Research Evidence
Peer-reviewed studies linked via MeSH term "Syndrome, Frasier" from the MEDLINE/PubMed database.
Sort:
A review of the genetic background in complicated WT1-related disorders.
[object Object], [object Object] · Clin Exp Nephrol · 2025
WT1-related disorders: more than Denys-Drash syndrome.
[object Object], [object Object] · Pediatr Nephrol · 2024
PMID: 38326647Review
WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.
[object Object], [object Object], [object Object] et al. · Pediatr Nephrol · 2022
Gonadal tumor in Frasier syndrome: a review and classification.
[object Object], [object Object], [object Object] et al. · Cancer Prev Res (Phila) · 2015
PMID: 25623218Review
Malformation syndromes associated with disorders of sex development.
[object Object], [object Object], [object Object] et al. · Nat Rev Endocrinol · 2014
PMID: 24913517Review
The podocyte as a target: cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations.
[object Object], [object Object] · Eur J Pediatr · 2011
PMID: 21298518Review
Alternative splicing and its role in pathologies of the endocrine system.
[object Object], [object Object] · Endokrynol Pol · 2011
PMID: 21528479Review
New insights into the function of the Wilms tumor suppressor gene WT1 in podocytes.
[object Object], [object Object], [object Object] et al. · Am J Physiol Renal Physiol · 2008
PMID: 18385267Review
[The genetic background of congenital nephrotic syndrome].
[object Object] · Przegl Lek · 2006
PMID: 16898476Review
WT1 and glomerular diseases.
[object Object], [object Object] · Pediatr Nephrol · 2006
PMID: 16927106Review
Search all PubMed articles for Frasier syndrome
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Ambiguous genitalia in males
Always present (100%)HP:0000033
End-stage renal disease
Always present (100%)HP:0003774
Glomerulopathy
Always present (100%)HP:0100820
Male pseudohermaphroditism
Always present (100%)HP:0000037
Mixed gonadal dysgenesis
Always present (100%)HP:0000133
Ovarian gonadoblastoma
Always present (100%)HP:0000149
Decreased serum estradiol
Very frequent (80-99%)HP:0008214
Focal and segmental glomerulosclerosis
Very frequent (80-99%)HP:0000097
Gonadotropin excess
Very frequent (80-99%)HP:0000837
Primary amenorrhea
Very frequent (80-99%)HP:0000786
Primary hypogonadism
Very frequent (80-99%)HP:0000815
Proteinuria
Very frequent (80-99%)HP:0000093
Xy female gonadal dysgenesis
Very frequent (80-99%)HP:0008723
Gonadoblastoma
Frequent (30-79%)HP:0000150
High blood pressure
Frequent (30-79%)HP:0000822
Nephrosis
Frequent (30-79%)HP:0000100
Renal failure
Frequent (30-79%)HP:0000083
Streak ovary
Frequent (30-79%)HP:0010464
Nephroblastoma
Very rare (1-4%)HP:0002667
Related Conditions
Quick Facts
- SNOMED CT
- 445431000
- UMLS CUI
- C0950122
- Fully Specified Name
- Frasier syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.