Steroid-resistant nephropathy and 46,XY gonadal dysgenesis.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected (46,XY); Female: phenotype female; Children: yes, adolescence
- Gene(s) involved
- WT1
- Alternative names & eponyms
- Frasier syndrome
Etiology & mechanism
Splice-site WT1 variants (KTS isoform).
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Frasier syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Swyer syndrome
primary amenorrhea, streak gonads
1 shared
Action myoclonus–renal failure syndrome
proteinuria
1 shared
Alport syndrome
proteinuria
1 shared
Androgen insensitivity syndrome
primary amenorrhea
1 shared
Epstein syndrome
proteinuria
1 shared
Fanconi–Bickel syndrome
proteinuria
1 shared
HELLP syndrome
proteinuria
1 shared
Imerslund–Gräsbeck syndrome
proteinuria
1 shared
Kallmann syndrome
primary amenorrhea
1 shared
Mayer–Rokitansky–Küster–Hauser syndrome
primary amenorrhea
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