Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases

Universitätsklinikum Hamburg-Eppendorf

Status

Completed

Conditions

Frasier Syndrome

Wilms Tumor

Denys-Drash Syndrome

Nephrotic Syndrome

Study type

Observational

Funder types

Other

Identifiers

NCT01252901

WT1 Registry

Details and patient eligibility

About

The Wilms' tumor suppressor gene 1 (WT1) encodes for a transcription factor which plays an important role during urogenital development. Patients carrying a WT1 germline mutation show symptoms like proteinuria, Wilms tumors, genital malformations and kidney failure. Milder variants are possible and classification is not always possible. In this registry we are collecting detailed clinical data of affected individuals to establish genotype-phenotype correlations with the greater goal to optimize patient care.

Full description

The Wilms' tumor suppressor gene 1 (WT1) encodes for a transcription factor which plays an important role during urogenital development. Patients carrying a WT1 germline mutation show symptoms like proteinuria, Wilms tumors, genital malformations and kidney failure, which usually occur in early childhood. Milder variants are possible and classification as one of the three rare syndromes associated with WT1 mutations (Denys-Drash syndrome, Frasier syndrome or WAGR syndrome) is not always possible. In this registry we are collecting detailed clinical data of affected individuals to establish genotype-phenotype correlations with the greater goal to optimize patient care.

Enrollment

52 patients

Sex

All

Volunteers

No Healthy Volunteers

Inclusion criteria