HLRCC
MCID: LMY005
MIFTS: 55

Leiomyomatosis and Renal Cell Cancer (HLRCC) 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 52 25 12
Hereditary Leiomyomatosis and Renal Cell Cancer 52 23 48 24 25 54 70 68
Hlrcc 23 48 24 25 54 70 50
Multiple Cutaneous and Uterine Leiomyomata 48 25 70
Lrcc 48 25 70
Mcul 48 25 54
Mcl 48 25 70
Hereditary Leiomyomatosis and Renal Cell Carcinoma 24 25
Leiomyomatosis and Renal Cell Cancer Hereditary 70 27
Leiomyoma Multiple Cutaneous 70 27
Leiomyomatosis Familial 48 27
Reed's Syndrome 48 25
Multiple Cutaneous and Uterine Leiomyomata 1 with or Without Renal Cell Carcinoma 70
 
Hereditary Leiomyomatosis with Renal Carcinoma 54
Familial Leiomyomatosis and Renal Cell Cancer 54
Familial Leiomyomatosis with Renal Carcinoma 54
Multiple Cutaneous and Uterine Leiomyomas 54
Hereditary Multiple Cutaneous Leiomyomas 54
Familial Leiomyomatosis Cutis Et Uteri 54
Familial Multiple Cutaneous Leiomyomas 54
Multiple Cutaneous Leiomyomata 48
Multiple Cutaneous Leiomyoma 25
Hereditary Leiomyomatosis 54
Familial Leiomyomatosis 48
Reed Syndrome 54
Mcul1 70

Characteristics:

Orphanet epidemiological data:

54
hereditary leiomyomatosis and renal cell cancer:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Elderly

HPO:

64
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:

OMIM52 150800
Orphanet54 ORPHA523
ICD10 via Orphanet31 C64
MeSH39 D018231

Summaries for Leiomyomatosis and Renal Cell Cancer

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OMIM:52 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 renal cell carcinoma, papillary, and has symptoms including flank pain, flank pain and Array. An important gene associated with Leiomyomatosis and Renal Cell Cancer is FH (Fumarate Hydratase), and among its related pathways are Amino Acid metabolism and Pyruvate metabolism. Affiliated tissues include uterus, kidney and skin, and related mouse phenotypes are cardiovascular system and neoplasm.

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:48 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:70 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:71 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 the top 20 diseases related to Leiomyomatosis and Renal Cell Cancer:



Diseases related to leiomyomatosis and renal cell cancer

Symptoms & Phenotypes 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:

 54 64 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 uterine leiomyoma64 54 Occasional (29-5%) HP:0000131
2 cataract64 54 Occasional (29-5%) HP:0000518
3 pruritus64 54 Frequent (79-30%) HP:0000989
4 uterine leiomyosarcoma64 54 Occasional (29-5%) HP:0002891
5 abnormality of the musculature64 54 Very frequent (99-80%) HP:0003011
6 papillary renal cell carcinoma type 264 54 Occasional (29-5%) HP:0006732
7 multiple cutaneous leiomyomas64 54 Very frequent (99-80%) HP:0007437
8 cutaneous leiomyoma64 54 Very frequent (99-80%) HP:0007620
9 barrett esophagus64 54 Occasional (29-5%) HP:0100580
10 vaginal neoplasm64 54 Occasional (29-5%) HP:0100650
11 esophageal neoplasm54 Occasional (29-5%)
12 decreased fumarate hydratase activity64 HP:0003536
13 renal cell carcinoma64 HP:0005584
14 cutaneous leiomyosarcoma64 HP:0006755

UMLS symptoms related to Leiomyomatosis and Renal Cell Cancer:


flank pain

MGI Mouse Phenotypes related to Leiomyomatosis and Renal Cell Cancer according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.2BNIP3, HIF1A, LDHA, NFE2L2, SDHB
2MP:00020068.1HIF1A, LDHA, NFE2L2, SDHB

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 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineapprovedPhase 280551-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2
Bevacizumabapproved, investigationalPhase 22020216974-75-3
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 21803657-24-914219, 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
4
Azacitidineapproved, investigationalPhase 2529320-67-29444
Synonyms:
2-(beta-D-Ribofuranosyl)-4-amino-1,3,5-triazin-2-one
320-67-2
4-Amino-1-(beta-D-ribofuranosyl)-1,3,5-triazin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-1,3,5-traizin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-1,3,5-triazine-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-S-triazin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-s-triazin-2(1H)-one
4-Amino-1-beta-d-ribofuranosyl-1,3,5-triazin-2(1H)-one
4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triaz
4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triazin-2-one
4-amino-1-beta-L-ribofuranosyl-1,3,5-triazin-2(1H)-one
5 AZC
5 Azacytidine
5-AC
5-AZAC
5-AZCR
5-Azacytidine
5-aza-CR
5-azacitidine
5-azacytidine
5-azacytidine, Mylosar, Ladakamycin, Vidaza, Azacitidine
5AzaC
A 2385
A1287_SIGMA
A2385_SIGMA
AC1L1T1Y
Antibiotic U 18496
Azacitidina
Azacitidina [INN-Spanish]
Azacitidine
Azacitidine (JAN/USAN/INN)
Azacitidine [USAN:INN]
Azacitidinum
Azacitidinum [INN-Latin]
Azacytidine
BCBcMAP01_000083
BRN 0620461
BSPBio_003157
C11262
CCRIS 60
CHEBI:2038
CHEMBL1489
CID9444
CPD000857239
D001374
D03021
DB00928
DivK1c_000125
EINECS 206-280-2
EU-0100035
FT-0081170
HMS1921J22
HMS2092D08
HMS500G07
HSDB 6879
IDI1_000125
InChI=1/C8H12N4O5/c9-7-10-2-12(8(16)11-7)6-5(15)4(14)3(1-13)17-6/h2-6,13-15H,1H2,(H2,9,11,16)/t3-,4-,5-,6-/m1/s1
 
Jsp005945
KBio1_000125
KBio2_001742
KBio2_002556
KBio2_004310
KBio2_005124
KBio2_006878
KBio2_007692
KBio3_002657
KBio3_003034
KBioGR_001444
KBioGR_002556
KBioSS_001742
KBioSS_002565
LS-1189
Ladakamycin
Lopac0_000035
MLS001333121
MLS001333122
MLS002153249
MolMap_000062
Mylosar
NCGC00090851-01
NCGC00090851-02
NCGC00090851-03
NCGC00090851-04
NCGC00090851-08
NCGC00178234-01
NCI-C01569
NINDS_000125
NS-17
NSC 102816
NSC-102816
NSC102816
Pharmion Brand of Azacitidine
S1782_Selleck
SAM002264595
SMR000857239
SPBio_000892
SPECTRUM1502111
ST056940
Spectrum2_000786
Spectrum3_001509
Spectrum4_000922
Spectrum5_001166
Spectrum_001262
TL80073599
U 18496
U-18496
UNII-M801H13NRU
Vidaza
Vidaza (TN)
WR-183027
ZINC03861768
cMAP_000082
mylo sar
pyrimidine antimetabolite: inhibits nucleic acid replication
s-Triazin-2(1H)-one, 4-amino-1-beta-D-ribofuranosyl- (8CI)
wr 183027
5onabotulinumtoxinAPhase 2652
6abobotulinumtoxinAPhase 2652
7Neurotransmitter AgentsPhase 218340
8Peripheral Nervous System AgentsPhase 223689
9Cholinergic AgentsPhase 23992
10Neuromuscular AgentsPhase 21180
11Botulinum Toxins, Type APhase 2657
12Botulinum ToxinsPhase 2697
13incobotulinumtoxinAPhase 2662
14Hypoglycemic AgentsPhase 1, Phase 25896
15
Erlotinib HydrochloridePhase 2810183319-69-9176871
Synonyms:
 
erlotinib hydrochloride
16Protein Kinase InhibitorsPhase 23689
17Angiogenesis Modulating AgentsPhase 24185
18Angiogenesis InhibitorsPhase 24257
19AntimetabolitesPhase 212054
20Antimetabolites, AntineoplasticPhase 27361

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
4A Phase II Trial of the DNA Methyl Transferase Inhibitor, Guadecitabine (SGI-110), in Children and Adults With Wild Type GIST,Pheochromocytoma and Paraganglioma Associated With Succinate Dehydrogenase Deficiency and HLRCC-associated Kidney CancerNot yet recruitingNCT03165721Phase 2
5Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal CancerRecruitingNCT00050752
6French 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 Cancer27 24 FH
2 Multiple Cutaneous Leiomyomas27
3 Leiomyomatosis Familial27

Anatomical Context for Leiomyomatosis and Renal Cell Cancer

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

36
Uterus, Kidney, Skin, Smooth muscle, Lymph node

Publications for Leiomyomatosis and Renal Cell Cancer

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Articles related to Leiomyomatosis and Renal Cell Cancer:

(show all 41)
idTitleAuthorsYear
1
First Presentation of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Pregnancy. (26902252)
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
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
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
Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia typeA 1 (HT1). (26551707)
2015
6
Case 221: Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. (26302393)
2015
7
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer. (26493120)
2015
8
Hereditary leiomyomatosis and renal cell cancer syndrome. (26323704)
2015
9
Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion? (26380143)
2015
10
Myopathy in hereditary leiomyomatosis and renal cell cancer in an extended family. (25354562)
2014
11
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. (25012257)
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
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance. (22086304)
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
Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. (22127509)
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
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
19
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. (20618355)
2011
20
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. (21404119)
2011
21
A case report of hereditary leiomyomatosis and renal cell cancer. (20510956)
2010
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
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? (19183174)
2009
24
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer. (19276158)
2009
25
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. (19075141)
2008
26
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). (17908262)
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
Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. (17509289)
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: an unusual and aggressive form of hereditary renal carcinoma. (17392716)
2007
31
Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. (17287871)
2007
32
Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer. (16948378)
2006
33
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation. (17034471)
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
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. (16237213)
2005
37
Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome. (15586379)
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:

70
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 50)
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)SNVPathogenic/ Likely pathogenicrs121913123GRCh37Chr 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)SNVPathogenic/ Likely 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.1093A> G (p.Ser365Gly)SNVPathogenic/ Likely pathogenicrs863223966GRCh38Chr 1, 241504057: 241504057
14FHNM_ 000143.3(FH): c.139C> T (p.Gln47Ter)SNVPathogenicrs863223980GRCh37Chr 1, 241680610: 241680610
15FHNM_ 000143.3(FH): c.1083_ 1086delTGAA (p.Glu362Glnfs)deletionPathogenicrs756469140GRCh37Chr 1, 241667364: 241667367
16FHNM_ 000143.3(FH): c.395_ 399delTAAAT (p.Leu132Terfs)deletionPathogenicrs863223995GRCh37Chr 1, 241675423: 241675427
17FHNM_ 000143.3(FH): c.1189G> A (p.Gly397Arg)SNVPathogenicrs863224007GRCh38Chr 1, 241502490: 241502490
18FHNM_ 000143.3(FH): c.1394A> G (p.Tyr465Cys)SNVLikely pathogenicrs863224010GRCh37Chr 1, 241661267: 241661267
19FHNM_ 000143.3(FH): c.133-1G> ASNVPathogenicrs863224011GRCh38Chr 1, 241517317: 241517317
20FHNM_ 000143.3(FH): c.554A> G (p.Gln185Arg)SNVLikely pathogenicrs779707997GRCh38Chr 1, 241511968: 241511968
21FHNM_ 000143.3(FH): c.267+1G> CSNVPathogenicrs878853691GRCh37Chr 1, 241680481: 241680481
22FHNM_ 000143.3(FH): c.1500G> A (p.Trp500Ter)SNVPathogenic/ Likely pathogenicrs886039368GRCh37Chr 1, 241661161: 241661161
23FHNM_ 000143.3(FH): c.157G> T (p.Glu53Ter)SNVPathogenicrs863224013GRCh37Chr 1, 241680592: 241680592
24FHNM_ 000143.3(FH): c.239dupA (p.Ile81Aspfs)duplicationPathogenicGRCh38Chr 1, 241517210: 241517210
25FHNM_ 000143.3(FH): c.267+1_ 267+10delGTAAGTGGCAdeletionPathogenicrs1060499629GRCh38Chr 1, 241517172: 241517181
26FHNM_ 000143.3(FH): c.322C> T (p.Gln108Ter)SNVPathogenicrs1060499630GRCh37Chr 1, 241676959: 241676959
27FHNM_ 000143.3(FH): c.395delT (p.Leu132Terfs)deletionPathogenicrs1060499631GRCh38Chr 1, 241512127: 241512127
28FHNM_ 000143.3(FH): c.439dupA (p.Thr147Asnfs)duplicationPathogenicGRCh38Chr 1, 241512083: 241512083
29FHNM_ 000143.3(FH): c.524delT (p.Val175Glyfs)deletionPathogenicrs1060499634GRCh38Chr 1, 241511998: 241511998
30FHNM_ 000143.3(FH): c.553_ 554insTG (p.Gln185Leufs)insertionPathogenicrs768182640GRCh38Chr 1, 241511968: 241511969
31FHNM_ 000143.3(FH): c.556-2A> TSNVPathogenicrs750273092GRCh38Chr 1, 241508787: 241508787
32FHNM_ 000143.3(FH): c.578_ 583delCAGCAA (p.Thr193_ Ala194del)deletionLikely pathogenicrs1060499635GRCh38Chr 1, 241508758: 241508763
33FHNM_ 000143.3(FH): c.703C> G (p.His235Asp)SNVLikely pathogenicrs863223968GRCh38Chr 1, 241508638: 241508638
34FHNM_ 000143.3(FH): c.722_ 738+3deldeletionPathogenicGRCh38Chr 1, 241508600: 241508619
35FHNM_ 000143.3(FH): c.731T> G (p.Leu244Arg)SNVLikely pathogenicrs1060499636GRCh38Chr 1, 241508610: 241508610
36FHNM_ 000143.3(FH): c.808delT (p.Tyr270Metfs)deletionPathogenicrs1060499637GRCh37Chr 1, 241669399: 241669399
37FHNM_ 000143.3(FH): c.820G> C (p.Ala274Pro)SNVLikely pathogenicrs1060499638GRCh38Chr 1, 241506087: 241506087
38FHNM_ 000143.3(FH): c.1041delT (p.Gly348Valfs)deletionPathogenicrs1060499641GRCh38Chr 1, 241504109: 241504109
39FHNM_ 000143.3(FH): c.1063G> T (p.Glu355Ter)SNVPathogenicrs1060499642GRCh38Chr 1, 241504087: 241504087
40FHNM_ 000143.3(FH): c.1118A> G (p.Asn373Ser)SNVPathogenicrs1060499643GRCh38Chr 1, 241502561: 241502561
41FHNM_ 000143.3(FH): c.1138dupA (p.Met380Asnfs)duplicationPathogenicGRCh37Chr 1, 241665841: 241665841
42FHNM_ 000143.3(FH): c.1209delT (p.Phe403Leufs)deletionPathogenicrs1060499644GRCh38Chr 1, 241502470: 241502470
43FHNM_ 000143.3(FH): c.1298_ 1340dup43 (p.Met449Argfs)duplicationPathogenicGRCh38Chr 1, 241500487: 241500529
44FHNM_ 000143.3(FH): c.1469delG (p.Gly490Alafs)deletionLikely pathogenicrs1060499645GRCh38Chr 1, 241497892: 241497892
45FHNM_ 000143.3(FH): c.1126C> T (p.Gln376Ter)SNVPathogenicrs398123160GRCh37Chr 1, 241665853: 241665853
46FHNM_ 000143.3(FH): c.1255T> C (p.Ser419Pro)SNVPathogenic/ Likely pathogenicrs200004220GRCh37Chr 1, 241663872: 241663872
47FHNM_ 000143.3(FH): c.1293delA (p.Glu432Lysfs)deletionPathogenicrs398123163GRCh37Chr 1, 241663834: 241663834
48FHNM_ 000143.3(FH): c.320A> C (p.Asn107Thr)SNVPathogenicrs121913121GRCh37Chr 1, 241676961: 241676961
49FHNM_ 000143.3(FH): c.560C> G (p.Ser187Ter)SNVPathogenicrs398123166GRCh37Chr 1, 241672081: 241672081
50FHNM_ 000143.3(FH): c.952C> T (p.His318Tyr)SNVPathogenic/ Likely pathogenicrs398123168GRCh37Chr 1, 241667498: 241667498

Cosmic variations for Leiomyomatosis and Renal Cell Cancer:

8 (show top 50)    (show all 298)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM26614RABGAP1kidney,NS,carcinoma,renal cellc.1533T>Ap.H511Q38
2COSM30531COPS4kidney,NS,carcinoma,renal cellc.385G>Cp.G129R38
3COSM30471ARHGAP20kidney,NS,carcinoma,renal cellc.1355A>Gp.D452G38
4COSM30474TRIOkidney,NS,carcinoma,renal cellc.9008A>Gp.N3003S38
5COSM25654CDC5Lkidney,NS,carcinoma,renal cellc.1196G>Ap.R399Q38
6COSM25676VHLkidney,NS,carcinoma,renal cellc.485G>Tp.C162F38
7COSM28415DOCK1kidney,NS,carcinoma,renal cellc.1306G>Tp.D436Y38
8COSM30502ITPR3kidney,NS,carcinoma,renal cellc.4574G>Tp.C1525F38
9COSM27618KMT2Akidney,NS,carcinoma,renal cellc.5711C>Tp.A1904V38
10COSM30530PTPN22kidney,NS,carcinoma,renal cellc.209G>Cp.R70P38
11COSM26594RNF144Akidney,NS,carcinoma,renal cellc.410C>Tp.A137V38
12COSM27269UMPSkidney,NS,carcinoma,renal cellc.528G>Ap.L176L38
13COSM26987RGS7kidney,NS,carcinoma,renal cellc.169T>Cp.F57L38
14COSM132853NFE2L2kidney,NS,carcinoma,Type 2c.245A>Gp.E82G9
15COSM691METkidney,NS,carcinoma,papillary renal cell carcinomac.3803T>Cp.M1268T8
16COSM43920TP53skin,face,carcinoma,NSc.680C>Tp.S227F8
17COSM5011046COL6A3kidney,NS,carcinoma,papillary renal cell carcinomac.5464G>Ap.E1822K8
18COSM266367DDX54kidney,NS,carcinoma,papillary renal cell carcinomac.1543G>Ap.A515T8
19COSM10705TP53skin,face,carcinoma,NSc.586C>Tp.R196*8
20COSM10654TP53skin,face,carcinoma,NSc.637C>Tp.R213*8
21COSM14464PTCH1skin,face,carcinoma,NSc.1804C>Tp.R602*8
22COSM4760527KSR2kidney,NS,carcinoma,papillary renal cell carcinomac.1679C>Tp.T560M8
23COSM45774TP53skin,arm,carcinoma,NSc.899C>Gp.P300R8
24COSM5015023ATG2Akidney,NS,carcinoma,papillary renal cell carcinomac.5740G>Ap.G1914S8
25COSM5013688H1F0kidney,NS,carcinoma,papillary renal cell carcinomac.68C>Tp.T23I8
26COSM11084TP53skin,face,carcinoma,NSc.517G>Ap.V173M8
27COSM30383KMT2Dkidney,NS,carcinoma,papillary renal cell carcinomac.6185C>Tp.T2062I8
28COSM5012458SLC6A12kidney,NS,carcinoma,papillary renal cell carcinomac.1451A>Gp.N484S8
29COSM3121317CASRkidney,NS,carcinoma,papillary renal cell carcinomac.2590C>Tp.P864S8
30COSM10662TP53skin,face,carcinoma,NSc.743G>Ap.R248Q8
31COSM5012862RTF1kidney,NS,carcinoma,papillary renal cell carcinomac.1725G>Tp.L575F8
32COSM5012058ZNF462kidney,NS,carcinoma,papillary renal cell carcinomac.7085G>Ap.R2362Q8
33COSM29055PTCH1skin,face,carcinoma,NSc.2050G>Tp.E684*8
34COSM44097TP53skin,face,carcinoma,NSc.530C>Tp.P177L8
35COSM29048PTCH1skin,face,carcinoma,NSc.1347+1G>Ap.?8
36COSM5010455AGRNkidney,NS,carcinoma,papillary renal cell carcinomac.4646G>Tp.G1549V8
37COSM5017225KMT2Akidney,NS,carcinoma,papillary renal cell carcinomac.6911A>Tp.K2304M8
38COSM5011074TOP2Bkidney,NS,carcinoma,papillary renal cell carcinomac.2758C>Ap.Q920K8
39COSM10988TP53skin,face,carcinoma,NSc.772G>Ap.E258K8
40COSM44435TP53skin,face,carcinoma,NSc.96+1G>Ap.?8
41COSM5014755REPIN1kidney,NS,carcinoma,papillary renal cell carcinomac.664G>Ap.V222M8
42COSM5014655ZBTB2kidney,NS,carcinoma,papillary renal cell carcinomac.931G>Ap.E311K8
43COSM43697TP53kidney,NS,carcinoma,papillary renal cell carcinomac.832C>Ap.P278T8
44COSM43588TP53skin,face,carcinoma,NSc.740A>Cp.N247T8
45COSM20754ATMkidney,NS,carcinoma,papillary renal cell carcinomac.4407T>Gp.I1469M8
46COSM520KRASskin,face,carcinoma,NSc.35G>Tp.G12V8
47COSM564NRASskin,face,carcinoma,NSc.35G>Ap.G12D8
48COSM10728TP53skin,face,carcinoma,NSc.839G>Ap.R280K8
49COSM5015634ARHGAP35kidney,NS,carcinoma,papillary renal cell carcinomac.481C>Tp.L161F8
50COSM1208713GPR39kidney,NS,carcinoma,papillary renal cell carcinomac.1192C>Tp.R398C8

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 13)
idNameGO IDScoreTop Affiliating Genes
1cellular response to hydrogen peroxideGO:007030110.1BNIP3, NFE2L2
2negative regulation of cell deathGO:006054810.1BNIP3, NFE2L2
3lactate metabolic processGO:00060899.8HIF1A, LDHA
4cerebral cortex developmentGO:00219879.8BNIP3, HIF1A
5negative regulation of reactive oxygen species metabolic processGO:20003789.8BNIP3, HIF1A
6positive regulation of angiogenesisGO:00457669.7HIF1A, NFE2L2
7positive regulation of autophagyGO:00105089.7BNIP3, HIF1A
8positive regulation of macroautophagyGO:00162399.7BNIP3, HIF1A
9positive regulation of mitophagyGO:19035999.7BNIP3, HIF1A
10regulation of aerobic respirationGO:19037159.7BNIP3, HIF1A
11tricarboxylic acid cycleGO:00060999.4FH, SDHB
12cellular response to hypoxiaGO:00714569.3BNIP3, HIF1A, NFE2L2
13response to hypoxiaGO:00016669.1BNIP3, HIF1A, LDHA

Sources for Leiomyomatosis and Renal Cell Cancer

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet