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

About this section

Aliases & Descriptions for Leiomyomatosis and Renal Cell Cancer:

Name: Leiomyomatosis and Renal Cell Cancer 49 11 23
Hereditary Leiomyomatosis and Renal Cell Cancer 21 45 22 23 51 67 65
Hlrcc 21 45 22 23 47 51 67
Multiple Cutaneous and Uterine Leiomyomata 45 23 67
Mcul 45 23 51
Lrcc 45 23 67
Mcl 45 23 67
Hereditary Leiomyomatosis and Renal Cell Carcinoma 22 23
Leiomyomatosis and Renal Cell Cancer Hereditary 67 24
Leiomyomatosis Familial 45 24
Reed's Syndrome 45 23
Multiple Cutaneous and Uterine Leiomyomata 1 with or Without Renal Cell Carcinoma 67
Hereditary Leiomyomatosis with Renal Carcinoma 51
 
Familial Leiomyomatosis and Renal Cell Cancer 51
Familial Leiomyomatosis with Renal Carcinoma 51
Multiple Cutaneous and Uterine Leiomyomas 51
Hereditary Multiple Cutaneous Leiomyomas 51
Familial Multiple Cutaneous Leiomyomas 51
Familial Leiomyomatosis Cutis Et Uteri 51
Multiple Cutaneous Leiomyomata 45
Leiomyoma Multiple Cutaneous 67
Multiple Cutaneous Leiomyoma 23
Hereditary Leiomyomatosis 51
Familial Leiomyomatosis 45
Reed Syndrome 51
Mcul1 67

Characteristics:

Orphanet epidemiological data:

51
hereditary leiomyomatosis and renal cell cancer:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Elderly

HPO:

61
leiomyomatosis and renal cell cancer:
Onset and clinical course: incomplete penetrance
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 150800
Orphanet51 523
ICD10 via Orphanet28 D23
MeSH36 D018231
UMLS65 C1708350

Summaries for Leiomyomatosis and Renal Cell Cancer

About this section
OMIM:49 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 neoplasm of the skin, abnormality of the musculature 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, skin and kidney, and related mouse phenotype cardiovascular system.

Genetics Home Reference:23 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:45 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:67 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:68 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

About this section

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

About this section

Symptoms by clinical synopsis from OMIM:

150800

Clinical features from OMIM:

150800

Symptoms:

 51 (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 14)
id Description Frequency HPO Source Accession
1 neoplasm of the skin hallmark (90%) HP:0008069
2 abnormality of the musculature hallmark (90%) HP:0003011
3 pruritus typical (50%) HP:0000989
4 esophageal neoplasm occasional (7.5%) HP:0100751
5 vaginal neoplasm occasional (7.5%) HP:0100650
6 uterine neoplasm occasional (7.5%) HP:0010784
7 cataract occasional (7.5%) HP:0000518
8 cutaneous leiomyosarcoma rare (5%) HP:0006755
9 cutaneous leiomyoma HP:0007620
10 multiple cutaneous leiomyomas HP:0007437
11 renal cell carcinoma HP:0005584
12 decreased fumarate hydratase activity HP:0003536
13 uterine leiomyosarcoma HP:0002891
14 uterine leiomyoma HP:0000131

UMLS symptoms related to Leiomyomatosis and Renal Cell Cancer:


flank pain

Drugs & Therapeutics for Leiomyomatosis and Renal Cell Cancer

About this section

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

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bevacizumabapproved, investigationalPhase 21875216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
2
MetforminapprovedPhase 1, Phase 21645657-24-9, 1115-70-414219, 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
DMBG
DMGG
Diabefagos
Diabetosan
Diabex
Diaformin
Dianben
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
Meguan
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin Hydrochloride
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
Obimet
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
AcetylcholineexperimentalPhase 268951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
4AbobotulinumtoxinAPhase 2588
5Peripheral Nervous System AgentsPhase 218510
6Neurotransmitter AgentsPhase 214795
7OnabotulinumtoxinAPhase 2588
8Botulinum Toxins, Type APhase 2588
9Neuromuscular AgentsPhase 2922
10Botulinum ToxinsPhase 2616
11IncobotulinumtoxinAPhase 2599
12Cholinergic AgentsPhase 23243
13Hypoglycemic AgentsPhase 1, Phase 24503
14Protein Kinase InhibitorsPhase 23162
15Angiogenesis Modulating AgentsPhase 23611
16Angiogenesis InhibitorsPhase 23688
17
Erlotinib HydrochloridePhase 2781183319-69-9176871
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

Search NIH Clinical Center for Leiomyomatosis and Renal Cell Cancer

Genetic Tests for Leiomyomatosis and Renal Cell Cancer

About this section

Genetic tests related to Leiomyomatosis and Renal Cell Cancer:

id Genetic test Affiliating Genes
1 Hereditary Leiomyomatosis and Renal Cell Cancer22 FH

Anatomical Context for Leiomyomatosis and Renal Cell Cancer

About this section

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

33
Uterus, Skin, Kidney, Smooth muscle, Prostate, Cervix, Pituitary

Animal Models for Leiomyomatosis and Renal Cell Cancer or affiliated genes

About this section

MGI Mouse Phenotypes related to Leiomyomatosis and Renal Cell Cancer:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.0BNIP3, HIF1A, LDHA, SDHB

Publications for Leiomyomatosis and Renal Cell Cancer

About this section

Articles related to Leiomyomatosis and Renal Cell Cancer:

(show all 40)
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
Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia typeA 1 (HT1). (26551707)
2015
5
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer. (26493120)
2015
6
Hereditary leiomyomatosis and renal cell cancer syndrome. (26323704)
2015
7
Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion? (26380143)
2015
8
Case 221: Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. (26302393)
2015
9
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. (25012257)
2014
10
Myopathy in hereditary leiomyomatosis and renal cell cancer in an extended family. (25354562)
2014
11
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
12
Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer. (22982371)
2013
13
Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. (22565324)
2012
14
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance. (22086304)
2012
15
Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. (22127509)
2012
16
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
17
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
18
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. (20618355)
2011
19
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. (21404119)
2011
20
A case report of hereditary leiomyomatosis and renal cell cancer. (20510956)
2010
21
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? (19183174)
2009
22
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
23
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer. (19276158)
2009
24
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). (17908262)
2008
25
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
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
Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. (17287871)
2007
28
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer. (17383644)
2007
29
Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. (17509289)
2007
30
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. (17392716)
2007
31
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation. (17034471)
2006
32
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. (16597677)
2006
33
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. (15937070)
2006
34
Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer. (16948378)
2006
35
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. (16237213)
2005
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
Hereditary leiomyomatosis and renal cell cancer (HLRCC). (15579034)
2004
38
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. (12772087)
2003
39
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. (12183404)
2002
40
Hereditary Leiomyomatosis and Renal Cell Cancer (20301430)
1993

Variations for Leiomyomatosis and Renal Cell Cancer

About this section

UniProtKB/Swiss-Prot genetic disease variations for Leiomyomatosis and Renal Cell Cancer:

67
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:

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 variantPathogenicrs797044973GRCh37Chr 1, 241667546: 241667546
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:

7 (show top 50)    (show all 156)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM132853NFE2L2kidney,NS,carcinoma,Type 29
2COSM496HRASskin,arm,carcinoma,NS8
3COSM498HRASskin,arm,carcinoma,NS8
4COSM516KRASskin,arm,carcinoma,NS8
5COSM520KRASskin,face,carcinoma,NS8
6COSM521KRASskin,face,carcinoma,NS8
7COSM564NRASskin,face,carcinoma,NS8
8COSM574NRASskin,face,carcinoma,NS8
9COSM688METkidney,NS,carcinoma,papillary renal cell carcinoma8
10COSM689METkidney,NS,carcinoma,papillary renal cell carcinoma8
11COSM690METkidney,NS,carcinoma,papillary renal cell carcinoma8
12COSM696METkidney,NS,carcinoma,papillary renal cell carcinoma8
13COSM697METkidney,NS,carcinoma,papillary renal cell carcinoma8
14COSM698METkidney,NS,carcinoma,papillary renal cell carcinoma8
15COSM704METkidney,NS,carcinoma,papillary renal cell carcinoma8
16COSM763PIK3CAskin,back,carcinoma,NS8
17COSM5260PTENkidney,NS,carcinoma,papillary renal cell carcinoma8
18COSM10654TP53skin,face,carcinoma,NS8
19COSM10656TP53skin,face,carcinoma,NS8
20COSM10662TP53kidney,NS,carcinoma,papillary renal cell carcinoma8
21COSM10704TP53skin,face,carcinoma,NS8
22COSM10726TP53skin,face,carcinoma,NS8
23COSM10728TP53skin,face,carcinoma,NS8
24COSM10733TP53skin,face,carcinoma,NS8
25COSM10749TP53skin,face,carcinoma,NS8
26COSM10812TP53skin,arm,carcinoma,NS8
27COSM10887TP53skin,face,carcinoma,NS8
28COSM10939TP53skin,face,carcinoma,NS8
29COSM10988TP53skin,face,carcinoma,NS8
30COSM11073TP53skin,face,carcinoma,NS8
31COSM11081TP53skin,face,carcinoma,NS8
32COSM11084TP53skin,face,carcinoma,NS8
33COSM13145SMOskin,face,carcinoma,NS8
34COSM13146SMOskin,face,carcinoma,NS8
35COSM13233SUFUskin,face,carcinoma,NS8
36COSM13234SUFUskin,face,carcinoma,NS8
37COSM13240SMOskin,face,carcinoma,NS8
38COSM14311VHLkidney,NS,carcinoma,papillary renal cell carcinoma8
39COSM14439PTCH1skin,face,carcinoma,NS8
40COSM14440PTCH1skin,arm,carcinoma,NS8
41COSM14446PTCH1skin,face,carcinoma,NS8
42COSM14464PTCH1skin,face,carcinoma,NS8
43COSM17456PTCH1skin,arm,carcinoma,NS8
44COSM17460PTCH1skin,face,carcinoma,NS8
45COSM17462PTCH1skin,face,carcinoma,NS8
46COSM17467PTCH1skin,face,carcinoma,NS8
47COSM17472PTCH1skin,face,carcinoma,NS8
48COSM17473PTCH1skin,face,carcinoma,NS8
49COSM17489PTCH1skin,face,carcinoma,NS8
50COSM17492PTCH1skin,face,carcinoma,NS8

Expression for genes affiliated with Leiomyomatosis and Renal Cell Cancer

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

Pathways for genes affiliated with Leiomyomatosis and Renal Cell Cancer

About this section

GO Terms for genes affiliated with Leiomyomatosis and Renal Cell Cancer

About this section

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1lactate metabolic processGO:00060899.5HIF1A, LDHA
2positive regulation of macroautophagyGO:00162399.5BNIP3, HIF1A
3cellular response to cobalt ionGO:00712799.5BNIP3, HIF1A
4negative regulation of reactive oxygen species metabolic processGO:20003789.4BNIP3, HIF1A
5positive regulation of autophagyGO:00105089.3BNIP3, HIF1A
6response to glucoseGO:00097499.2HIF1A, LDHA
7cellular response to hypoxiaGO:00714569.1BNIP3, HIF1A
8cellular response to mechanical stimulusGO:00712609.0BNIP3, HIF1A
9response to estrogenGO:00436278.7HIF1A, LDHA

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428029.3BNIP3, LDHA
2oxidoreductase activityGO:00164919.0LDHA, SDHB

Sources for Leiomyomatosis and Renal Cell Cancer

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet