HLRCC
MCID: FHT001
MIFTS: 21

Fh Tumor Predisposition Syndrome (HLRCC)

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

Aliases & Classifications for Fh Tumor Predisposition Syndrome

MalaCards integrated aliases for Fh Tumor Predisposition Syndrome:

Name: Fh Tumor Predisposition Syndrome 24
Hereditary Leiomyomatosis Renal Cell Cancer 24
Multiple Cutaneous Uterine Leiomyomatosis 24
Reed's Syndrome 24
Mcl/mcul 24
Hlrcc 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is currently unknown, as most studies have focused on families with clinical manifestations.

Classifications:



Summaries for Fh Tumor Predisposition Syndrome

MalaCards based summary : Fh Tumor Predisposition Syndrome, also known as hereditary leiomyomatosis renal cell cancer, is related to renal cell carcinoma, papillary, 1 and leiomyomatosis. An important gene associated with Fh Tumor Predisposition Syndrome is FH (Fumarate Hydratase). The drugs Acetylcholine and Metformin have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and smooth muscle.

GeneReviews: NBK1252

Related Diseases for Fh Tumor Predisposition Syndrome

Diseases in the Tumor Predisposition Syndrome family:

Fh Tumor Predisposition Syndrome

Diseases related to Fh Tumor Predisposition Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, papillary, 1 11.6
2 leiomyomatosis 10.8
3 intravenous leiomyomatosis 10.8
4 renal cell carcinoma, nonpapillary 10.7
5 kidney cancer 10.6
6 chromophil renal cell carcinoma 10.4
7 leiomyoma, uterine 10.3
8 leiomyosarcoma 10.3
9 hereditary leiomyomatosis and renal cell cancer 10.1
10 pheochromocytoma 10.1
11 tumor predisposition syndrome 10.1
12 paraganglioma 10.1
13 adrenal gland pheochromocytoma 10.1
14 leiomyoma 10.1
15 myofibroma 10.1
16 cystic kidney disease 10.1
17 skin disease 10.1
18 erythrokeratoderma ''en cocardes'' 10.1
19 rare genetic skin disease 10.1
20 von hippel-lindau syndrome 10.1
21 autism 10.1
22 cryptorchidism, unilateral or bilateral 10.1
23 fumarase deficiency 10.1
24 asperger syndrome 10.1
25 autism spectrum disorder 10.1
26 papillary carcinoma 10.1
27 leiomyoma cutis 10.1
28 dartoic leiomyoma 10.1
29 hemangioblastoma 10.1
30 tyrosinemia 10.1
31 fumarate hydratase deficiency 10.1
32 48,xyyy 10.1

Graphical network of the top 20 diseases related to Fh Tumor Predisposition Syndrome:



Diseases related to Fh Tumor Predisposition Syndrome

Symptoms & Phenotypes for Fh Tumor Predisposition Syndrome

Drugs & Therapeutics for Fh Tumor Predisposition Syndrome

Drugs for Fh Tumor Predisposition Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
2
Metformin Approved Phase 1, Phase 2 657-24-9 14219 4091
3
Bevacizumab Approved, Investigational Phase 2 216974-75-3
4 Guadecitabine Investigational Phase 2 929901-49-5
5 abobotulinumtoxinA Phase 2
6 Cholinergic Agents Phase 2
7 Botulinum Toxins Phase 2
8 Botulinum Toxins, Type A Phase 2
9 Neurotransmitter Agents Phase 2
10 Hypoglycemic Agents Phase 1, Phase 2
11
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
12 Protein Kinase Inhibitors Phase 2
13 Angiogenesis Inhibitors Phase 2
14 Antineoplastic Agents, Immunological 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 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)
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 Completed NCT02495103 Phase 1, Phase 2 Vandetanib;Metformin;Vandetanib/Metformin
4 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
5 Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene and Characterization of the Predisposition to Renal Cancer Recruiting NCT00050752
6 MyVHL: Patient Natural History Study Recruiting NCT03749980
7 Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders Recruiting NCT00001238
8 Establishment of a Fibroid Tissue Bank Terminated NCT00710346

Search NIH Clinical Center for Fh Tumor Predisposition Syndrome

Genetic Tests for Fh Tumor Predisposition Syndrome

Anatomical Context for Fh Tumor Predisposition Syndrome

MalaCards organs/tissues related to Fh Tumor Predisposition Syndrome:

40
Kidney, Testes, Smooth Muscle, Skin, Uterus

Publications for Fh Tumor Predisposition Syndrome

Articles related to Fh Tumor Predisposition Syndrome:

(show top 50) (show all 67)
# Title Authors PMID Year
1
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma. 24
31444830 2020
2
Bevacizumab Plus Erlotinib Combination Therapy for Advanced Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma: A Multicenter Retrospective Analysis in Korean Patients. 24
30913859 2019
3
Long-term response of metastatic hereditary leiomyomatosis and renal cell carcinoma syndrome associated renal cell carcinoma to bevacizumab plus erlotinib after temsirolimus and axitinib treatment failures. 24
31182090 2019
4
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience. 24
30741757 2019
5
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC). 24
29423582 2018
6
Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma. 24
29978187 2018
7
Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair. 24
30013182 2018
8
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration. 24
29410489 2018
9
Next generation immunohistochemistry: Emerging substitutes to genetic testing? 24
28662997 2018
10
Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers. 24
28300276 2017
11
Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review. 24
28314682 2017
12
PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. 24
28620008 2017
13
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
14
Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach. 24
28400389 2017
15
Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism. 24
27037871 2016
16
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings. 24
26574848 2016
17
Timing, rates and spectra of human germline mutation. 24
26656846 2016
18
Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma. 24
26536169 2016
19
Efficacy of Intralesional Botulinum Toxin A for Treatment of Painful Cutaneous Leiomyomas: A Randomized Clinical Trial. 24
26244563 2015
20
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). 24
25985877 2015
21
Leiomyoma cutis: a focused review on presentation, management, and association with malignancy. 24
25605645 2015
22
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. 24
25012257 2014
23
Germline FH mutations presenting with pheochromocytoma. 24
25004247 2014
24
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. 24
24334767 2014
25
Molecular pathways: Fumarate hydratase-deficient kidney cancer--targeting the Warburg effect in cancer. 24
23633457 2013
26
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. 24
21404119 2011
27
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. 24
21398687 2011
28
Atypical intradermal smooth muscle neoplasms: clinicopathologic analysis of 84 cases and a reappraisal of cutaneous "leiomyosarcoma". 24
21358302 2011
29
Dual targeting of mitochondrial proteins: mechanism, regulation and function. 24
20637721 2011
30
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. 24
20618355 2011
31
Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient. 24
19967458 2010
32
Efficacy of sunitinib and sorafenib in metastatic papillary and chromophobe renal cell carcinoma. 24
18165647 2008
33
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). 24
17908262 2008
34
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma. 24
16639410 2006
35
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients. 24
16477632 2006
36
Increased risk of cancer in patients with fumarate hydratase germline mutation. 24
16155190 2006
37
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. 24
15937070 2006
38
Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. 24
15761418 2005
39
Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. 24
15724016 2005
40
Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. 24
15663510 2005
41
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. 24
12772087 2003
42
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 24
11865300 2002
43
Inherited susceptibility to uterine leiomyomas and renal cell cancer. 24
11248088 2001
44
Cutaneous leiomyomata with uterine leiomyomata. 24
4127477 1973
45
Reed's Syndrome - A Rare Case of Multiple Cutaneous and Uterine Leiomyomatosis With Renal Cyst. 61
31807460 2019
46
Reed's Syndrome. 61
29937565 2018
47
Multiple Cutaneous and Uterine Leiomyomatosis with Renal Involvement: Report of a Rare Association. 61
29527031 2018
48
Hereditary non-BRCA gynecological tumors. 61
26930387 2016
49
Reed's syndrome, a diagnosis not to forget. 61
27557598 2016
50
First Presentation of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Pregnancy. 61
26902252 2016

Variations for Fh Tumor Predisposition Syndrome

Expression for Fh Tumor Predisposition Syndrome

Search GEO for disease gene expression data for Fh Tumor Predisposition Syndrome.

Pathways for Fh Tumor Predisposition Syndrome

GO Terms for Fh Tumor Predisposition Syndrome

Sources for Fh Tumor Predisposition Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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