MCID: LMY005
MIFTS: 56

Leiomyomatosis and Renal Cell Cancer

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

Aliases & Classifications for Leiomyomatosis and Renal Cell Cancer

MalaCards integrated aliases for Leiomyomatosis and Renal Cell Cancer:

Name: Leiomyomatosis and Renal Cell Cancer 54 25 13
Hereditary Leiomyomatosis and Renal Cell Cancer 23 50 24 25 56 71 29 69
Hlrcc 23 50 24 25 56 71 52
Multiple Cutaneous and Uterine Leiomyomata 50 25 71
Lrcc 50 25 71
Mcul 50 25 56
Mcl 50 25 71
Hereditary Leiomyomatosis and Renal Cell Carcinoma 24 25
Leiomyomatosis Familial 50 29
Reed's Syndrome 50 25
Multiple Cutaneous and Uterine Leiomyomata 1 with or Without Renal Cell Carcinoma 71
Leiomyomatosis and Renal Cell Cancer Hereditary 71
Hereditary Leiomyomatosis with Renal Carcinoma 56
Familial Leiomyomatosis and Renal Cell Cancer 56
Familial Leiomyomatosis with Renal Carcinoma 56
Multiple Cutaneous and Uterine Leiomyomas 56
Hereditary Multiple Cutaneous Leiomyomas 56
Familial Leiomyomatosis Cutis Et Uteri 56
Familial Multiple Cutaneous Leiomyomas 56
Multiple Cutaneous Leiomyomata 50
Multiple Cutaneous Leiomyomas 29
Multiple Cutaneous Leiomyoma 25
Leiomyoma Multiple Cutaneous 71
Hereditary Leiomyomatosis 56
Familial Leiomyomatosis 50
Reed Syndrome 56
Mcul1 71

Characteristics:

Orphanet epidemiological data:

56
hereditary leiomyomatosis and renal cell cancer
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Elderly;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
incomplete penetrance
cutaneous leiomyomas increase in number over time
mean age of diagnosis of uterine leiomyomas is 30 years
mean age of diagnosis of renal cell carcinoma is 46 years


HPO:

32
leiomyomatosis and renal cell cancer:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


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:



Summaries for Leiomyomatosis and Renal Cell Cancer

OMIM : 54
Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma. The main focus of management in HLRCC is prevention of disease and death due to renal cancer (summary by Gardie et al., 2011; Smit et al., 2011; and Lehtonen, 2011). For a general discussion of papillary renal cell carcinoma, see RCCP1 (605074). (150800)

MalaCards based summary : Leiomyomatosis and Renal Cell Cancer, also known as hereditary leiomyomatosis and renal cell cancer, is related to renal cell carcinoma, papillary and multiple cutaneous and uterine leiomyomas, and has symptoms including cataract, uterine leiomyosarcoma and pruritus. An important gene associated with Leiomyomatosis and Renal Cell Cancer is FH (Fumarate Hydratase), and among its related pathways/superpathways are Autophagy - animal and Citrate cycle (TCA cycle). The drugs Acetylcholine and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include uterus, kidney and skin, and related phenotypes are cardiovascular system and neoplasm

NIH Rare Diseases : 50 hereditary leiomyomatosis and renal cellcancer (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 : 71 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.

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.

GeneReviews: NBK1252

Related Diseases for Leiomyomatosis and Renal Cell Cancer

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

(show all 22)
id Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, papillary 11.0
2 multiple cutaneous and uterine leiomyomas 10.8
3 night blindness-skeletal anomalies-dysmorphism syndrome 10.8
4 leiomyomatosis 10.6
5 leiomyoma 10.1
6 gata1-related x-linked cytopenia 10.1 FH HIF1A
7 ovarian carcinosarcoma 10.0 FH HIF1A
8 renal cell carcinoma 10.0
9 kidney cancer 10.0
10 uterine fibroid 9.8
11 melanoma 9.8
12 basal cell carcinoma 9.8
13 myopathy 9.8
14 tyrosinemia 9.8
15 hypoxia 9.8
16 fumarase deficiency 9.8
17 hidrotic ectodermal dysplasia 2 9.7 FH SDHB
18 opitz-gbbb syndrome 9.6 FH SDHB
19 erythrocytosis, familial, 2 9.4 HIF1A SDHB
20 large bowel leiomyoma 9.4 FH LDHA SDHB
21 ovarian brenner tumor 9.2 FH HIF1A SDHB
22 bernard-soulier syndrome, type c 8.8 FH HIF1A SDHB

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

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Internal Genitalia Female:
uterine leiomyomata
uterine leiomyosarcoma
uterine fibroids

Neoplasia:
uterine leiomyosarcoma (less common)
cutaneous leiomyosarcoma (less common)
renal cell carcinoma, solitary papillary type 2 (about 20% of patients)

Skin Nails & Hair- Skin:
cutaneous piloleiomyomas (may be single or multiple)
leiomyomas are sensitive to light touch
cutaneous leiomyosarcoma (rare)

Laboratory- Abnormalities:
decreased fumarate hydratase activity


Clinical features from OMIM:

150800

Human phenotypes related to Leiomyomatosis and Renal Cell Cancer:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
2 uterine leiomyosarcoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002891
3 pruritus 56 32 frequent (33%) Frequent (79-30%) HP:0000989
4 abnormality of the musculature 56 32 hallmark (90%) Very frequent (99-80%) HP:0003011
5 uterine leiomyoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000131
6 vaginal neoplasm 56 32 occasional (7.5%) Occasional (29-5%) HP:0100650
7 papillary renal cell carcinoma type 2 56 32 occasional (7.5%) Occasional (29-5%) HP:0006732
8 multiple cutaneous leiomyomas 56 32 hallmark (90%) Very frequent (99-80%) HP:0007437
9 cutaneous leiomyoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0007620
10 barrett esophagus 56 32 occasional (7.5%) Occasional (29-5%) HP:0100580
11 decreased fumarate hydratase activity 32 HP:0003536
12 renal cell carcinoma 32 HP:0005584
13 esophageal neoplasm 56 Occasional (29-5%)
14 cutaneous leiomyosarcoma 32 occasional (7.5%) HP:0006755

UMLS symptoms related to Leiomyomatosis and Renal Cell Cancer:


flank pain

MGI Mouse Phenotypes related to Leiomyomatosis and Renal Cell Cancer:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 BNIP3 HIF1A LDHA NFE2L2 SDHB
2 neoplasm MP:0002006 9.26 HIF1A LDHA NFE2L2 SDHB
3 renal/urinary system MP:0005367 8.8 FH HIF1A NFE2L2

Drugs & Therapeutics for Leiomyomatosis and Renal Cell Cancer

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

(show all 19)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 2 51-84-3 187
2
Bevacizumab Approved, Investigational Phase 2 216974-75-3
3
Metformin Approved Phase 1, Phase 2 657-24-9 14219 4091
4
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
5 abobotulinumtoxinA Phase 2
6 Botulinum Toxins Phase 2
7 Botulinum Toxins, Type A Phase 2
8 Cholinergic Agents Phase 2
9 Neuromuscular Agents Phase 2
10 Neurotransmitter Agents Phase 2
11 onabotulinumtoxinA Phase 2
12 Peripheral Nervous System Agents Phase 2
13 Angiogenesis Inhibitors Phase 2
14 Angiogenesis Modulating Agents Phase 2
15
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
16 Protein Kinase Inhibitors Phase 2
17 Hypoglycemic Agents Phase 1, Phase 2
18 Antimetabolites Phase 2
19 Antimetabolites, Antineoplastic Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Randomized Pilot Study for the Treatment of Cutaneous Leiomyomas With Botulinum Toxin Completed NCT00971620 Phase 2
2 A Phase II Study of Bevacizumab and Erlotinib in Subjects With Advanced Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) or Sporadic Papillary Renal Cell Cancer Recruiting NCT01130519 Phase 2 Bevacizumab;Erlotinib
3 Vandetanib in Combination With Metformin in People With HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell Carcinoma Recruiting NCT02495103 Phase 1, Phase 2 Vandetanib;Metformin
4 A 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 Cancer Recruiting NCT03165721 Phase 2 SGI-110 (guadecitabine)
5 Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer Recruiting NCT00050752

Search NIH Clinical Center for Leiomyomatosis and Renal Cell Cancer

Genetic Tests for Leiomyomatosis and Renal Cell Cancer

Genetic tests related to Leiomyomatosis and Renal Cell Cancer:

id Genetic test Affiliating Genes
1 Hereditary Leiomyomatosis and Renal Cell Cancer 29 24 FH
2 Multiple Cutaneous Leiomyomas 29
3 Leiomyomatosis Familial 29

Anatomical Context for Leiomyomatosis and Renal Cell Cancer

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

39
Uterus, Kidney, Skin, Smooth Muscle, Lymph Node

Publications for Leiomyomatosis and Renal Cell Cancer

Articles related to Leiomyomatosis and Renal Cell Cancer:

(show all 47)
id Title Authors Year
1
Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach. ( 28400389 )
2017
2
Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review. ( 28314682 )
2017
3
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 28700432 )
2017
4
Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome). ( 28884140 )
2017
5
Hereditary leiomyomatosis and renal cell cancer syndrome: A novel mutation in the FH gene. ( 28691741 )
2017
6
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum. ( 28400895 )
2016
7
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
8
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
9
First Presentation of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Pregnancy. ( 26902252 )
2016
10
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
11
Case 221: Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 26302393 )
2015
12
Hereditary leiomyomatosis and renal cell cancer syndrome. ( 26323704 )
2015
13
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer. ( 26493120 )
2015
14
Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia typeA 1 (HT1). ( 26551707 )
2015
15
Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion? ( 26380143 )
2015
16
Myopathy in hereditary leiomyomatosis and renal cell cancer in an extended family. ( 25354562 )
2014
17
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
18
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. ( 25012257 )
2014
19
Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer. ( 22982371 )
2013
20
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance. ( 22086304 )
2012
21
Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. ( 22565324 )
2012
22
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
23
Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. ( 22127509 )
2012
24
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. ( 20618355 )
2011
25
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
26
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. ( 21404119 )
2011
27
A case report of hereditary leiomyomatosis and renal cell cancer. ( 20510956 )
2010
28
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
29
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? ( 19183174 )
2009
30
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer. ( 19276158 )
2009
31
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
32
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. ( 19075141 )
2008
33
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). ( 17908262 )
2008
34
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. ( 17392716 )
2007
35
Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. ( 17287871 )
2007
36
Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. ( 17509289 )
2007
37
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer. ( 17383644 )
2007
38
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. ( 15937070 )
2006
39
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. ( 16597677 )
2006
40
Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer. ( 16948378 )
2006
41
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation. ( 17034471 )
2006
42
Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome. ( 15586379 )
2005
43
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. ( 16237213 )
2005
44
Hereditary leiomyomatosis and renal cell cancer (HLRCC). ( 15579034 )
2004
45
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. ( 12772087 )
2003
46
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. ( 12183404 )
2002
47
Hereditary Leiomyomatosis and Renal Cell Cancer ( 20301430 )
1993

Variations for Leiomyomatosis and Renal Cell Cancer

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

71
id Symbol AA change Variation ID SNP ID
1 FH p.Lys230Arg VAR_002445 rs752232718
2 FH p.Asn107Thr VAR_013497 rs121913121
3 FH p.Ala117Pro VAR_013498
4 FH p.His180Arg VAR_013499 rs863224015
5 FH p.Gln185Arg VAR_013500 rs779707997
6 FH p.Arg233His VAR_013501 rs28933069
7 FH p.Gly282Val VAR_013502
8 FH p.Met328Arg VAR_013503

ClinVar genetic disease variations for Leiomyomatosis and Renal Cell Cancer:

6 (show all 50)
id Gene Variation Type Significance SNP ID Assembly Location
1 FH NM_000143.3(FH): c.301C> T (p.Arg101Ter) single nucleotide variant Pathogenic rs121913120 GRCh37 Chromosome 1, 241676980: 241676980
2 FH NM_000143.3(FH): c.671_672delAG (p.Glu224Valfs) deletion Pathogenic rs780001199 GRCh37 Chromosome 1, 241671969: 241671970
3 FH NM_000143.3(FH): c.1027C> T (p.Arg343Ter) single nucleotide variant Pathogenic rs121913122 GRCh37 Chromosome 1, 241667423: 241667423
4 FH NM_000143.3(FH): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic rs121913123 GRCh37 Chromosome 1, 241671943: 241671943
5 FH NM_000143.3(FH): c.698G> T (p.Arg233Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913123 GRCh37 Chromosome 1, 241671943: 241671943
6 FH NM_000143.3(FH): c.302G> C (p.Arg101Pro) single nucleotide variant Pathogenic/Likely pathogenic rs75086406 GRCh37 Chromosome 1, 241676979: 241676979
7 FH NM_000143.3(FH): c.1126C> T (p.Gln376Ter) single nucleotide variant Pathogenic rs398123160 GRCh37 Chromosome 1, 241665853: 241665853
8 FH NM_000143.3(FH): c.1255T> C (p.Ser419Pro) single nucleotide variant Pathogenic/Likely pathogenic rs200004220 GRCh37 Chromosome 1, 241663872: 241663872
9 FH NM_000143.3(FH): c.1293delA (p.Glu432Lysfs) deletion Pathogenic rs398123163 GRCh37 Chromosome 1, 241663834: 241663834
10 FH NM_000143.3(FH): c.320A> C (p.Asn107Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121913121 GRCh37 Chromosome 1, 241676961: 241676961
11 FH NM_000143.3(FH): c.560C> G (p.Ser187Ter) single nucleotide variant Pathogenic rs398123166 GRCh37 Chromosome 1, 241672081: 241672081
12 FH NM_000143.3(FH): c.952C> T (p.His318Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs398123168 GRCh37 Chromosome 1, 241667498: 241667498
13 FH NM_000143.3(FH): c.697C> T (p.Arg233Cys) single nucleotide variant Pathogenic rs587781682 GRCh37 Chromosome 1, 241671944: 241671944
14 FH NM_000143.3(FH): c.1067T> A (p.Leu356Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503927 GRCh38 Chromosome 1, 241504083: 241504083
15 FH NM_000143.3(FH): c.556-1G> C single nucleotide variant Pathogenic rs794727698 GRCh37 Chromosome 1, 241672086: 241672086
16 FH NM_000143.3(FH): c.912_918delTTTTGTC (p.Phe305Leufs) deletion Pathogenic rs794727836 GRCh37 Chromosome 1, 241667532: 241667538
17 FH NM_000143.3(FH): c.1210G> T (p.Glu404Ter) single nucleotide variant Pathogenic rs797044974 GRCh38 Chromosome 1, 241502469: 241502469
18 FH NM_000143.3(FH): c.905-1G> A single nucleotide variant Pathogenic rs797044973 GRCh38 Chromosome 1, 241504246: 241504246
19 FH NM_000143.3(FH): c.1394A> G (p.Tyr465Cys) single nucleotide variant Likely pathogenic rs863224010 GRCh37 Chromosome 1, 241661267: 241661267
20 FH NM_000143.3(FH): c.1189G> A (p.Gly397Arg) single nucleotide variant Pathogenic rs863224007 GRCh38 Chromosome 1, 241502490: 241502490
21 FH NM_000143.3(FH): c.1093A> G (p.Ser365Gly) single nucleotide variant Pathogenic/Likely pathogenic rs863223966 GRCh38 Chromosome 1, 241504057: 241504057
22 FH NM_000143.3(FH): c.1083_1086delTGAA (p.Glu362Glnfs) deletion Pathogenic rs756469140 GRCh37 Chromosome 1, 241667364: 241667367
23 FH NM_000143.3(FH): c.554A> G (p.Gln185Arg) single nucleotide variant Likely pathogenic rs779707997 GRCh38 Chromosome 1, 241511968: 241511968
24 FH NM_000143.3(FH): c.395_399delTAAAT (p.Leu132Terfs) deletion Pathogenic rs863223995 GRCh37 Chromosome 1, 241675423: 241675427
25 FH NM_000143.3(FH): c.139C> T (p.Gln47Ter) single nucleotide variant Pathogenic rs863223980 GRCh37 Chromosome 1, 241680610: 241680610
26 FH NM_000143.3(FH): c.133-1G> A single nucleotide variant Pathogenic rs863224011 GRCh38 Chromosome 1, 241517317: 241517317
27 FH NM_000143.3(FH): c.267+1G> C single nucleotide variant Pathogenic rs878853691 GRCh37 Chromosome 1, 241680481: 241680481
28 FH NM_000143.3(FH): c.1500G> A (p.Trp500Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886039368 GRCh37 Chromosome 1, 241661161: 241661161
29 FH NM_000143.3(FH): c.1469delG (p.Gly490Alafs) deletion Likely pathogenic rs1060499645 GRCh38 Chromosome 1, 241497892: 241497892
30 FH NM_000143.3(FH): c.1298_1340dup43 (p.Met449Argfs) duplication Pathogenic GRCh38 Chromosome 1, 241500487: 241500529
31 FH NM_000143.3(FH): c.1209delT (p.Phe403Leufs) deletion Pathogenic rs1060499644 GRCh38 Chromosome 1, 241502470: 241502470
32 FH NM_000143.3(FH): c.1138dupA (p.Met380Asnfs) duplication Pathogenic GRCh37 Chromosome 1, 241665841: 241665841
33 FH NM_000143.3(FH): c.1118A> G (p.Asn373Ser) single nucleotide variant Pathogenic rs1060499643 GRCh38 Chromosome 1, 241502561: 241502561
34 FH NM_000143.3(FH): c.1063G> T (p.Glu355Ter) single nucleotide variant Pathogenic rs1060499642 GRCh38 Chromosome 1, 241504087: 241504087
35 FH NM_000143.3(FH): c.1041delT (p.Gly348Valfs) deletion Pathogenic rs1060499641 GRCh38 Chromosome 1, 241504109: 241504109
36 FH NM_000143.3(FH): c.820G> C (p.Ala274Pro) single nucleotide variant Likely pathogenic rs1060499638 GRCh38 Chromosome 1, 241506087: 241506087
37 FH NM_000143.3(FH): c.808delT (p.Tyr270Metfs) deletion Pathogenic rs1060499637 GRCh37 Chromosome 1, 241669399: 241669399
38 FH NM_000143.3(FH): c.722_738+3del deletion Pathogenic rs1064792900 GRCh38 Chromosome 1, 241508600: 241508619
39 FH NM_000143.3(FH): c.731T> G (p.Leu244Arg) single nucleotide variant Likely pathogenic rs1060499636 GRCh38 Chromosome 1, 241508610: 241508610
40 FH NM_000143.3(FH): c.703C> G (p.His235Asp) single nucleotide variant Likely pathogenic rs863223968 GRCh38 Chromosome 1, 241508638: 241508638
41 FH NM_000143.3(FH): c.578_583delCAGCAA (p.Thr193_Ala194del) deletion Likely pathogenic rs1060499635 GRCh38 Chromosome 1, 241508758: 241508763
42 FH NM_000143.3(FH): c.556-2A> T single nucleotide variant Pathogenic rs750273092 GRCh38 Chromosome 1, 241508787: 241508787
43 FH NM_000143.3(FH): c.553_554insTG (p.Gln185Leufs) insertion Pathogenic rs768182640 GRCh38 Chromosome 1, 241511968: 241511969
44 FH NM_000143.3(FH): c.524delT (p.Val175Glyfs) deletion Pathogenic rs1060499634 GRCh38 Chromosome 1, 241511998: 241511998
45 FH NM_000143.3(FH): c.439dupA (p.Thr147Asnfs) duplication Pathogenic GRCh38 Chromosome 1, 241512083: 241512083
46 FH NM_000143.3(FH): c.395delT (p.Leu132Terfs) deletion Pathogenic rs1060499631 GRCh38 Chromosome 1, 241512127: 241512127
47 FH NM_000143.3(FH): c.322C> T (p.Gln108Ter) single nucleotide variant Pathogenic rs1060499630 GRCh37 Chromosome 1, 241676959: 241676959
48 FH NM_000143.3(FH): c.267+1_267+10delGTAAGTGGCA deletion Pathogenic rs1060499629 GRCh38 Chromosome 1, 241517172: 241517181
49 FH NM_000143.3(FH): c.239dupA (p.Ile81Aspfs) duplication Pathogenic GRCh38 Chromosome 1, 241517210: 241517210
50 FH NM_000143.3(FH): c.157G> T (p.Glu53Ter) single nucleotide variant Pathogenic rs863224013 GRCh37 Chromosome 1, 241680592: 241680592

Cosmic variations for Leiomyomatosis and Renal Cell Cancer:

9 (show top 50) (show all 380)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 37
2 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 37
3 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 37
4 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 37
5 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 37
6 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 37
7 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 37
8 COSM27618 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 37
9 COSM30502 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 37
10 COSM28415 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 37
11 COSM30531 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 37
12 COSM25654 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 37
13 COSM30471 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 37
14 COSM5012058 ZNF462 kidney,NS,carcinoma,papillary renal cell carcinoma c.7085G>A p.R2362Q 8
15 COSM5010682 ZNF281 kidney,NS,carcinoma,papillary renal cell carcinoma c.2093C>T p.P698L 8
16 COSM5013462 ZNF225 kidney,NS,carcinoma,papillary renal cell carcinoma c.1187G>T p.G396V 8
17 COSM5011020 ZNF142 kidney,NS,carcinoma,papillary renal cell carcinoma c.3322G>T p.D1108Y 8
18 COSM5014655 ZBTB2 kidney,NS,carcinoma,papillary renal cell carcinoma c.931G>A p.E311K 8
19 COSM5012645 XPO4 kidney,NS,carcinoma,papillary renal cell carcinoma c.1218C>A p.F406L 8
20 COSM2888871 XKR7 kidney,NS,carcinoma,papillary renal cell carcinoma c.1409C>T p.T470M 8
21 COSM5012777 WDR89 kidney,NS,carcinoma,papillary renal cell carcinoma c.260C>A p.S87* 8
22 COSM17807 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.264G>C p.W88C 8
23 COSM17808 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.443T>C p.F148S 8
24 COSM30286 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.473T>G p.L158R 8
25 COSM18070 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.263G>A p.W88* 8
26 COSM18346 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.341G>C p.G114A 8
27 COSM17917 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.523T>G p.Y175D 8
28 COSM25670 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.556G>T p.E186* 8
29 COSM14311 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.499C>T p.R167W 8
30 COSM5015677 VAPB kidney,NS,carcinoma,papillary renal cell carcinoma c.149G>A p.R50H 8
31 COSM30316 USP24 kidney,NS,carcinoma,papillary renal cell carcinoma c.5867A>G p.Y1956C 8
32 COSM5011185 UROC1 kidney,NS,carcinoma,papillary renal cell carcinoma c.401A>G p.N134S 8
33 COSM30400 UBR4 kidney,NS,carcinoma,papillary renal cell carcinoma c.8588C>T p.A2863V 8
34 COSM5015711 TXNRD2 kidney,NS,carcinoma,papillary renal cell carcinoma c.1017G>T p.Q339H 8
35 COSM5017221 TRRAP kidney,NS,carcinoma,papillary renal cell carcinoma c.5182A>G p.I1728V 8
36 COSM44097 TP53 skin,face,carcinoma,NS c.530C>T p.P177L 8
37 COSM43920 TP53 skin,face,carcinoma,NS c.680C>T p.S227F 8
38 COSM43582 TP53 skin,face,carcinoma,NS c.454C>T p.P152S 8
39 COSM44436 TP53 skin,face,carcinoma,NS c.375+2T>C p.? 8
40 COSM10705 TP53 skin,face,carcinoma,NS c.586C>T p.R196* 8
41 COSM10812 TP53 skin,arm,carcinoma,NS c.722C>T p.S241F 8
42 COSM10726 TP53 skin,face,carcinoma,NS c.856G>A p.E286K 8
43 COSM43596 TP53 skin,face,carcinoma,NS c.841G>A p.D281N 8
44 COSM10654 TP53 skin,face,carcinoma,NS c.637C>T p.R213* 8
45 COSM10749 TP53 skin,face,carcinoma,NS c.830G>T p.C277F 8
46 COSM11084 TP53 skin,face,carcinoma,NS c.517G>A p.V173M 8
47 COSM10656 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 8
48 COSM10887 TP53 skin,face,carcinoma,NS c.833C>G p.P278R 8
49 COSM44241 TP53 skin,face,carcinoma,NS c.592G>T p.E198* 8
50 COSM43665 TP53 skin,face,carcinoma,NS c.746G>C p.R249T 8

Expression for Leiomyomatosis and Renal Cell Cancer

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

Pathways for Leiomyomatosis and Renal Cell Cancer

GO Terms for Leiomyomatosis and Renal Cell Cancer

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of angiogenesis GO:0045766 9.52 HIF1A NFE2L2
2 cerebral cortex development GO:0021987 9.51 BNIP3 HIF1A
3 response to hypoxia GO:0001666 9.5 BNIP3 HIF1A LDHA
4 negative regulation of cell death GO:0060548 9.49 BNIP3 NFE2L2
5 cellular response to hydrogen peroxide GO:0070301 9.48 BNIP3 NFE2L2
6 positive regulation of autophagy GO:0010508 9.46 BNIP3 HIF1A
7 tricarboxylic acid cycle GO:0006099 9.43 FH SDHB
8 cellular response to hypoxia GO:0071456 9.43 BNIP3 HIF1A NFE2L2
9 positive regulation of macroautophagy GO:0016239 9.4 BNIP3 HIF1A
10 negative regulation of reactive oxygen species metabolic process GO:2000378 9.37 BNIP3 HIF1A
11 regulation of aerobic respiration GO:1903715 9.16 BNIP3 HIF1A
12 positive regulation of mitophagy GO:1903599 8.96 BNIP3 HIF1A
13 lactate metabolic process GO:0006089 8.62 HIF1A LDHA

Sources for Leiomyomatosis and Renal Cell Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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34 ICD10 via Orphanet
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