MCL
MCID: HRD029
MIFTS: 37

Hereditary Leiomyomatosis and Renal Cell Cancer (MCL) malady

Immune, Nephrological, Cancer, Genetic categories

Summaries for Hereditary Leiomyomatosis and Renal Cell Cancer

Sources:
43NIH Rare Diseases, 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 leiomyoma, uterine, somatic and uterine fibroid. 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 Glycolysis and gluconeogenesis (short map). The compounds glucose and 5fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and lymph node, and related mouse phenotype homeostasis/metabolism.

Description from OMIM:47 150800

GeneReviews summary for hlrcc

Aliases & Classifications for Hereditary Leiomyomatosis and Renal Cell Cancer

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer, Genetic
Anatomical: Immune, Nephrological


Aliases & Descriptions:

hereditary leiomyomatosis and renal cell cancer 19 43 20 22 21 61
hlrcc 19 43 21 45
leiomyomatosis and renal cell cancer 21 47
leiomyomatosis familial 43 22
mcul 43 21
lrcc 43 21
mcl 43 21
hereditary leiomyomatosis and renal cell carcinoma 21
multiple cutaneous and uterine leiomyomata 21
mucocutaneous lymph node syndrome 61
leiomyoma, multiple cutaneous 61
multiple cutaneous leiomyoma 21
familial leiomyomatosis 43
reed's syndrome 21


Related Diseases for Hereditary Leiomyomatosis and Renal Cell Cancer

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hereditary Leiomyomatosis and Renal Cell Cancer:



Diseases related to hereditary leiomyomatosis and renal cell cancer

Clinical Features for Hereditary Leiomyomatosis and Renal Cell Cancer

Sources:
47OMIM
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Clinical features from OMIM:

150800

Clinical synopsis from OMIM:

150800

Drugs & Therapeutics for Hereditary Leiomyomatosis and Renal Cell Cancer

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Hereditary Leiomyomatosis and Renal Cell Cancer

Drug clinical trials:

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Genetic Tests for Hereditary Leiomyomatosis and Renal Cell Cancer

Sources:
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

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

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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Hereditary Leiomyomatosis and Renal Cell Cancer:

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

Publications for Hereditary Leiomyomatosis and Renal Cell Cancer

Genetic Variations for Hereditary Leiomyomatosis and Renal Cell Cancer

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Leiomyomatosis and Renal Cell Cancer:

63
id Symbol AA change Variation 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

Expression for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

Sources:
1BioGPS, 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

Sources:
4Cell Signaling Technology, 12EMD Millipore, 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
19.1LDHA, FH
2
Hide members
9.1LDHA, FH
39.1LDHA, BNIP3

Compounds for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Hereditary Leiomyomatosis and Renal Cell Cancer according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glucose459.5BNIP3, THBS1
25fluorouracil459.3THBS1, BNIP3
35-aza-2deoxycytidine459.2BNIP3, THBS1
4agarose459.0LDHA, THBS1
5pyruvate458.8LDHA, FH
6lactate458.8LDHA, FH, BNIP3
7vegf458.6BNIP3, THBS1, LDHA
8nitric oxide45 11 2410.6LDHA, THBS1, BNIP3
9oxygen45 249.2LDHA, THBS1, FH, BNIP3

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

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.6LDHA, FH, BNIP3

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

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

Products for genes affiliated with Hereditary Leiomyomatosis and Renal Cell Cancer

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  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Leiomyomatosis and Renal Cell Cancer

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet