Aliases & Classifications for Fumarate Hydratase Deficiency

MalaCards integrated aliases for Fumarate Hydratase Deficiency:

Name: Fumarate Hydratase Deficiency 24
Fumarase Deficiency 24 73
Fumaric Aciduria 24 73
Fumarate Hydratase 13

External Ids:

Summaries for Fumarate Hydratase Deficiency

MalaCards based summary : Fumarate Hydratase Deficiency, also known as fumarase deficiency, is related to renal cell carcinoma, nonpapillary and renal cell carcinoma, papillary, 1, and has symptoms including seizures An important gene associated with Fumarate Hydratase Deficiency is FH (Fumarate Hydratase), and among its related pathways/superpathways are ERK Signaling and Regulation of lipid metabolism Insulin signaling-generic cascades. Affiliated tissues include kidney, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

GeneReviews: NBK1506

Related Diseases for Fumarate Hydratase Deficiency

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



Diseases related to Fumarate Hydratase Deficiency

Symptoms & Phenotypes for Fumarate Hydratase Deficiency

UMLS symptoms related to Fumarate Hydratase Deficiency:


seizures

GenomeRNAi Phenotypes related to Fumarate Hydratase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.4 VHL
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.4 JUNB HIF1A
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.4 JUNB
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.4 JUNB
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.4 JUNB VHL HIF1A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.4 HIF1A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.4 JUNB
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.4 JUNB
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.4 HIF1A

MGI Mouse Phenotypes related to Fumarate Hydratase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.95 FH FOS HIF1A JUNB SRF VHL
2 homeostasis/metabolism MP:0005376 9.88 FH FOS HIF1A JUNB SRF VHL
3 hematopoietic system MP:0005397 9.83 FOS HIF1A JUNB SRF VHL
4 immune system MP:0005387 9.77 FOS HIF1A JUNB SRF VHL
5 craniofacial MP:0005382 9.76 FOS HIF1A SRF VHL
6 mortality/aging MP:0010768 9.73 FH FOS HIF1A JUNB SRF VHL
7 limbs/digits/tail MP:0005371 9.62 FOS HIF1A JUNB VHL
8 neoplasm MP:0002006 9.46 FOS HIF1A JUNB VHL
9 renal/urinary system MP:0005367 9.26 FH HIF1A JUNB VHL
10 skeleton MP:0005390 9.02 FOS HIF1A JUNB SRF VHL

Drugs & Therapeutics for Fumarate Hydratase Deficiency

Search Clinical Trials , NIH Clinical Center for Fumarate Hydratase Deficiency

Genetic Tests for Fumarate Hydratase Deficiency

Anatomical Context for Fumarate Hydratase Deficiency

MalaCards organs/tissues related to Fumarate Hydratase Deficiency:

41
Kidney

Publications for Fumarate Hydratase Deficiency

Articles related to Fumarate Hydratase Deficiency:

(show top 50) (show all 52)
# Title Authors Year
1
Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma. ( 29309300 )
2018
2
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet. ( 29052812 )
2017
3
Fumarase Deficiency Causes Protein and Metabolite Succination and Intoxicates Mycobacterium tuberculosis. ( 28219662 )
2017
4
Programmed death-1 (PD-1) receptor/PD-1 ligand (PD-L1) expression in fumarate hydratase-deficient renal cell carcinoma. ( 28807336 )
2017
5
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings. ( 26574848 )
2016
6
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. ( 26900816 )
2016
7
Fumarase-deficient Uterine Leiomyomas: An Immunohistochemical, Molecular Genetic, and Clinicopathologic Study of 86 Cases. ( 27454940 )
2016
8
Tubulocystic Carcinoma of the Kidney With Poorly Differentiated Foci: A Frequent Morphologic Pattern of Fumarate Hydratase-deficient Renal Cell Carcinoma. ( 27635946 )
2016
9
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer. ( 27541980 )
2016
10
Fumarate Hydratase-deficient Cell Line NCCFH1 as a New In Vitro Model of Hereditary Papillary Renal Cell Carcinoma Type 2. ( 26637880 )
2015
11
Infantile metabolic encephalopathy due to fumarase deficiency. ( 22772160 )
2013
12
Molecular pathways: Fumarate hydratase-deficient kidney cancer--targeting the Warburg effect in cancer. ( 23633457 )
2013
13
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene. ( 23612258 )
2013
14
Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency. ( 23499446 )
2013
15
Fumarase deficiency in dichorionic diamniotic twins. ( 24182348 )
2013
16
Mild fumarase deficiency and a trial of low protein diet. ( 22595425 )
2012
17
Fumarase Deficiency Associated With Non-Inflammatory Biliary Atresia. ( 22922375 )
2012
18
Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency. ( 22069215 )
2012
19
A novel fumarate hydratase-deficient HLRCC kidney cancer cell line, UOK268: a model of the Warburg effect in cancer. ( 22867999 )
2012
20
Structural basis of fumarate hydratase deficiency. ( 21445611 )
2011
21
Clinical and biochemical heterogeneity associated with fumarase deficiency. ( 21560188 )
2011
22
The glycolytic shift in fumarate-hydratase-deficient kidney cancer lowers AMPK levels, increases anabolic propensities and lowers cellular iron levels. ( 21907923 )
2011
23
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
24
Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis. ( 20978192 )
2010
25
Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism. ( 20660115 )
2010
26
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
27
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas. ( 19151755 )
2009
28
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. ( 18366737 )
2008
29
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling? ( 17418405 )
2007
30
Fumarate hydratase deficiency in monozygotic twins. ( 16876016 )
2006
31
Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1. ( 16575891 )
2006
32
Molecular and biochemical investigations in fumarase deficiency. ( 16510303 )
2006
33
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids. ( 16319128 )
2006
34
Fumarase deficiency presenting with periventricular cysts. ( 16151915 )
2005
35
A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency. ( 15221078 )
2004
36
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. ( 12761039 )
2003
37
[Fumarase deficiency]. ( 12013993 )
2002
38
[Fumarase deficiency]. ( 11596337 )
2001
39
Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment. ( 10896297 )
2000
40
Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies. ( 11117439 )
2000
41
Fumarate hydratase deficiency. ( 9700607 )
1998
42
Molecular analysis and prenatal diagnosis of human fumarase deficiency. ( 9635293 )
1998
43
[Fumarase deficiency]. ( 9590067 )
1998
44
Congenital fumarase deficiency presenting with hypotonia and areflexia. ( 8734035 )
1996
45
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. ( 8200987 )
1994
46
Fumarate Hydratase Deficiency ( 20301679 )
1993
47
Variability of clinical presentation in fumarate hydratase deficiency. ( 1432428 )
1992
48
Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero. ( 1557269 )
1992
49
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. ( 2314594 )
1990
50
A fourth case of fumarase deficiency. ( 2515378 )
1989

Variations for Fumarate Hydratase Deficiency

Expression for Fumarate Hydratase Deficiency

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

Pathways for Fumarate Hydratase Deficiency

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

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.46 FOS HIF1A JUNB SRF VHL
2
Show member pathways
12.59 FOS HIF1A JUNB
3 12.28 FH FOS HIF1A VHL
4
Show member pathways
11.75 FOS HIF1A JUNB
5 11.65 FOS SRF
6 11.63 HIF1A VHL
7 11.61 FOS JUNB
8 11.59 FOS JUNB
9
Show member pathways
11.58 HIF1A VHL
10
Show member pathways
11.55 FOS JUNB
11
Show member pathways
11.49 FOS JUNB
12
Show member pathways
11.44 FOS HIF1A
13 11.4 FOS HIF1A
14 11.39 FOS HIF1A JUNB
15
Show member pathways
11.37 FH FOS HIF1A VHL
16
Show member pathways
11.36 FOS JUNB
17 11.31 FOS JUNB
18 11.29 HIF1A VHL
19 11.26 FOS JUNB
20
Show member pathways
11.24 FOS SRF
21 11.18 FOS JUNB SRF
22 11.17 FOS JUNB
23 11.12 FOS SRF
24 11.01 FOS SRF
25 10.97 FOS JUNB
26
Show member pathways
10.95 FOS SRF
27
Show member pathways
10.91 FOS HIF1A
28 10.75 FOS SRF
29 10.54 HIF1A VHL

GO Terms for Fumarate Hydratase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.55 FOS HIF1A JUNB SRF VHL
2 transcription factor complex GO:0005667 9.13 FOS HIF1A JUNB
3 transcription factor AP-1 complex GO:0035976 8.62 FOS JUNB

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.91 FOS HIF1A JUNB SRF VHL
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.78 FOS HIF1A JUNB SRF
3 transcription by RNA polymerase II GO:0006366 9.67 FOS HIF1A JUNB SRF
4 cytokine-mediated signaling pathway GO:0019221 9.63 FOS HIF1A JUNB
5 positive regulation of transcription, DNA-templated GO:0045893 9.62 FOS HIF1A SRF VHL
6 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.57 HIF1A VHL
7 cellular response to calcium ion GO:0071277 9.56 FOS JUNB
8 response to mechanical stimulus GO:0009612 9.55 FOS JUNB
9 heart looping GO:0001947 9.54 HIF1A SRF
10 cellular response to hormone stimulus GO:0032870 9.52 FOS JUNB
11 response to cAMP GO:0051591 9.49 FOS JUNB
12 muscle cell cellular homeostasis GO:0046716 9.43 HIF1A SRF
13 mRNA transcription by RNA polymerase II GO:0042789 9.4 HIF1A SRF
14 response to cytokine GO:0034097 9.33 FOS JUNB SRF
15 trophectodermal cell differentiation GO:0001829 9.26 JUNB SRF
16 positive regulation of cell differentiation GO:0045597 9.13 JUNB SRF VHL
17 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 8.8 FOS HIF1A SRF

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.76 FOS HIF1A JUNB SRF
2 DNA binding transcription factor activity GO:0003700 9.67 FOS HIF1A JUNB SRF
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.58 FOS JUNB SRF
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.43 HIF1A SRF
5 RNA polymerase II activating transcription factor binding GO:0001102 9.32 FOS SRF
6 transcription factor activity, RNA polymerase II transcription factor binding GO:0001076 9.26 HIF1A SRF
7 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.26 FOS HIF1A JUNB SRF
8 transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000982 9.16 FOS SRF
9 transcription factor binding GO:0008134 9.02 FOS HIF1A JUNB SRF VHL

Sources for Fumarate Hydratase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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32 HPO
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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