MCID: HRD029
MIFTS: 56

Hereditary Leiomyomatosis and Renal Cell Cancer

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

Aliases & Classifications for Hereditary Leiomyomatosis and Renal Cell Cancer

MalaCards integrated aliases for Hereditary Leiomyomatosis and Renal Cell Cancer:

Name: Hereditary Leiomyomatosis and Renal Cell Cancer 57 24 53 25 59 75 73
Hlrcc 57 24 53 25 59 75 55
Multiple Cutaneous and Uterine Leiomyomata 53 25 75 37
Leiomyomatosis and Renal Cell Cancer 57 25 13 40
Lrcc 57 53 25 75
Mcl 57 53 25 75
Mcul 53 25 59
Multiple Cutaneous and Uterine Leiomyomas 59 6
Multiple Cutaneous Leiomyomas 29 6
Leiomyomatosis Familial 53 29
Reed's Syndrome 53 25
Mcul1 57 75
Multiple Cutaneous and Uterine Leiomyomata 1, with or Without Renal Cell Carcinoma; Mcul1 57
Multiple Cutaneous and Uterine Leiomyomata 1, with or Without Renal Cell Carcinoma 57
Multiple Cutaneous and Uterine Leiomyomata 1 with or Without Renal Cell Carcinoma 75
Leiomyomatosis and Renal Cell Cancer, Hereditary; Lrcc 57
Hereditary Leiomyomatosis and Renal Cell Carcinoma 25
Leiomyomatosis and Renal Cell Cancer, Hereditary 57
Leiomyomatosis and Renal Cell Cancer Hereditary 75
Hereditary Leiomyomatosis with Renal Carcinoma 59
Familial Leiomyomatosis and Renal Cell Cancer 59
Familial Leiomyomatosis with Renal Carcinoma 59
Hereditary Multiple Cutaneous Leiomyomas 59
Familial Leiomyomatosis Cutis Et Uteri 59
Familial Multiple Cutaneous Leiomyomas 59
Leiomyoma, Multiple Cutaneous; Mcl 57
Multiple Cutaneous Leiomyomata 53
Leiomyoma, Multiple Cutaneous 57
Multiple Cutaneous Leiomyoma 25
Leiomyoma Multiple Cutaneous 75
Hereditary Leiomyomatosis 59
Familial Leiomyomatosis 53
Reed Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
hereditary leiomyomatosis and renal cell cancer
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Elderly;

OMIM:

57
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
hereditary leiomyomatosis and renal cell cancer:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


GeneReviews:

24
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 Hereditary Leiomyomatosis and Renal Cell Cancer

OMIM : 57 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 : Hereditary Leiomyomatosis and Renal Cell Cancer, also known as hlrcc, is related to leiomyomatosis and renal cell carcinoma, nonpapillary, and has symptoms including flank pain An important gene associated with Hereditary Leiomyomatosis and Renal Cell Cancer is FH (Fumarate Hydratase), and among its related pathways/superpathways are Citrate cycle (TCA cycle) and Metabolic pathways. 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 cataract and pruritus

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

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.

Wikipedia : 76 Reed’s syndrome (or familial leiomyomatosis cutis et uteri) is a rare inherited condition characterised... more...

GeneReviews: NBK1252

Related Diseases for Hereditary Leiomyomatosis and Renal Cell Cancer

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 leiomyomatosis 30.3 FH SDHB
2 renal cell carcinoma, nonpapillary 28.7 FH HIF1A SDHB
3 renal cell carcinoma, papillary, 1 11.5
4 night blindness-skeletal anomalies-dysmorphism syndrome 11.2
5 kidney cancer 10.3
6 leiomyoma 10.3
7 leiomyoma, uterine 10.1
8 leiomyoma cutis 10.1
9 fumarate hydratase deficiency 10.0 FH HIF1A
10 familial renal papillary carcinoma 10.0 FH HIF1A
11 aging 10.0
12 basal cell carcinoma 1 10.0
13 melanoma 10.0
14 basal cell carcinoma 10.0
15 myopathy 10.0
16 hemangioblastoma 10.0
17 tyrosinemia 10.0
18 encephalitis 10.0
19 hypoxia 10.0
20 hereditary paraganglioma-pheochromocytoma syndromes 9.5 FH SDHB
21 von hippel-lindau syndrome 9.0 HIF1A SDHB

Graphical network of the top 20 diseases related to Hereditary Leiomyomatosis and Renal Cell Cancer:



Diseases related to Hereditary Leiomyomatosis and Renal Cell Cancer

Symptoms & Phenotypes for Hereditary Leiomyomatosis and Renal Cell Cancer

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
uterine leiomyosarcoma
uterine leiomyomata
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 Hereditary Leiomyomatosis and Renal Cell Cancer:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
2 pruritus 59 32 frequent (33%) Frequent (79-30%) HP:0000989
3 abnormality of the musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003011
4 uterine leiomyoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000131
5 vaginal neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0100650
6 uterine leiomyosarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002891
7 papillary renal cell carcinoma type 2 59 32 occasional (7.5%) Occasional (29-5%) HP:0006732
8 multiple cutaneous leiomyomas 59 32 hallmark (90%) Very frequent (99-80%) HP:0007437
9 cutaneous leiomyoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007620
10 barrett esophagus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100580
11 renal cell carcinoma 32 HP:0005584
12 esophageal neoplasm 59 Occasional (29-5%)
13 decreased fumarate hydratase activity 32 HP:0003536
14 cutaneous leiomyosarcoma 32 occasional (7.5%) HP:0006755

UMLS symptoms related to Hereditary Leiomyomatosis and Renal Cell Cancer:


flank pain

MGI Mouse Phenotypes related to Hereditary Leiomyomatosis and Renal Cell Cancer:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.72 NFE2L2 SDHB BNIP3 HIF1A LDHA
2 hematopoietic system MP:0005397 9.65 BNIP3 HIF1A LDHA NFE2L2 SDHB
3 homeostasis/metabolism MP:0005376 9.63 BNIP3 FH HIF1A LDHA NFE2L2 SDHB
4 neoplasm MP:0002006 9.26 HIF1A LDHA NFE2L2 SDHB
5 renal/urinary system MP:0005367 8.92 FH HIF1A NFE2L2 SDHB

Drugs & Therapeutics for Hereditary Leiomyomatosis and Renal Cell Cancer

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

(show all 16)
# 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 abobotulinumtoxinA Phase 2
5 Botulinum Toxins Phase 2
6 Botulinum Toxins, Type A Phase 2
7 Cholinergic Agents Phase 2
8 Neuromuscular Agents Phase 2
9 Neurotransmitter Agents Phase 2
10 onabotulinumtoxinA Phase 2
11 Peripheral Nervous System Agents Phase 2
12 Angiogenesis Inhibitors Phase 2
13 Angiogenesis Modulating Agents Phase 2
14
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
15 Protein Kinase Inhibitors Phase 2
16 Hypoglycemic Agents Phase 1, Phase 2

Interventional clinical trials:


# 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;Vandetanib/Metformin

Search NIH Clinical Center for Hereditary Leiomyomatosis and Renal Cell Cancer

Genetic Tests for Hereditary Leiomyomatosis and Renal Cell Cancer

Genetic tests related to Hereditary Leiomyomatosis and Renal Cell Cancer:

# Genetic test Affiliating Genes
1 Multiple Cutaneous Leiomyomas 29 FH
2 Leiomyomatosis Familial 29

Anatomical Context for Hereditary Leiomyomatosis and Renal Cell Cancer

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

41
Uterus, Kidney, Skin, Smooth Muscle, Lymph Node

Publications for Hereditary Leiomyomatosis and Renal Cell Cancer

Articles related to Hereditary Leiomyomatosis and Renal Cell Cancer:

(show top 50) (show all 54)
# Title Authors Year
1
Gene expression analysis in peripheral blood cells of patients with hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC): identification of NRF2 pathway activation. ( 29302811 )
2018
2
Nivolumab-Induced Encephalitis in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 29593922 )
2018
3
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes. ( 29619618 )
2018
4
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC). ( 29423582 )
2018
5
FH inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction. ( 29917289 )
2018
6
Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review. ( 28314682 )
2017
7
Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome). ( 28884140 )
2017
8
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 28700432 )
2017
9
Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids. ( 29593997 )
2017
10
Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach. ( 28400389 )
2017
11
Hereditary leiomyomatosis and renal cell cancer syndrome: a family affair. ( 28122802 )
2017
12
Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma. ( 28195105 )
2017
13
Hereditary leiomyomatosis and renal cell cancer syndrome: A novel mutation in the FH gene. ( 28691741 )
2017
14
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
15
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
16
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
17
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum. ( 28400895 )
2016
18
First Presentation of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Pregnancy. ( 26902252 )
2016
19
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer. ( 26493120 )
2015
20
Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia typeA 1 (HT1). ( 26551707 )
2015
21
Case 221: Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 26302393 )
2015
22
Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion? ( 26380143 )
2015
23
Hereditary leiomyomatosis and renal cell cancer syndrome. ( 26323704 )
2015
24
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. ( 25012257 )
2014
25
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
26
Myopathy in hereditary leiomyomatosis and renal cell cancer in an extended family. ( 25354562 )
2014
27
Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer. ( 22982371 )
2013
28
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance. ( 22086304 )
2012
29
Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. ( 22127509 )
2012
30
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
31
Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. ( 22565324 )
2012
32
[Hereditary leiomyomatosis and renal cell cancer - HLRCC/multiple cutaneous and uterine leimomyomatosis - MCUL]. ( 22920208 )
2012
33
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. ( 20618355 )
2011
34
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. ( 21404119 )
2011
35
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
36
A case report of hereditary leiomyomatosis and renal cell cancer. ( 20510956 )
2010
37
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
38
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer. ( 19276158 )
2009
39
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? ( 19183174 )
2009
40
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. ( 19075141 )
2008
41
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). ( 17908262 )
2008
42
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer. ( 17383644 )
2007
43
Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. ( 17509289 )
2007
44
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. ( 17392716 )
2007
45
Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. ( 17287871 )
2007
46
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. ( 16597677 )
2006
47
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. ( 15937070 )
2006
48
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation. ( 17034471 )
2006
49
Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer. ( 16948378 )
2006
50
Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome. ( 15586379 )
2005

Variations for Hereditary Leiomyomatosis and Renal Cell Cancer

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

75
# 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 rs886039363
4 FH p.His180Arg VAR_013499 rs863224015
5 FH p.Gln185Arg VAR_013500 rs779707997
6 FH p.Arg233His VAR_013501 rs121913123
7 FH p.Gly282Val VAR_013502 rs935002190
8 FH p.Met328Arg VAR_013503

ClinVar genetic disease variations for Hereditary Leiomyomatosis and Renal Cell Cancer:

6
(show top 50) (show all 182)
# 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.301C> T (p.Arg101Ter) single nucleotide variant Pathogenic rs121913120 GRCh38 Chromosome 1, 241513680: 241513680
3 FH NM_000143.3(FH): c.671_672delAG (p.Glu224Valfs) deletion Pathogenic rs780001199 GRCh37 Chromosome 1, 241671969: 241671970
4 FH NM_000143.3(FH): c.671_672delAG (p.Glu224Valfs) deletion Pathogenic rs780001199 GRCh38 Chromosome 1, 241508669: 241508670
5 FH NM_000143.3(FH): c.1027C> T (p.Arg343Ter) single nucleotide variant Pathogenic rs121913122 GRCh37 Chromosome 1, 241667423: 241667423
6 FH NM_000143.3(FH): c.1027C> T (p.Arg343Ter) single nucleotide variant Pathogenic rs121913122 GRCh38 Chromosome 1, 241504123: 241504123
7 FH NM_000143.3(FH): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic rs121913123 GRCh37 Chromosome 1, 241671943: 241671943
8 FH NM_000143.3(FH): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic rs121913123 GRCh38 Chromosome 1, 241508643: 241508643
9 FH NM_000143.3(FH): c.698G> T (p.Arg233Leu) single nucleotide variant Likely pathogenic rs121913123 GRCh37 Chromosome 1, 241671943: 241671943
10 FH NM_000143.3(FH): c.698G> T (p.Arg233Leu) single nucleotide variant Likely pathogenic rs121913123 GRCh38 Chromosome 1, 241508643: 241508643
11 FH NM_000143.3(FH): c.302G> C (p.Arg101Pro) single nucleotide variant Likely pathogenic rs75086406 GRCh37 Chromosome 1, 241676979: 241676979
12 FH NM_000143.3(FH): c.302G> C (p.Arg101Pro) single nucleotide variant Likely pathogenic rs75086406 GRCh38 Chromosome 1, 241513679: 241513679
13 FH NM_000143.3(FH): c.1126C> T (p.Gln376Ter) single nucleotide variant Pathogenic rs398123160 GRCh37 Chromosome 1, 241665853: 241665853
14 FH NM_000143.3(FH): c.1126C> T (p.Gln376Ter) single nucleotide variant Pathogenic rs398123160 GRCh38 Chromosome 1, 241502553: 241502553
15 FH NM_000143.3(FH): c.1255T> C (p.Ser419Pro) single nucleotide variant Pathogenic/Likely pathogenic rs200004220 GRCh37 Chromosome 1, 241663872: 241663872
16 FH NM_000143.3(FH): c.1255T> C (p.Ser419Pro) single nucleotide variant Pathogenic/Likely pathogenic rs200004220 GRCh38 Chromosome 1, 241500572: 241500572
17 FH NM_000143.3(FH): c.1293delA (p.Glu432Lysfs) deletion Pathogenic rs398123163 GRCh37 Chromosome 1, 241663834: 241663834
18 FH NM_000143.3(FH): c.1293delA (p.Glu432Lysfs) deletion Pathogenic rs398123163 GRCh38 Chromosome 1, 241500534: 241500534
19 FH NM_000143.3(FH): c.320A> C (p.Asn107Thr) single nucleotide variant Pathogenic rs121913121 GRCh37 Chromosome 1, 241676961: 241676961
20 FH NM_000143.3(FH): c.320A> C (p.Asn107Thr) single nucleotide variant Pathogenic rs121913121 GRCh38 Chromosome 1, 241513661: 241513661
21 FH NM_000143.3(FH): c.560C> G (p.Ser187Ter) single nucleotide variant Pathogenic rs398123166 GRCh37 Chromosome 1, 241672081: 241672081
22 FH NM_000143.3(FH): c.560C> G (p.Ser187Ter) single nucleotide variant Pathogenic rs398123166 GRCh38 Chromosome 1, 241508781: 241508781
23 FH NM_000143.3(FH): c.952C> T (p.His318Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs398123168 GRCh37 Chromosome 1, 241667498: 241667498
24 FH NM_000143.3(FH): c.952C> T (p.His318Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs398123168 GRCh38 Chromosome 1, 241504198: 241504198
25 FH NM_000143.3(FH): c.697C> T (p.Arg233Cys) single nucleotide variant Pathogenic rs587781682 GRCh37 Chromosome 1, 241671944: 241671944
26 FH NM_000143.3(FH): c.697C> T (p.Arg233Cys) single nucleotide variant Pathogenic rs587781682 GRCh38 Chromosome 1, 241508644: 241508644
27 FH NM_000143.3(FH): c.1067T> A (p.Leu356Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503927 GRCh37 Chromosome 1, 241667383: 241667383
28 FH NM_000143.3(FH): c.1067T> A (p.Leu356Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503927 GRCh38 Chromosome 1, 241504083: 241504083
29 FH NM_000143.3(FH): c.1154C> A (p.Ala385Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs727503926 GRCh37 Chromosome 1, 241665825: 241665825
30 FH NM_000143.3(FH): c.1154C> A (p.Ala385Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs727503926 GRCh38 Chromosome 1, 241502525: 241502525
31 FH NM_000143.3(FH): c.305C> T (p.Ala102Val) single nucleotide variant Uncertain significance rs61753295 GRCh37 Chromosome 1, 241676976: 241676976
32 FH NM_000143.3(FH): c.305C> T (p.Ala102Val) single nucleotide variant Uncertain significance rs61753295 GRCh38 Chromosome 1, 241513676: 241513676
33 FH NM_000143.3(FH): c.122C> T (p.Ala41Val) single nucleotide variant Likely benign rs201486221 GRCh37 Chromosome 1, 241682901: 241682901
34 FH NM_000143.3(FH): c.122C> T (p.Ala41Val) single nucleotide variant Likely benign rs201486221 GRCh38 Chromosome 1, 241519601: 241519601
35 FH NM_000143.3(FH): c.63C> T (p.Ala21=) single nucleotide variant Likely benign rs555404867 GRCh37 Chromosome 1, 241682960: 241682960
36 FH NM_000143.3(FH): c.63C> T (p.Ala21=) single nucleotide variant Likely benign rs555404867 GRCh38 Chromosome 1, 241519660: 241519660
37 FH NM_000143.3(FH): c.556-1G> C single nucleotide variant Pathogenic rs794727698 GRCh37 Chromosome 1, 241672086: 241672086
38 FH NM_000143.3(FH): c.556-1G> C single nucleotide variant Pathogenic rs794727698 GRCh38 Chromosome 1, 241508786: 241508786
39 FH NM_000143.3(FH): c.892G> C (p.Ala298Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs201395553 GRCh37 Chromosome 1, 241669315: 241669315
40 FH NM_000143.3(FH): c.892G> C (p.Ala298Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs201395553 GRCh38 Chromosome 1, 241506015: 241506015
41 FH NM_000143.3(FH): c.912_918delTTTTGTC (p.Phe305Leufs) deletion Pathogenic rs794727836 GRCh37 Chromosome 1, 241667532: 241667538
42 FH NM_000143.3(FH): c.912_918delTTTTGTC (p.Phe305Leufs) deletion Pathogenic rs794727836 GRCh38 Chromosome 1, 241504232: 241504238
43 FH NM_000143.3(FH): c.1210G> T (p.Glu404Ter) single nucleotide variant Pathogenic rs797044974 GRCh38 Chromosome 1, 241502469: 241502469
44 FH NM_000143.3(FH): c.1210G> T (p.Glu404Ter) single nucleotide variant Pathogenic rs797044974 GRCh37 Chromosome 1, 241665769: 241665769
45 FH NM_000143.3(FH): c.905-1G> A single nucleotide variant Pathogenic rs797044973 GRCh38 Chromosome 1, 241504246: 241504246
46 FH NM_000143.3(FH): c.905-1G> A single nucleotide variant Pathogenic rs797044973 GRCh37 Chromosome 1, 241667546: 241667546
47 FH NM_000143.3(FH): c.1424C> A (p.Ala475Glu) single nucleotide variant Uncertain significance rs863224012 GRCh38 Chromosome 1, 241497937: 241497937
48 FH NM_000143.3(FH): c.1424C> A (p.Ala475Glu) single nucleotide variant Uncertain significance rs863224012 GRCh37 Chromosome 1, 241661237: 241661237
49 FH NM_000143.3(FH): c.1394A> G (p.Tyr465Cys) single nucleotide variant Likely pathogenic rs863224010 GRCh37 Chromosome 1, 241661267: 241661267
50 FH NM_000143.3(FH): c.1394A> G (p.Tyr465Cys) single nucleotide variant Likely pathogenic rs863224010 GRCh38 Chromosome 1, 241497967: 241497967

Cosmic variations for Hereditary Leiomyomatosis and Renal Cell Cancer:

9
(show top 50) (show all 995)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 44
2 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 3:124737785-124737785 44
3 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 5:14508136-14508136 44
4 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 2:7020581-7020581 44
5 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 44
6 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 9:123020414-123020414 44
7 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 44
8 COSM27618 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 11:118497991-118497991 44
9 COSM30502 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 6:33682621-33682621 44
10 COSM28415 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 10:127023241-127023241 44
11 COSM30531 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 4:83049959-83049959 44
12 COSM25654 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 6:44419552-44419552 44
13 COSM30471 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 11:110586276-110586276 44
14 COSM6941466 XIAP kidney,NS,carcinoma,renal cell carcinoma c.563G>C p.G188A 23:123886225-123886225 14
15 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma c.353T>C p.L118P 3:10146526-10146526 14
16 COSM14380 VHL kidney,NS,carcinoma,renal cell carcinoma c.548C>A p.S183* 3:10149871-10149871 14
17 COSM18350 VHL kidney,NS,carcinoma,renal cell carcinoma c.256C>T p.P86S 3:10142103-10142103 14
18 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma c.292T>G p.Y98D 3:10142139-10142139 14
19 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma c.245G>C p.R82P 3:10142092-10142092 14
20 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma c.266T>A p.L89H 3:10142113-10142113 14
21 COSM17875 VHL kidney,NS,carcinoma,renal cell carcinoma c.234T>G p.N78K 3:10142081-10142081 14
22 COSM17983 VHL kidney,NS,carcinoma,renal cell carcinoma c.500G>A p.R167Q 3:10149823-10149823 14
23 COSM18097 VHL kidney,NS,carcinoma,renal cell carcinoma c.482G>A p.R161Q 3:10149805-10149805 14
24 COSM14425 VHL kidney,NS,carcinoma,renal cell carcinoma c.341-2A>T p.? 3:10146512-10146512 14
25 COSM17872 VHL kidney,NS,carcinoma,renal cell carcinoma c.217C>T p.Q73* 3:10142064-10142064 14
26 COSM6957851 TSC2 kidney,NS,carcinoma,renal cell carcinoma c.541G>A p.V181M 16:2055461-2055461 14
27 COSM6942356 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.2287C>T p.Q763* 9:132902709-132902709 14
28 COSM6963117 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.1001C>A p.S334* 9:132911481-132911481 14
29 COSM29770 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.508+1G>T p.? 9:132923347-132923347 14
30 COSM10656 TP53 kidney,NS,carcinoma,renal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 14
31 COSM45243 TP53 kidney,NS,carcinoma,renal cell carcinoma c.374C>G p.T125R 17:7675995-7675995 14
32 COSM10647 TP53 kidney,NS,carcinoma,renal cell carcinoma c.404G>T p.C135F 17:7675208-7675208 14
33 COSM44310 TP53 kidney,NS,carcinoma,renal cell carcinoma c.738G>A p.M246I 17:7674225-7674225 14
34 COSM6922197 TP53 kidney,NS,carcinoma,renal cell carcinoma c.97-2A>C p.? 17:7676274-7676274 14
35 COSM45135 TP53 kidney,NS,carcinoma,renal cell carcinoma c.673-1G>T p.? 17:7674291-7674291 14
36 COSM6929752 TBX3 kidney,NS,carcinoma,renal cell carcinoma c.510G>T p.W170C 12:114681026-114681026 14
37 COSM6979493 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.2096+1G>A p.? 23:124065947-124065947 14
38 COSM6975582 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.1348A>T p.R450* 23:124057909-124057909 14
39 COSM6023628 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.2860C>T p.R954C 23:124081464-124081464 14
40 COSM6963119 SPOP kidney,NS,carcinoma,renal cell carcinoma c.265T>G p.L89V 17:49619321-49619321 14
41 COSM6964939 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma c.987-2A>T p.? 22:23833570-23833570 14
42 COSM989 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma c.1130G>A p.R377H 22:23834152-23834152 14
43 COSM1266238 SMARCA4 kidney,NS,carcinoma,renal cell carcinoma c.3575G>A p.R1192H 19:11033318-11033318 14
44 COSM6947611 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.863C>A p.S288* 3:47122264-47122264 14
45 COSM6975580 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.4736C>G p.S1579* 3:47062211-47062211 14
46 COSM4118007 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.3266G>A p.R1089Q 3:47106061-47106061 14
47 COSM4794860 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.5922+1G>A p.? 3:47019759-47019759 14
48 COSM6925125 RBM10 kidney,NS,carcinoma,renal cell carcinoma c.179C>A p.S60* 23:47169476-47169476 14
49 COSM6922201 RBM10 kidney,NS,carcinoma,renal cell carcinoma c.299G>C p.G100A 23:47171125-47171125 14
50 COSM6947629 PTCH1 kidney,NS,carcinoma,renal cell carcinoma c.3616C>T p.R1206C 9:95449257-95449257 14

Expression for Hereditary Leiomyomatosis and Renal Cell Cancer

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

Pathways for Hereditary Leiomyomatosis and Renal Cell Cancer

Pathways related to Hereditary Leiomyomatosis and Renal Cell Cancer according to KEGG:

37
# Name Kegg Source Accession
1 Citrate cycle (TCA cycle) hsa00020
2 Metabolic pathways hsa01100

GO Terms for Hereditary Leiomyomatosis and Renal Cell Cancer

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell death GO:0060548 9.54 BNIP3 NFE2L2
2 response to hypoxia GO:0001666 9.54 BNIP3 HIF1A LDHA
3 cerebral cortex development GO:0021987 9.52 BNIP3 HIF1A
4 cellular response to hydrogen peroxide GO:0070301 9.51 BNIP3 NFE2L2
5 cellular response to hypoxia GO:0071456 9.5 BNIP3 HIF1A NFE2L2
6 positive regulation of blood vessel endothelial cell migration GO:0043536 9.49 HIF1A NFE2L2
7 positive regulation of autophagy GO:0010508 9.48 BNIP3 HIF1A
8 tricarboxylic acid cycle GO:0006099 9.46 FH SDHB
9 positive regulation of macroautophagy GO:0016239 9.43 BNIP3 HIF1A
10 negative regulation of reactive oxygen species metabolic process GO:2000378 9.4 BNIP3 HIF1A
11 regulation of aerobic respiration GO:1903715 9.26 BNIP3 HIF1A
12 positive regulation of autophagy of mitochondrion GO:1903599 9.16 BNIP3 HIF1A
13 lactate metabolic process GO:0006089 8.96 HIF1A LDHA
14 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 8.62 HIF1A NFE2L2

Sources for Hereditary Leiomyomatosis and Renal Cell Cancer

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17 ExPASy
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