Frasier syndrome
Findings
No curated finding names Frasier syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.
Definition from the Mondo Disease Ontology (MONDO:0007635), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Ambiguous genitalia, maleHPOHP:0000033
- Obligate (100% of cases)
- GlomerulopathyHPOHP:0100820
- Obligate (100% of cases)
- Gonadal dysgenesisHPOHP:0000133
- 3 of 3 reported patients
- Male pseudohermaphroditismHPOHP:0000037
- 3 of 3 reported patients
- Obligate (100% of cases)
- Nephrotic syndromeHPOHP:0000100
- 3 of 3 reported patients · Juvenile onset
- Frequent (30% to 79% of cases)
- Ovarian gonadoblastomaHPOHP:0000149
- 1 of 1 reported patient
Show the remaining 7
- Hypergonadotropic hypogonadismHPOHP:0000815
- Very frequent (80% to 99% of cases)
- Increased circulating gonadotropin levelHPOHP:0000837
- Very frequent (80% to 99% of cases)
- GonadoblastomaHPOHP:0000150
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
- Streak ovaryHPOHP:0010464
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WT1HGNC:12796
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Frasier syndrome
- Also called
- Frasier syndrome, autosomal dominant, somatic mutation