Leiomyomatosis and Renal Cell Cancer malady

Genetics Home Reference: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer.¹⁷

MalaCards: Leiomyomatosis and Renal Cell Cancer, also known as leiomyomatosis, is related to hereditary leiomyomatosis and renal cell cancer and leiomyomatosis. An important gene associated with Leiomyomatosis and Renal Cell Cancer is FH (fumarate hydratase), and among its related pathways is Glucose / Energy Metabolism. The compounds 5fluorouracil and 5-aza-2deoxycytidine have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and uterus, and related mouse phenotype homeostasis/metabolism.

OMIM: 605839

leiomyomatosis and renal cell cancer 7 33 leiomyomatosis 43

Diseases related to leiomyomatosis and renal cell cancer by text searches and GeneDecks gene sharing:

(show all 46)

id	Related Disease	Score	Top Affiliating Genes
1	hereditary leiomyomatosis and renal cell cancer	37.5	THBS1, FH
2	leiomyomatosis	33.9	THBS1, FH, LDHA, BNIP3
3	uterine fibroid	30.6	FH, THBS1
4	kidney cancer	28.5	BNIP3, LDHA, FH, THBS1
5	hypoxia	28.5	BNIP3, LDHA, FH, THBS1
6	renal cell carcinoma	26.0	THBS1, FH, LDHA
7	paraganglioma	12.6	BNIP3, FH
8	myelofibrosis	12.6	BNIP3, THBS1
9	breast adenocarcinoma	12.4	LDHA, THBS1
10	ductal carcinoma in situ	12.3	BNIP3, THBS1
11	ependymoma	12.1	BNIP3, LDHA
12	ischemia	11.4	BNIP3, LDHA, THBS1
13	pheochromocytoma	11.3	THBS1, FH, LDHA, BNIP3
14	pancreatitis	11.2	THBS1, FH, LDHA, BNIP3
15	prostate carcinoma	11.2	THBS1, FH, LDHA, BNIP3
16	colorectal cancer	11.1	THBS1, FH, LDHA, BNIP3
17	lung carcinoma	11.1	THBS1, FH, LDHA, BNIP3
18	breast cancer	11.0	BNIP3, LDHA, FH, THBS1
19	alport syndrome	8.8
20	intravenous leiomyomatosis	8.4
21	carcinoma	7.7
22	multiple cutaneous and uterine leiomyomata	7.7
23	reed syndrome	7.7
24	renal carcinoma	7.7
25	leiomyomatosis, esophageal and vulval, with nephropathy	7.5
26	diffuse peritoneal leiomyomatosis	7.2
27	uterus intravascular leiomyomatosis	6.9
28	esophagitis	6.6
29	leiomyomatosis familial	6.6
30	leiomyomatosis of esophagus, cataract and hematuria	6.6
31	uterine corpus diffuse leiomyomatosis	6.6
32	uterine corpus leiomyomatosis	6.6
33	leiomyoma	6.0
34	leiomyoma of vulva and esophagus	6.0
35	endometriosis	5.1
36	leiomyosarcoma	5.1
37	lymphangioleiomyomatosis	5.1
38	multiple cutaneous and uterine leiomyomas	5.1
39	myoma	5.1
40	nephropathy	5.1
41	ovarian endometriosis	5.1
42	peritonitis	5.1
43	tuberous sclerosis	5.1
44	adenocarcinoma	5.1
45	cushing's syndrome	5.1
46	endometrial adenocarcinoma	5.1

Clinical features from OMIM: 605839

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to leiomyomatosis and renal cell cancer:

²²

MGI Mouse Phenotypes related to leiomyomatosis and renal cell cancer:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism phenotype	MP:0005376	8.0	BNIP3, LDHA, FH, THBS1

Articles related to leiomyomatosis and renal cell cancer:

(show all 16)

id	Title	Authors	Year	Affiliating Genes
1	Hereditary leiomyomatosis and renal cell cancer in fa milies referred for fumarate hydratase germline mutation analysis. (20618355)	Smit D.L.... Menko F.H.	2011	FH
2	Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditar y leiomyomatosis and renal cell cancer. (19373782)	Koski T.A.... Launonen V.	2009	FH
3	LDH-A inhibition, a therapeutic strategy for treatmen t of hereditary leiomyomatosis and renal cell cancer. (19276158)	Xie H.... Seth P.	2009	LDHA, FH
4	Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). (17908262)	Heinritz W.... Renner R.	2008	FH
5	Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. (19075141)	Stewart L.... Toro J.R.	2008	FH
6	Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. (18503824)	Ahvenainen T.... Launonen V.	2008	FH
7	Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. (17287871)	Sudarshan S.... Linehan W.M.	2007	FH
8	Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer. (17383644)	Catherino W.H.... Segars J.H.	2007	FH
9	Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. (17392716)	Refae M.A.... Foulkes W.D.	2007	FH
10	Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. (16597677)	Pithukpakorn M.... Toro J.R.	2006	FH
11	Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. (15937070)	Wei M.H.... Toro J.R.	2006	FH
12	Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome. (15586379)	Pollard P.... Tomlinson I.	2005	THBS1, FH, BNIP3
13	Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. (16237213)	Alam N.A.... Weaver T.	2005	FH
14	Hereditary leiomyomatosis and renal cell cancer (HLRCC). (15579034)	Kiuru M.... Launonen V.	2004	FH
15	Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. (12772087)	Toro J.R.... Zbar B.	2003	FH
16	Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. (12183404)	Kiuru M.... Aaltonen L.A.	2002	FH

Genes related to leiomyomatosis and renal cell cancer according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	FH	fumarate hydratase	11.0	Publications
2	BNIP3	BCL2/adenovirus E1B 19kDa interacting protein 3	11.0	Publications
3	LDHA	lactate dehydrogenase A	11.0	Publications
4	THBS1	thrombospondin 1	11.0	Publications

Pathways related to leiomyomatosis and renal cell cancer according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Glucose / Energy Metabolism3	9.1	LDHA, FH

Compounds related to leiomyomatosis and renal cell cancer according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	5fluorouracil32	9.3	THBS1, BNIP3
2	5-aza-2deoxycytidine32	9.2	BNIP3, THBS1
3	agarose32	9.1	THBS1, LDHA
4	pyruvate32	8.8	LDHA, FH
5	lactate32	8.7	BNIP3, FH, LDHA
6	vegf32	8.6	THBS1, LDHA, BNIP3
7	nitric oxide32 9 18 9	11.6	THBS1, LDHA, BNIP3
8	oxygen32 18	9.2	BNIP3, THBS1, FH, LDHA
9	glucose32	8.2	BNIP3, LDHA, FH, THBS1

Cellular components related to leiomyomatosis and renal cell cancer according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrion	GO:005739	8.5	BNIP3, LDHA, FH

Biological processes related to leiomyomatosis and renal cell cancer according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	anti-apoptosis	GO:006916	9.3	BNIP3, THBS1
2	response to hypoxia	GO:001666	9.2	BNIP3, THBS1
3	induction of apoptosis	GO:006917	9.0	BNIP3, THBS1