Living with Frasier syndrome
A genetic condition that affects the kidneys and genitals, with kidney disease starting in early childhood.
Understanding Frasier syndrome
Kidney disease begins in early childhood, with scarring in the kidneys' filters (focal segmental glomerulosclerosis) that often leads to kidney failure by the teen years. Males with the typical male chromosome pattern (46,XY) have gonadal dysgenesis. Their genitals may look not clearly male or female, or look female. Their gonads are often removed early because they can become cancerous. Females usually have typical genitals and only the kidney features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Scarring in the kidney filters (FSGS)
- Nephrotic syndrome
- High blood pressure
- Kidney failure
- Ambiguous or female-looking genitals in males
- Underdeveloped gonads (streak gonads)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include cancer specialists, genetic specialists, hormone specialists and kidney specialists.
- 3Consider genetic testing
Changes in WT1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
NephCure Kidney International may keep lists of experts for this condition.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: NephCure Kidney International
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with NephCure Kidney International and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the WT1 gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: frasier syndrome, autosomal dominant, somatic mutation
Patient organizations
- NephCure Kidney InternationalFrasier syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Frasier syndrome.
Explore research for Frasier syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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