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| family with sequence similarity 123B | |
|---|---|
| Identifiers | |
| Symbol | FAM123B |
| Alt. symbols | WTX |
| NCBI gene | 139285 |
| HGNC | 26837 |
| OMIM | 300647 |
| RefSeq | NM_152424 |
| Other data | |
| Locus | Chr. X q11.1 |
FAM123B is a human gene, also referred to as WTX.
It has been associated with Wilms tumor. [1]
Wilms' tumor or Wilms tumor, also known as nephroblastoma, is a cancer of the kidneys that typically occurs in children, and occurs most commonly as a renal tumor in child patients. It is named after Max Wilms, the German surgeon (1867–1918) who first described it.
Li–Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder that predisposes carriers to cancer development. It was named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni Jr., who first recognized the syndrome after reviewing the medical records and death certificates of 648 childhood rhabdomyosarcoma patients. This syndrome is also known as the sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome.
Alfred George Knudson, Jr. was an American physician and geneticist specializing in cancer genetics. Among his many contributions to the field was the formulation of the Knudson hypothesis in 1971, which explains the effects of mutation on carcinogenesis.
A blastoma is a type of cancer, more common in children, that is caused by malignancies in precursor cells, often called blasts. Examples are nephroblastoma, medulloblastoma, and retinoblastoma. The suffix -blastoma is used to imply a tumor of primitive, incompletely differentiated cells, e.g., chondroblastoma is composed of cells resembling the precursor of chondrocytes.
Simpson–Golabi–Behmel syndrome (SGBS), is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with sgbs which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs. The syndrome is inherited in an X-linked recessive manner. Females that possess one copy of the mutation are considered to be carriers of the syndrome but may still express varying degrees of the phenotype, suffering mild to severe malady. Males experience a higher likelihood of fetal death.
Denys–Drash syndrome (DDS) or Drash syndrome is a rare disorder or syndrome characterized by gonadal dysgenesis, nephropathy, and Wilms' tumor.
Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms' tumour, which is primarily a kidney tumour that occurs mainly in children.
Congenital nephrotic syndrome is a rare kidney disease which manifests in infants during the first 3 months of life, and is characterized by high levels of protein in the urine (proteinuria), low levels of protein in the blood, and swelling. This disease is primarily caused by genetic mutations which result in damage to components of the glomerular filtration barrier and allow for leakage of plasma proteins into the urinary space.
Wilms tumor protein (WT33) is a protein that in humans is encoded by the WT1 gene on chromosome 11p.
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.
60S ribosomal protein L10 is a protein that in humans is encoded by the RPL10 gene.
Pre-mRNA-splicing regulator WTAP is a protein that in humans is encoded by the WTAP gene.
Solute carrier family 22 member 18 is a protein that in humans is encoded by the SLC22A18 gene.
Tetraspanin-32 is a protein that in humans is encoded by the TSPAN32 gene.
Frasier syndrome is a urogenital anomaly associated with the WT1 gene.
Perlman syndrome (PS), also known as nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome, is a rare overgrowth syndrome caused by autosomal recessive mutations in the DIS3L2 gene. PS is characterized by macrocephaly, neonatal macrosomia, nephromegaly, renal dysplasia, dysmorphic facial features, and increased risk for Wilms' tumor. The syndrome is associated with high neonatal mortality.
In molecular biology, WT1 antisense RNA, also known as WT1-AS or WIT1, is a long non-coding RNA. In humans, it is found on chromosome 11 and is expressed in kidney. It is transcribed in the opposite direction to the WT1 gene. It is functionally imprinted in the human kidney, where only the paternal allele is expressed, but not in the foetal kidney.
Daniel A. Haber is the director of the Massachusetts General Hospital Cancer Center, a professor of oncology at Harvard Medical School, and an investigator of the Howard Hughes Medical Institute (HHMI).
Sabera Nazneen Rahman is a geneticist who specialises in cancer research and is a non-executive director for Astra Zeneca. She was previously head of Genetics and Epidemiology at the Institute of Cancer Research.
Wilms tumor-4 is a protein that in humans is encoded by the WT4 gene.
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