MCID: FMR011
MIFTS: 28

Fumarate Hydratase Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Fumarate Hydratase Deficiency

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Aliases & Descriptions for Fumarate Hydratase Deficiency:

Name: Fumarate Hydratase Deficiency 21 22
Fumarase Deficiency 21 22 65
 
Fumaric Aciduria 21 22 65
Autosomal Recessive Fumarate Hydratase Deficiency 22


Classifications:



Summaries for Fumarate Hydratase Deficiency

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MalaCards based summary: Fumarate Hydratase Deficiency, also known as fumarase deficiency, is related to kidney cancer and hypoxia. An important gene associated with Fumarate Hydratase Deficiency is FH (Fumarate Hydratase), and among its related pathways are HIF1Alpha Pathway and Cellular response to hypoxia. 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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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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Drugs for Fumarate Hydratase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1glutamineNutraceuticalPhase 1137

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of the Glutaminase Inhibitor CB-839 in Solid TumorsRecruitingNCT02071862Phase 1

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 Deficiency22 FH

Anatomical Context for Fumarate Hydratase Deficiency

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MalaCards organs/tissues related to Fumarate Hydratase Deficiency:

33
Kidney

Animal Models for Fumarate Hydratase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Fumarate Hydratase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5FH, HIF1A, JUNB, VHL
2MP:00053718.4FOS, HIF1A, JUNB, VHL
3MP:00107718.1FOS, HIF1A, JUNB, VHL
4MP:00020068.1FOS, HIF1A, JUNB, VHL
5MP:00053907.9FOS, HIF1A, JUNB, SRF, VHL
6MP:00053977.5FOS, HIF1A, JUNB, SRF, VHL
7MP:00053847.4FH, FOS, HIF1A, JUNB, SRF, VHL
8MP:00107687.3FH, FOS, HIF1A, JUNB, SRF, VHL
9MP:00053877.2FOS, HIF1A, JUNB, SRF, VHL
10MP:00053767.0FH, FOS, HIF1A, JUNB, SRF, VHL

Publications for Fumarate Hydratase Deficiency

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Articles related to Fumarate Hydratase Deficiency:

(show all 17)
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
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas. (19151755)
2009
9
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
10
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling? (17418405)
2007
11
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids. (16319128)
2006
12
Fumarate hydratase deficiency in monozygotic twins. (16876016)
2006
13
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. (12761039)
2003
14
Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies. (11117439)
2000
15
Fumarate hydratase deficiency. (9700607)
1998
16
Fumarate Hydratase Deficiency (20301679)
1993
17
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:

5
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.698G> A (p.Arg233His)single nucleotide variantPathogenicrs121913123GRCh37Chr 1, 241671943: 241671943
4FHNM_000143.3(FH): c.1433_1434insAAA (p.Lys477_Asn478insLys)insertionPathogenicrs367543046GRCh37Chr 1, 241661227: 241661228
5FHNM_000143.3(FH): c.521C> G (p.Pro174Arg)single nucleotide variantPathogenicrs199822819GRCh37Chr 1, 241675301: 241675301
6FHFH, DELdeletionPathogenic
7FHNM_000143.3(FH): c.1431_1433dupAAA (p.Lys477_Asn478insLys)duplicationLikely pathogenic, Pathogenicrs367543046GRCh37Chr 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 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5HIF1A, VHL
2
Show member pathways
9.5HIF1A, VHL
39.5HIF1A, VHL
4
Angiogenesis (CST)
Show member pathways
9.5HIF1A, VHL
5
Show member pathways
9.4FOS, HIF1A
6
Show member pathways
9.4FOS, HIF1A
79.4FOS, HIF1A
89.3FOS, SRF
9
Show member pathways
9.3FOS, SRF
109.3FOS, SRF
11
Show member pathways
9.3FOS, SRF
129.3FOS, SRF
13
Show member pathways
9.0FOS, JUNB
14
Show member pathways
9.0FOS, JUNB
159.0FOS, JUNB
16
Show member pathways
9.0FOS, JUNB
17
Show member pathways
9.0FOS, JUNB
189.0FOS, JUNB
199.0FOS, JUNB
208.5FOS, JUNB, SRF
21
Show member pathways
8.5FH, FOS, HIF1A, VHL
228.5FH, FOS, HIF1A, VHL
23
Show member pathways
7.5FOS, HIF1A, JUNB, SRF, 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
1transcription factor complexGO:00056679.0FOS, HIF1A, JUNB
2nucleoplasmGO:00056547.5FOS, HIF1A, JUNB, SRF, VHL

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1mRNA transcription from RNA polymerase II promoterGO:004278910.1HIF1A, SRF
2regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141810.1HIF1A, VHL
3heart loopingGO:000194710.0HIF1A, SRF
4trophectodermal cell differentiationGO:00018299.6JUNB, SRF
5response to toxic substanceGO:00096369.5FOS, SRF
6positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:19028959.5FOS, HIF1A, SRF
7cellular response to calcium ionGO:00712779.5FOS, JUNB
8muscle cell cellular homeostasisGO:00467169.5HIF1A, SRF
9cellular response to hormone stimulusGO:00328709.5FOS, JUNB
10response to cAMPGO:00515919.3FOS, JUNB
11response to mechanical stimulusGO:00096129.2FOS, JUNB
12positive regulation of cell differentiationGO:00455979.0JUNB, SRF, VHL
13positive regulation of transcription, DNA-templatedGO:00458938.7FOS, HIF1A, SRF, VHL
14response to cytokineGO:00340978.6FOS, JUNB, SRF
15positive regulation of transcription from RNA polymerase II promoterGO:00459448.1FOS, HIF1A, JUNB, SRF
16transcription from RNA polymerase II promoterGO:00063667.8FOS, HIF1A, JUNB, SRF
17regulation of transcription, DNA-templatedGO:00063557.4FOS, HIF1A, JUNB, SRF, VHL

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II transcription factor bindingGO:000107610.0HIF1A, SRF
2transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370510.0HIF1A, SRF
3histone deacetylase bindingGO:00428269.4HIF1A, SRF
4RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009788.8FOS, JUNB, SRF
5transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.5FOS, HIF1A, JUNB, SRF
6sequence-specific DNA bindingGO:00435658.1FOS, HIF1A, JUNB, SRF
7transcription factor activity, sequence-specific DNA bindingGO:00037007.8FOS, HIF1A, JUNB, SRF
8transcription factor bindingGO:00081347.6FOS, HIF1A, JUNB, SRF, VHL

Sources for Fumarate Hydratase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet