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 58 25 54 26 60 76 74
Hlrcc 58 25 54 26 60 76 56
Multiple Cutaneous and Uterine Leiomyomata 54 26 76 38
Leiomyomatosis and Renal Cell Cancer 58 26 13 41
Lrcc 58 54 26 76
Mcl 58 54 26 76
Mcul 54 26 60
Multiple Cutaneous and Uterine Leiomyomas 60 6
Multiple Cutaneous Leiomyomas 30 6
Leiomyomatosis Familial 54 30
Reed's Syndrome 54 26
Mcul1 58 76
Multiple Cutaneous and Uterine Leiomyomata 1, with or Without Renal Cell Carcinoma; Mcul1 58
Multiple Cutaneous and Uterine Leiomyomata 1, with or Without Renal Cell Carcinoma 58
Multiple Cutaneous and Uterine Leiomyomata 1 with or Without Renal Cell Carcinoma 76
Leiomyomatosis and Renal Cell Cancer, Hereditary; Lrcc 58
Hereditary Leiomyomatosis and Renal Cell Carcinoma 26
Leiomyomatosis and Renal Cell Cancer, Hereditary 58
Leiomyomatosis and Renal Cell Cancer Hereditary 76
Hereditary Leiomyomatosis with Renal Carcinoma 60
Familial Leiomyomatosis and Renal Cell Cancer 60
Familial Leiomyomatosis with Renal Carcinoma 60
Hereditary Multiple Cutaneous Leiomyomas 60
Familial Leiomyomatosis Cutis Et Uteri 60
Familial Multiple Cutaneous Leiomyomas 60
Leiomyoma, Multiple Cutaneous; Mcl 58
Multiple Cutaneous Leiomyomata 54
Leiomyoma, Multiple Cutaneous 58
Multiple Cutaneous Leiomyoma 26
Leiomyoma Multiple Cutaneous 76
Hereditary Leiomyomatosis 60
Familial Leiomyomatosis 54
Reed Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
hereditary leiomyomatosis and renal cell cancer
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Elderly;

OMIM:

58
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:

33
hereditary leiomyomatosis and renal cell cancer:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


GeneReviews:

25
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 : 58 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 abnormality of the musculature and multiple cutaneous leiomyomas

Genetics Home Reference : 26 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 : 54 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 : 76 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 : 77 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

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

Human phenotypes related to Hereditary Leiomyomatosis and Renal Cell Cancer:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the musculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003011
2 multiple cutaneous leiomyomas 60 33 hallmark (90%) Very frequent (99-80%) HP:0007437
3 cutaneous leiomyoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007620
4 pruritus 60 33 frequent (33%) Frequent (79-30%) HP:0000989
5 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
6 uterine leiomyoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000131
7 vaginal neoplasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0100650
8 uterine leiomyosarcoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002891
9 papillary renal cell carcinoma type 2 60 33 occasional (7.5%) Occasional (29-5%) HP:0006732
10 barrett esophagus 60 33 occasional (7.5%) Occasional (29-5%) HP:0100580
11 cutaneous leiomyosarcoma 33 occasional (7.5%) HP:0006755
12 renal cell carcinoma 33 HP:0005584
13 esophageal neoplasm 60 Occasional (29-5%)
14 decreased fumarate hydratase activity 33 HP:0003536

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Hereditary Leiomyomatosis and Renal Cell Cancer:


flank pain

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 BNIP3 HIF1A LDHA NFE2L2 SDHB
2 homeostasis/metabolism MP:0005376 9.63 BNIP3 FH HIF1A LDHA NFE2L2 SDHB
3 cardiovascular system MP:0005385 9.62 BNIP3 HIF1A LDHA NFE2L2
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, Investigational Phase 2 51-84-3 187
4 Angiogenesis Inhibitors Phase 2
5 Protein Kinase Inhibitors Phase 2
6
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
7 Angiogenesis Modulating Agents Phase 2
8 Antineoplastic Agents, Immunological Phase 2
9 Hypoglycemic Agents Phase 1, Phase 2
10 Botulinum Toxins, Type A Phase 2
11 Peripheral Nervous System Agents Phase 2
12 abobotulinumtoxinA Phase 2
13 Botulinum Toxins Phase 2
14 Neuromuscular Agents Phase 2
15 Cholinergic Agents Phase 2
16 Acetylcholine Release Inhibitors Phase 2
17 Neurotransmitter Agents 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 30 FH
2 Leiomyomatosis Familial 30

Anatomical Context for Hereditary Leiomyomatosis and Renal Cell Cancer

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

42
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
Hereditary leiomyomatosis and renal cell cancer syndrome in which skin biopsy enabled diagnosis. ( 30888070 )
2019
2
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
3
Nivolumab-Induced Encephalitis in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 29593922 )
2018
4
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes. ( 29619618 )
2018
5
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC). ( 29423582 )
2018
6
FH inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction. ( 29917289 )
2018
7
Hereditary leiomyomatosis and renal cell cancer without cutaneous manifestations in two Japanese siblings. ( 30058172 )
2018
8
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
9
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
10
Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review. ( 28314682 )
2017
11
Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome). ( 28884140 )
2017
12
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 28700432 )
2017
13
Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids. ( 29593997 )
2017
14
Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach. ( 28400389 )
2017
15
Hereditary leiomyomatosis and renal cell cancer syndrome: a family affair. ( 28122802 )
2017
16
Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma. ( 28195105 )
2017
17
Hereditary leiomyomatosis and renal cell cancer syndrome: A novel mutation in the FH gene. ( 28691741 )
2017
18
Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC. ( 28266706 )
2017
19
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
20
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
21
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
22
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum. ( 28400895 )
2016
23
First Presentation of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Pregnancy. ( 26902252 )
2016
24
Rare Leiomyoma of the Tunica Dartos: A Case Report with Clinical Relevance for Malignant Transformation and HLRCC. ( 27529047 )
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:

76
# 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 200)
# Gene Variation Type Significance SNP ID Assembly Location
1 FH NM_000143.3(FH): c.1067T> A (p.Leu356Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503927 GRCh37 Chromosome 1, 241667383: 241667383
2 FH NM_000143.3(FH): c.1067T> A (p.Leu356Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503927 GRCh38 Chromosome 1, 241504083: 241504083
3 FH NM_000143.3(FH): c.1154C> A (p.Ala385Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs727503926 GRCh37 Chromosome 1, 241665825: 241665825
4 FH NM_000143.3(FH): c.1154C> A (p.Ala385Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs727503926 GRCh38 Chromosome 1, 241502525: 241502525
5 FH NM_000143.3(FH): c.305C> T (p.Ala102Val) single nucleotide variant Uncertain significance rs61753295 GRCh37 Chromosome 1, 241676976: 241676976
6 FH NM_000143.3(FH): c.305C> T (p.Ala102Val) single nucleotide variant Uncertain significance rs61753295 GRCh38 Chromosome 1, 241513676: 241513676
7 FH NM_000143.3(FH): c.122C> T (p.Ala41Val) single nucleotide variant Likely benign rs201486221 GRCh37 Chromosome 1, 241682901: 241682901
8 FH NM_000143.3(FH): c.122C> T (p.Ala41Val) single nucleotide variant Likely benign rs201486221 GRCh38 Chromosome 1, 241519601: 241519601
9 FH NM_000143.3(FH): c.63C> T (p.Ala21=) single nucleotide variant Likely benign rs555404867 GRCh37 Chromosome 1, 241682960: 241682960
10 FH NM_000143.3(FH): c.63C> T (p.Ala21=) single nucleotide variant Likely benign rs555404867 GRCh38 Chromosome 1, 241519660: 241519660
11 FH NM_000143.3(FH): c.892G> C (p.Ala298Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs201395553 GRCh37 Chromosome 1, 241669315: 241669315
12 FH NM_000143.3(FH): c.892G> C (p.Ala298Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs201395553 GRCh38 Chromosome 1, 241506015: 241506015
13 FH NM_000143.3(FH): c.912_918delTTTTGTC (p.Phe305Leufs) deletion Pathogenic rs794727836 GRCh37 Chromosome 1, 241667532: 241667538
14 FH NM_000143.3(FH): c.912_918delTTTTGTC (p.Phe305Leufs) deletion Pathogenic rs794727836 GRCh38 Chromosome 1, 241504232: 241504238
15 FH NM_000143.3(FH): c.1210G> T (p.Glu404Ter) single nucleotide variant Pathogenic rs797044974 GRCh38 Chromosome 1, 241502469: 241502469
16 FH NM_000143.3(FH): c.1210G> T (p.Glu404Ter) single nucleotide variant Pathogenic rs797044974 GRCh37 Chromosome 1, 241665769: 241665769
17 FH NM_000143.3(FH): c.905-1G> A single nucleotide variant Pathogenic rs797044973 GRCh38 Chromosome 1, 241504246: 241504246
18 FH NM_000143.3(FH): c.905-1G> A single nucleotide variant Pathogenic rs797044973 GRCh37 Chromosome 1, 241667546: 241667546
19 FH NM_000143.3(FH): c.1424C> A (p.Ala475Glu) single nucleotide variant Uncertain significance rs863224012 GRCh38 Chromosome 1, 241497937: 241497937
20 FH NM_000143.3(FH): c.1424C> A (p.Ala475Glu) single nucleotide variant Uncertain significance rs863224012 GRCh37 Chromosome 1, 241661237: 241661237
21 FH NM_000143.3(FH): c.1394A> G (p.Tyr465Cys) single nucleotide variant Likely pathogenic rs863224010 GRCh37 Chromosome 1, 241661267: 241661267
22 FH NM_000143.3(FH): c.1394A> G (p.Tyr465Cys) single nucleotide variant Likely pathogenic rs863224010 GRCh38 Chromosome 1, 241497967: 241497967
23 FH NM_000143.3(FH): c.1189G> A (p.Gly397Arg) single nucleotide variant Pathogenic rs863224007 GRCh38 Chromosome 1, 241502490: 241502490
24 FH NM_000143.3(FH): c.1189G> A (p.Gly397Arg) single nucleotide variant Pathogenic rs863224007 GRCh37 Chromosome 1, 241665790: 241665790
25 FH NM_000143.3(FH): c.1093A> G (p.Ser365Gly) single nucleotide variant Pathogenic/Likely pathogenic rs863223966 GRCh38 Chromosome 1, 241504057: 241504057
26 FH NM_000143.3(FH): c.1093A> G (p.Ser365Gly) single nucleotide variant Pathogenic/Likely pathogenic rs863223966 GRCh37 Chromosome 1, 241667357: 241667357
27 FH NM_000143.3(FH): c.1083_1086delTGAA (p.Glu362Glnfs) deletion Pathogenic rs756469140 GRCh37 Chromosome 1, 241667364: 241667367
28 FH NM_000143.3(FH): c.1083_1086delTGAA (p.Glu362Glnfs) deletion Pathogenic rs756469140 GRCh38 Chromosome 1, 241504064: 241504067
29 FH NM_000143.3(FH): c.965T> G (p.Val322Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs863224003 GRCh37 Chromosome 1, 241667485: 241667485
30 FH NM_000143.3(FH): c.965T> G (p.Val322Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs863224003 GRCh38 Chromosome 1, 241504185: 241504185
31 FH NM_000143.3(FH): c.554A> G (p.Gln185Arg) single nucleotide variant Likely pathogenic rs779707997 GRCh37 Chromosome 1, 241675268: 241675268
32 FH NM_000143.3(FH): c.554A> G (p.Gln185Arg) single nucleotide variant Likely pathogenic rs779707997 GRCh38 Chromosome 1, 241511968: 241511968
33 FH NM_000143.3(FH): c.395_399delTAAAT (p.Leu132Terfs) deletion Pathogenic rs863223995 GRCh37 Chromosome 1, 241675423: 241675427
34 FH NM_000143.3(FH): c.395_399delTAAAT (p.Leu132Terfs) deletion Pathogenic rs863223995 GRCh38 Chromosome 1, 241512123: 241512127
35 FH NM_000143.3(FH): c.139C> T (p.Gln47Ter) single nucleotide variant Pathogenic rs863223980 GRCh37 Chromosome 1, 241680610: 241680610
36 FH NM_000143.3(FH): c.139C> T (p.Gln47Ter) single nucleotide variant Pathogenic rs863223980 GRCh38 Chromosome 1, 241517310: 241517310
37 FH NM_000143.3(FH): c.133-1G> A single nucleotide variant Pathogenic rs863224011 GRCh37 Chromosome 1, 241680617: 241680617
38 FH NM_000143.3(FH): c.133-1G> A single nucleotide variant Pathogenic rs863224011 GRCh38 Chromosome 1, 241517317: 241517317
39 FH NM_000143.3(FH): c.7C> G (p.Arg3Gly) single nucleotide variant Uncertain significance rs202166344 GRCh37 Chromosome 1, 241683016: 241683016
40 FH NM_000143.3(FH): c.7C> G (p.Arg3Gly) single nucleotide variant Uncertain significance rs202166344 GRCh38 Chromosome 1, 241519716: 241519716
41 FH NM_000143.3(FH): c.-11C> T single nucleotide variant Benign/Likely benign rs200942733 GRCh37 Chromosome 1, 241683033: 241683033
42 FH NM_000143.3(FH): c.-11C> T single nucleotide variant Benign/Likely benign rs200942733 GRCh38 Chromosome 1, 241519733: 241519733
43 FH NM_000143.3(FH): c.301C> T (p.Arg101Ter) single nucleotide variant Pathogenic rs121913120 GRCh37 Chromosome 1, 241676980: 241676980
44 FH NM_000143.3(FH): c.301C> T (p.Arg101Ter) single nucleotide variant Pathogenic rs121913120 GRCh38 Chromosome 1, 241513680: 241513680
45 FH NM_000143.3(FH): c.671_672delAG (p.Glu224Valfs) deletion Pathogenic rs780001199 GRCh37 Chromosome 1, 241671969: 241671970
46 FH NM_000143.3(FH): c.671_672delAG (p.Glu224Valfs) deletion Pathogenic rs780001199 GRCh38 Chromosome 1, 241508669: 241508670
47 FH NM_000143.3(FH): c.1027C> T (p.Arg343Ter) single nucleotide variant Pathogenic rs121913122 GRCh37 Chromosome 1, 241667423: 241667423
48 FH NM_000143.3(FH): c.1027C> T (p.Arg343Ter) single nucleotide variant Pathogenic rs121913122 GRCh38 Chromosome 1, 241504123: 241504123
49 FH NM_000143.3(FH): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic rs121913123 GRCh37 Chromosome 1, 241671943: 241671943
50 FH NM_000143.3(FH): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic rs121913123 GRCh38 Chromosome 1, 241508643: 241508643

Cosmic variations for Hereditary Leiomyomatosis and Renal Cell Cancer:

9 (show top 50) (show all 1014)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM5012058 ZNF462 kidney,NS,carcinoma,papillary renal cell carcinoma c.7085G>A p.R2362Q 9:107003322-107003322 0
2 COSM5010682 ZNF281 kidney,NS,carcinoma,papillary renal cell carcinoma c.2093C>T p.P698L 1:200407613-200407613 0
3 COSM5013462 ZNF225 kidney,NS,carcinoma,papillary renal cell carcinoma c.1187G>T p.G396V 19:44131801-44131801 0
4 COSM5011020 ZNF142 kidney,NS,carcinoma,papillary renal cell carcinoma c.3322G>T p.D1108Y 2:218642705-218642705 0
5 COSM6934293 ZFHX3 kidney,NS,carcinoma,papillary renal cell carcinoma c.2590T>C p.Y864H 16:72957556-72957556 0
6 COSM5014655 ZBTB2 kidney,NS,carcinoma,papillary renal cell carcinoma c.931G>A p.E311K 6:151366135-151366135 0
7 COSM5012645 XPO4 kidney,NS,carcinoma,papillary renal cell carcinoma c.1218C>A p.F406L 13:20809842-20809842 0
8 COSM6916551 XPO1 kidney,NS,carcinoma,papillary renal cell carcinoma c.259A>G p.I87V 2:61522653-61522653 0
9 COSM2888871 XKR7 kidney,NS,carcinoma,papillary renal cell carcinoma c.1409C>T p.T470M 20:31997126-31997126 0
10 COSM6941466 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 0
11 COSM5012777 WDR89 kidney,NS,carcinoma,papillary renal cell carcinoma c.260C>A p.S87* 14:63599683-63599683 0
12 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 3:10146526-10146526 0
13 COSM17807 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.264G>C p.W88C 3:10142111-10142111 0
14 COSM14380 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.548C>A p.S183* 3:10149871-10149871 0
15 COSM18350 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 0
16 COSM18346 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.341G>C p.G114A 3:10146514-10146514 0
17 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 3:10142139-10142139 0
18 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 0
19 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 0
20 COSM17917 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.523T>G p.Y175D 3:10149846-10149846 0
21 COSM25670 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.556G>T p.E186* 3:10149879-10149879 0
22 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 0
23 COSM14311 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.499C>T p.R167W 3:10149822-10149822 0
24 COSM17875 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 0
25 COSM17983 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 3:10149823-10149823 0
26 COSM18097 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.482G>A p.R161Q 3:10149805-10149805 0
27 COSM14425 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 3:10146512-10146512 0
28 COSM17808 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.443T>C p.F148S 3:10146616-10146616 0
29 COSM30286 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.473T>G p.L158R 3:10149796-10149796 0
30 COSM18070 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.263G>A p.W88* 3:10142110-10142110 0
31 COSM17872 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 0
32 COSM5015677 VAPB kidney,NS,carcinoma,papillary renal cell carcinoma c.149G>A p.R50H 20:58418301-58418301 0
33 COSM30316 USP24 kidney,NS,carcinoma,papillary renal cell carcinoma c.5867A>G p.Y1956C 1:55095342-55095342 0
34 COSM5011185 UROC1 kidney,NS,carcinoma,papillary renal cell carcinoma c.401A>G p.N134S 3:126508426-126508426 0
35 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 3:124737785-124737785 0
36 COSM30400 UBR4 kidney,NS,carcinoma,papillary renal cell carcinoma c.8588C>T p.A2863V 1:19140793-19140793 0
37 COSM5015711 TXNRD2 kidney,NS,carcinoma,papillary renal cell carcinoma c.1017G>T p.Q339H 22:19883394-19883394 0
38 COSM7349320 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1119+1G>T p.? 16:2060814-2060814 0
39 COSM7349613 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.976-1G>A p.? 16:2060669-2060669 0
40 COSM7349594 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 0
41 COSM7349602 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1636G>T p.E546* 16:2065555-2065555 0
42 COSM6980319 TSC2 kidney,NS,carcinoma,papillary renal cell carcinoma c.512G>C p.G171A 16:2055432-2055432 0
43 COSM7349619 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.390C>G p.Y130* 16:2054349-2054349 0
44 COSM7349321 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1600-1G>T p.? 16:2065518-2065518 0
45 COSM7349621 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.774+1G>A p.? 16:2056770-2056770 0
46 COSM7349639 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.731G>T p.C244F 16:2056726-2056726 0
47 COSM7349636 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1189C>T p.Q397* 16:2061940-2061940 0
48 COSM6957851 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.541G>A p.V181M 16:2055461-2055461 0
49 COSM7349616 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1717-1G>C p.? 16:2070455-2070455 0
50 COSM1272079 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3412C>T p.R1138* 16:2080179-2080179 0

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:

38
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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