loading...| Preferred Name |
WILMS TUMOR 1 |
|
| Synonyms |
NEPHROBLASTOMA |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/194070 |
|
| altLabel |
NEPHROBLASTOMA WT1 |
|
| cui |
C0027708 |
|
| Gene Locus |
11p13 |
|
| Gene Symbol |
WT1 NPHS4 |
|
| Has manifestation | ||
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
605982 |
|
| notation |
194070 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
WILMS TUMOR 1 |
|
| Scope Statement |
Two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) [MISCELLANEOUS] Rare adult cases reported [MISCELLANEOUS] Associated with several loci on chromosomes 11p15 (WT2, 194071), 16 (WT3, 194090), 17 (WT4, 601363), and 7 (WT5, 601583). [MISCELLANEOUS] Majority of Wilms tumors are sporadic [MISCELLANEOUS] Onset between 2-5 years [MISCELLANEOUS] Genetic heterogeneity [MISCELLANEOUS] Loss of tumor suppressor gene [MISCELLANEOUS] 5-10% of all Wilms tumor are bilateral [MISCELLANEOUS] Caused by mutation in the BRCA2 gene (BRCA2, 600185.0027) [MOLECULAR BASIS] 21% of hereditary Wilms tumor are bilateral [MISCELLANEOUS] Associated with several congenital malformation syndromes (WAGR 194072, Beckwith-Wiedemann syndrome 130650, abnormal urogenital development syndromes) [MISCELLANEOUS] Caused by mutation in the WT1 gene (WT1, 607102.0010) [MOLECULAR BASIS] |
|
| tui |
T191 |