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1.

Carcinoma

A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm but is often wrongly used as a synonym for "cancer." (From Dorland, 27th ed) [from MeSH]

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.

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 GTR]

MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
6.

Wnt beta-Catenin Signaling Pathway

MedGen UID:
465428
Concept ID:
C3178960
Molecular Function
7.

JNK Pathway

MedGen UID:
453120
Concept ID:
C1621396
Molecular Function
8.

WNT Signaling Pathway BioCarta

A complex signaling pathway whose name is derived from the DROSOPHILA Wg gene, which when mutated results in the wingless phenotype, and the vertebrate INT gene, which is located near integration sites of MOUSE MAMMARY TUMOR VIRUS. The signaling pathway is initiated by the binding of WNT PROTEINS to cells surface WNT RECEPTORS which interact with the AXIN SIGNALING COMPLEX and an array of second messengers that influence the actions of BETA CATENIN. [from MeSH]

MedGen UID:
277003
Concept ID:
C1520113
Molecular Function
9.

DNA Methylation

The process by which methyl groups are added to nucleotides in genomic DNA. [from NCI]

MedGen UID:
138191
Concept ID:
C0376452
Molecular Function
10.

Methylation

The covalent chemical or biochemical addition of a methyl group(s) to a compound. (NCI) [from NCI]

MedGen UID:
44400
Concept ID:
C0025723
Molecular Function
11.

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 GTR]

MedGen UID:
463622
Concept ID:
C3160732
12.

Proliferation

MedGen UID:
137720
Concept ID:
C0334094
Pathologic Function
13.

Examined for

Having been subjected to inspection or evaluation. [from NCI]

MedGen UID:
83047
Concept ID:
C0332128
Finding
14.

Clear cell carcinoma of kidney

A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. [from NCI]

MedGen UID:
76018
Concept ID:
C0279702
Neoplastic Process
15.

Signaling Pathway

An elaboration of the known or inferred interactions involved in a signal transduction pathway. [from NCI]

MedGen UID:
39530
Concept ID:
C0086982
Molecular Function
16.

Acroerythrokeratoderma

Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the skin of the palms of the hands and soles of the feet becomes thick, hard, and callused. In mal de Meleda, the thickened skin is also found on the back of the hands and feet and on the wrists and ankles. In addition, affected individuals may have rough, thick pads on the joints of the fingers and toes and on the elbows and knees. Some people with mal de Meleda have recurrent fungal infections in the thickened skin, which can lead to a strong odor. Other features of this disorder can include short fingers and toes (brachydactyly), nail abnormalities, red skin around the mouth, and excessive sweating (hyperhidrosis). [from GTR]

MedGen UID:
7522
Concept ID:
C0025221
Congenital Abnormality; Disease or Syndrome
17.

Male Urogenital Diseases

Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE). [from MeSH]

MedGen UID:
318601
Concept ID:
C1720894
Disease or Syndrome
18.

Female Urogenital Diseases

Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). [from MeSH]

MedGen UID:
318599
Concept ID:
C1720887
Disease or Syndrome
19.

Female Urogenital Diseases and Pregnancy Complications

Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. [from MeSH]

MedGen UID:
318565
Concept ID:
C1720765
Disease or Syndrome
20.

Epithelial Neoplasm

A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. [from NCI]

MedGen UID:
277963
Concept ID:
C1368683
Neoplastic Process
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