Frasier syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr: 347
OMIM Id: 136680
ICD-10: N04.1
UMLs: C0950122
MeSH: D052159
MedDRA:
Snomed: 445431000

Prevalence, inheritance and age of onset:

Prevalence: > 50 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease
Primary glomerular disease
 -Rare genetic disease
 -Rare renal disease
Syndrome with 46,XY disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndrome with disorder of sex development of gynecological interest
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0000149) Ovarian gonadoblastoma 2 / 7739
2
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
3
 (HPO:0000786) Primary amenorrhea Very frequent [Orphanet] 61 / 7739
4
 (HPO:0000037) Male pseudohermaphroditism Very frequent [Orphanet] 25 / 7739
5
 (HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
6
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
7
 (HPO:0100820) Glomerulopathy Frequent [Orphanet] 46 / 7739
8
 (HPO:0000097) Focal segmental glomerulosclerosis 37 / 7739
9
 (HPO:0000150) Gonadoblastoma 8 / 7739
10
 (HPO:0000100) Nephrotic syndrome Frequent [Orphanet] 83 / 7739
11
 (HPO:0000133) Gonadal dysgenesis 21 / 7739
12
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
13
 (HPO:0001428) Somatic mutation 100 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Frasier syndrome is a rare disorder defined by pseudohermaphroditism and progressive glomerulopathy (Frasier et al., 1964; Haning et al., 1985; Kinberg et al., 1987). Patients present with normal female external genitalia, streak gonads, and XY karyotype, and frequently ...
Clinical Description OMIM Moorthy et al. (1987) suggested that some of the patients reported as cases of Denys-Drash syndrome (194080) in fact had a different disorder for which they suggested the designation Frasier syndrome (Frasier et al., 1964). Moorthy et al. ...
Molecular genetics OMIM Because mutations in exons 8 or 9 of the WT1 gene had been identified in 10 unrelated patients with Denys-Drash syndrome by Pelletier et al. (1991), Poulat et al. (1993) screened exons 1 through 10 of WT1 in ...