HLRCC
MCID: HRD029
MIFTS: 56

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Categories: 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 20 43 58 72 29 6 70
Hlrcc 57 20 43 58 72 54
Multiple Cutaneous and Uterine Leiomyomata 20 43 72 36
Leiomyomatosis and Renal Cell Cancer 57 43 13 39
Lrcc 57 20 43 72
Mcl 57 20 43 72
Mcul 20 43 58
Familial Leiomyomatosis and Renal Cell Cancer 20 58
Familial Leiomyomatosis with Renal Carcinoma 20 58
Multiple Cutaneous and Uterine Leiomyomas 58 6
Familial Leiomyomatosis Cutis Et Uteri 20 58
Familial Multiple Cutaneous Leiomyomas 20 58
Reed's Syndrome 20 43
Mcul1 57 72
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 72
Leiomyomatosis and Renal Cell Cancer, Hereditary; Lrcc 57
Hereditary Leiomyomatosis and Renal Cell Carcinoma 43
Leiomyomatosis and Renal Cell Cancer, Hereditary 57
Leiomyomatosis and Renal Cell Cancer Hereditary 72
Hereditary Leiomyomatosis with Renal Carcinoma 58
Hereditary Multiple Cutaneous Leiomyomas 58
Leiomyoma, Multiple Cutaneous; Mcl 57
Multiple Cutaneous Leiomyomata 20
Leiomyoma, Multiple Cutaneous 57
Multiple Cutaneous Leiomyoma 43
Leiomyoma Multiple Cutaneous 72
Hereditary Leiomyomatosis 58
Reed Syndrome 58

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
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


Classifications:

Orphanet: 58  
Rare renal diseases
Rare skin diseases


External Ids:

OMIM® 57 150800
KEGG 36 H00804
MeSH 44 D018231
ICD10 via Orphanet 33 C64
UMLS via Orphanet 71 C1708350
Orphanet 58 ORPHA523
UMLS 70 C1708350

Summaries for Hereditary Leiomyomatosis and Renal Cell Cancer

MedlinePlus Genetics : 43 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 fumarate hydratase deficiency and renal cell carcinoma, papillary, 1, 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 Temozolomide have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and uterus, and related phenotypes are abnormality of the musculature and multiple cutaneous leiomyomas

GARD : 20 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® : 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) (Updated 20-May-2021)

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 : 72 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 : 73 Reed's syndrome is a rare inherited condition characterised by multiple cutaneous leiomyomas and, in... more...

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 80)
# Related Disease Score Top Affiliating Genes
1 fumarate hydratase deficiency 31.3 HIF1A FH
2 renal cell carcinoma, papillary, 1 31.2 SDHB NFE2L2 HIF1A FH
3 kidney cancer 30.7 SDHB HIF1A FH
4 leiomyomatosis 30.2 SDHB NFE2L2 LDHA FH BNIP3
5 renal cell carcinoma, nonpapillary 29.9 SDHB NFE2L2 LDHA HIF1A FH
6 paraganglioma 29.7 SDHB HIF1A FH
7 pheochromocytoma 29.7 SDHB HIF1A FH
8 night blindness-skeletal anomalies-dysmorphism syndrome 11.3
9 intravenous leiomyomatosis 11.1
10 fumarase deficiency 10.7
11 tumor predisposition syndrome 10.7
12 leiomyoma 10.7
13 cutaneous telangiectasia and cancer syndrome, familial 10.7
14 fh tumor predisposition syndrome 10.7
15 inherited cancer-predisposing syndrome 10.7
16 leiomyoma, uterine 10.7
17 chromophil renal cell carcinoma 10.6
18 myofibroma 10.5
19 leiomyosarcoma 10.5
20 leiomyoma cutis 10.4
21 papillary carcinoma 10.3
22 adrenocortical carcinoma, hereditary 10.2
23 male infertility 10.2
24 neurilemmoma 10.2
25 lynch syndrome 10.2
26 adrenal cortical adenocarcinoma 10.2
27 infertility 10.2
28 von hippel-lindau syndrome 10.2
29 adrenal cortical carcinoma 10.2
30 adrenal gland pheochromocytoma 10.2
31 melanoma 10.2
32 basal cell carcinoma 10.2
33 myopathy 10.2
34 collecting duct carcinoma 10.2
35 hemangioblastoma 10.2
36 adenoma 10.2
37 tyrosinemia 10.2
38 encephalitis 10.2
39 47,xyy 10.2
40 48,xyyy 10.2
41 erythrokeratoderma ''en cocardes'' 10.2
42 soft tissue sarcoma 10.2
43 hypoxia 10.2
44 gastrointestinal stromal tumor 10.1
45 birt-hogg-dube syndrome 10.1 PTCH1 FH
46 myoma 10.1
47 d-2-hydroxyglutaric aciduria 1 10.0 HIF1A FH
48 diabetic macular edema 10.0 HIF1A FH
49 chromosomal triplication 10.0
50 chromosome 18p duplication 10.0

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 vaginal neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100650
7 uterine leiomyoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000131
8 uterine leiomyosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002891
9 papillary renal cell carcinoma type 2 58 31 occasional (7.5%) Occasional (29-5%) HP:0006732
10 barrett esophagus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100580
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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Hereditary Leiomyomatosis and Renal Cell Cancer:


flank pain

GenomeRNAi Phenotypes related to Hereditary Leiomyomatosis and Renal Cell Cancer according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.92 FH
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.92 PTCH1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.92 FH
4 Increased shRNA abundance (Z-score > 2) GR00366-A-179 9.92 LDHA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.92 LDHA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.92 LDHA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.92 PTCH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.92 LDHA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.92 LDHA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.92 FH
11 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.92 LDHA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.92 LDHA
13 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.92 PTCH1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.92 LDHA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-38 9.92 LDHA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.92 PTCH1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.92 LDHA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.92 LDHA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.92 LDHA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.92 PTCH1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.8 BNIP3 HIF1A LDHA NFE2L2 PTCH1 SDHB
2 homeostasis/metabolism MP:0005376 9.8 BNIP3 FH HIF1A LDHA NFE2L2 PTCH1
3 neoplasm MP:0002006 9.55 HIF1A LDHA NFE2L2 PTCH1 SDHB
4 normal MP:0002873 9.35 HIF1A LDHA NFE2L2 PTCH1 SDHB
5 renal/urinary system MP:0005367 9.02 FH HIF1A NFE2L2 PTCH1 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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 2 216974-75-3
2
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
3
Metformin Approved Phase 1, Phase 2 657-24-9 14219 4091
4
Guadecitabine Investigational Phase 2 929901-49-5
5 Angiogenesis Inhibitors Phase 2
6 Antineoplastic Agents, Immunological Phase 2
7
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
8 Protein Kinase Inhibitors Phase 2
9 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
10 Alkylating Agents Phase 2
11 Hypoglycemic Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Completed NCT03165721 Phase 2 SGI-110 (guadecitabine)
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 Active, not recruiting NCT01130519 Phase 2 Bevacizumab;Erlotinib
3 A Phase 2 Study of Pamiparib (BGB-290) Plus Temozolomide for Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Not yet recruiting NCT04603365 Phase 2 Pamiparib;Temozolomide
4 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 Terminated NCT02495103 Phase 1, Phase 2 Vandetanib;Metformin;Vandetanib/Metformin
5 Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene and Characterization of the Predisposition to Renal Cancer Recruiting NCT00050752

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 Hereditary Leiomyomatosis and Renal Cell Cancer 29 FH

Anatomical Context for Hereditary Leiomyomatosis and Renal Cell Cancer

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

40
Kidney, Skin, Uterus, Smooth Muscle, Lymph Node, Testis, Brain

Publications for Hereditary Leiomyomatosis and Renal Cell Cancer

Articles related to Hereditary Leiomyomatosis and Renal Cell Cancer:

(show top 50) (show all 284)
# Title Authors PMID Year
1
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. 6 61 57 54
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 57 6
15937070 2006
3
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 57 6
11865300 2002
4
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. 57 54 61
16597677 2006
5
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. 6 54 61
12772087 2003
6
Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer. 57 61
32413184 2020
7
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. 61 57
21404119 2011
8
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. 57 61
21398687 2011
9
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. 61 57
20618355 2011
10
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). 61 6
17908262 2008
11
Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. 61 6
15663510 2005
12
Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. 57 61
11549574 2001
13
Inherited susceptibility to uterine leiomyomas and renal cell cancer. 61 57
11248088 2001
14
Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. 57
11283798 2001
15
A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity. 57
9420534 1997
16
9p Trisomy/18p distal monosomy and multiple cutaneous leiomyomata. Another specific chromosomal site (18pter) in dominantly inherited multiple tumors? 57
4018793 1985
17
Cutaneous leiomyomata with uterine leiomyomata. 57
4127477 1973
18
Segmentary and disseminated lesions in multiple hereditary cutaneous leiomyoma. 57
5115893 1971
19
[4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity]. 57
5313386 1970
20
[Multiple hereditary cutaneous leiomyoma. Study of a systemic case in a male subject related to a family with cutaneous leiomyomatosis and uterine fibromyomatosis]. 57
5855898 1965
21
MULTIPLE CUTANEOUS LEIOMYOMA IN IDENTICAL TWINS. 57
14149729 1964
22
Hereditary multiple leiomyoma of the skin. 57
13520698 1958
23
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome. 61 54
20091131 2010
24
Male infertility associated with hereditary leiomyomatosis and renal cell carcinoma. 54 61
20056206 2010
25
Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response. 54 61
20231875 2010
26
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. 54 61
19963135 2010
27
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
28
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
29
Hereditary kidney cancer: unique opportunity for disease-based therapy. 61 54
19402075 2009
30
The clinical implications of the genetics of renal cell carcinoma. 54 61
19285230 2009
31
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. 61 54
19075141 2008
32
Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer. 54 61
18986479 2008
33
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. 54 61
18503824 2008
34
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. 54 61
18366737 2008
35
A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein. 54 61
17960613 2008
36
The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. 61 54
17895761 2007
37
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer. 54 61
17383644 2007
38
Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability. 61 54
17520677 2007
39
Conventional renal cancer in a patient with fumarate hydratase mutation. 61 54
17270241 2007
40
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling? 61 54
17418405 2007
41
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression. 61 54
17613550 2007
42
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. 61 54
17392716 2007
43
Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. 54 61
17287871 2007
44
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma. 61 54
16639410 2006
45
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients. 61 54
16477632 2006
46
Increased risk of cancer in patients with fumarate hydratase germline mutation. 54 61
16155190 2006
47
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas. 54 61
15949892 2006
48
The genetics of uterine leiomyomata: what clinicians need to know. 61 54
16582132 2006
49
Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. 54 61
15987702 2005
50
Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. 61 54
16029320 2005

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 161)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FH NM_000143.3(FH):c.301C>T (p.Arg101Ter) SNV Pathogenic 16232 rs121913120 GRCh37: 1:241676980-241676980
GRCh38: 1:241513680-241513680
2 FH NM_000143.3(FH):c.669_670AG[1] (p.Glu224fs) Microsatellite Pathogenic 16234 rs780001199 GRCh37: 1:241671969-241671970
GRCh38: 1:241508669-241508670
3 FH NM_000143.3(FH):c.1027C>T (p.Arg343Ter) SNV Pathogenic 16235 rs121913122 GRCh37: 1:241667423-241667423
GRCh38: 1:241504123-241504123
4 FH NM_000143.3(FH):c.302G>C (p.Arg101Pro) SNV Pathogenic 16238 rs75086406 GRCh37: 1:241676979-241676979
GRCh38: 1:241513679-241513679
5 FH NM_000143.3(FH):c.912_918del (p.Phe305fs) Deletion Pathogenic 198391 rs794727836 GRCh37: 1:241667532-241667538
GRCh38: 1:241504232-241504238
6 FH NM_000143.3(FH):c.905-1G>A SNV Pathogenic 208374 rs797044973 GRCh37: 1:241667546-241667546
GRCh38: 1:241504246-241504246
7 FH NM_000143.3(FH):c.553_554insTG (p.Gln185fs) Insertion Pathogenic 393565 rs768182640 GRCh37: 1:241675268-241675269
GRCh38: 1:241511968-241511969
8 FH NM_000143.3(FH):c.560C>G (p.Ser187Ter) SNV Pathogenic 92456 rs398123166 GRCh37: 1:241672081-241672081
GRCh38: 1:241508781-241508781
9 FH NM_000143.3(FH):c.1083_1086del (p.Glu362fs) Deletion Pathogenic 214399 rs756469140 GRCh37: 1:241667364-241667367
GRCh38: 1:241504064-241504067
10 FH NM_000143.3(FH):c.1126C>T (p.Gln376Ter) SNV Pathogenic 92448 rs398123160 GRCh37: 1:241665853-241665853
GRCh38: 1:241502553-241502553
11 FH NM_000143.3(FH):c.1293del (p.Glu432fs) Deletion Pathogenic 92452 rs398123163 GRCh37: 1:241663834-241663834
GRCh38: 1:241500534-241500534
12 FH NM_000143.3(FH):c.133-1G>A SNV Pathogenic 214426 rs863224011 GRCh37: 1:241680617-241680617
GRCh38: 1:241517317-241517317
13 FH NM_000143.3(FH):c.239dup (p.Ile81fs) Duplication Pathogenic 393558 rs1553341942 GRCh37: 1:241680509-241680510
GRCh38: 1:241517209-241517210
14 FH NM_000143.3(FH):c.722_738+3del Deletion Pathogenic 393570 rs1064792900 GRCh37: 1:241671900-241671919
GRCh38: 1:241508600-241508619
15 FH NM_000143.3(FH):c.1189G>A (p.Gly397Arg) SNV Pathogenic 214422 rs863224007 GRCh37: 1:241665790-241665790
GRCh38: 1:241502490-241502490
16 FH NM_000143.3(FH):c.1041del (p.Gly348fs) Deletion Pathogenic 393576 rs1060499641 GRCh37: 1:241667409-241667409
GRCh38: 1:241504109-241504109
17 FH NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer) Microsatellite Pathogenic 214408 rs863223995 GRCh37: 1:241675423-241675427
GRCh38: 1:241512123-241512127
18 FH NM_000143.3(FH):c.439dup (p.Thr147fs) Duplication Pathogenic 393563 rs1060499633 GRCh37: 1:241675382-241675383
GRCh38: 1:241512082-241512083
19 FH NM_000143.3(FH):c.139C>T (p.Gln47Ter) SNV Pathogenic 214389 rs863223980 GRCh37: 1:241680610-241680610
GRCh38: 1:241517310-241517310
20 FH NM_000143.3(FH):c.1093A>G (p.Ser365Gly) SNV Pathogenic 214374 rs863223966 GRCh37: 1:241667357-241667357
GRCh38: 1:241504057-241504057
21 FH NM_000143.3(FH):c.1138dup (p.Met380fs) Duplication Pathogenic 393579 rs781466938 GRCh37: 1:241665840-241665841
GRCh38: 1:241502540-241502541
22 FH NM_000143.3(FH):c.1298_1340dup (p.Met449fs) Duplication Pathogenic 393581 rs1553340681 GRCh37: 1:241663786-241663787
GRCh38: 1:241500486-241500487
23 FH NM_000143.3(FH):c.267+1_267+10del Deletion Pathogenic 393559 rs1060499629 GRCh37: 1:241680472-241680481
GRCh38: 1:241517172-241517181
24 FH NM_000143.3(FH):c.1209del (p.Phe403fs) Deletion Pathogenic 393580 rs1060499644 GRCh37: 1:241665770-241665770
GRCh38: 1:241502470-241502470
25 FH NM_000143.3(FH):c.1063G>T (p.Glu355Ter) SNV Pathogenic 393577 rs1060499642 GRCh37: 1:241667387-241667387
GRCh38: 1:241504087-241504087
26 FH NM_000143.3(FH):c.395del (p.Lys131_Leu132insTer) Deletion Pathogenic 393561 rs1060499631 GRCh37: 1:241675427-241675427
GRCh38: 1:241512127-241512127
27 FH NM_000143.3(FH):c.524del (p.Val175fs) Deletion Pathogenic 393564 rs1060499634 GRCh37: 1:241675298-241675298
GRCh38: 1:241511998-241511998
28 FH NM_000143.3(FH):c.157G>T (p.Glu53Ter) SNV Pathogenic 393557 rs863224013 GRCh37: 1:241680592-241680592
GRCh38: 1:241517292-241517292
29 FH NM_000143.3(FH):c.1118A>G (p.Asn373Ser) SNV Pathogenic 393578 rs1060499643 GRCh37: 1:241665861-241665861
GRCh38: 1:241502561-241502561
30 FH NM_000143.3(FH):c.322C>T (p.Gln108Ter) SNV Pathogenic 393560 rs1060499630 GRCh37: 1:241676959-241676959
GRCh38: 1:241513659-241513659
31 FH NM_000143.3(FH):c.1500G>A (p.Trp500Ter) SNV Pathogenic 265151 rs886039368 GRCh37: 1:241661161-241661161
GRCh38: 1:241497861-241497861
32 FH NM_000143.3(FH):c.267+1G>C SNV Pathogenic 237112 rs878853691 GRCh37: 1:241680481-241680481
GRCh38: 1:241517181-241517181
33 FH NM_000143.3(FH):c.808del (p.Tyr270fs) Deletion Pathogenic 393572 rs1060499637 GRCh37: 1:241669399-241669399
GRCh38: 1:241506099-241506099
34 overlap with 14 genes Deletion Pathogenic 689438 GRCh37: 1:237244834-242310908
GRCh38:
35 FH NM_000143.4(FH):c.893_904+7del Deletion Pathogenic 827768 rs1573881533 GRCh37: 1:241669296-241669314
GRCh38: 1:241505996-241506014
36 FH NM_000143.4(FH):c.557G>A SNV Pathogenic 142654 rs587782618 GRCh37: 1:241672084-241672084
GRCh38: 1:241508784-241508784
37 FH NM_000143.3(FH):c.556-2A>T SNV Pathogenic 393566 rs750273092 GRCh37: 1:241672087-241672087
GRCh38: 1:241508787-241508787
38 FH NM_000143.3(FH):c.320A>C (p.Asn107Thr) SNV Pathogenic 92455 rs121913121 GRCh37: 1:241676961-241676961
GRCh38: 1:241513661-241513661
39 FH NM_000143.3(FH):c.698G>A (p.Arg233His) SNV Pathogenic 16236 rs121913123 GRCh37: 1:241671943-241671943
GRCh38: 1:241508643-241508643
40 FH NM_000143.3(FH):c.1210G>T (p.Glu404Ter) SNV Pathogenic 208375 rs797044974 GRCh37: 1:241665769-241665769
GRCh38: 1:241502469-241502469
41 FH NM_000143.3(FH):c.1020T>A (p.Asn340Lys) SNV Pathogenic 92447 rs398123159 GRCh37: 1:241667430-241667430
GRCh38: 1:241504130-241504130
42 FH NM_000143.3(FH):c.952C>T (p.His318Tyr) SNV Pathogenic 92458 rs398123168 GRCh37: 1:241667498-241667498
GRCh38: 1:241504198-241504198
43 FH NM_000143.3(FH):c.1255T>C (p.Ser419Pro) SNV Pathogenic 92451 rs200004220 GRCh37: 1:241663872-241663872
GRCh38: 1:241500572-241500572
44 FH NM_000143.3(FH):c.698G>T (p.Arg233Leu) SNV Pathogenic/Likely pathogenic 16237 rs121913123 GRCh37: 1:241671943-241671943
GRCh38: 1:241508643-241508643
45 FH NM_000143.3(FH):c.1067T>A (p.Leu356Ter) SNV Likely pathogenic 167066 rs727503927 GRCh37: 1:241667383-241667383
GRCh38: 1:241504083-241504083
46 FH NM_000143.4(FH):c.224del (p.Ser75fs) Deletion Likely pathogenic 933195 GRCh37: 1:241680525-241680525
GRCh38: 1:241517225-241517225
47 FH NM_000143.3(FH):c.1394A>G (p.Tyr465Cys) SNV Likely pathogenic 214425 rs863224010 GRCh37: 1:241661267-241661267
GRCh38: 1:241497967-241497967
48 FH NM_000143.3(FH):c.578_583del (p.Thr193_Ala194del) Deletion Likely pathogenic 393568 rs1060499635 GRCh37: 1:241672058-241672063
GRCh38: 1:241508758-241508763
49 FH NM_000143.3(FH):c.703C>G (p.His235Asp) SNV Likely pathogenic 393569 rs863223968 GRCh37: 1:241671938-241671938
GRCh38: 1:241508638-241508638
50 FH NM_000143.3(FH):c.731T>G (p.Leu244Arg) SNV Likely pathogenic 393571 rs1060499636 GRCh37: 1:241671910-241671910
GRCh38: 1:241508610-241508610

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

72
# 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

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 15)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.65 PTCH1 NFE2L2 LDHA
2 cerebral cortex development GO:0021987 9.55 HIF1A BNIP3
3 negative regulation of cell death GO:0060548 9.54 NFE2L2 BNIP3
4 response to hypoxia GO:0001666 9.54 LDHA HIF1A BNIP3
5 cellular response to hydrogen peroxide GO:0070301 9.52 NFE2L2 BNIP3
6 positive regulation of autophagy GO:0010508 9.51 HIF1A BNIP3
7 cellular response to hypoxia GO:0071456 9.5 NFE2L2 HIF1A BNIP3
8 positive regulation of blood vessel endothelial cell migration GO:0043536 9.49 NFE2L2 HIF1A
9 tricarboxylic acid cycle GO:0006099 9.46 SDHB FH
10 positive regulation of macroautophagy GO:0016239 9.43 HIF1A BNIP3
11 negative regulation of reactive oxygen species metabolic process GO:2000378 9.4 HIF1A BNIP3
12 regulation of aerobic respiration GO:1903715 9.26 HIF1A BNIP3
13 positive regulation of autophagy of mitochondrion GO:1903599 9.16 HIF1A BNIP3
14 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 8.96 NFE2L2 HIF1A
15 lactate metabolic process GO:0006089 8.62 LDHA HIF1A

Sources for Hereditary Leiomyomatosis and Renal Cell Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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