MCID: LMY005
MIFTS: 53

Leiomyomatosis and Renal Cell Cancer malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Skin diseases, Cancer diseases

Aliases & Classifications for Leiomyomatosis and Renal Cell Cancer

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Aliases & Descriptions for Leiomyomatosis and Renal Cell Cancer:

Name: Leiomyomatosis and Renal Cell Cancer 51 25 12
Hereditary Leiomyomatosis and Renal Cell Cancer 51 23 47 24 25 53 69 67
Hlrcc 23 47 24 25 53 69 49
Multiple Cutaneous and Uterine Leiomyomata 47 25 69
Lrcc 47 25 69
Mcul 47 25 53
Mcl 47 25 69
Hereditary Leiomyomatosis and Renal Cell Carcinoma 24 25
Leiomyomatosis and Renal Cell Cancer Hereditary 69 26
Leiomyoma Multiple Cutaneous 69 26
Leiomyomatosis Familial 47 26
Reed's Syndrome 47 25
Multiple Cutaneous and Uterine Leiomyomata 1 with or Without Renal Cell Carcinoma 69
 
Hereditary Leiomyomatosis with Renal Carcinoma 53
Familial Leiomyomatosis and Renal Cell Cancer 53
Familial Leiomyomatosis with Renal Carcinoma 53
Multiple Cutaneous and Uterine Leiomyomas 53
Hereditary Multiple Cutaneous Leiomyomas 53
Familial Multiple Cutaneous Leiomyomas 53
Familial Leiomyomatosis Cutis Et Uteri 53
Multiple Cutaneous Leiomyomata 47
Multiple Cutaneous Leiomyoma 25
Hereditary Leiomyomatosis 53
Familial Leiomyomatosis 47
Reed Syndrome 53
Mcul1 69

Characteristics:

Orphanet epidemiological data:

53
hereditary leiomyomatosis and renal cell cancer:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Elderly

HPO:

63
leiomyomatosis and renal cell cancer:
Inheritance: autosomal dominant inheritance
Onset and clinical course: incomplete penetrance

GeneReviews:

23
Penetrance: based on three major clinical manifestations, penetrance of hlrcc is considered to be very high. however, an asymptomatic individual who was an obligate heterozygote for a fh pathogenic variant in one family has been reported [gardie et al 2011]...


Classifications:



External Ids:

OMIM51 150800
Orphanet53 ORPHA523
ICD10 via Orphanet30 C64
MeSH38 D018231

Summaries for Leiomyomatosis and Renal Cell Cancer

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OMIM:51 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 renal cell carcinoma and multiple cutaneous and uterine leiomyomas, 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 Citrate cycle (TCA cycle) and Pyruvate metabolism. Affiliated tissues include uterus, kidney and skin, and related mouse phenotype cardiovascular system.

Genetics Home Reference:25 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:47 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

UniProtKB/Swiss-Prot:69 Hereditary leiomyomatosis and renal cell cancer: A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.

Wikipedia:70 Reed’s syndrome (or familial leiomyomatosis cutis et uteri) is a rare inherited condition... more...

GeneReviews for NBK1252

Related Diseases for Leiomyomatosis and Renal Cell Cancer

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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

Human phenotypes related to Leiomyomatosis and Renal Cell Cancer:

 63 53 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the musculature63 53 hallmark (90%) Very frequent (99-80%) HP:0003011
2 neoplasm of the skin63 hallmark (90%) HP:0008069
3 pruritus63 53 typical (50%) Frequent (79-30%) HP:0000989
4 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
5 uterine neoplasm63 occasional (7.5%) HP:0010784
6 vaginal neoplasm63 53 occasional (7.5%) Occasional (29-5%) HP:0100650
7 esophageal neoplasm63 53 occasional (7.5%) Occasional (29-5%) HP:0100751
8 cutaneous leiomyosarcoma63 rare (5%) HP:0006755
9 uterine leiomyoma63 53 Occasional (29-5%) HP:0000131
10 uterine leiomyosarcoma63 53 Occasional (29-5%) HP:0002891
11 decreased fumarate hydratase activity63 HP:0003536
12 renal cell carcinoma63 HP:0005584
13 multiple cutaneous leiomyomas63 53 Very frequent (99-80%) HP:0007437
14 cutaneous leiomyoma63 53 Very frequent (99-80%) HP:0007620
15 papillary renal cell carcinoma type 253 Occasional (29-5%)
16 barrett esophagus53 Occasional (29-5%)

UMLS symptoms related to Leiomyomatosis and Renal Cell Cancer:


flank pain

Drugs & Therapeutics for Leiomyomatosis and Renal Cell Cancer

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Drugs for Leiomyomatosis and Renal Cell Cancer (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineapprovedPhase 277651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2
Bevacizumabapproved, investigationalPhase 21968216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
3
MetforminapprovedPhase 1, Phase 21746657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
4abobotulinumtoxinAPhase 2626
5Peripheral Nervous System AgentsPhase 222776
6Neurotransmitter AgentsPhase 217734
7onabotulinumtoxinAPhase 2626
8Botulinum Toxins, Type APhase 2630
9Neuromuscular AgentsPhase 21129
10Botulinum ToxinsPhase 2669
11incobotulinumtoxinAPhase 2635
12Cholinergic AgentsPhase 23846
13Hypoglycemic AgentsPhase 1, Phase 25733
14Protein Kinase InhibitorsPhase 23612
15Angiogenesis Modulating AgentsPhase 24072
16Angiogenesis InhibitorsPhase 24143
17
Erlotinib HydrochloridePhase 2798183319-69-9176871
Synonyms:
 
erlotinib hydrochloride

Interventional clinical trials:

idNameStatusNCT IDPhase
1Randomized Pilot Study for the Treatment of Cutaneous Leiomyomas With Botulinum ToxinCompletedNCT00971620Phase 2
2A Phase II Study of Bevacizumab and Erlotinib in Subjects With Advanced Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) or Sporadic Papillary Renal Cell CancerRecruitingNCT01130519Phase 2
3Vandetanib in Combination With Metformin in People With HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell CarcinomaRecruitingNCT02495103Phase 1, Phase 2
4Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal CancerRecruitingNCT00050752
5French National Registry of Rare Peritoneal Surface MalignanciesActive, not recruitingNCT02834169

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 Cancer26 24 FH
2 Multiple Cutaneous Leiomyomas26
3 Leiomyomatosis Familial26

Anatomical Context for Leiomyomatosis and Renal Cell Cancer

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

35
Uterus, Kidney, Skin, Smooth muscle, Lymph node

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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.5BNIP3, HIF1A, LDHA, NFE2L2, SDHB

Publications for Leiomyomatosis and Renal Cell Cancer

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Articles related to Leiomyomatosis and Renal Cell Cancer:

(show all 41)
idTitleAuthorsYear
1
Loss of Fumarate Hydratase and Aberrant Protein Succination Detected With S-(2-Succino)-Cysteine Staining to Identify Patients With Multiple Cutaneous and Uterine Leiomyomatosis and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. (27097334)
2016
2
Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report. (26983443)
2016
3
First Presentation of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Pregnancy. (26902252)
2016
4
Hereditary leiomyomatosis and renal cell cancer syndrome: identification and clinical characterization of a novel mutation in the FH gene in a Colombian family. (27566483)
2016
5
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer. (26493120)
2015
6
Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia typeA 1 (HT1). (26551707)
2015
7
Hereditary leiomyomatosis and renal cell cancer syndrome. (26323704)
2015
8
Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion? (26380143)
2015
9
Case 221: Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. (26302393)
2015
10
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. (25012257)
2014
11
Myopathy in hereditary leiomyomatosis and renal cell cancer in an extended family. (25354562)
2014
12
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
13
Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer. (22982371)
2013
14
Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. (22127509)
2012
15
Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. (22565324)
2012
16
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance. (22086304)
2012
17
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
18
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. (21404119)
2011
19
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
20
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. (20618355)
2011
21
A case report of hereditary leiomyomatosis and renal cell cancer. (20510956)
2010
22
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? (19183174)
2009
23
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
24
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer. (19276158)
2009
25
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). (17908262)
2008
26
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. (19075141)
2008
27
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
28
Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. (17287871)
2007
29
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer. (17383644)
2007
30
Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. (17509289)
2007
31
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. (17392716)
2007
32
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation. (17034471)
2006
33
Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer. (16948378)
2006
34
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. (16597677)
2006
35
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. (15937070)
2006
36
Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome. (15586379)
2005
37
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. (16237213)
2005
38
Hereditary leiomyomatosis and renal cell cancer (HLRCC). (15579034)
2004
39
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. (12772087)
2003
40
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. (12183404)
2002
41
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:

69
id Symbol AA change Variation ID SNP ID
1FHp.Lys230ArgVAR_002445rs752232718
2FHp.Asn107ThrVAR_013497rs121913121
3FHp.Ala117ProVAR_013498
4FHp.His180ArgVAR_013499rs863224015
5FHp.Gln185ArgVAR_013500rs779707997
6FHp.Arg233HisVAR_013501rs28933069
7FHp.Gly282ValVAR_013502
8FHp.Met328ArgVAR_013503

Clinvar genetic disease variations for Leiomyomatosis and Renal Cell Cancer:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1FHNM_000143.3(FH): c.697C> T (p.Arg233Cys)SNVPathogenicrs587781682GRCh37Chr 1, 241671944: 241671944
2FHNM_000143.3(FH): c.301C> T (p.Arg101Ter)SNVPathogenicrs121913120GRCh37Chr 1, 241676980: 241676980
3FHNM_000143.3(FH): c.671_672delAG (p.Glu224Valfs)deletionPathogenicrs780001199GRCh37Chr 1, 241671969: 241671970
4FHNM_000143.3(FH): c.1027C> T (p.Arg343Ter)SNVPathogenicrs121913122GRCh37Chr 1, 241667423: 241667423
5FHNM_000143.3(FH): c.698G> A (p.Arg233His)SNVPathogenicrs121913123GRCh37Chr 1, 241671943: 241671943
6FHNM_000143.3(FH): c.698G> T (p.Arg233Leu)SNVPathogenicrs121913123GRCh37Chr 1, 241671943: 241671943
7FHNM_000143.3(FH): c.302G> C (p.Arg101Pro)SNVPathogenicrs75086406GRCh37Chr 1, 241676979: 241676979
8FHNM_000143.3(FH): c.1067T> A (p.Leu356Ter)SNVLikely pathogenic, Pathogenicrs727503927GRCh38Chr 1, 241504083: 241504083
9FHNM_000143.3(FH): c.556-1G> CSNVPathogenicrs794727698GRCh37Chr 1, 241672086: 241672086
10FHNM_000143.3(FH): c.912_918delTTTTGTC (p.Phe305Leufs)deletionPathogenicrs794727836GRCh37Chr 1, 241667532: 241667538
11FHNM_000143.3(FH): c.905-1G> ASNVPathogenicrs797044973GRCh38Chr 1, 241504246: 241504246
12FHNM_000143.3(FH): c.1210G> T (p.Glu404Ter)SNVPathogenicrs797044974GRCh38Chr 1, 241502469: 241502469
13FHNM_000143.3(FH): c.521C> G (p.Pro174Arg)SNVLikely pathogenic, Pathogenicrs199822819GRCh37Chr 1, 241675301: 241675301
14FHNM_000143.3(FH): c.320A> C (p.Asn107Thr)SNVPathogenicrs121913121GRCh37Chr 1, 241676961: 241676961

Cosmic variations for Leiomyomatosis and Renal Cell Cancer:

8 (show top 50)    (show all 277)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM132853NFE2L2kidney,NS,carcinoma,Type 2c.245A>Gp.E82G9
2COSM691METkidney,NS,carcinoma,papillary renal cell carcinomac.3803T>Cp.M1268T8
3COSM43920TP53skin,face,carcinoma,NSc.680C>Tp.S227F8
4COSM5011046COL6A3kidney,NS,carcinoma,papillary renal cell carcinomac.5464G>Ap.E1822K8
5COSM266367DDX54kidney,NS,carcinoma,papillary renal cell carcinomac.1543G>Ap.A515T8
6COSM10705TP53skin,face,carcinoma,NSc.586C>Tp.R196*8
7COSM10654TP53skin,face,carcinoma,NSc.637C>Tp.R213*8
8COSM14464PTCH1skin,face,carcinoma,NSc.1804C>Tp.R602*8
9COSM4760527KSR2kidney,NS,carcinoma,papillary renal cell carcinomac.1679C>Tp.T560M8
10COSM45774TP53skin,arm,carcinoma,NSc.899C>Gp.P300R8
11COSM5015023ATG2Akidney,NS,carcinoma,papillary renal cell carcinomac.5740G>Ap.G1914S8
12COSM5013688H1F0kidney,NS,carcinoma,papillary renal cell carcinomac.68C>Tp.T23I8
13COSM11084TP53skin,face,carcinoma,NSc.517G>Ap.V173M8
14COSM30383KMT2Dkidney,NS,carcinoma,papillary renal cell carcinomac.6185C>Tp.T2062I8
15COSM5012458SLC6A12kidney,NS,carcinoma,papillary renal cell carcinomac.1451A>Gp.N484S8
16COSM3121317CASRkidney,NS,carcinoma,papillary renal cell carcinomac.2590C>Tp.P864S8
17COSM10662TP53skin,face,carcinoma,NSc.743G>Ap.R248Q8
18COSM5012862RTF1kidney,NS,carcinoma,papillary renal cell carcinomac.1725G>Tp.L575F8
19COSM5012058ZNF462kidney,NS,carcinoma,papillary renal cell carcinomac.7085G>Ap.R2362Q8
20COSM29055PTCH1skin,face,carcinoma,NSc.2050G>Tp.E684*8
21COSM44097TP53skin,face,carcinoma,NSc.530C>Tp.P177L8
22COSM29048PTCH1skin,face,carcinoma,NSc.1347+1G>Ap.?8
23COSM5010455AGRNkidney,NS,carcinoma,papillary renal cell carcinomac.4646G>Tp.G1549V8
24COSM5017225KMT2Akidney,NS,carcinoma,papillary renal cell carcinomac.6911A>Tp.K2304M8
25COSM5011074TOP2Bkidney,NS,carcinoma,papillary renal cell carcinomac.2758C>Ap.Q920K8
26COSM10988TP53skin,face,carcinoma,NSc.772G>Ap.E258K8
27COSM44435TP53skin,face,carcinoma,NSc.96+1G>Ap.?8
28COSM5014755REPIN1kidney,NS,carcinoma,papillary renal cell carcinomac.664G>Ap.V222M8
29COSM5014655ZBTB2kidney,NS,carcinoma,papillary renal cell carcinomac.931G>Ap.E311K8
30COSM43697TP53kidney,NS,carcinoma,papillary renal cell carcinomac.832C>Ap.P278T8
31COSM43588TP53skin,face,carcinoma,NSc.740A>Cp.N247T8
32COSM20754ATMkidney,NS,carcinoma,papillary renal cell carcinomac.4407T>Gp.I1469M8
33COSM520KRASskin,face,carcinoma,NSc.35G>Tp.G12V8
34COSM564NRASskin,face,carcinoma,NSc.35G>Ap.G12D8
35COSM10728TP53skin,face,carcinoma,NSc.839G>Ap.R280K8
36COSM5015634ARHGAP35kidney,NS,carcinoma,papillary renal cell carcinomac.481C>Tp.L161F8
37COSM1208713GPR39kidney,NS,carcinoma,papillary renal cell carcinomac.1192C>Tp.R398C8
38COSM5010858BIN1kidney,NS,carcinoma,papillary renal cell carcinomac.214G>Ap.V72I8
39COSM3724576METkidney,NS,carcinoma,papillary renal cell carcinomac.3616G>Tp.V1206L8
40COSM585NRASskin,face,carcinoma,NSc.183A>Tp.Q61H8
41COSM29071PTCH1skin,face,carcinoma,NSc.3549+5G>Ap.?8
42COSM5010844GPAT2kidney,NS,carcinoma,papillary renal cell carcinomac.2023T>Cp.F675L8
43COSM689METkidney,NS,carcinoma,papillary renal cell carcinomac.3736G>Cp.D1246H8
44COSM5015402LDHDkidney,NS,carcinoma,papillary renal cell carcinomac.797C>Gp.P266R8
45COSM144244PTCH1skin,face,carcinoma,NSc.994A>Tp.R332*8
46COSM2231836NOTCH2NLkidney,NS,carcinoma,papillary renal cell carcinomac.403T>Gp.F135V8
47COSM17600PTCH1skin,face,carcinoma,NSc.2207C>Tp.A736V8
48COSM5014999SLC39A13kidney,NS,carcinoma,papillary renal cell carcinomac.956G>Ap.G319D8
49COSM17547PTCH1skin,face,carcinoma,NSc.1511C>Ap.P504Q8
50COSM17495PTCH1skin,face,carcinoma,NSc.1229G>Ap.S410N8

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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GO Terms for genes affiliated with Leiomyomatosis and Renal Cell Cancer

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1lactate metabolic processGO:00060899.8HIF1A, LDHA
2tricarboxylic acid cycleGO:00060999.8FH, SDHB
3negative regulation of cell deathGO:00605489.8BNIP3, NFE2L2
4cellular response to cobalt ionGO:00712799.7BNIP3, HIF1A
5regulation of aerobic respirationGO:19037159.7BNIP3, HIF1A
6negative regulation of reactive oxygen species metabolic processGO:20003789.6BNIP3, HIF1A
7cellular response to mechanical stimulusGO:00712609.5BNIP3, HIF1A
8positive regulation of autophagyGO:00105089.5BNIP3, HIF1A
9positive regulation of macroautophagyGO:00162399.5BNIP3, HIF1A
10response to estrogenGO:00436279.5HIF1A, LDHA
11positive regulation of angiogenesisGO:00457669.3HIF1A, NFE2L2
12cellular response to drugGO:00356909.1HIF1A, NFE2L2
13cellular response to hydrogen peroxideGO:00703018.8BNIP3, HIF1A, NFE2L2
14positive regulation of apoptotic processGO:00430658.7BNIP3, HIF1A, LDHA
15response to hypoxiaGO:00016668.6BNIP3, HIF1A, LDHA
16cellular response to hypoxiaGO:00714568.5BNIP3, HIF1A, NFE2L2

Sources for Leiomyomatosis and Renal Cell Cancer

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet