ODCs

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Frasier syndrome

1 OMIM reference -
1 associated gene
38 connected diseases
7 signs/symptoms

Disease	Type of connection
46,XY partial gonadal dysgenesis
Denys-Drash syndrome
Desmoplastic small round cell tumor
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Meacham syndrome
Nephroblastoma
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
WAGR syndrome
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
17q11 microdeletion syndrome
Cerebellar ataxia-deafness-narcolepsy syndrome
Dedifferentiated liposarcoma
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Multiple endocrine neoplasia type 1
Weaver syndrome
Well-differentiated liposarcoma
Zollinger-Ellison syndrome
Familial isolated dilated cardiomyopathy
Renal coloboma syndrome
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Split hand-split foot malformation

Synonym(s): (no synonyms)

Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare oncologic disease - Rare renal disease - Rare urogenital disease		Classification (ICD10): - Diseases of the genitourinary system -

Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		External references: 1 OMIM reference - 1 MeSH reference: D052159

Gene symbol	UniProt reference	OMIM reference
WT1	P19544	607102

Very frequent

- Late puberty / hypogonadism / hypogenitalism
- Male pseudohermaphrodism / lack of virilisation
- Primary amenorrhea

Frequent

- Nephrotic syndrome
- Proteinuria
- Renal failure
- Renal glomerular defect / glomerulopathy