Diseases

Frasier Syndrome

A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.

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Synonyms

1 entry terms
  • Syndrome, Frasier

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Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

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Indexing Annotation

do not confuse with FRASER SYNDROME

MeSH Record

History Note

2006; use DENYS-DRASH SYNDROME 2002-2005

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AMA Style

References

  1. National Library of Medicine. Frasier Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D052159. http://id.nlm.nih.gov/mesh/2026/D052159
  2. Frasier Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Frasier_syndrome
  3. Frasier Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q5493754