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Frasier Syndrome

A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
Also Known As:
Syndrome, Frasier
Networked: 23 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Gonadoblastoma
2. Wilms Tumor (Wilm's Tumor)
3. XY Disorders of Sex Development 46 (Male Pseudohermaphroditism)
4. Renal Insufficiency (Renal Failure)
5. Disorders of Sex Development (Intersexuality)

Experts

1. Meijerink, Wilhelmus Jhj: 1 article (01/2016)
2. van Tellingen, Anne: 1 article (01/2016)
3. Nurmohamed, Shaikh A: 1 article (01/2016)
4. van der Sluis, Wouter B: 1 article (01/2016)
5. Bouman, Mark-Bram: 1 article (01/2016)
6. But, W M: 1 article (12/2015)
7. Cheng, C W: 1 article (12/2015)
8. Wong, M Y: 1 article (12/2015)
9. Lam, Y Y: 1 article (12/2015)
10. Ng, K L: 1 article (12/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Frasier Syndrome:
1. Protein Isoforms (Isoforms)IBA
2. Segmental glomerulosclerosisIBA
3. RNA Splice SitesIBA
4. GuanineIBA
5. AdenineFDA LinkGeneric
6. Cyclosporine (Ciclosporin)FDA LinkGeneric
7. Threonine (L-Threonine)FDA Link
8. Growth Hormone (Somatotropin)IBA
9. Serine (L-Serine)FDA Link
10. Messenger RNA (mRNA)IBA

Therapies and Procedures

1. Transplants (Transplant)
2. Transplantation (Transplant Recipients)
3. Renal Dialysis (Hemodialysis)
4. Castration