MCID: LMY005
MIFTS: 50

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 50 24 12
Hereditary Leiomyomatosis and Renal Cell Cancer 50 22 46 23 24 52 68 66
Hlrcc 22 46 23 24 52 68 48
Multiple Cutaneous and Uterine Leiomyomata 46 24 68
Mcul 46 24 52
Lrcc 46 24 68
Mcl 46 24 68
Hereditary Leiomyomatosis and Renal Cell Carcinoma 23 24
Leiomyomatosis and Renal Cell Cancer Hereditary 68 25
Leiomyoma Multiple Cutaneous 68 25
Leiomyomatosis Familial 46 25
Reed's Syndrome 46 24
Multiple Cutaneous and Uterine Leiomyomata 1 with or Without Renal Cell Carcinoma 68
 
Hereditary Leiomyomatosis with Renal Carcinoma 52
Familial Leiomyomatosis and Renal Cell Cancer 52
Familial Leiomyomatosis with Renal Carcinoma 52
Multiple Cutaneous and Uterine Leiomyomas 52
Hereditary Multiple Cutaneous Leiomyomas 52
Familial Leiomyomatosis Cutis Et Uteri 52
Familial Multiple Cutaneous Leiomyomas 52
Multiple Cutaneous Leiomyomata 46
Multiple Cutaneous Leiomyoma 24
Hereditary Leiomyomatosis 52
Familial Leiomyomatosis 46
Reed Syndrome 52
Mcul1 68

Characteristics:

Orphanet epidemiological data:

52
hereditary leiomyomatosis and renal cell cancer:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Elderly

HPO:

62
leiomyomatosis and renal cell cancer:
Inheritance: autosomal dominant inheritance
Onset and clinical course: incomplete penetrance


Classifications:



External Ids:

OMIM50 150800
Orphanet52 ORPHA523
ICD10 via Orphanet29 C64
MeSH37 D018231

Summaries for Leiomyomatosis and Renal Cell Cancer

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OMIM:50 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 multiple cutaneous and uterine leiomyomas 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 HIF-1-alpha transcription factor network and Glucose / Energy Metabolism. Affiliated tissues include uterus, kidney and skin.

Genetics Home Reference:24 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:46 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:68 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:69 Reed’s syndrome (or familial leiomyomatosis cutis et uteri) is a rare inherited condition... more...

GeneReviews summary for NBK1252

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 12)
idRelated DiseaseScoreTop Affiliating Genes
1multiple cutaneous and uterine leiomyomas11.2
2leiomyomatosis10.7
3renal cell carcinoma, papillary10.1
4renal cell carcinoma10.1
5leiomyoma10.1
6kidney cancer10.1
7uterine fibroid9.9
8myopathy9.9
9tyrosinemia9.9
10hypoxia9.9
11vulvar leiomyoma9.4FH, LDHA
12leiomyomatosis and renal cell cancer8.6BNIP3, FH, LDHA

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:

 52 (show all 11)
  • uterine leiomyoma
  • cataract
  • pruritus
  • uterine leiomyosarcoma
  • abnormality of the musculature
  • papillary renal cell carcinoma type 2
  • multiple cutaneous leiomyomas
  • cutaneous leiomyoma
  • barrett esophagus
  • vaginal neoplasm
  • esophageal neoplasm

HPO human phenotypes related to Leiomyomatosis and Renal Cell Cancer:

(show all 14)
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 uterine neoplasm occasional (7.5%) HP:0010784
6 vaginal neoplasm occasional (7.5%) HP:0100650
7 esophageal neoplasm occasional (7.5%) HP:0100751
8 cutaneous leiomyosarcoma rare (5%) HP:0006755
9 uterine leiomyoma HP:0000131
10 uterine leiomyosarcoma HP:0002891
11 decreased fumarate hydratase activity HP:0003536
12 renal cell carcinoma HP:0005584
13 multiple cutaneous leiomyomas HP:0007437
14 cutaneous leiomyoma HP:0007620

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholinePhase 275251-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2
MetforminPhase 1, Phase 21701657-24-914219, 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
3
BevacizumabPhase 21938216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
4
erlotinib hydrochloridePhase 2793183319-69-9176871
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 Cancer25 23 FH
2 Multiple Cutaneous Leiomyomas25
3 Leiomyomatosis Familial25

Anatomical Context for Leiomyomatosis and Renal Cell Cancer

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

34
Uterus, Kidney, Skin, Smooth muscle, Lymph node

Animal Models for Leiomyomatosis and Renal Cell Cancer or affiliated genes

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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:

68
id Symbol AA change Variation ID SNP ID
1FHp.Lys230ArgVAR_002445rs752232718
2FHp.Asn107ThrVAR_013497rs121913121
3FHp.Ala117ProVAR_013498
4FHp.His180ArgVAR_013499
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 13)
id Gene Variation Type Significance SNP ID Assembly Location
1FHNM_000143.3(FH): c.697C> T (p.Arg233Cys)single nucleotide variantPathogenicrs587781682GRCh37Chr 1, 241671944: 241671944
2FHNM_000143.3(FH): c.301C> T (p.Arg101Ter)single nucleotide variantPathogenicrs121913120GRCh37Chr 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)single nucleotide variantPathogenicrs121913122GRCh37Chr 1, 241667423: 241667423
5FHNM_000143.3(FH): c.698G> A (p.Arg233His)single nucleotide variantPathogenicrs121913123GRCh37Chr 1, 241671943: 241671943
6FHNM_000143.3(FH): c.698G> T (p.Arg233Leu)single nucleotide variantPathogenicrs121913123GRCh37Chr 1, 241671943: 241671943
7FHNM_000143.3(FH): c.302G> C (p.Arg101Pro)single nucleotide variantPathogenicrs75086406GRCh37Chr 1, 241676979: 241676979
8FHNM_000143.3(FH): c.1067T> A (p.Leu356Ter)single nucleotide variantLikely pathogenic, Pathogenicrs727503927GRCh38Chr 1, 241504083: 241504083
9FHNM_000143.3(FH): c.556-1G> Csingle nucleotide variantPathogenicrs794727698GRCh37Chr 1, 241672086: 241672086
10FHNM_000143.3(FH): c.912_918delTTTTGTC (p.Phe305Leufs)deletionPathogenicrs794727836GRCh37Chr 1, 241667532: 241667538
11FHNM_000143.3(FH): c.905-1G> Asingle nucleotide variantPathogenicrs797044973GRCh38Chr 1, 241504246: 241504246
12FHNM_000143.3(FH): c.1210G> T (p.Glu404Ter)single nucleotide variantPathogenicrs797044974GRCh38Chr 1, 241502469: 241502469
13FHNM_000143.3(FH): c.320A> C (p.Asn107Thr)single nucleotide variantPathogenicrs121913121GRCh37Chr 1, 241676961: 241676961

Cosmic variations for Leiomyomatosis and Renal Cell Cancer:

8 (show top 50)    (show all 274)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM3724575METkidney,NS,carcinoma,papillary renal cell carcinomac.3538C>Tp.H1180Y0
2COSM498HRASskin,face,carcinoma,NSc.182A>Tp.Q61L0
3COSM5017216FESkidney,NS,carcinoma,papillary renal cell carcinomac.17A>Gp.E6G0
4COSM696METkidney,NS,carcinoma,papillary renal cell carcinomac.3334C>Tp.H1112Y0
5COSM5011540GALNT10kidney,NS,carcinoma,papillary renal cell carcinomac.253C>Ap.Q85K0
6COSM585NRASskin,face,carcinoma,NSc.183A>Tp.Q61H0
7COSM44241TP53skin,face,carcinoma,NSc.592G>Tp.E198*0
8COSM4267939MAPTkidney,NS,carcinoma,papillary renal cell carcinomac.1228C>Tp.L410F0
9COSM5012801FLRT2kidney,NS,carcinoma,papillary renal cell carcinomac.1960G>Ap.D654N0
10COSM564NRASskin,face,carcinoma,NSc.35G>Ap.G12D0
11COSM17467PTCH1skin,face,carcinoma,NSc.1726C>Tp.Q576*0
12COSM17522PTCH1skin,face,carcinoma,NSc.3586C>Tp.P1196S0
13COSM5014650STXBP5kidney,NS,carcinoma,papillary renal cell carcinomac.2581C>Tp.R861W0
14COSM704METkidney,NS,carcinoma,papillary renal cell carcinomac.3446T>Cp.M1149T0
15COSM29033PTCH1skin,face,carcinoma,NSc.2038G>Tp.E680*0
16COSM17519PTCH1skin,face,carcinoma,NSc.463C>Tp.P155S0
17COSM5015412COX4I1kidney,NS,carcinoma,papillary renal cell carcinomac.482A>Tp.D161V0
18COSM5014245SOWAHCkidney,NS,carcinoma,papillary renal cell carcinomac.782C>Tp.S261F0
19COSM5011123CACNA1Dkidney,NS,carcinoma,papillary renal cell carcinomac.1783T>Cp.Y595H0
20COSM14464PTCH1skin,face,carcinoma,NSc.1804C>Tp.R602*0
21COSM5015023ATG2Akidney,NS,carcinoma,papillary renal cell carcinomac.5740G>Ap.G1914S0
22COSM5011046COL6A3kidney,NS,carcinoma,papillary renal cell carcinomac.5464G>Ap.E1822K0
23COSM44435TP53skin,face,carcinoma,NSc.96+1G>Ap.?0
24COSM30383KMT2Dkidney,NS,carcinoma,papillary renal cell carcinomac.6185C>Tp.T2062I0
25COSM5014755REPIN1kidney,NS,carcinoma,papillary renal cell carcinomac.664G>Ap.V222M0
26COSM5012458SLC6A12kidney,NS,carcinoma,papillary renal cell carcinomac.1451A>Gp.N484S0
27COSM5011074TOP2Bkidney,NS,carcinoma,papillary renal cell carcinomac.2758C>Ap.Q920K0
28COSM5010455AGRNkidney,NS,carcinoma,papillary renal cell carcinomac.4646G>Tp.G1549V0
29COSM29048PTCH1skin,face,carcinoma,NSc.1347+1G>Ap.?0
30COSM1208713GPR39kidney,NS,carcinoma,papillary renal cell carcinomac.1192C>Tp.R398C0
31COSM5010844GPAT2kidney,NS,carcinoma,papillary renal cell carcinomac.2023T>Cp.F675L0
32COSM5015402LDHDkidney,NS,carcinoma,papillary renal cell carcinomac.797C>Gp.P266R0
33COSM10656TP53skin,face,carcinoma,NSc.742C>Tp.R248W0
34COSM43582TP53skin,face,carcinoma,NSc.454C>Tp.P152S0
35COSM5013149CCR7kidney,NS,carcinoma,papillary renal cell carcinomac.850C>Ap.L284M0
36COSM17584PTCH1skin,face,carcinoma,NSc.2105C>Tp.P702L0
37COSM5017261NOS2kidney,NS,carcinoma,papillary renal cell carcinomac.2889-2A>Cp.?0
38COSM5015411MAFkidney,NS,carcinoma,papillary renal cell carcinomac.169T>Gp.S57A0
39COSM5017247ABL1kidney,NS,carcinoma,papillary renal cell carcinomac.2628G>Cp.R876S0
40COSM483HRASskin,face,carcinoma,NSc.35G>Tp.G12V0
41COSM45765TP53skin,leg,carcinoma,NSc.987C>Ap.T329T0
42COSM17511PTCH1skin,face,carcinoma,NSc.3583A>Tp.T1195S0
43COSM17598PTCH1skin,face,carcinoma,NSc.550C>Tp.Q184*0
44COSM29147PTCH1skin,face,carcinoma,NSc.1356T>Gp.Y452*0
45COSM5014459GATBkidney,NS,carcinoma,papillary renal cell carcinomac.1132A>Cp.S378R0
46COSM13146SMOskin,face,carcinoma,NSc.1604G>Tp.W535L0
47COSM17498PTCH1skin,face,carcinoma,NSc.2033C>Tp.T678I0
48COSM5012360FADS1kidney,NS,carcinoma,papillary renal cell carcinomac.340G>Cp.E114Q0
49COSM3132133FRG1kidney,NS,carcinoma,papillary renal cell carcinomac.386C>Gp.S129*0
50COSM11449TP53skin,face,carcinoma,NSc.388C>Tp.L130F0

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:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of apoptotic processGO:00430659.1BNIP3, LDHA
2response to hypoxiaGO:00016669.1BNIP3, LDHA

Sources for Leiomyomatosis and Renal Cell Cancer

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet