnostic / Biomarker]
Yari A (2025). [PMID: 39661309](https://pubmed.ncbi.nlm.nih.gov/39661309/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Case Report / Case Series]
Yang YL (2025). [PMID: 40688758](https://pubmed.ncbi.nlm.nih.gov/40688758/). *Neurology. Genetics*. [Case Report / Case Series]
Sabath K (2024). [PMID: 39032489](https://pubmed.ncbi.nlm.nih.gov/39032489/). *Molecular cell*. [Case Report / Case Series]