HLRCC
MCID: HRD029
MIFTS: 57

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Categories: Cancer diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin 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 renal cell carcinoma, papillary, 1 and leiomyomatosis, 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 Bevacizumab and Metformin have been mentioned in the context of this disorder. Affiliated tissues include uterus, kidney and skin, and related phenotypes are cataract and pruritus

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 : 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.

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.

Wikipedia : 76 Reed´┐Ż??s syndrome (or familial leiomyomatosis cutis et uteri) is a rare inherited condition... more...

GeneReviews: NBK1252

Related Diseases for Hereditary Leiomyomatosis and Renal Cell Cancer

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 BNIP3 HIF1A LDHA NFE2L2 SDHB
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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 2 216974-75-3
2
Metformin Approved Phase 1, Phase 2 657-24-9 14219 4091
3
Acetylcholine Approved Phase 2 51-84-3 187
4 Protein Kinase Inhibitors Phase 2
5
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
6 Angiogenesis Modulating Agents Phase 2
7 Angiogenesis Inhibitors Phase 2
8 Hypoglycemic Agents Phase 1, Phase 2
9 Botulinum Toxins, Type A Phase 2
10 Neurotransmitter Agents Phase 2
11 Cholinergic Agents Phase 2
12 abobotulinumtoxinA Phase 2
13 Neuromuscular Agents Phase 2
14 Peripheral Nervous System Agents Phase 2
15 Acetylcholine Release Inhibitors Phase 2
16 onabotulinumtoxinA Phase 2
17 Botulinum Toxins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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
3 Randomized Pilot Study for the Treatment of Cutaneous Leiomyomas With Botulinum Toxin Completed NCT00971620 Phase 2
4 MyVHL: Patient Natural History Study Recruiting NCT03749980

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, Testes, Lymph Node

Publications for Hereditary Leiomyomatosis and Renal Cell Cancer

Articles related to Hereditary Leiomyomatosis and Renal Cell Cancer:

(show top 50) (show all 65)
# 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 without cutaneous manifestations in two Japanese siblings. ( 30058172 )
2018
7
Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation. ( 30171332 )
2018
8
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC): A Contemporary Review and Practical Discussion of the Differential Diagnosis for HLRCC-Associated Renal Cell Carcinoma. ( 30281371 )
2018
9
Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review. ( 28314682 )
2017
10
Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome). ( 28884140 )
2017
11
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 28700432 )
2017
12
Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids. ( 29593997 )
2017
13
Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach. ( 28400389 )
2017
14
Hereditary leiomyomatosis and renal cell cancer syndrome: a family affair. ( 28122802 )
2017
15
Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma. ( 28195105 )
2017
16
Hereditary leiomyomatosis and renal cell cancer syndrome: A novel mutation in the FH gene. ( 28691741 )
2017
17
Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC. ( 28266706 )
2017
18
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
19
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
20
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
21
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum. ( 28400895 )
2016
22
First Presentation of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Pregnancy. ( 26902252 )
2016
23
Rare Leiomyoma of the Tunica Dartos: A Case Report with Clinical Relevance for Malignant Transformation and HLRCC. ( 27529047 )
2016
24
Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome). ( 26945337 )
2016
25
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer. ( 26493120 )
2015
26
Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia typeA 1 (HT1). ( 26551707 )
2015
27
Case 221: Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 26302393 )
2015
28
Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion? ( 26380143 )
2015
29
Hereditary leiomyomatosis and renal cell cancer syndrome. ( 26323704 )
2015
30
Genetic testing of leiomyoma tissue in women younger than 30 years old might provide an effective screening approach for the hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC). ( 25985877 )
2015
31
Piloleiomyomas in multiple cutaneous and uterine leiomyoma syndrome (hereditary leiomyomatosis and renal cell cancer or Reed syndrome). ( 26990333 )
2015
32
Concurrent renal-cell carcinoma and cutaneous leiomyomas: A case of HLRCC. ( 27408652 )
2015
33
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. ( 25012257 )
2014
34
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
35
Myopathy in hereditary leiomyomatosis and renal cell cancer in an extended family. ( 25354562 )
2014
36
Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC). ( 24526232 )
2014
37
Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer. ( 22982371 )
2013
38
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance. ( 22086304 )
2012
39
Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. ( 22127509 )
2012
40
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
41
Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. ( 22565324 )
2012
42
[Hereditary leiomyomatosis and renal cell cancer - HLRCC/multiple cutaneous and uterine leimomyomatosis - MCUL]. ( 22920208 )
2012
43
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. ( 20618355 )
2011
44
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. ( 21404119 )
2011
45
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
46
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status. ( 21630274 )
2011
47
A case report of hereditary leiomyomatosis and renal cell cancer. ( 20510956 )
2010
48
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
49
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer. ( 19276158 )
2009
50
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? ( 19183174 )
2009

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 202)
# 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.521C> G (p.Pro174Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199822819 GRCh37 Chromosome 1, 241675301: 241675301
14 FH NM_000143.3(FH): c.521C> G (p.Pro174Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199822819 GRCh38 Chromosome 1, 241512001: 241512001
15 FH NM_000143.3(FH): c.1421C> G (p.Thr474Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs369802820 GRCh37 Chromosome 1, 241661240: 241661240
16 FH NM_000143.3(FH): c.1421C> G (p.Thr474Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs369802820 GRCh38 Chromosome 1, 241497940: 241497940
17 FH NM_000143.3(FH): c.1020T> A (p.Asn340Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs398123159 GRCh37 Chromosome 1, 241667430: 241667430
18 FH NM_000143.3(FH): c.1020T> A (p.Asn340Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs398123159 GRCh38 Chromosome 1, 241504130: 241504130
19 FH NM_000143.3(FH): c.1126C> T (p.Gln376Ter) single nucleotide variant Pathogenic rs398123160 GRCh37 Chromosome 1, 241665853: 241665853
20 FH NM_000143.3(FH): c.1126C> T (p.Gln376Ter) single nucleotide variant Pathogenic rs398123160 GRCh38 Chromosome 1, 241502553: 241502553
21 FH NM_000143.3(FH): c.1255T> C (p.Ser419Pro) single nucleotide variant Pathogenic/Likely pathogenic rs200004220 GRCh37 Chromosome 1, 241663872: 241663872
22 FH NM_000143.3(FH): c.1255T> C (p.Ser419Pro) single nucleotide variant Pathogenic/Likely pathogenic rs200004220 GRCh38 Chromosome 1, 241500572: 241500572
23 FH NM_000143.3(FH): c.1293delA (p.Glu432Lysfs) deletion Pathogenic rs398123163 GRCh37 Chromosome 1, 241663834: 241663834
24 FH NM_000143.3(FH): c.1293delA (p.Glu432Lysfs) deletion Pathogenic rs398123163 GRCh38 Chromosome 1, 241500534: 241500534
25 FH NM_000143.3(FH): c.320A> C (p.Asn107Thr) single nucleotide variant Pathogenic rs121913121 GRCh37 Chromosome 1, 241676961: 241676961
26 FH NM_000143.3(FH): c.320A> C (p.Asn107Thr) single nucleotide variant Pathogenic rs121913121 GRCh38 Chromosome 1, 241513661: 241513661
27 FH NM_000143.3(FH): c.560C> G (p.Ser187Ter) single nucleotide variant Pathogenic rs398123166 GRCh37 Chromosome 1, 241672081: 241672081
28 FH NM_000143.3(FH): c.560C> G (p.Ser187Ter) single nucleotide variant Pathogenic rs398123166 GRCh38 Chromosome 1, 241508781: 241508781
29 FH NM_000143.3(FH): c.952C> T (p.His318Tyr) single nucleotide variant Pathogenic rs398123168 GRCh37 Chromosome 1, 241667498: 241667498
30 FH NM_000143.3(FH): c.952C> T (p.His318Tyr) single nucleotide variant Pathogenic rs398123168 GRCh38 Chromosome 1, 241504198: 241504198
31 FH NM_000143.3(FH): c.53C> T (p.Pro18Leu) single nucleotide variant Benign/Likely benign rs201887750 GRCh37 Chromosome 1, 241682970: 241682970
32 FH NM_000143.3(FH): c.53C> T (p.Pro18Leu) single nucleotide variant Benign/Likely benign rs201887750 GRCh38 Chromosome 1, 241519670: 241519670
33 FH NM_000143.3(FH): c.77C> T (p.Pro26Leu) single nucleotide variant Benign/Likely benign rs187226800 GRCh37 Chromosome 1, 241682946: 241682946
34 FH NM_000143.3(FH): c.77C> T (p.Pro26Leu) single nucleotide variant Benign/Likely benign rs187226800 GRCh38 Chromosome 1, 241519646: 241519646
35 FH NM_000143.3(FH): c.927G> A (p.Pro309=) single nucleotide variant Benign rs61737760 GRCh37 Chromosome 1, 241667523: 241667523
36 FH NM_000143.3(FH): c.927G> A (p.Pro309=) single nucleotide variant Benign rs61737760 GRCh38 Chromosome 1, 241504223: 241504223
37 FH NM_000143.3(FH): c.1236+14C> T single nucleotide variant Benign/Likely benign rs149241949 GRCh37 Chromosome 1, 241665729: 241665729
38 FH NM_000143.3(FH): c.1236+14C> T single nucleotide variant Benign/Likely benign rs149241949 GRCh38 Chromosome 1, 241502429: 241502429
39 FH NM_000143.3(FH): c.1302C> T (p.Cys434=) single nucleotide variant Benign rs2070080 GRCh37 Chromosome 1, 241663825: 241663825
40 FH NM_000143.3(FH): c.1302C> T (p.Cys434=) single nucleotide variant Benign rs2070080 GRCh38 Chromosome 1, 241500525: 241500525
41 FH NM_000143.3(FH): c.309C> T (p.Ala103=) single nucleotide variant Benign rs10926501 GRCh37 Chromosome 1, 241676972: 241676972
42 FH NM_000143.3(FH): c.309C> T (p.Ala103=) single nucleotide variant Benign rs10926501 GRCh38 Chromosome 1, 241513672: 241513672
43 FH NM_000143.3(FH): c.697C> T (p.Arg233Cys) single nucleotide variant Pathogenic rs587781682 GRCh37 Chromosome 1, 241671944: 241671944
44 FH NM_000143.3(FH): c.697C> T (p.Arg233Cys) single nucleotide variant Pathogenic rs587781682 GRCh38 Chromosome 1, 241508644: 241508644
45 FH NM_000143.3(FH): c.105G> A (p.Ser35=) single nucleotide variant Benign/Likely benign rs181655698 GRCh37 Chromosome 1, 241682918: 241682918
46 FH NM_000143.3(FH): c.105G> A (p.Ser35=) single nucleotide variant Benign/Likely benign rs181655698 GRCh38 Chromosome 1, 241519618: 241519618
47 FH NM_000143.3(FH): c.1067T> A (p.Leu356Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503927 GRCh37 Chromosome 1, 241667383: 241667383
48 FH NM_000143.3(FH): c.1067T> A (p.Leu356Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503927 GRCh38 Chromosome 1, 241504083: 241504083
49 FH NM_000143.3(FH): c.1154C> A (p.Ala385Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs727503926 GRCh37 Chromosome 1, 241665825: 241665825
50 FH NM_000143.3(FH): c.1154C> A (p.Ala385Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs727503926 GRCh38 Chromosome 1, 241502525: 241502525

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 COSM989 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma c.1130G>A p.R377H 22:23834152-23834152 14
42 COSM6964939 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma c.987-2A>T p.? 22:23833570-23833570 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 cerebral cortex development GO:0021987 9.54 BNIP3 HIF1A
2 response to hypoxia GO:0001666 9.54 BNIP3 HIF1A LDHA
3 negative regulation of cell death GO:0060548 9.52 BNIP3 NFE2L2
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 positive regulation of autophagy of mitochondrion GO:1903599 9.26 BNIP3 HIF1A
12 regulation of aerobic respiration GO:1903715 9.16 BNIP3 HIF1A
13 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 8.96 HIF1A NFE2L2
14 lactate metabolic process GO:0006089 8.62 HIF1A LDHA

Sources for Hereditary Leiomyomatosis and Renal Cell Cancer

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10 dbSNP
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17 ExPASy
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