MCID: LMY005
MIFTS: 51

Leiomyomatosis and Renal Cell Cancer malady

Genetic diseases, Rare diseases, Nephrological diseases, Skin diseases, Cancer diseases categories

Summaries for Leiomyomatosis and Renal Cell Cancer

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OMIM:45 Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by... (150800) more...

MalaCards based summary: Leiomyomatosis and Renal Cell Cancer, also known as hereditary leiomyomatosis and renal cell cancer, is related to uterine fibroid and leiomyomatosis, and has symptoms including abnormality of the musculature, neoplasm of the skin and pruritus. An important gene associated with Leiomyomatosis and Renal Cell Cancer is FH (fumarate hydratase), and among its related pathways are Glucose / Energy Metabolism and Citric acid cycle (TCA cycle). The compounds 5-aza-2deoxycytidine 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.

NIH Rare Diseases:41 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

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

GeneReviews summary for hlrcc

Aliases & Classifications for Leiomyomatosis and Renal Cell Cancer

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Leiomyomatosis and Renal Cell Cancer, Aliases & Descriptions:

Name: Leiomyomatosis and Renal Cell Cancer 45 10 21
Hereditary Leiomyomatosis and Renal Cell Cancer 45 19 41 21 47 60
Hlrcc 19 41 21 43 47
Multiple Cutaneous and Uterine Leiomyomas 41 20 47
Mcul 41 21 47
Hereditary Leiomyomatosis and Renal Cell Carcinoma 21 22
Leiomyomatosis and Renal Cell Cancer, Hereditary 41 20
Hereditary Leiomyomatosis with Renal Carcinoma 41 47
Familial Leiomyomatosis and Renal Cell Cancer 41 47
Familial Leiomyomatosis with Renal Carcinoma 41 47
Multiple Cutaneous and Uterine Leiomyomata 41 21
Hereditary Multiple Cutaneous Leiomyomas 41 47
 
Familial Multiple Cutaneous Leiomyomas 41 47
Familial Leiomyomatosis Cutis Et Uteri 41 47
Hereditary Leiomyomatosis 41 47
Leiomyomatosis Familial 41 22
Reed's Syndrome 41 21
Reed Syndrome 41 47
Lrcc 41 21
Mcl 41 21
Multiple Cutaneous Leiomyomata 41
Multiple Cutaneous Leiomyoma 21
Familial Leiomyomatosis 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
hereditary leiomyomatosis and renal cell cancer:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Elderly


External Ids:

OMIM45 150800
Orphanet47 523
ICD10 via Orphanet26 D23

Related Diseases for Leiomyomatosis and Renal Cell Cancer

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Diseases related to Leiomyomatosis and Renal Cell Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1uterine fibroid30.3FH, THBS1
2leiomyomatosis11.1
3kidney cancer10.5
4cerebritis10.3
5renal cell carcinoma10.3
6leiomyoma10.3
7myopathy10.3
8hypoxia10.3
9male infertility10.1
10infertility10.1
11myoma10.1
12night blindness skeletal anomalies unusual facies10.1
13night blindness - skeletal anomalies - dysmorphism10.1
14fumarase deficiency10.0
15fumarate hydratase deficiency10.0
16bladder cancer, somatic9.9FH, THBS1
17malignant glioma9.7THBS1, BNIP3
18breast cancer9.6LDHA, BNIP3, THBS1
19prostate cancer9.6FH, BNIP3, THBS1

Graphical network of diseases related to Leiomyomatosis and Renal Cell Cancer:



Diseases related to leiomyomatosis and renal cell cancer

Symptoms for Leiomyomatosis and Renal Cell Cancer

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Symptoms by clinical synopsis from OMIM:

150800

Clinical features from OMIM:

150800

Symptoms:

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

HPO human phenotypes related to Leiomyomatosis and Renal Cell Cancer:

(show all 16)
id Description Frequency HPO Source Accession
1 abnormality of the musculature hallmark (90%) HP:0003011
2 neoplasm of the skin hallmark (90%) HP:0008069
3 pruritus typical (50%) HP:0000989
4 cataract occasional (7.5%) HP:0000518
5 renal neoplasm occasional (7.5%) HP:0009726
6 uterine neoplasm occasional (7.5%) HP:0010784
7 vaginal neoplasm occasional (7.5%) HP:0100650
8 esophageal neoplasm occasional (7.5%) HP:0100751
9 cutaneous leiomyosarcoma rare (5%) HP:0006755
10 autosomal dominant inheritance HP:0000006
11 uterine leiomyoma HP:0000131
12 uterine leiomyosarcoma HP:0002891
13 decreased fumarate hydratase activity HP:0003536
14 incomplete penetrance HP:0003829
15 multiple cutaneous leiomyomas HP:0007437
16 cutaneous leiomyoma HP:0007620

Drugs & Therapeutics for Leiomyomatosis and Renal Cell Cancer

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Drug clinical trials:

Search ClinicalTrials for Leiomyomatosis and Renal Cell Cancer

Search NIH Clinical Center for Leiomyomatosis and Renal Cell Cancer

Genetic Tests for Leiomyomatosis and Renal Cell Cancer

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Genetic tests related to Leiomyomatosis and Renal Cell Cancer:

id Genetic test Affiliating Genes
1 Hereditary Leiomyomatosis and Renal Cell Cancer20 22 FH
2 Multiple Cutaneous and Uterine Leiomyomas20 FH
3 Leiomyomatosis Familial22

Anatomical Context for Leiomyomatosis and Renal Cell Cancer

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

31
Uterus, Skin, Kidney, Smooth muscle, Cervix

Animal Models for Leiomyomatosis and Renal Cell Cancer or affiliated genes

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MGI Mouse Phenotypes related to Leiomyomatosis and Renal Cell Cancer:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0FH, LDHA, BNIP3, THBS1

Publications for Leiomyomatosis and Renal Cell Cancer

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Articles related to Leiomyomatosis and Renal Cell Cancer:

(show all 32)
idTitleAuthorsYear
1
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. (25012257)
2014
2
Myopathy in hereditary leiomyomatosis and renal cell cancer in an extended family. (25354562)
2014
3
Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. (25292446)
2014
4
Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer. (22982371)
2013
5
Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. (22565324)
2012
6
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance. (22086304)
2012
7
Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. (22127509)
2012
8
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
9
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
10
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. (20618355)
2011
11
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. (21404119)
2011
12
A case report of hereditary leiomyomatosis and renal cell cancer. (20510956)
2010
13
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? (19183174)
2009
14
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
15
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer. (19276158)
2009
16
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). (17908262)
2008
17
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)
2008
18
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. (19075141)
2008
19
Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. (17287871)
2007
20
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer. (17383644)
2007
21
Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. (17509289)
2007
22
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. (17392716)
2007
23
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation. (17034471)
2006
24
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. (16597677)
2006
25
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. (15937070)
2006
26
Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer. (16948378)
2006
27
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. (16237213)
2005
28
Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome. (15586379)
2005
29
Hereditary leiomyomatosis and renal cell cancer (HLRCC). (15579034)
2004
30
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. (12772087)
2003
31
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. (12183404)
2002
32
Hereditary Leiomyomatosis and Renal Cell Cancer (20301430)
1993

Variations for Leiomyomatosis and Renal Cell Cancer

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UniProtKB/Swiss-Prot genetic disease variations for 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

Clinvar genetic disease variations for Leiomyomatosis and Renal Cell Cancer:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FHNM_000143.3(FH): c.301C> T (p.Arg101Ter)single nucleotide variantPathogenicrs121913120GRCh37Chr 1, 241676980: 241676980
2FHFH, 2-BP DELdeletionPathogenic
3FHNM_000143.3(FH): c.1027C> T (p.Arg343Ter)single nucleotide variantPathogenicrs121913122GRCh37Chr 1, 241667423: 241667423
4FHNM_000143.3(FH): c.698G> A (p.Arg233His)single nucleotide variantPathogenicrs121913123GRCh37Chr 1, 241671943: 241671943
5FHNM_000143.3(FH): c.698G> T (p.Arg233Leu)single nucleotide variantPathogenicrs121913123GRCh37Chr 1, 241671943: 241671943
6FHNM_000143.3(FH): c.302G> C (p.Arg101Pro)single nucleotide variantPathogenicrs75086406GRCh37Chr 1, 241676979: 241676979
7FHNM_000143.3(FH): c.320A> C (p.Asn107Thr)single nucleotide variantPathogenicrs121913121GRCh37Chr 1, 241676961: 241676961

Cosmic variations for Leiomyomatosis and Renal Cell Cancer:

7 (show all 45)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1690METkidney,NS,carcinoma,papillary renal cell carcinoma3
2704METkidney,NS,carcinoma,papillary renal cell carcinoma3
3698METkidney,NS,carcinoma,papillary renal cell carcinoma3
4689METkidney,NS,carcinoma,papillary renal cell carcinoma3
5484661METkidney,NS,carcinoma,papillary renal cell carcinoma3
6697METkidney,NS,carcinoma,papillary renal cell carcinoma3
7696METkidney,NS,carcinoma,papillary renal cell carcinoma3
8688METkidney,NS,carcinoma,papillary renal cell carcinoma3
9691METkidney,NS,carcinoma,papillary renal cell carcinoma3
1017807VHLkidney,NS,carcinoma,papillary renal cell carcinoma3
1114311VHLkidney,NS,carcinoma,papillary renal cell carcinoma3
1218346VHLkidney,NS,carcinoma,papillary renal cell carcinoma3
1317808VHLkidney,NS,carcinoma,papillary renal cell carcinoma3
1430286VHLkidney,NS,carcinoma,papillary renal cell carcinoma3
1525673VHLkidney,NS,carcinoma,papillary renal cell carcinoma3
1610709TP53kidney,NS,carcinoma,papillary renal cell carcinoma3
1743697TP53kidney,NS,carcinoma,papillary renal cell carcinoma3
1843850TP53kidney,NS,carcinoma,papillary renal cell carcinoma3
19760PIK3CAkidney,NS,carcinoma,papillary renal cell carcinoma3
20763PIK3CAkidney,NS,carcinoma,papillary renal cell carcinoma3
21718FGFR3kidney,NS,carcinoma,papillary renal cell carcinoma3
223993568FGFR3kidney,NS,carcinoma,papillary renal cell carcinoma3
23462BRAFkidney,NS,carcinoma,papillary renal cell carcinoma3
241131BRAFkidney,NS,carcinoma,papillary renal cell carcinoma3
2521945EGFRkidney,NS,carcinoma,papillary renal cell carcinoma3
2614060ERBB2kidney,NS,carcinoma,papillary renal cell carcinoma3
271583146DNMT3Akidney,NS,carcinoma,papillary renal cell carcinoma3
281181978ADARB1kidney,NS,carcinoma,papillary renal cell carcinoma3
29742462GFRALkidney,NS,carcinoma,papillary renal cell carcinoma3
30375283ANKHD1-EIF4EBP3kidney,NS,carcinoma,papillary renal cell carcinoma3
31274461CDC73kidney,NS,carcinoma,papillary renal cell carcinoma3
32302052DHX9kidney,NS,carcinoma,papillary renal cell carcinoma3
33375284ANKHD1kidney,NS,carcinoma,papillary renal cell carcinoma3
34964299MAP2K5kidney,NS,carcinoma,papillary renal cell carcinoma3
35485065RHEBkidney,NS,carcinoma,papillary renal cell carcinoma3
361222993RAD23Bkidney,NS,carcinoma,papillary renal cell carcinoma3
37487039SCAIkidney,NS,carcinoma,papillary renal cell carcinoma3
38110414SMARCB1kidney,NS,carcinoma,papillary renal cell carcinoma3
391268384TP63kidney,NS,carcinoma,papillary renal cell carcinoma3
401360764SOX5kidney,NS,carcinoma,papillary renal cell carcinoma3
415260PTENkidney,NS,carcinoma,papillary renal cell carcinoma3
42485575PMS2P11kidney,NS,carcinoma,papillary renal cell carcinoma3
43521KRASkidney,NS,carcinoma,papillary renal cell carcinoma3
44188258HIVEP3kidney,NS,carcinoma,papillary renal cell carcinoma3
45163384PDGFRAkidney,NS,carcinoma,papillary renal cell carcinoma3

Expression for genes affiliated with Leiomyomatosis and Renal Cell Cancer

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

Pathways for genes affiliated with Leiomyomatosis and Renal Cell Cancer

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Pathways related to Leiomyomatosis and Renal Cell Cancer according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1FH, LDHA
2
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36
9.1FH, LDHA
39.1LDHA, BNIP3

Compounds for genes affiliated with Leiomyomatosis and Renal Cell Cancer

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Compounds related to Leiomyomatosis and Renal Cell Cancer according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
15-aza-2deoxycytidine439.5BNIP3, THBS1
25fluorouracil439.4BNIP3, THBS1
3sb 20358043 5910.3THBS1, BNIP3
4paclitaxel43 49 1211.3BNIP3, THBS1
5pyruvate439.2FH, LDHA
6agarose439.2THBS1, LDHA
7lactate438.8BNIP3, LDHA, FH
8nadh43 24 1210.8FH, LDHA
9vegf438.7LDHA, BNIP3, THBS1
10nitric oxide43 24 1210.7LDHA, BNIP3, THBS1
11tyrosine438.4FH, LDHA, THBS1
12oxygen43 249.3FH, LDHA, BNIP3, THBS1
13glucose438.2FH, LDHA, BNIP3, THBS1

GO Terms for genes affiliated with Leiomyomatosis and Renal Cell Cancer

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Cellular components related to Leiomyomatosis and Renal Cell Cancer according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:00700628.5FH, LDHA, THBS1
2mitochondrionGO:00057398.3FH, LDHA, BNIP3

Biological processes related to Leiomyomatosis and Renal Cell Cancer according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to hypoxiaGO:00016669.3BNIP3, THBS1
2cellular metabolic processGO:00442378.8FH, LDHA

Products for genes affiliated with Leiomyomatosis and Renal Cell Cancer

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Sources for Leiomyomatosis and Renal Cell Cancer

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet