Hereditary Leiomyomatosis and Renal Cell Cancer malady

MedlinePlus: Uterine fibroids are the most common non-cancerous tumors in women of childbearing age. fibroids are made of muscle cells and other tissues that grow in and around the wall of the uterus, or womb. the cause of fibroids is unknown. risk factors include being african-american or being overweight. many women with uterine fibroids have no symptoms. if you have symptoms, they may include heavy or painful periods or bleeding between periods feeling "full" in the lower abdomen urinating often pain during sex lower back pain reproductive problems, such as infertility, multiple miscarriages or early labor most women with fibroids can get pregnant naturally. for those who cannot, infertility treatments may help. treatment for uterine fibroids includes medicines that can slow or stop their growth, or surgery. if you have no symptoms, you may not even need treatment. nih: national institute of child health and human development²³

MalaCards: Hereditary Leiomyomatosis and Renal Cell Cancer, also known as hlrcc, is related to leiomyomatosis and renal cell cancer and leiomyomatosis. An important gene associated with Hereditary 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 smooth muscle, kidney and skin, and related mouse phenotype homeostasis/metabolism.

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

NIH Rare Diseases: Hereditary leiomyomatosis and renal cell cancer is a genetic disease. Signs and symptoms usually begin in adulthood and include leiomyomas in the skin and, in females, the uterus (i.e., fibroids). Leiomyomas are benign (noncancerous) tumors containing smooth muscle tissue. People with this condition also have an increased risk of kidney cancer. It is caused by mutations in the FH gene. It is passed through families in an autosomal dominant fashion.³⁰

Wikipedia: Reed’s syndrome (or familial leiomyomatosis cutis et uteri) is a rare inherited condition...⁴⁴ more...

GeneReviews summary for hlrcc

hereditary leiomyomatosis and renal cell cancer 15 30 17 43 hlrcc 15 30 16 17 32 uterine fibroids 17 23 43 leiomyomatosis and renal cell cancer, hereditary 30 16 lrcc 30 17 hereditary leiomyomatosis and renal cell carcinoma 16 multiple cutaneous and uterine leiomyomata 17 leiomyomatosis and renal cell cancer 17

leiomyoma, multiple cutaneous 43 multiple cutaneous leiomyoma 17 reed's syndrome 17 uterine fibroid 8 leiomyomatosis 43 mcul 17 mcl 17

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

(show top 50)    (show all 178)

id	Related Disease	Score	Top Affiliating Genes
1	leiomyomatosis and renal cell cancer	34.4	THBS1, FH, LDHA, BNIP3
2	leiomyomatosis	34.2	THBS1, FH, LDHA, BNIP3
3	uterine fibroid	31.3	FH, THBS1
4	kidney cancer	29.2	BNIP3, LDHA, FH, THBS1
5	hypoxia	29.2	BNIP3, LDHA, FH, THBS1
6	pancreatitis	28.0	THBS1, FH, LDHA, BNIP3
7	ischemia	27.0	BNIP3, LDHA, THBS1
8	colorectal cancer	26.7	THBS1, FH, LDHA, BNIP3
9	breast cancer	26.4	BNIP3, LDHA, FH, THBS1
10	renal cell carcinoma	26.0	THBS1, FH, LDHA
11	prostate carcinoma	25.0	THBS1, FH, LDHA, BNIP3
12	lung carcinoma	24.8	THBS1, FH, LDHA, BNIP3
13	paraganglioma	12.6	BNIP3, FH
14	myelofibrosis	12.6	BNIP3, THBS1
15	breast adenocarcinoma	12.4	LDHA, THBS1
16	ductal carcinoma in situ	12.3	BNIP3, THBS1
17	ependymoma	12.1	BNIP3, LDHA
18	pheochromocytoma	11.3	THBS1, FH, LDHA, BNIP3
19	leukemia	9.7
20	myeloma	9.1
21	alport syndrome	8.8
22	intravenous leiomyomatosis	8.4
23	lymphocytic leukemia	8.4
24	multiple myeloma	8.2
25	mantle cell lymphoma	8.2
26	carcinoma	8.2
27	multiple cutaneous and uterine leiomyomata	8.2
28	reed syndrome	8.2
29	renal carcinoma	8.2
30	chronic lymphocytic leukemia	8.1
31	melanoma	8.1
32	myeloid leukemia	7.9
33	t-cell leukemia	7.9
34	lung cancer	7.6
35	submucous uterine fibroid	7.5
36	subserous uterine fibroid	7.5
37	leiomyomatosis, esophageal and vulval, with nephropathy	7.5
38	diffuse peritoneal leiomyomatosis	7.2
39	hepatocellular carcinoma	7.1
40	pancreatic cancer	7.1
41	uterus intravascular leiomyomatosis	6.9
42	b-cell lymphomas	6.9
43	cholangiocarcinoma	6.9
44	chronic myeloid leukemia	6.9
45	hodgkin's lymphoma	6.9
46	hepatitis	6.9
47	non-hodgkin lymphoma	6.9
48	prostatitis	6.9
49	arthritis	6.7
50	oral cancer	6.7

Approved drugs:

Drug clinical trials:

Genetic tests related to hereditary leiomyomatosis and renal cell cancer:

id	Genetic test	Affiliating Genes
1	Hereditary Leiomyomatosis And Renal Cell Cancer clinical/research	FH

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

²²

MGI Mouse Phenotypes related to hereditary 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 hereditary leiomyomatosis and renal cell cancer:

(show all 13)

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	LDH-A inhibition, a therapeutic strategy for treatmen t of hereditary leiomyomatosis and renal cell cancer. (19276158)	Xie H.... Seth P.	2009	LDHA, FH
3	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
4	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
5	Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. (17287871)	Sudarshan S.... Linehan W.M.	2007	FH
6	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
7	Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. (17392716)	Refae M.A.... Foulkes W.D.	2007	FH
8	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
9	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
10	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
11	Hereditary leiomyomatosis and renal cell cancer (HLRCC). (15579034)	Kiuru M.... Launonen V.	2004	FH
12	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
13	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 hereditary 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 hereditary 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 hereditary 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 hereditary 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 hereditary 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