MCL
MCID: HRD029
MIFTS: 59

Hereditary Leiomyomatosis and Renal Cell Cancer (MCL) malady

Nephrological diseases, Skin diseases, Cancer diseases, Immune diseases, Genetic diseases categories

Summaries for Hereditary Leiomyomatosis and Renal Cell Cancer

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Hereditary leiomyomatosis and renal cell cancer (hlrcc) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). the condition also increases the risk of kidney cancer. signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. they tend to increase in size and number over time. about 10% to 16% of people with hlrcc develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. some people have no symptoms until the cancer is advanced. hlrcc is caused by mutations in the fh gene and is inherited in an autosomal dominant manner. last updated: 1/9/2014

MalaCards: Hereditary Leiomyomatosis and Renal Cell Cancer, also known as hlrcc, is related to leiomyomatosis and kidney cancer, and has symptoms including kidney/renal neoplasm/tumor/carcinoma/cancer, vaginal/vulvar neoplasm/tumor/carcinoma/cancer and uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer. An important gene associated with Hereditary Leiomyomatosis and Renal Cell Cancer is FH (fumarate hydratase), and among its related pathways are Glucose / Energy Metabolism and Glycolysis and gluconeogenesis (short map). The compounds glucose and 5fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include uterus, skin and kidney, and related mouse phenotype homeostasis/metabolism.

Genetics Home Reference:21 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.

Wikipedia:63 Reed’s syndrome (or familial leiomyomatosis cutis et uteri) is a rare inherited condition... more...

Description from OMIM:46 150800

GeneReviews summary for hlrcc

Aliases & Classifications for Hereditary Leiomyomatosis and Renal Cell Cancer

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
hlrcc:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

hereditary leiomyomatosis and renal cell cancer 19 42 20 22 21 60
hlrcc 19 42 21 44 48
leiomyomatosis and renal cell cancer 21 46
familial leiomyomatosis 42 48
leiomyomatosis familial 42 22
mcul 42 21
lrcc 42 21
mcl 42 21
hereditary leiomyomatosis and renal cell carcinoma 21
hereditary leiomyomatosis with renal cell cancer 48
hereditary leiomyomatosis with renal carcinoma 48
familial leiomyomatosis with renal cell cancer 48
familial leiomyomatosis with renal carcinoma 48
multiple cutaneous and uterine leiomyomata 21
multiple cutaneous and uterine leiomyomas 48
hereditary multiple cutaneous leiomyomas 48
familial multiple cutaneous leiomyomas 48
mucocutaneous lymph node syndrome 60
leiomyoma, multiple cutaneous 60
multiple cutaneous leiomyoma 21
hereditary leiomyomatosis 48
reed's syndrome 21


External Ids:

ICD10 via Orphanet26 D23
OMIM46 150800

Related Diseases for Hereditary Leiomyomatosis and Renal Cell Cancer

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hereditary Leiomyomatosis and Renal Cell Cancer:



Diseases related to hereditary leiomyomatosis and renal cell cancer

Clinical Features for Hereditary Leiomyomatosis and Renal Cell Cancer

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46OMIM, 48Orphanet
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Clinical features from OMIM:

150800

Clinical synopsis from OMIM:

150800

Symptoms:

48 (show all 10)
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • vaginal/vulvar neoplasm/tumor/carcinoma/cancer
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • esophageal neoplasm/tumor/carcinoma/cancer
  • megaesophagus/cardiospasm/congenital dilation of the esophagus/achalasia
  • cataract/lens opacification
  • pruritus/itching
  • autosomal dominant inheritance
  • muscle anomalies
  • skin tumors/lumps/epidermal cysts

Drugs & Therapeutics for Hereditary Leiomyomatosis and Renal Cell Cancer

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hereditary Leiomyomatosis and Renal Cell Cancer

Drug clinical trials:

Search ClinicalTrials for Hereditary Leiomyomatosis and Renal Cell Cancer

Search NIH Clinical Center for Hereditary Leiomyomatosis and Renal Cell Cancer

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Genetic Tests for Hereditary Leiomyomatosis and Renal Cell Cancer

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20GeneTests, 22GTR
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Genetic tests related to Hereditary Leiomyomatosis and Renal Cell Cancer:

id Genetic test Affiliating Genes
1 Hereditary Leiomyomatosis and Renal Cell Cancer20 22 FH
2 Leiomyomatosis Familial22

Anatomical Context for Hereditary Leiomyomatosis and Renal Cell Cancer

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32MalaCards
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MalaCards organs/tissues related to Hereditary Leiomyomatosis and Renal Cell Cancer:

32
Uterus, Skin, Kidney, Smooth muscle, Lymph node, Cervix

Animal Models for Hereditary Leiomyomatosis and Renal Cell Cancer or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hereditary Leiomyomatosis and Renal Cell Cancer:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0LDHA, THBS1, FH, BNIP3

Publications for Hereditary Leiomyomatosis and Renal Cell Cancer

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50PubMed
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Articles related to Hereditary Leiomyomatosis and Renal Cell Cancer:

(show all 29)
idTitleAuthorsYear
1
Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer. (22982371)
2013
2
Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. (22565324)
2012
3
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance. (22086304)
2012
4
Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. (22127509)
2012
5
Protein Profiling of Blood Samples from Patients with Hereditary Leiomyomatosis and Renal Cell Cancer by Surface-Enhanced Laser Desorption/Ionization Time-of-Flight Mass Spectrometry. (23203078)
2012
6
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. (21398687)
2011
7
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. (20618355)
2011
8
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. (21404119)
2011
9
A case report of hereditary leiomyomatosis and renal cell cancer. (20510956)
2010
10
UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer. (19963135)
2010
11
Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient. (19967458)
2010
12
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? (19183174)
2009
13
Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer. (19373782)
2009
14
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer. (19276158)
2009
15
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). (17908262)
2008
16
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. (19075141)
2008
17
Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. (17287871)
2007
18
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer. (17383644)
2007
19
Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. (17509289)
2007
20
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. (17392716)
2007
21
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation. (17034471)
2006
22
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. (16597677)
2006
23
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. (15937070)
2006
24
Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer. (16948378)
2006
25
Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome. (15586379)
2005
26
Hereditary leiomyomatosis and renal cell cancer (HLRCC). (15579034)
2004
27
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. (12772087)
2003
28
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. (12183404)
2002
29
Hereditary Leiomyomatosis and Renal Cell Cancer (20301430)
1993

Genetic Variations for Hereditary Leiomyomatosis and Renal Cell Cancer

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Leiomyomatosis and Renal Cell Cancer:

62
id Symbol AA change Variation ID SNP ID
1FHp.Lys230ArgVAR_002445
2FHp.Asn107ThrVAR_013497
3FHp.Ala117ProVAR_013498
4FHp.His180ArgVAR_013499
5FHp.Gln185ArgVAR_013500
6FHp.Arg233HisVAR_013501rs28933069
7FHp.Gly282ValVAR_013502
8FHp.Met328ArgVAR_013503

Expression for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

Search GEO for disease gene expression data for Hereditary Leiomyomatosis and Renal Cell Cancer.

Pathways for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

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4Cell Signaling Technology, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Hereditary Leiomyomatosis and Renal Cell Cancer according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1LDHA, FH
2
Hide members
9.1LDHA, FH
39.1LDHA, BNIP3

Compounds for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Hereditary Leiomyomatosis and Renal Cell Cancer according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glucose449.5BNIP3, THBS1
25fluorouracil449.3THBS1, BNIP3
35-aza-2deoxycytidine449.2BNIP3, THBS1
4agarose449.0LDHA, THBS1
5pyruvate448.8LDHA, FH
6lactate448.8LDHA, FH, BNIP3
7vegf448.6BNIP3, THBS1, LDHA
8nitric oxide44 11 2410.6LDHA, THBS1, BNIP3
9oxygen44 249.2LDHA, THBS1, FH, BNIP3

GO Terms for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

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16Gene Ontology
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Cellular components related to Hereditary Leiomyomatosis and Renal Cell Cancer according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.6LDHA, FH, BNIP3

Biological processes related to Hereditary Leiomyomatosis and Renal Cell Cancer according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to hypoxiaGO:0016669.3THBS1, BNIP3
2cellular metabolic processGO:0442378.8LDHA, FH

Products for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

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Sources for Hereditary Leiomyomatosis and Renal Cell Cancer

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet