HLRCC
MCID: HRD029
MIFTS: 61

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Categories: Blood diseases, 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 56 24 52 25 58 73 71
Hlrcc 56 24 52 25 58 73 54
Multiple Cutaneous and Uterine Leiomyomata 52 25 73 36
Leiomyomatosis and Renal Cell Cancer 56 25 13 39
Lrcc 56 52 25 73
Mcl 56 52 25 73
Mcul 52 25 58
Multiple Cutaneous and Uterine Leiomyomas 58 6
Multiple Cutaneous Leiomyomas 29 6
Leiomyomatosis Familial 52 29
Reed's Syndrome 52 25
Mcul1 56 73
Multiple Cutaneous and Uterine Leiomyomata 1, with or Without Renal Cell Carcinoma; Mcul1 56
Multiple Cutaneous and Uterine Leiomyomata 1, with or Without Renal Cell Carcinoma 56
Multiple Cutaneous and Uterine Leiomyomata 1 with or Without Renal Cell Carcinoma 73
Leiomyomatosis and Renal Cell Cancer, Hereditary; Lrcc 56
Hereditary Leiomyomatosis and Renal Cell Carcinoma 25
Leiomyomatosis and Renal Cell Cancer, Hereditary 56
Leiomyomatosis and Renal Cell Cancer Hereditary 73
Hereditary Leiomyomatosis with Renal Carcinoma 58
Familial Leiomyomatosis and Renal Cell Cancer 58
Familial Leiomyomatosis with Renal Carcinoma 58
Hereditary Multiple Cutaneous Leiomyomas 58
Familial Leiomyomatosis Cutis Et Uteri 58
Familial Multiple Cutaneous Leiomyomas 58
Leiomyoma, Multiple Cutaneous; Mcl 56
Multiple Cutaneous Leiomyomata 52
Leiomyoma, Multiple Cutaneous 56
Multiple Cutaneous Leiomyoma 25
Leiomyoma Multiple Cutaneous 73
Hereditary Leiomyomatosis 58
Familial Leiomyomatosis 52
Reed Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hereditary leiomyomatosis and renal cell cancer
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Elderly;

OMIM:

56
Miscellaneous:
incomplete penetrance
highly variable phenotype
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

Inheritance:
autosomal dominant


HPO:

31
hereditary leiomyomatosis and renal cell cancer:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


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:

Orphanet: 58  
Rare renal diseases
Rare skin diseases


External Ids:

OMIM 56 150800
KEGG 36 H00804
MeSH 43 D018231
ICD10 via Orphanet 33 C64
UMLS via Orphanet 72 C1708350
Orphanet 58 ORPHA523
UMLS 71 C1708350

Summaries for Hereditary Leiomyomatosis and Renal Cell Cancer

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. In this disorder, growths on the skin (cutaneous leiomyomas) typically develop in the third decade of life. Most of these growths arise from the tiny muscles around the hair follicles that cause "goosebumps". They appear as bumps or nodules on the trunk, arms, legs, and occasionally on the face. Cutaneous leiomyomas may be the same color as the surrounding skin, or they may be darker. Some affected individuals have no cutaneous leiomyomas or only a few, but the growths tend to increase in size and number over time. Cutaneous leiomyomas are often more sensitive than the surrounding skin to cold or light touch, and may be painful. Most women with HLRCC also develop uterine leiomyomas (fibroids). While uterine fibroids are very common in the general population, women with HLRCC tend to have numerous large fibroids that appear earlier than in the general population. Approximately 10 percent to 16 percent of people with HLRCC develop a type of kidney cancer called renal cell cancer. The signs and symptoms of renal cell cancer may include lower back pain, blood in the urine, or a mass in the kidney that can be felt upon physical examination. Some people with renal cell cancer have no symptoms until the disease is advanced. People with HLRCC are commonly diagnosed with kidney cancer in their forties. This disorder, especially if it appears in individuals or families without renal cell cancer, is also sometimes called multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL).

MalaCards based summary : Hereditary Leiomyomatosis and Renal Cell Cancer, also known as hlrcc, is related to renal cell carcinoma, papillary, 1 and fumarate hydratase deficiency, 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 skin, kidney and uterus, and related phenotypes are abnormality of the musculature and multiple cutaneous leiomyomas

NIH Rare Diseases : 52 Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. They tend to increase in size and number over time. About 10% to 16% of people with HLRCC develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. Some people have no symptoms until the cancer is advanced. HLRCC is caused by mutations in the FH gene and is inherited in an autosomal dominant manner.

OMIM : 56 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)

KEGG : 36 Multiple cutaneous and uterine leiomyomatosis (MCUL) is a rare autosomal dominant disorder that affects both sexes. It is characterized by benign skin tumors arising from the arrector pili muscle, and from uterine fibroids in female patients. Some patients with MCUL develop renal cancer and this condition is called hereditary leiomyomatosis and renal cell cancer.

UniProtKB/Swiss-Prot : 73 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 : 74 Reed's syndrome is a rare inherited condition characterised by multiple cutaneous leiomyomas and, in... 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 top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, papillary, 1 31.4 SDHB NFE2L2 HIF1A FH
2 fumarate hydratase deficiency 30.4 HIF1A FH
3 kidney cancer 29.7 SDHB NFE2L2 HIF1A FH
4 renal cell carcinoma, nonpapillary 29.5 SDHB LDHA HIF1A FH
5 leiomyomatosis 29.4 SDHB NFE2L2 LDHA FH BNIP3
6 paraganglioma 29.2 SDHB HIF1A FH
7 pheochromocytoma 29.1 SDHB HIF1A FH
8 von hippel-lindau syndrome 29.0 SDHB HIF1A
9 night blindness-skeletal anomalies-dysmorphism syndrome 11.5
10 intravenous leiomyomatosis 11.0
11 leiomyoma 10.6
12 leiomyoma, uterine 10.5
13 chromophil renal cell carcinoma 10.5
14 myofibroma 10.5
15 leiomyosarcoma 10.4
16 hypercholesterolemia, familial, 1 10.3
17 tumor predisposition syndrome 10.2
18 papillary carcinoma 10.2
19 adrenocortical carcinoma, hereditary 10.1
20 adrenal cortical carcinoma 10.1
21 male infertility 10.1
22 lynch syndrome 10.1
23 adrenal cortical adenocarcinoma 10.1
24 basal cell carcinoma 10.1
25 myopathy 10.1
26 collecting duct carcinoma 10.1
27 leiomyoma cutis 10.1
28 hemangioblastoma 10.1
29 adenoma 10.1
30 tyrosinemia 10.1
31 encephalitis 10.1
32 48,xyyy 10.1
33 erythrokeratoderma ''en cocardes'' 10.1
34 soft tissue sarcoma 10.1
35 cystic kidney disease 10.1
36 skin disease 10.1
37 rare genetic skin disease 10.1
38 autism 10.1
39 cryptorchidism, unilateral or bilateral 10.1
40 fumarase deficiency 10.1
41 asperger syndrome 10.1
42 autism spectrum disorder 10.1
43 dartoic leiomyoma 10.1
44 gastrointestinal stromal tumor 10.0
45 chromosomal triplication 10.0
46 chromosome 18p duplication 10.0
47 neurofibromatosis, type iv, of riccardi 9.9
48 conn's syndrome 9.9
49 diabetic macular edema 9.9 HIF1A FH
50 blue rubber bleb nevus 9.9

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:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003011
2 multiple cutaneous leiomyomas 58 31 hallmark (90%) Very frequent (99-80%) HP:0007437
3 cutaneous leiomyoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0007620
4 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
5 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
6 barrett esophagus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100580
7 uterine leiomyoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000131
8 vaginal neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100650
9 uterine leiomyosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002891
10 papillary renal cell carcinoma type 2 58 31 occasional (7.5%) Occasional (29-5%) HP:0006732
11 cutaneous leiomyosarcoma 31 occasional (7.5%) HP:0006755
12 renal cell carcinoma 31 HP:0005584
13 esophageal neoplasm 58 Occasional (29-5%)
14 decreased fumarate hydratase activity 31 HP:0003536

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Female:
uterine leiomyosarcoma
uterine leiomyomata
uterine fibroids

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

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

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:

45
# 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 neoplasm MP:0002006 9.26 HIF1A LDHA NFE2L2 SDHB
4 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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational 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 4091 14219
4
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
5 Guadecitabine Investigational Phase 2 929901-49-5
6 abobotulinumtoxinA Phase 2
7 Acetylcholine Release Inhibitors Phase 2
8 Neurotransmitter Agents Phase 2
9 Neuromuscular Agents Phase 2
10 Cholinergic Agents Phase 2
11 Botulinum Toxins, Type A Phase 2
12 Botulinum Toxins Phase 2
13 Angiogenesis Inhibitors Phase 2
14 Protein Kinase Inhibitors Phase 2
15 Antineoplastic Agents, Immunological Phase 2
16
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
17 Hypoglycemic Agents Phase 1, Phase 2
18 Antimetabolites 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 Phase I/II Trial of Vandetanib in Combination With Metformin in Subjects With HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell Carcinoma Recruiting NCT02495103 Phase 1, Phase 2 Vandetanib;Metformin;Vandetanib/Metformin
4 A Phase II Trial of the DNA Methyl Transferase Inhibitor, SGI-110 (Guadecitabine), In Children And Adults With Wild Type GIST, Pheochromocytoma And Paraganglioma Associated With Succinate Dehydrogenase Deficiency And HLRCC-Associated Kidney Cancer Recruiting NCT03165721 Phase 2 SGI-110 (guadecitabine)
5 Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene and Characterization of the Predisposition to Renal Cancer Recruiting NCT00050752
6 Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders Recruiting NCT00001238
7 MyVHL: Patient Natural History Study Recruiting NCT03749980
8 Establishment of a Fibroid Tissue Bank Terminated NCT00710346

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:

40
Skin, Kidney, Uterus, Smooth Muscle, Testes, Lymph Node, Breast

Publications for Hereditary Leiomyomatosis and Renal Cell Cancer

Articles related to Hereditary Leiomyomatosis and Renal Cell Cancer:

(show top 50) (show all 263)
# Title Authors PMID Year
1
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. 61 54 6 56 24
16757530 2006
2
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. 61 54 24 56 6
15937070 2006
3
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 56 6 24
11865300 2002
4
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. 56 61 24 54
16597677 2006
5
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. 61 24 6 54
12772087 2003
6
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. 61 24 56
21398687 2011
7
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. 61 56 24
20618355 2011
8
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). 24 6 61
17908262 2008
9
Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. 61 6 24
15663510 2005
10
Inherited susceptibility to uterine leiomyomas and renal cell cancer. 61 24 56
11248088 2001
11
Cutaneous leiomyomata with uterine leiomyomata. 24 56
4127477 1973
12
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. 56 61
21404119 2011
13
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. 24 54 61
18503824 2008
14
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients. 24 54 61
16477632 2006
15
Hereditary Leiomyomatosis and Renal Cell Cancer 6 61
20301430 2006
16
Increased risk of cancer in patients with fumarate hydratase germline mutation. 24 61 54
16155190 2006
17
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation. 24 54 61
15741255 2005
18
Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. 24 61 54
15761418 2005
19
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. 61 54 24
14695314 2004
20
Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. 56 61
11549574 2001
21
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
22
Canadian guideline on genetic screening for hereditary renal cell cancers. 6
24319509 2013
23
Molecular pathways: Fumarate hydratase-deficient kidney cancer--targeting the Warburg effect in cancer. 24 61
23633457 2013
24
Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism. 24 61
20660115 2010
25
Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. 24 61
15724016 2005
26
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. 24 61
12761039 2003
27
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. 61 24
12183404 2002
28
Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. 56
11283798 2001
29
A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity. 56
9420534 1997
30
9p Trisomy/18p distal monosomy and multiple cutaneous leiomyomata. Another specific chromosomal site (18pter) in dominantly inherited multiple tumors? 56
4018793 1985
31
Segmentary and disseminated lesions in multiple hereditary cutaneous leiomyoma. 56
5115893 1971
32
[4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity]. 56
5313386 1970
33
[Multiple hereditary cutaneous leiomyoma. Study of a systemic case in a male subject related to a family with cutaneous leiomyomatosis and uterine fibromyomatosis]. 56
5855898 1965
34
MULTIPLE CUTANEOUS LEIOMYOMA IN IDENTICAL TWINS. 56
14149729 1964
35
Hereditary multiple leiomyoma of the skin. 56
13520698 1958
36
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome. 54 61
20091131 2010
37
Male infertility associated with hereditary leiomyomatosis and renal cell carcinoma. 61 54
20056206 2010
38
Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response. 54 61
20231875 2010
39
UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer. 61 54
19963135 2010
40
Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species. 61 54
19470762 2009
41
Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer. 61 54
19373782 2009
42
Hereditary kidney cancer: unique opportunity for disease-based therapy. 61 54
19402075 2009
43
The clinical implications of the genetics of renal cell carcinoma. 54 61
19285230 2009
44
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. 54 61
19075141 2008
45
Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer. 61 54
18986479 2008
46
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. 61 54
18366737 2008
47
A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein. 61 54
17960613 2008
48
Efficacy of sunitinib and sorafenib in metastatic papillary and chromophobe renal cell carcinoma. 24
18165647 2008
49
The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. 54 61
17895761 2007
50
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer. 61 54
17383644 2007

Variations for Hereditary Leiomyomatosis and Renal Cell Cancer

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

6 (show top 50) (show all 103) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FH NM_000143.3(FH):c.301C>T (p.Arg101Ter)SNV Pathogenic 16232 rs121913120 1:241676980-241676980 1:241513680-241513680
2 FH NM_000143.3(FH):c.669_670AG[1] (p.Glu224fs)short repeat Pathogenic 16234 rs780001199 1:241671969-241671970 1:241508669-241508670
3 FH NM_000143.3(FH):c.1027C>T (p.Arg343Ter)SNV Pathogenic 16235 rs121913122 1:241667423-241667423 1:241504123-241504123
4 FH NM_000143.3(FH):c.698G>A (p.Arg233His)SNV Pathogenic 16236 rs121913123 1:241671943-241671943 1:241508643-241508643
5 FH NM_000143.3(FH):c.1126C>T (p.Gln376Ter)SNV Pathogenic 92448 rs398123160 1:241665853-241665853 1:241502553-241502553
6 FH NM_000143.3(FH):c.1293del (p.Glu432fs)deletion Pathogenic 92452 rs398123163 1:241663834-241663834 1:241500534-241500534
7 FH NM_000143.3(FH):c.560C>G (p.Ser187Ter)SNV Pathogenic 92456 rs398123166 1:241672081-241672081 1:241508781-241508781
8 FH NM_000143.3(FH):c.912_918del (p.Phe305fs)deletion Pathogenic 198391 rs794727836 1:241667532-241667538 1:241504232-241504238
9 FH NM_000143.3(FH):c.1210G>T (p.Glu404Ter)SNV Pathogenic 208375 rs797044974 1:241665769-241665769 1:241502469-241502469
10 FH NM_000143.3(FH):c.905-1G>ASNV Pathogenic 208374 rs797044973 1:241667546-241667546 1:241504246-241504246
11 FH NM_000143.3(FH):c.1189G>A (p.Gly397Arg)SNV Pathogenic 214422 rs863224007 1:241665790-241665790 1:241502490-241502490
12 FH NM_000143.3(FH):c.1083_1086del (p.Glu362fs)deletion Pathogenic 214399 rs756469140 1:241667364-241667367 1:241504064-241504067
13 FH NM_000143.3(FH):c.390_394TAAAT[1] (p.Lys131_Leu132insTer)short repeat Pathogenic 214408 rs863223995 1:241675423-241675427 1:241512123-241512127
14 FH NM_000143.3(FH):c.139C>T (p.Gln47Ter)SNV Pathogenic 214389 rs863223980 1:241680610-241680610 1:241517310-241517310
15 FH NM_000143.3(FH):c.133-1G>ASNV Pathogenic 214426 rs863224011 1:241680617-241680617 1:241517317-241517317
16 FH NM_000143.3(FH):c.267+1G>CSNV Pathogenic 237112 rs878853691 1:241680481-241680481 1:241517181-241517181
17 FH NM_000143.3(FH):c.1298_1340dup (p.Met449fs)duplication Pathogenic 393581 rs1553340681 1:241663787-241663829 1:241500487-241500529
18 FH NM_000143.3(FH):c.1209del (p.Phe403fs)deletion Pathogenic 393580 rs1060499644 1:241665770-241665770 1:241502470-241502470
19 FH NM_000143.3(FH):c.1138dup (p.Met380fs)duplication Pathogenic 393579 rs781466938 1:241665841-241665841 1:241502541-241502541
20 FH NM_000143.3(FH):c.1063G>T (p.Glu355Ter)SNV Pathogenic 393577 rs1060499642 1:241667387-241667387 1:241504087-241504087
21 FH NM_000143.3(FH):c.1041del (p.Gly348fs)deletion Pathogenic 393576 rs1060499641 1:241667409-241667409 1:241504109-241504109
22 FH NM_000143.3(FH):c.808del (p.Tyr270fs)deletion Pathogenic 393572 rs1060499637 1:241669399-241669399 1:241506099-241506099
23 FH NM_000143.3(FH):c.722_738+3deldeletion Pathogenic 393570 rs1064792900 1:241671900-241671919 1:241508600-241508619
24 FH NM_000143.3(FH):c.556-2A>TSNV Pathogenic 393566 rs750273092 1:241672087-241672087 1:241508787-241508787
25 FH NM_000143.3(FH):c.553_554insTG (p.Gln185fs)insertion Pathogenic 393565 rs768182640 1:241675268-241675269 1:241511968-241511969
26 FH NM_000143.3(FH):c.524del (p.Val175fs)deletion Pathogenic 393564 rs1060499634 1:241675298-241675298 1:241511998-241511998
27 FH NM_000143.3(FH):c.439dup (p.Thr147fs)duplication Pathogenic 393563 rs1060499633 1:241675383-241675383 1:241512083-241512083
28 FH NM_000143.3(FH):c.267+1_267+10deldeletion Pathogenic 393559 rs1060499629 1:241680472-241680481 1:241517172-241517181
29 FH NM_000143.3(FH):c.239dup (p.Ile81fs)duplication Pathogenic 393558 rs1553341942 1:241680510-241680510 1:241517210-241517210
30 FH NM_000143.3(FH):c.157G>T (p.Glu53Ter)SNV Pathogenic 393557 rs863224013 1:241680592-241680592 1:241517292-241517292
31 FH NM_000143.3(FH):c.395del (p.Lys131_Leu132insTer)deletion Pathogenic 393561 rs1060499631 1:241675427-241675427 1:241512127-241512127
32 subset of 14 genes: CHRM3 deletion Pathogenic 689438 1:237244834-242310908
33 FH NM_000143.3(FH):c.322C>T (p.Gln108Ter)SNV Pathogenic/Likely pathogenic 393560 rs1060499630 1:241676959-241676959 1:241513659-241513659
34 FH NM_000143.3(FH):c.1500G>A (p.Trp500Ter)SNV Pathogenic/Likely pathogenic 265151 rs886039368 1:241661161-241661161 1:241497861-241497861
35 FH NM_000143.3(FH):c.1093A>G (p.Ser365Gly)SNV Pathogenic/Likely pathogenic 214374 rs863223966 1:241667357-241667357 1:241504057-241504057
36 FH NM_000143.3(FH):c.1020T>A (p.Asn340Lys)SNV Pathogenic/Likely pathogenic 92447 rs398123159 1:241667430-241667430 1:241504130-241504130
37 FH NM_000143.3(FH):c.1067T>A (p.Leu356Ter)SNV Pathogenic/Likely pathogenic 167066 rs727503927 1:241667383-241667383 1:241504083-241504083
38 FH NM_000143.3(FH):c.952C>T (p.His318Tyr)SNV Pathogenic/Likely pathogenic 92458 rs398123168 1:241667498-241667498 1:241504198-241504198
39 FH NM_000143.3(FH):c.320A>C (p.Asn107Thr)SNV Pathogenic/Likely pathogenic 92455 rs121913121 1:241676961-241676961 1:241513661-241513661
40 FH NM_000143.3(FH):c.1255T>C (p.Ser419Pro)SNV Pathogenic/Likely pathogenic 92451 rs200004220 1:241663872-241663872 1:241500572-241500572
41 FH NM_000143.3(FH):c.698G>T (p.Arg233Leu)SNV Likely pathogenic 16237 rs121913123 1:241671943-241671943 1:241508643-241508643
42 FH NM_000143.3(FH):c.302G>C (p.Arg101Pro)SNV Likely pathogenic 16238 rs75086406 1:241676979-241676979 1:241513679-241513679
43 FH NM_000143.3(FH):c.1394A>G (p.Tyr465Cys)SNV Likely pathogenic 214425 rs863224010 1:241661267-241661267 1:241497967-241497967
44 FH NM_000143.3(FH):c.554A>G (p.Gln185Arg)SNV Likely pathogenic 214433 rs779707997 1:241675268-241675268 1:241511968-241511968
45 FH NM_000143.3(FH):c.820G>C (p.Ala274Pro)SNV Likely pathogenic 393573 rs1060499638 1:241669387-241669387 1:241506087-241506087
46 FH NM_000143.3(FH):c.731T>G (p.Leu244Arg)SNV Likely pathogenic 393571 rs1060499636 1:241671910-241671910 1:241508610-241508610
47 FH NM_000143.3(FH):c.703C>G (p.His235Asp)SNV Likely pathogenic 393569 rs863223968 1:241671938-241671938 1:241508638-241508638
48 FH NM_000143.3(FH):c.578_583del (p.Thr193_Ala194del)deletion Likely pathogenic 393568 rs1060499635 1:241672058-241672063 1:241508758-241508763
49 FH NM_000143.3(FH):c.1469del (p.Gly490fs)deletion Likely pathogenic 393582 rs1060499645 1:241661192-241661192 1:241497892-241497892
50 FH NM_000143.3(FH):c.823G>C (p.Gly275Arg)SNV Conflicting interpretations of pathogenicity 393574 rs1060499639 1:241669384-241669384 1:241506084-241506084

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

73
# 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
9 FH p.Glu362Gln VAR_081606 rs121913119

Cosmic variations for Hereditary Leiomyomatosis and Renal Cell Cancer:

9 (show top 50) (show all 3401)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88173893 TP53 skin,leg,carcinoma,NS c.987C>A p.T329= 17:7673541-7673541 9
2 COSM87897745 TP53 skin,leg,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 9
3 COSM88272290 TP53 skin,trunk,carcinoma,NS c.480G>C p.M160I 17:7675132-7675132 9
4 COSM87910628 TP53 skin,face,carcinoma,NS c.772G>A p.E258K 17:7674191-7674191 9
5 COSM87898709 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 9
6 COSM87934170 TP53 skin,leg,carcinoma,NS c.740A>T p.N247I 17:7674223-7674223 9
7 COSM87929396 TP53 skin,face,carcinoma,NS c.530C>T p.P177L 17:7675082-7675082 9
8 COSM87910495 TP53 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 9
9 COSM87898714 TP53 skin,trunk,carcinoma,NS c.844C>T p.R282W 17:7673776-7673776 9
10 COSM87898991 TP53 skin,face,carcinoma,NS c.535C>T p.H179Y 17:7675077-7675077 9
11 COSM88408340 TP53 skin,arm,carcinoma,NS c.899C>G p.P300R 17:7673721-7673721 9
12 COSM87906968 TP53 skin,trunk,carcinoma,NS c.833C>T p.P278L 17:7673787-7673787 9
13 COSM87899497 TP53 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 9
14 COSM87906130 TP53 skin,face,carcinoma,NS c.854A>T p.E285V 17:7673766-7673766 9
15 COSM87944274 TP53 skin,face,carcinoma,NS c.419C>T p.T140I 17:7675193-7675193 9
16 COSM87957813 TP53 skin,trunk,carcinoma,NS c.737T>G p.M246R 17:7674226-7674226 9
17 COSM88003733 TP53 skin,arm,carcinoma,NS c.1096T>G p.S366A 17:7670613-7670613 9
18 COSM87903307 TP53 skin,face,carcinoma,NS c.841G>A p.D281N 17:7673779-7673779 9
19 COSM87900980 TP53 skin,face,carcinoma,NS c.839G>A p.R280K 17:7673781-7673781 9
20 COSM87898758 TP53 skin,leg,carcinoma,NS c.707A>G p.Y236C 17:7674256-7674256 9
21 COSM87961406 TP53 skin,face,carcinoma,NS c.532C>A p.H178N 17:7675080-7675080 9
22 COSM87905569 TP53 skin,face,carcinoma,NS c.740A>C p.N247T 17:7674223-7674223 9
23 COSM87908365 TP53 skin,face,carcinoma,NS c.454C>T p.P152S 17:7675158-7675158 9
24 COSM87918616 TP53 skin,face,carcinoma,NS c.993+1G>A p.? 17:7673534-7673534 9
25 COSM87898444 TP53 skin,leg,carcinoma,NS c.536A>G p.H179R 17:7675076-7675076 9
26 COSM87911563 TP53 skin,face,carcinoma,NS c.388C>T p.L130F 17:7675224-7675224 9
27 COSM87899145 TP53 skin,face,carcinoma,NS c.763A>T p.I255F 17:7674200-7674200 9
28 COSM87898836 TP53 skin,leg,carcinoma,NS c.560-1G>A p.? 17:7674972-7674972 9
29 COSM88110060 TP53 skin,leg,carcinoma,NS c.682G>A p.D228N 17:7674281-7674281 9
30 COSM87899377 TP53 skin,face,carcinoma,NS c.375+1G>A p.? 17:7675993-7675993 9
31 COSM87906851 TP53 skin,trunk,carcinoma,NS c.836G>A p.G279E 17:7673784-7673784 9
32 COSM87919309 TP53 skin,face,carcinoma,NS c.509C>T p.T170M 17:7675103-7675103 9
33 COSM87900604 TP53 skin,face,carcinoma,NS c.637C>T p.R213* 17:7674894-7674894 9
34 COSM87898424 TP53 skin,face,carcinoma,NS c.722C>T p.S241F 17:7674241-7674241 9
35 COSM87897850 TP53 skin,face,carcinoma,NS c.833C>G p.P278R 17:7673787-7673787 9
36 COSM87897627 TP53 skin,face,carcinoma,NS c.574C>T p.Q192* 17:7674957-7674957 9
37 COSM87917387 TP53 skin,face,carcinoma,NS c.746G>C p.R249T 17:7674217-7674217 9
38 COSM87970671 TP53 skin,face,carcinoma,NS c.766A>C p.T256P 17:7674197-7674197 9
39 COSM87961721 TP53 skin,leg,carcinoma,NS c.702C>A p.Y234* 17:7674261-7674261 9
40 COSM87899049 TP53 skin,face,carcinoma,NS c.96+1G>A p.? 17:7676381-7676381 9
41 COSM87900565 TP53 skin,face,carcinoma,NS c.1024C>T p.R342* 17:7670685-7670685 9
42 COSM87915380 TP53 skin,face,carcinoma,NS c.830G>T p.C277F 17:7673790-7673790 9
43 COSM87898343 TP53 skin,arm,carcinoma,NS c.829T>G p.C277G 17:7673791-7673791 9
44 COSM87906137 TP53 skin,face,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 9
45 COSM87906983 TP53 skin,face,carcinoma,NS c.592G>T p.E198* 17:7674939-7674939 9
46 COSM87899887 TP53 skin,face,carcinoma,NS c.856G>A p.E286K 17:7673764-7673764 9
47 COSM87933373 TP53 skin,arm,carcinoma,NS c.859G>A p.E287K 17:7673761-7673761 9
48 COSM87925339 TP53 skin,leg,carcinoma,NS c.863A>G p.N288S 17:7673757-7673757 9
49 COSM88020255 TP53 skin,trunk,carcinoma,NS c.622G>T p.D208Y 17:7674909-7674909 9
50 COSM87899906 TP53 skin,face,carcinoma,NS c.375+2T>C p.? 17:7675992-7675992 9

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:

36
# 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 HIF1A BNIP3
2 response to hypoxia GO:0001666 9.54 LDHA HIF1A BNIP3
3 negative regulation of cell death GO:0060548 9.52 NFE2L2 BNIP3
4 cellular response to hydrogen peroxide GO:0070301 9.51 NFE2L2 BNIP3
5 cellular response to hypoxia GO:0071456 9.5 NFE2L2 HIF1A BNIP3
6 positive regulation of autophagy GO:0010508 9.49 HIF1A BNIP3
7 positive regulation of blood vessel endothelial cell migration GO:0043536 9.48 NFE2L2 HIF1A
8 tricarboxylic acid cycle GO:0006099 9.46 SDHB FH
9 positive regulation of macroautophagy GO:0016239 9.43 HIF1A BNIP3
10 negative regulation of reactive oxygen species metabolic process GO:2000378 9.4 HIF1A BNIP3
11 regulation of aerobic respiration GO:1903715 9.26 HIF1A BNIP3
12 positive regulation of autophagy of mitochondrion GO:1903599 9.16 HIF1A BNIP3
13 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 8.96 NFE2L2 HIF1A
14 lactate metabolic process GO:0006089 8.62 LDHA HIF1A

Sources for Hereditary Leiomyomatosis and Renal Cell Cancer

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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68 SNOMED-CT via HPO
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