MCID: FMR011
MIFTS: 34

Fumarate Hydratase Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Fumarate Hydratase Deficiency

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Fumarate Hydratase Deficiency, Aliases & Descriptions:

Name: Fumarate Hydratase Deficiency 19 20
Fumarase Deficiency 19 60
 
Fumaric Aciduria 19 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Summaries for Fumarate Hydratase Deficiency

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MalaCards based summary: Fumarate Hydratase Deficiency, also known as fumarase deficiency, is related to leiomyomatosis and renal cell carcinoma. An important gene associated with Fumarate Hydratase Deficiency is FH (fumarate hydratase), and among its related pathways are Trk receptor signaling mediated by the MAPK pathway and PDGFR-alpha signaling pathway. The compounds pilocarpine and cocl2 have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotypes are renal/urinary system and limbs/digits/tail.

GeneReviews summary for fum

Related Diseases for Fumarate Hydratase Deficiency

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Diseases related to Fumarate Hydratase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1leiomyomatosis30.9VHL, FH
2renal cell carcinoma30.6VHL, FH
3kidney cancer30.2VHL, FH, FOS, HIF1A
4hypoxia10.6
5fumarase deficiency10.5
6cystadenoma10.3VHL
7leiomyoma10.3
8uterine fibroid10.3
9leiomyomatosis and renal cell cancer10.2FH, HIF1A
10polyhydramnios10.2
11biliary atresia10.2
12cerebritis10.2
13mitochondrial encephalomyopathy10.2
14encephalomyopathy10.2
15hypotonia10.2
16cystic kidney10.1VHL, FH
17oxyphilic adenoma10.1VHL, FH
18hemangioblastoma10.1HIF1A, VHL
19von hippel-lindau syndrome10.1HIF1A, VHL
20polycythemia10.1HIF1A, VHL
21microvascular complications of diabetes 510.1HIF1A, SRF
22glioblastoma multiforme10.0VHL, HIF1A
23paraganglioma10.0VHL, FH, HIF1A
24renal clear cell carcinoma10.0HIF1A, FH, VHL
25t-cell leukemia9.8FOS, SRF, JUNB
26gastric cancer, somatic9.8VHL, JUNB, HIF1A
27retinoblastoma9.7JUNB, FOS, VHL
28astrocytoma9.7HIF1A, FOS, VHL
29glioblastoma9.7HIF1A, FOS, VHL
30adenocarcinoma9.7HIF1A, JUNB, SRF, VHL
31rheumatoid arthritis9.7FOS, SRF, JUNB
32ovarian cancer, somatic9.7FOS, SRF, HIF1A
33osteosarcoma, somatic9.6HIF1A, JUNB, SRF, FOS
34colorectal cancer9.6HIF1A, SRF, FOS
35lung cancer9.6VHL, SRF, HIF1A
36hepatocellular carcinoma9.6HIF1A, JUNB, SRF, FOS
37malignant glioma9.6VHL, FOS, JUNB, HIF1A
38burkitt lymphoma9.6JUNB, SRF, FOS, VHL
39tongue squamous cell carcinoma9.5HIF1A, SRF, FOS, VHL
40pheochromocytoma9.4HIF1A, JUNB, FOS, FH, VHL
41breast cancer9.3VHL, FOS, SRF, JUNB, HIF1A

Graphical network of the top 20 diseases related to Fumarate Hydratase Deficiency:



Diseases related to fumarate hydratase deficiency

Symptoms for Fumarate Hydratase Deficiency

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Drugs & Therapeutics for Fumarate Hydratase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Fumarate Hydratase Deficiency

Search NIH Clinical Center for Fumarate Hydratase Deficiency

Genetic Tests for Fumarate Hydratase Deficiency

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Genetic tests related to Fumarate Hydratase Deficiency:

id Genetic test Affiliating Genes
1 Fumarate Hydratase Deficiency20 FH

Anatomical Context for Fumarate Hydratase Deficiency

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MalaCards organs/tissues related to Fumarate Hydratase Deficiency:

31
Kidney

Animal Models for Fumarate Hydratase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Fumarate Hydratase Deficiency:

35 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3HIF1A, JUNB, FH, VHL
2MP:00053718.3VHL, FOS, JUNB, HIF1A
3MP:00053808.3VHL, FOS, SRF, HIF1A
4MP:00020068.2HIF1A, JUNB, FOS, VHL
5MP:00107718.1HIF1A, JUNB, FOS, VHL
6MP:00028738.1HIF1A, SRF, FOS, VHL
7MP:00053858.1VHL, SRF, JUNB, HIF1A
8MP:00053907.8HIF1A, JUNB, SRF, FOS, VHL
9MP:00053977.7VHL, FOS, SRF, JUNB, HIF1A
10MP:00053877.6VHL, FOS, SRF, JUNB, HIF1A
11MP:00053847.4VHL, FH, FOS, SRF, JUNB, HIF1A
12MP:00053767.4HIF1A, JUNB, SRF, FOS, FH, VHL
13MP:00107687.3HIF1A, JUNB, SRF, FOS, FH, VHL

Publications for Fumarate Hydratase Deficiency

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Articles related to Fumarate Hydratase Deficiency:

(show all 18)
idTitleAuthorsYear
1
Molecular pathways: Fumarate hydratase-deficient kidney cancer--targeting the Warburg effect in cancer. (23633457)
2013
2
Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency. (23499446)
2013
3
A novel fumarate hydratase-deficient HLRCC kidney cancer cell line, UOK268: a model of the Warburg effect in cancer. (22867999)
2012
4
The glycolytic shift in fumarate-hydratase-deficient kidney cancer lowers AMPK levels, increases anabolic propensities and lowers cellular iron levels. (21907923)
2011
5
Structural basis of fumarate hydratase deficiency. (21445611)
2011
6
Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism. (20660115)
2010
7
Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis. (20978192)
2010
8
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. (19963135)
2010
9
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas. (19151755)
2009
10
Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species. (19470762)
2009
11
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling? (17418405)
2007
12
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids. (16319128)
2006
13
Fumarate hydratase deficiency in monozygotic twins. (16876016)
2006
14
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. (12761039)
2003
15
Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies. (11117439)
2000
16
Fumarate hydratase deficiency. (9700607)
1998
17
Fumarate Hydratase Deficiency (20301679)
1993
18
Variability of clinical presentation in fumarate hydratase deficiency. (1432428)
1992

Variations for Fumarate Hydratase Deficiency

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Clinvar genetic disease variations for Fumarate Hydratase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FHNM_000143.3(FH): c.793G> A (p.Ala265Thr)single nucleotide variantPathogenicrs387906545GRCh37Chr 1, 241669414: 241669414
2FHNM_000143.3(FH): c.1084G> C (p.Glu362Gln)single nucleotide variantPathogenicrs121913119GRCh37Chr 1, 241667366: 241667366
3FHNM_000143.3(FH): c.1127A> C (p.Gln376Pro)single nucleotide variantPathogenicrs200796606GRCh37Chr 1, 241665852: 241665852
4FHNM_000143.3(FH): c.1431_1433dupAAA (p.Lys477_Asn478insLys)duplicationPathogenicrs367543046GRCh37Chr 1, 241661228: 241661230

Expression for genes affiliated with Fumarate Hydratase Deficiency

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Search GEO for disease gene expression data for Fumarate Hydratase Deficiency.

Pathways for genes affiliated with Fumarate Hydratase Deficiency

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Pathways related to Fumarate Hydratase Deficiency according to GeneCards Suite gene sharing:

(show all 40)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4SRF, FOS
29.4FOS, SRF
39.4SRF, FOS
49.4FOS, SRF
59.4FOS, SRF
6
Show member pathways
9.4SRF, FOS
7
Show member pathways
9.4FOS, SRF
89.4HIF1A, VHL
9
Show member pathways
VEGFR1 specific signals36
9.4VHL, HIF1A
109.4VHL, HIF1A
119.4HIF1A, VHL
129.4HIF1A, VHL
13
Show member pathways
9.4VHL, HIF1A
14
Show member pathways
Development Ligand dependent activation of the ESR1 AP 1 pathway58
9.3FOS, HIF1A
15
Show member pathways
9.3FOS, HIF1A
169.3HIF1A, FOS
17
Show member pathways
9.3FOS, HIF1A
18
Show member pathways
Immune response IL 3 activation and signaling pathway58
9.1FOS, JUNB
19
Show member pathways
9.1FOS, JUNB
20
Show member pathways
Immune response MIF in innate immunity response58
9.1FOS, JUNB
219.1FOS, JUNB
229.1JUNB, FOS
23
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells58
Oncostatin M Signaling Pathway36
9.1FOS, JUNB
249.1JUNB, FOS
259.1FOS, JUNB
26
Show member pathways
Ras signaling in the CD4+ TCR pathway36
9.1FOS, JUNB
27
Show member pathways
9.1FOS, JUNB
289.1FOS, JUNB
299.1JUNB, FOS
309.1FOS, JUNB
31
Show member pathways
Calcium signaling in the CD4+ TCR pathway36
9.1JUNB, FOS
32
Show member pathways
IL27-mediated signaling events36
9.1JUNB, FOS
339.1JUNB, FOS
349.0HIF1A, FH, VHL
35
Show member pathways
8.9HIF1A, FOS, VHL
36
Show member pathways
8.6FOS, SRF, JUNB
37
Show member pathways
8.6FOS, SRF, JUNB
38
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
8.5HIF1A, JUNB, FOS
398.5VHL, FH, FOS, HIF1A
40
Show member pathways
7.5HIF1A, JUNB, SRF, FOS, VHL

Compounds for genes affiliated with Fumarate Hydratase Deficiency

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Compounds related to Fumarate Hydratase Deficiency according to GeneCards Suite gene sharing:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1pilocarpine43 28 1211.8FOS, SRF
2cocl2439.8VHL, HIF1A
3cobalt chloride439.8HIF1A, VHL
4sunitinib43 49 1211.7VHL, HIF1A
5deferoxamine43 1210.7HIF1A, VHL
6cobalt43 2410.6VHL, HIF1A
7bapta439.6FOS, HIF1A
8sch 39166439.6FOS, JUNB
9sch 23390439.5FOS, JUNB
10dizocilpine439.5FOS, JUNB
11fumarate43 1210.4VHL, FH, HIF1A
12alpha-ketoglutarate439.4HIF1A, FH, VHL
13succinate439.4VHL, FH, HIF1A
14naloxone43 28 49 1212.3FOS, JUNB
15agar439.2FOS, SRF, HIF1A
16ly294002439.2HIF1A, FOS, VHL
17amphetamine43 49 1211.1JUNB, FOS
18lactate439.1HIF1A, SRF, FH
19iron43 2410.1VHL, SRF, HIF1A
20superoxide43 2410.0HIF1A, SRF, FH
21capsaicin43 2810.0FOS, HIF1A
22ionomycin439.0FOS, SRF, JUNB
2312-o-tetradecanoylphorbol 13-acetate439.0FOS, SRF, JUNB
24nmda43 289.9JUNB, SRF, FOS
25forskolin43 49 1210.9JUNB, SRF, FOS
26proline438.9HIF1A, SRF, FH, VHL
27arachidonic acid43 28 24 1211.9FOS, SRF, JUNB
28thymidine43 249.9FOS, SRF, HIF1A
29sb 20358043 599.9FOS, JUNB, HIF1A
30tamoxifen43 49 28 1211.8HIF1A, JUNB, FOS
31oxygen43 249.8HIF1A, SRF, FH, VHL
32pd 98,059438.8FOS, JUNB, HIF1A
33vegf438.7HIF1A, SRF, FOS, VHL
34cyclosporin a43 28 5910.7HIF1A, JUNB, SRF
35cyclic amp43 249.6FOS, SRF, JUNB
36leucine438.5FOS, SRF, JUNB
37actinomycin d438.5VHL, FOS, JUNB, HIF1A
38atp43 289.5HIF1A, JUNB, SRF, FH
39genistein43 28 59 2 24 1213.4HIF1A, JUNB, SRF, FOS
40pge2438.4HIF1A, JUNB, SRF, FOS
41cycloheximide438.4HIF1A, JUNB, SRF, FOS
42dexamethasone43 49 28 1211.4HIF1A, JUNB, SRF, FOS
43threonine438.4HIF1A, JUNB, SRF, FOS
44retinoic acid43 249.3FOS, SRF, JUNB, HIF1A
45glucose438.1HIF1A, JUNB, SRF, FH, VHL
46oligonucleotide438.0HIF1A, JUNB, SRF, FOS, VHL
47phosphatidylinositol438.0VHL, FOS, SRF, JUNB, HIF1A
48estrogen438.0HIF1A, JUNB, SRF, FOS, VHL
49serine437.9HIF1A, JUNB, SRF, FOS, VHL
50tyrosine437.6HIF1A, JUNB, SRF, FOS, FH, VHL

GO Terms for genes affiliated with Fumarate Hydratase Deficiency

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Cellular components related to Fumarate Hydratase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056548.0VHL, FOS, JUNB, HIF1A
2nucleolusGO:00057307.8HIF1A, JUNB, FOS, VHL
3nucleusGO:00056347.5VHL, FOS, SRF, JUNB, HIF1A

Biological processes related to Fumarate Hydratase Deficiency according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614189.6HIF1A, VHL
2mRNA transcription from RNA polymerase II promoterGO:00427899.6SRF, HIF1A
3muscle cell cellular homeostasisGO:00467169.6HIF1A, SRF
4response to light stimulusGO:00094169.4JUNB, FOS
5heart loopingGO:00019479.4HIF1A, SRF
6cellular response to hypoxiaGO:00714569.4VHL, HIF1A
7trophectodermal cell differentiationGO:00018299.4JUNB, SRF
8response to corticosteroneGO:00514129.4FOS, JUNB
9cellular response to hormone stimulusGO:00328709.3FOS, JUNB
10response to progesteroneGO:00325709.3FOS, JUNB
11cellular response to calcium ionGO:00712779.3JUNB, FOS
12response to cAMPGO:00515919.2FOS, JUNB
13response to mechanical stimulusGO:00096129.1FOS, JUNB
14response to toxic substanceGO:00096369.1FOS, SRF
15positive regulation of cell differentiationGO:00455979.0VHL, SRF, JUNB
16response to cytokineGO:00340978.9JUNB, SRF, FOS
17positive regulation of transcription, DNA-templatedGO:00458938.8HIF1A, FOS, VHL
18positive regulation of transcription from RNA polymerase II promoterGO:00459448.3FOS, SRF, JUNB, HIF1A

Molecular functions related to Fumarate Hydratase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor binding transcription factor activityGO:00010769.4SRF, HIF1A
2RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:00010779.2SRF, HIF1A
3double-stranded DNA bindingGO:00036909.1FOS, JUNB
4RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.0SRF, HIF1A
5transcription factor bindingGO:00081348.5VHL, FOS, SRF, HIF1A
6sequence-specific DNA binding transcription factor activityGO:00037008.0HIF1A, JUNB, SRF, FOS

Products for genes affiliated with Fumarate Hydratase Deficiency

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Sources for Fumarate Hydratase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet