MCL
MCID: HRD029
MIFTS: 56

Hereditary Leiomyomatosis and Renal Cell Cancer (MCL) malady

Genetic diseases, Rare diseases, Nephrological diseases, Skin diseases, Cancer diseases, Immune diseases categories
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Summaries for Hereditary Leiomyomatosis and Renal Cell Cancer

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 1/9/2014

MalaCards: Hereditary Leiomyomatosis and Renal Cell Cancer, also known as hlrcc, is related to uterine fibroid and leiomyomatosis, and has symptoms including vaginal/vulvar neoplasm/tumor/carcinoma/cancer, megaesophagus/cardiospasm/congenital dilation of the esophagus/achalasia and uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer. An important gene associated with Hereditary Leiomyomatosis and Renal Cell Cancer is FH (fumarate hydratase), and among its related pathways are Glucose / Energy Metabolism and Citric acid cycle (TCA cycle). The compounds 5-aza-2deoxycytidine and 5fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include uterus, skin and kidney, and related mouse phenotype homeostasis/metabolism.

Genetics Home Reference:21 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.

Wikipedia:65 Reed?s syndrome (or familial leiomyomatosis cutis et uteri) is a rare inherited condition characterised... more...

Description from OMIM:47 150800

GeneReviews summary for hlrcc

Aliases & Classifications for Hereditary Leiomyomatosis and Renal Cell Cancer

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
hereditary leiomyomatosis and renal cell cancer:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

hereditary leiomyomatosis and renal cell cancer 19 43 21 49 62
hlrcc 19 43 21 45 49
leiomyomatosis and renal cell cancer, hereditary 43 20 22
mcul 43 21 49
multiple cutaneous and uterine leiomyomata 43 21
leiomyomatosis and renal cell cancer 21 47
leiomyomatosis familial 43 22
reed's syndrome 43 21
lrcc 43 21
mcl 43 21
hereditary leiomyomatosis and renal cell carcinoma 21
hereditary leiomyomatosis with renal carcinoma 49
familial leiomyomatosis and renal cell cancer 49
familial leiomyomatosis with renal carcinoma 49
multiple cutaneous and uterine leiomyomas 49
hereditary multiple cutaneous leiomyomas 49
familial multiple cutaneous leiomyomas 49
familial leiomyomatosis cutis et uteri 49
mucocutaneous lymph node syndrome 62
multiple cutaneous leiomyomata 43
leiomyoma, multiple cutaneous 62
multiple cutaneous leiomyoma 21
hereditary leiomyomatosis 49
familial leiomyomatosis 43
reed syndrome 49


External Ids:

ICD10 via Orphanet26 D23
OMIM47 150800

Related Diseases for Hereditary Leiomyomatosis and Renal Cell Cancer

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Hereditary Leiomyomatosis and Renal Cell Cancer:



Diseases related to hereditary leiomyomatosis and renal cell cancer

Symptoms for Hereditary Leiomyomatosis and Renal Cell Cancer

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

150800

Clinical features from OMIM:

150800

Symptoms:

49 (show all 10)
  • vaginal/vulvar neoplasm/tumor/carcinoma/cancer
  • megaesophagus/cardiospasm/congenital dilation of the esophagus/achalasia
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • esophageal neoplasm/tumor/carcinoma/cancer
  • skin tumors/lumps/epidermal cysts
  • muscle anomalies
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • pruritus/itching
  • cataract/lens opacification
  • autosomal dominant inheritance

Drugs & Therapeutics for Hereditary Leiomyomatosis and Renal Cell Cancer

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Hereditary Leiomyomatosis and Renal Cell Cancer

Search NIH Clinical Center for Hereditary Leiomyomatosis and Renal Cell Cancer

Genetic Tests for Hereditary Leiomyomatosis and Renal Cell Cancer

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20GeneTests, 22GTR
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Genetic tests related to Hereditary Leiomyomatosis and Renal Cell Cancer:

id Genetic test Affiliating Genes
1 Hereditary Leiomyomatosis and Renal Cell Cancer20 22 FH
2 Leiomyomatosis Familial22

Anatomical Context for Hereditary Leiomyomatosis and Renal Cell Cancer

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33MalaCards
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MalaCards organs/tissues related to Hereditary Leiomyomatosis and Renal Cell Cancer:

33
Uterus, Skin, Kidney, Smooth muscle, Lymph node, Cervix

Animal Models for Hereditary Leiomyomatosis and Renal Cell Cancer or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hereditary Leiomyomatosis and Renal Cell Cancer:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0FH, LDHA, BNIP3, THBS1

Publications for Hereditary Leiomyomatosis and Renal Cell Cancer

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52PubMed
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Articles related to Hereditary Leiomyomatosis and Renal Cell Cancer:

(show all 27)
idTitleAuthorsYear
1
Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer. (22982371)
2013
2
Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. (22565324)
2012
3
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance. (22086304)
2012
4
Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. (22127509)
2012
5
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
6
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
7
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. (20618355)
2011
8
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. (21404119)
2011
9
A case report of hereditary leiomyomatosis and renal cell cancer. (20510956)
2010
10
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? (19183174)
2009
11
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
12
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer. (19276158)
2009
13
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). (17908262)
2008
14
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. (19075141)
2008
15
Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. (17287871)
2007
16
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer. (17383644)
2007
17
Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. (17509289)
2007
18
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. (17392716)
2007
19
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation. (17034471)
2006
20
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. (16597677)
2006
21
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. (15937070)
2006
22
Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer. (16948378)
2006
23
Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome. (15586379)
2005
24
Hereditary leiomyomatosis and renal cell cancer (HLRCC). (15579034)
2004
25
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. (12772087)
2003
26
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. (12183404)
2002
27
Hereditary Leiomyomatosis and Renal Cell Cancer (20301430)
1993

Variations for Hereditary Leiomyomatosis and Renal Cell Cancer

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hereditary Leiomyomatosis and Renal Cell Cancer:

64
id Symbol AA change Variation ID SNP ID
1FHp.Lys230ArgVAR_002445
2FHp.Asn107ThrVAR_013497
3FHp.Ala117ProVAR_013498
4FHp.His180ArgVAR_013499
5FHp.Gln185ArgVAR_013500
6FHp.Arg233HisVAR_013501rs28933069
7FHp.Gly282ValVAR_013502
8FHp.Met328ArgVAR_013503

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

1
id Gene Name Type Significance SNP ID Assembly Location
1FHNM_000143.3(FH): c.301C> T (p.Arg101Ter)single nucleotide variantPathogenicrs121913120GRCh37Chr 1, 241676980: 241676980
2FHFH, 2-BP DELdeletionPathogenic
3FHNM_000143.3(FH): c.1027C> T (p.Arg343Ter)single nucleotide variantPathogenicrs121913122GRCh37Chr 1, 241667423: 241667423
4FHNM_000143.3(FH): c.698G> A (p.Arg233His)single nucleotide variantPathogenicrs121913123GRCh37Chr 1, 241671943: 241671943
5FHNM_000143.3(FH): c.698G> T (p.Arg233Leu)single nucleotide variantPathogenicrs121913123GRCh37Chr 1, 241671943: 241671943
6FHNM_000143.3(FH): c.302G> C (p.Arg101Pro)single nucleotide variantPathogenicrs75086406GRCh37Chr 1, 241676979: 241676979
7FHNM_000143.3(FH): c.320A> C (p.Asn107Thr)single nucleotide variantPathogenicrs121913121GRCh37Chr 1, 241676961: 241676961

Expression for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

Search GEO for disease gene expression data for Hereditary Leiomyomatosis and Renal Cell Cancer.

Pathways for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

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50PathCards, 5Cell Signaling Technology, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Hereditary Leiomyomatosis and Renal Cell Cancer according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1FH, LDHA
2
Show member pathways
TCA cycle38
pyruvate decarboxylation to acetyl CoA38
NAD phosphorylation and dephosphorylation38
TCA Cycle38
conversion of glucose to acetyl CoA and entry into the TCA cycle38
9.1FH, LDHA
39.1LDHA, BNIP3

Compounds for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

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45Novoseek, 61Tocris Bioscience, 51PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Hereditary Leiomyomatosis and Renal Cell Cancer according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
15-aza-2deoxycytidine459.5BNIP3, THBS1
25fluorouracil459.4BNIP3, THBS1
3sb 20358045 6110.3THBS1, BNIP3
4paclitaxel45 51 1111.3BNIP3, THBS1
5pyruvate459.2FH, LDHA
6agarose459.2THBS1, LDHA
7lactate458.8BNIP3, LDHA, FH
8nadh45 24 1110.8FH, LDHA
9vegf458.7LDHA, BNIP3, THBS1
10nitric oxide45 24 1110.7LDHA, BNIP3, THBS1
11tyrosine458.4FH, LDHA, THBS1
12oxygen45 249.3FH, LDHA, BNIP3, THBS1
13glucose458.2FH, LDHA, BNIP3, THBS1

GO Terms for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

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16Gene Ontology
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Cellular components related to Hereditary Leiomyomatosis and Renal Cell Cancer according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:0700628.5FH, LDHA, THBS1
2mitochondrionGO:0057398.3FH, LDHA, BNIP3

Biological processes related to Hereditary Leiomyomatosis and Renal Cell Cancer according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to hypoxiaGO:0016669.3BNIP3, THBS1
2cellular metabolic processGO:0442378.8FH, LDHA

Products for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Leiomyomatosis and Renal Cell Cancer

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet