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 kidney cancer, 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, lung and liver, 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 HIF1A JUNB
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 HIF1A JUNB VHL
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, Lung, Liver, Prostate

Publications for Fumarate Hydratase Deficiency

Articles related to Fumarate Hydratase Deficiency:

(show all 39)
# Title Authors Year
1
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet. ( 29052812 )
2017
2
Fumarase Deficiency Causes Protein and Metabolite Succination and Intoxicates Mycobacterium tuberculosis. ( 28219662 )
2017
3
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer. ( 27541980 )
2016
4
Infantile metabolic encephalopathy due to fumarase deficiency. ( 22772160 )
2013
5
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
6
Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency. ( 23499446 )
2013
7
Fumarase deficiency in dichorionic diamniotic twins. ( 24182348 )
2013
8
Mild fumarase deficiency and a trial of low protein diet. ( 22595425 )
2012
9
Fumarase Deficiency Associated With Non-Inflammatory Biliary Atresia. ( 22922375 )
2012
10
Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency. ( 22069215 )
2012
11
Structural basis of fumarate hydratase deficiency. ( 21445611 )
2011
12
Clinical and biochemical heterogeneity associated with fumarase deficiency. ( 21560188 )
2011
13
Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis. ( 20978192 )
2010
14
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
15
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas. ( 19151755 )
2009
16
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. ( 18366737 )
2008
17
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling? ( 17418405 )
2007
18
Fumarate hydratase deficiency in monozygotic twins. ( 16876016 )
2006
19
Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1. ( 16575891 )
2006
20
Molecular and biochemical investigations in fumarase deficiency. ( 16510303 )
2006
21
Fumarase deficiency presenting with periventricular cysts. ( 16151915 )
2005
22
A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency. ( 15221078 )
2004
23
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. ( 12761039 )
2003
24
[Fumarase deficiency]. ( 12013993 )
2002
25
[Fumarase deficiency]. ( 11596337 )
2001
26
Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment. ( 10896297 )
2000
27
Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies. ( 11117439 )
2000
28
Fumarate hydratase deficiency. ( 9700607 )
1998
29
Molecular analysis and prenatal diagnosis of human fumarase deficiency. ( 9635293 )
1998
30
[Fumarase deficiency]. ( 9590067 )
1998
31
Congenital fumarase deficiency presenting with hypotonia and areflexia. ( 8734035 )
1996
32
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. ( 8200987 )
1994
33
Fumarate Hydratase Deficiency ( 20301679 )
1993
34
Variability of clinical presentation in fumarate hydratase deficiency. ( 1432428 )
1992
35
Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero. ( 1557269 )
1992
36
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. ( 2314594 )
1990
37
A fourth case of fumarase deficiency. ( 2515378 )
1989
38
Fumarase deficiency. ( 3807970 )
1987
39
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. ( 3736629 )
1986

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 30)
# 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
11.84 FOS HIF1A JUNB
5 11.66 FOS SRF
6 11.64 HIF1A VHL
7 11.62 FOS JUNB
8 11.6 FOS JUNB
9
Show member pathways
11.59 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
10.93 FOS JUNB
28
Show member pathways
10.91 FOS HIF1A
29 10.71 FOS SRF
30 10.5 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 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.84 FOS HIF1A JUNB SRF
2 positive regulation of transcription, DNA-templated GO:0045893 9.71 FOS HIF1A SRF VHL
3 cytokine-mediated signaling pathway GO:0019221 9.67 FOS HIF1A JUNB
4 regulation of transcription, DNA-templated GO:0006355 9.65 FOS HIF1A JUNB SRF VHL
5 transcription by RNA polymerase II GO:0006366 9.62 FOS HIF1A JUNB SRF
6 response to toxic substance GO:0009636 9.58 FOS SRF
7 cellular response to calcium ion GO:0071277 9.57 FOS JUNB
8 response to mechanical stimulus GO:0009612 9.56 FOS JUNB
9 heart looping GO:0001947 9.55 HIF1A SRF
10 cellular response to hormone stimulus GO:0032870 9.52 FOS JUNB
11 response to cAMP GO:0051591 9.51 FOS JUNB
12 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.48 HIF1A VHL
13 muscle cell cellular homeostasis GO:0046716 9.46 HIF1A SRF
14 mRNA transcription by RNA polymerase II GO:0042789 9.43 HIF1A SRF
15 trophectodermal cell differentiation GO:0001829 9.37 JUNB SRF
16 response to cytokine GO:0034097 9.33 FOS JUNB SRF
17 positive regulation of cell differentiation GO:0045597 9.13 JUNB SRF VHL
18 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 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.67 FOS HIF1A JUNB SRF
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.5 FOS JUNB SRF
3 DNA-binding transcription factor activity GO:0003700 9.46 FOS HIF1A JUNB SRF
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.26 HIF1A SRF
5 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.26 FOS HIF1A JUNB SRF
6 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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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