Disease Name: WAGR syndrome 1. What are other names of the Disea...
Question
Disease Name: WAGR syndrome
1. What are other names of the Disease?
2. Describe symptoms/phenotypes of the disease.
3. What genes are associated with the disease?
4. What is the genetic location of the gene? Describe only one gene.
5. What are the biochemical features of the protein and its function (if known)?
6. Describe the information on phenotypes of the disease.
7. What are the known types of inheritance?
8. Describe the molecular genetic information of the disease such as allelic variants, mutation, deletion, duplication, etc.).
9. Describe one of the “Animal Models” used to study the disease (if any).
1. What are other names of the Disease?
2. Describe symptoms/phenotypes of the disease.
3. What genes are associated with the disease?
4. What is the genetic location of the gene? Describe only one gene.
5. What are the biochemical features of the protein and its function (if known)?
6. Describe the information on phenotypes of the disease.
7. What are the known types of inheritance?
8. Describe the molecular genetic information of the disease such as allelic variants, mutation, deletion, duplication, etc.).
9. Describe one of the “Animal Models” used to study the disease (if any).
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WAGR syndrome
WAGR syndrome is a genetic disorder with multiple organ abnormalities. The name is derived from first letters of the most common manifestations seen in patients with it. W is for Wilms’ tumor, A is for aniridia, G is for genito-urinary malformations and R is for retardation.
This syndrome is also known as Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome, WAGR Complex, Chromosome 11p deletion syndrome, 11p deletion syndrome.
WAGR syndrome is usually associated with two or more organ disorders.
WAGR syndrome is a genetic disorder with multiple organ abnormalities. The name is derived from first letters of the most common manifestations seen in patients with it. W is for Wilms’ tumor, A is for aniridia, G is for genito-urinary malformations and R is for retardation.
This syndrome is also known as Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome, WAGR Complex, Chromosome 11p deletion syndrome, 11p deletion syndrome.
WAGR syndrome is usually associated with two or more organ disorders.
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