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Items: 18

1.

Carcinoma

A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). [from HPO]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
2.

Carcinoma

MedGen UID:
910818
Concept ID:
CN241453
Finding
3.

Renal cell carcinoma

MedGen UID:
775811
Concept ID:
CN182935
Disease or Syndrome
4.

Renal cell carcinoma

A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. [from HPO]

MedGen UID:
505836
Concept ID:
CN004944
Finding
5.

Albinism, ocular, with sensorineural deafness

Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain.Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor.The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss.
[from GHR]

MedGen UID:
400230
Concept ID:
C1863198
Disease or Syndrome
6.

Renal cell carcinoma, papillary, 1

Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X. For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850). [from OMIM]

MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
7.

Poor prognosis

MedGen UID:
548766
Concept ID:
C0278252
Finding
8.

Nephroblastoma

The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. [from HPO]

MedGen UID:
505324
Concept ID:
CN002424
Finding
9.

Renal cell carcinoma, nonpapillary

The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see 605074) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma. Renal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos (summary by Motzer et al., 1996). Genetic Heterogeneity of Renal Cell Carcinoma Germline mutation resulting in nonpapillary renal cell carcinoma of the clear cell and chromophobe type occurs in the HNF1A gene (142410) and the HNF1B gene (189907). Somatic mutations in renal cell carcinomas occur in the VHL gene (608537), the TRC8 gene (603046), the OGG1 gene (601982), the ARMET gene (601916), the FLCN gene (607273), and the BAP1 gene (603089). See also RCCX1 (300854) for a discussion of renal cell carcinoma associated with translocations of chromosome Xp11.2 involving the TFE3 gene (314310). For a discussion of papillary renal cell carcinoma, see RCCP1 (605074). Occurrence of Renal Cell Carcinoma in Other Disorders Von Hippel-Lindau syndrome (193300) is a familial multicancer syndrome in which there is a susceptibility to a variety of neoplasms, including renal cell carcinoma of clear cell histology and renal cysts. A syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma has been reported (605839). Medullary carcinoma of the kidney is believed to arise from the collecting ducts of the renal medulla and is associated with sickle cell trait (603903) (Kovacs et al., 1997). Renal cell carcinoma occurs in patients with the Birt-Hogg-Dube syndrome (135150). Bertolotto et al. (2011) identified a missense mutation in the MITF (156845) gene that increases the risk of renal cell carcinoma with or without malignant melanoma (CMM8; 614456). [from OMIM]

MedGen UID:
463622
Concept ID:
C3160732
Neoplastic Process
10.

Wilms tumor 1

Aniridia is characterized by complete or partial iris hypoplasia usually (but not always) with associated foveal hypoplasia resulting in reduced visual acuity and nystagmus presenting in early infancy. Frequently associated ocular abnormalities (often of later onset) include cataract, glaucoma, and corneal opacification and vascularization. Aniridia may occur either as an isolated ocular abnormality without systemic involvement, caused by mutation of PAX6 or deletion of a regulatory region controlling its expression, or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome, with a deletion of 11p13 involving the PAX6 (aniridia) locus and the adjacent WT1 (Wilms tumor) locus. Individuals with deletion of PAX6 and WT1 are at up to a 50% risk of developing Wilms tumor. [from GeneReviews]

MedGen UID:
447509
Concept ID:
CN033288
Disease or Syndrome
11.

Neoplasm

A malignant tumor at the original site of growth. [from NCI]

MedGen UID:
227011
Concept ID:
C1306459
Finding; Neoplastic Process
12.

Clear cell carcinoma of kidney

A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. [from HPO]

MedGen UID:
76018
Concept ID:
C0279702
Neoplastic Process
13.

Nephroblastoma

Wilms tumor is a rare type of kidney cancer. It causes a tumor on one or both kidneys. It usually affects children, but can happen in adults. Having certain genetic conditions or birth defects can increase the risk of getting it. Children that are at risk should be screened for Wilms tumor every three months until they turn eight. Symptoms include a lump in the abdomen, blood in the urine, and a fever for no reason. Tests that examine the kidney and blood are used to find the tumor. Doctors usually diagnose and remove the tumor in surgery. Other treatments include chemotherapy and radiation and biologic therapies. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
14.

Urinary tract neoplasm

A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 [from NCI]

MedGen UID:
52949
Concept ID:
C0042076
Neoplastic Process
15.

Genitourinary neoplasm

A tumor (abnormal growth of tissue) of the genitourinary system. [from HPO]

MedGen UID:
22583
Concept ID:
C0042065
Neoplastic Process
16.

Nephropathy

Your kidneys are two bean-shaped organs, each about the size of your fists. They are located near the middle of your back, just below the rib cage. Inside each kidney about a million tiny structures called nephrons filter blood. They remove waste products and extra water, which become urine. The urine flows through tubes called ureters to your bladder, which stores the urine until you go to the bathroom. . Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You are at greater risk for kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include:. -Cancer. -Cysts. -Stones. -Infections. Your doctor can run tests to find out if you have kidney disease. If your kidneys fail completely, a kidney transplant or dialysis can replace the work your kidneys normally do. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
17.

Renal neoplasm

The presence of a neoplasm of the kidney. [from HPO]

MedGen UID:
5967
Concept ID:
C0022665
Neoplastic Process
18.

Adenocarcinoma

A malignant neoplasm arising from glandular cells. [from NCI]

MedGen UID:
122
Concept ID:
C0001418
Neoplastic Process
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