MCL
MCID: HRD029
MIFTS: 57

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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NIH Rare Diseases:42 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 based summary: Hereditary Leiomyomatosis and Renal Cell Cancer, also known as hlrcc, is related to uterine fibroid and leiomyomatosis, and has symptoms including skin tumors/lumps/epidermal cysts, muscle anomalies and autosomal dominant inheritance. 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:46 150800

GeneReviews summary for hlrcc

Aliases & Classifications for Hereditary Leiomyomatosis and Renal Cell Cancer

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Hereditary Leiomyomatosis and Renal Cell Cancer, Aliases & Descriptions:

Name: Hereditary Leiomyomatosis and Renal Cell Cancer 19 42 21 48 62
Hlrcc 19 42 21 44 48
Leiomyomatosis and Renal Cell Cancer, Hereditary 42 20 22
Mcul 42 21 48
Multiple Cutaneous and Uterine Leiomyomata 42 21
Leiomyomatosis and Renal Cell Cancer 21 46
Leiomyomatosis Familial 42 22
Reed's Syndrome 42 21
Lrcc 42 21
Mcl 42 21
Hereditary Leiomyomatosis and Renal Cell Carcinoma 21
Hereditary Leiomyomatosis with Renal Carcinoma 48
Familial Leiomyomatosis and Renal Cell Cancer 48
 
Familial Leiomyomatosis with Renal Carcinoma 48
Multiple Cutaneous and Uterine Leiomyomas 48
Hereditary Multiple Cutaneous Leiomyomas 48
Familial Multiple Cutaneous Leiomyomas 48
Familial Leiomyomatosis Cutis Et Uteri 48
Mucocutaneous Lymph Node Syndrome 62
Multiple Cutaneous Leiomyomata 42
Leiomyoma, Multiple Cutaneous 62
Multiple Cutaneous Leiomyoma 21
Hereditary Leiomyomatosis 48
Familial Leiomyomatosis 42
Reed Syndrome 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
hereditary leiomyomatosis and renal cell cancer:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood


External Ids:

OMIM46 150800
ICD10 via Orphanet26 D23

Related Diseases for Hereditary Leiomyomatosis and Renal Cell Cancer

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Diseases related to Hereditary Leiomyomatosis and Renal Cell Cancer via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1uterine fibroid30.4FH, THBS1
2leiomyomatosis11.1
3multiple cutaneous and uterine leiomyomas10.6
4kidney cancer10.5
5male infertility10.4
6infertility10.4
7papillary renal cell carcinoma10.4
8renal cell carcinoma10.4
9leiomyoma10.4
10myopathy10.4
11hypoxia10.4
12cerebritis10.3
13myoma10.1
14night blindness skeletal anomalies unusual facies10.1
15night blindness - skeletal anomalies - dysmorphism10.1
16fumarate hydratase deficiency10.0
17bladder carcinoma9.9FH, THBS1
18malignant glioma9.7THBS1, BNIP3
19breast cancer9.6LDHA, BNIP3, THBS1
20prostate cancer9.6FH, BNIP3, THBS1

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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Symptoms by clinical synopsis from OMIM:

150800

Clinical features from OMIM:

150800

Symptoms:

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

HPO human phenotypes related to Hereditary Leiomyomatosis and Renal Cell Cancer:

(show all 16)
id Description Frequency HPO Source Accession
1 abnormality of the musculature hallmark (90%) HP:0003011
2 neoplasm of the skin hallmark (90%) HP:0008069
3 pruritus typical (50%) HP:0000989
4 cataract occasional (7.5%) HP:0000518
5 renal neoplasm occasional (7.5%) HP:0009726
6 uterine neoplasm occasional (7.5%) HP:0010784
7 vaginal neoplasm occasional (7.5%) HP:0100650
8 esophageal neoplasm occasional (7.5%) HP:0100751
9 cutaneous leiomyosarcoma rare (5%) HP:0006755
10 autosomal dominant inheritance HP:0000006
11 uterine leiomyoma HP:0000131
12 uterine leiomyosarcoma HP:0002891
13 decreased fumarate hydratase activity HP:0003536
14 incomplete penetrance HP:0003829
15 multiple cutaneous leiomyomas HP:0007437
16 cutaneous leiomyoma HP:0007620

Drugs & Therapeutics for Hereditary Leiomyomatosis and Renal Cell Cancer

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

32
Uterus, Skin, Kidney, Smooth muscle, Lymph node, Cervix

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0FH, LDHA, BNIP3, THBS1

Publications for Hereditary Leiomyomatosis and Renal Cell Cancer

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Articles related to Hereditary Leiomyomatosis and Renal Cell Cancer:

(show all 28)
idTitleAuthorsYear
1
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. (25012257)
2014
2
Myopathy in hereditary leiomyomatosis and renal cell cancer in an extended family. (25354562)
2014
3
Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. (25292446)
2014
4
Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer. (22982371)
2013
5
Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. (22565324)
2012
6
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance. (22086304)
2012
7
Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. (22127509)
2012
8
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
9
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
10
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. (20618355)
2011
11
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. (21404119)
2011
12
A case report of hereditary leiomyomatosis and renal cell cancer. (20510956)
2010
13
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? (19183174)
2009
14
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
15
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. (19075141)
2008
16
Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. (17287871)
2007
17
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer. (17383644)
2007
18
Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. (17509289)
2007
19
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. (17392716)
2007
20
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation. (17034471)
2006
21
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. (16597677)
2006
22
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. (15937070)
2006
23
Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer. (16948378)
2006
24
Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome. (15586379)
2005
25
Hereditary leiomyomatosis and renal cell cancer (HLRCC). (15579034)
2004
26
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. (12772087)
2003
27
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. (12183404)
2002
28
Hereditary Leiomyomatosis and Renal Cell Cancer (20301430)
1993

Variations for Hereditary Leiomyomatosis and Renal Cell Cancer

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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:

6
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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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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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 cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
9.1FH, LDHA
39.1LDHA, BNIP3

Compounds for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

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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-2deoxycytidine449.5THBS1, BNIP3
25fluorouracil449.4BNIP3, THBS1
3sb 20358044 6110.3THBS1, BNIP3
4paclitaxel44 50 1111.3THBS1, BNIP3
5pyruvate449.2FH, LDHA
6agarose449.2LDHA, THBS1
7lactate448.8FH, LDHA, BNIP3
8nadh44 24 1110.8FH, LDHA
9vegf448.7THBS1, BNIP3, LDHA
10nitric oxide44 24 1110.7LDHA, BNIP3, THBS1
11tyrosine448.4LDHA, THBS1, FH
12oxygen44 249.3THBS1, BNIP3, LDHA, FH
13glucose448.2THBS1, FH, LDHA, BNIP3

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

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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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Sources for Hereditary Leiomyomatosis and Renal Cell Cancer

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet