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Features include always present findings: Stage 5 chronic kidney disease, Strabismus, Nephrotic syndrome, and Cerebral cortical atrophy and others; and common findings: Narrow forehead, Delayed CNS myelination, Hearing loss (hearing impairment), and Seizure and others. 21 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 6 | Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis |
NUP133 encodes nucleoporin 133 (1,156 aa). Involved in poly(A)+ RNA transport. Involved in nephrogenesis Highest expression in Nerve Tibial (35.8 TPM) and Ovary (33.2 TPM).
Galloway-Mowat syndrome 8 is associated with mutations in the NUP133 gene on chromosome 1.
NUP133 is classified as a druggable target with score 0.0.
Genetic testing for NUP133 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 10 always present features, 6 common features.
No clinical trials have been registered for Galloway-Mowat syndrome 8.
6 publications have been identified in PubMed for Galloway-Mowat syndrome 8. Research spans Review / Meta-Analysis (50%), Basic Science / Preclinical (33%), and Case Report / Case Series (17%).
Wei B (2026). [PMID: 41782252](https://pubmed.ncbi.nlm.nih.gov/41782252/). *Ophthalmic genetics*. [Basic Science / Preclinical]
Wei J (2025). [PMID: 40490705](https://pubmed.ncbi.nlm.nih.gov/40490705/). *BMC pediatrics*. [Review / Meta-Analysis]
Huang L (2025). [PMID: 40533795](https://pubmed.ncbi.nlm.nih.gov/40533795/). *Cell communication and signaling : CCS*. [Review / Meta-Analysis]
Taniguchi R (2025). [PMID: 40205196](https://pubmed.ncbi.nlm.nih.gov/40205196/). *Nature cell biology*. [Basic Science / Preclinical]
Yang YL (2025). [PMID: 40688758](https://pubmed.ncbi.nlm.nih.gov/40688758/). *Neurology. Genetics*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:36 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Galloway-Mowat syndrome 8
Brain and nerves | 5 | Cerebral cortical atrophy, Seizure, Profound intellectual disability |
Muscles | 4 | Cerebral cortical atrophy, Low muscle tone (hypotonia), Renal tubular atrophy |
Head and neck | 1 | Microcephaly |
Eyes | 1 | Strabismus |
Ears | 1 | Hearing loss (hearing impairment) |
AI-curated news mentioning Galloway-Mowat syndrome 8
Updated Mar 7, 2026
A new study provides a longitudinal genotype-phenotype correlation for OSGEP-associated Galloway-Mowat syndrome, linking prenatal imaging markers to neurologic and renal outcomes throughout the lifespan. This research enhances understanding of the disease's progression and potential early intervention strategies.