MCID: FMR011
MIFTS: 41

Fumarate Hydratase Deficiency malady

Category: Genetic diseases (common)

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:



External Ids:

UMLS65 C0342770, C2936826

Summaries for Fumarate Hydratase Deficiency

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MalaCards based summary: Fumarate Hydratase Deficiency, also known as fumarase deficiency, is related to renal cell carcinoma and fumarase deficiency, and has symptoms including seizures An important gene associated with Fumarate Hydratase Deficiency is FH (Fumarate Hydratase), and among its related pathways are Development_Leptin signaling via JAK/STAT and MAPK cascades and Transcription Ligand-dependent activation of the ESR1/SP pathway. Affiliated tissues include lung, liver and thyroid, and related mouse phenotypes are craniofacial and renal/urinary system.

GeneReviews summary for NBK1506

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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UMLS symptoms related to Fumarate Hydratase Deficiency:


seizures

Drugs & Therapeutics for Fumarate Hydratase Deficiency

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Drugs for Fumarate Hydratase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PaclitaxelapprovedPhase 1262133069-62-436314
Synonyms:
(2AR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha r*,betas*),11alpha,12alpha,12balpha))-beta-(benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester
12-benzoate, 9-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
157069-30-2
33069-62-4
5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
7,11-Methano-1H-cyclodeca[3,4]benz[1,2-b]oxete, benzenepropanoic acid deriv.
7,11-Methano-5H-cyclodeca[3,4]benz[1,2-b]oxete,benzenepropanoic acid deriv.
7-Epi-Paclitaxel
7-Epi-Taxol
7-Epipaclitaxel
7-Epitaxol
7-epi-Paclitaxel
7-epi-Taxol
AB00513812
ABI 007
ABI-007
ABI007
AC-675
AC1L1IOG
AC1L1VJI
AC1L9AVF
ACon1_002231
ANX-513
Abraxane
Abraxane (TN)
Abraxane I.V. Suspension
Abraxis BioScience brand of albumin-bound paclitaxel
Ambotz33069-62-4
Anzatax
Asotax
BIDD:PXR0046
BMS 181339-01
BMS-181339
BMS-181339-01
BPBio1_000320
BRD-A23723433-001-01-2
BRD-A28746609-001-04-0
BRD-K62008436-001-03-1
BSPBio_000290
BSPBio_001152
BSPBio_002614
Bio-0076
Bio1_000362
Bio1_000851
Bio1_001340
Bio2_000416
Bio2_000896
Bristaxol
C07394
C466458
C47H51NO14
CCRIS 8143
CHEBI:103439
CHEBI:45863
CHEMBL100910
CHEMBL418410
CHEMBL48
CID36314
CID441276
CID4666
CID6713921
CID6915727
CPD-8718
Capxol
D00491
DB01229
DHP-107
DHP-208
DRG-0190
DTS-301
DivK1c_000441
EU-0101201
Ebetaxel
EmPAC
Epitaxol
Genaxol
Genetaxyl
Genexol
Genexol-PM
HMS1362J13
HMS1568O12
HMS1792J13
HMS1922K08
HMS1990J13
HMS2090D07
HMS2093K15
HMS501G03
HSDB 6839
I06-0014
IDI1_000441
IDI1_002171
Intaxel
KBio1_000441
KBio2_000492
KBio2_002016
KBio2_002509
KBio2_003060
KBio2_004584
KBio2_005077
KBio2_005628
KBio2_007152
KBio2_007645
KBio3_000903
KBio3_000904
KBio3_001834
KBio3_002987
KBioGR_000492
KBioGR_001893
 
KBioGR_002509
KBioSS_000492
KBioSS_002016
KBioSS_002517
LMPR0104390001
LS-31070
LipoPac
Lopac0_001201
MBT 0206
MEGxp0_001940
MLS000863266
MLS001077297
MLS002154218
MLS002172439
MLS002695976
MPI-5018
Micellar Paclitaxel
Mitotax
MolPort-001-742-627
MolPort-003-665-783
MolPort-003-932-365
NCGC00024995-02
NCGC00024995-03
NCGC00024995-04
NCGC00024995-05
NCGC00024995-06
NCGC00024995-07
NCGC00164367-01
NCGC00164367-02
NCGC00164367-03
NCI60_000601
NINDS_000441
NK 105
NP-010981
NSC 125973
NSC-125973
NSC125973
NSC358882
Nanotaxel
Neuro_000060
Nova-12005
OAS-PAC-100
OncoGel
Onxal
Onxol
Onxol, Taxol, Nov-Onxol, Paclitaxel
P1632
Paclical
Pacligel
Paclitaxel
Paclitaxel (JAN/USP)
Paclitaxel (JAN/USP/INN)
Paclitaxel (Taxol)
Paclitaxel [USAN:INN:BAN]
Paxceed
Paxene
Paxoral
Plaxicel
Praxel
Prestwick0_000155
Prestwick1_000155
Prestwick2_000155
Prestwick3_000155
Probes2_000350
QW 8184
S-8184 Paclitaxel Injectable Emulsion
S1150_Selleck
SDCCGMLS-0066823.P001
SDP-013
SMP1_000228
SMR000394086
SMR000857385
SPBio_000943
SPBio_002229
SPECTRUM1503908
ST50306996
Spectrum2_000872
Spectrum3_001057
Spectrum4_001197
Spectrum5_001491
Spectrum_001536
T 7402
T1912_SIGMA
T7191_SIGMA
T7402_SIGMA
TA1
TAXOL (TN)
TAXOL, 10-EPI,
TXL
TaxAlbin
Taxol
Taxol A
Taxol Konzentrat
Taxol.RTM. (Registered Trademark)
UNII-P88XT4IS4D
UPCMLD-DP108:001
UPCMLD-DP108:002
Vascular Wrap
Xorane
Yewtaxan
abi-007
albumin-bound paclitaxel
cMAP_000068
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel
2
Sirolimusapproved, investigationalPhase 1179753123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
3
EverolimusapprovedPhase 11797159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
Afinitor Disperz
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
VOTUBIA
Zortress
everolimus
4
Docetaxelapproved, investigational, Approved May 1996Phase 11844114977-28-5148124, 9877265
Synonyms:
(2aR,4S,4aS,6R,9S,11S,12S,12aR,12bS)-12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca[3,4]benz[1,2-b]oxet-9-yl (aR,bS)-b-[[(1,1-dimethylethoxy)carbonyl]amino]-a-hydroxybenzenepropanoate
(2alpha,5beta,7beta,10beta,13alpha)-4-(acetyloxy)-13-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7,10-trihydroxy-9-oxo-5,20-epoxytax-11-en-2-yl benzoate
01885_FLUKA
114977-28-5
4-(Acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
4-(acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
AC-383
AC1L3WHJ
ANX-514
BIND-014
C11231
CHEBI:4672
CHEMBL92
CID148124
D07866
DB01248
Docefrez
Docetaxel
Docetaxel (INN)
Docetaxel anhydrous
Docetaxel, Trihydrate
EmDOC
 
HMS2089K08
InChI=1/C43H53NO14/c1-22-26(55-37(51)32(48)30(24-15-11-9-12-16-24)44-38(52)58-39(3,4)5)20-43(53)35(56-36(50)25-17-13-10-14-18-25)33-41(8,34(49)31(47)29(22)40(43,6)7)27(46)19-28-42(33,21-54-28)57-23(2)45/h9-18,26-28,30-33,35,46-48,53H,19-21H2,1-8H3,(H,44,5
MolPort-003-847-005
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-Boc-10-deacetyl taxol
NSC-628503
PSMA-targeted docetaxel nanoparticle
RP-56976
SDP-014
TXL
Taxotere
Taxotere (TN)
Taxotere(R)
XRP-6976L
docetaxel
docetaxel 114977-28-5
nchembio.188-comp8
nchembio.2007.34-comp7
nchembio.573-comp11
nchembio853-comp8
5Immunosuppressive AgentsPhase 110422
6Albumin-Bound PaclitaxelPhase 12621
7Immunologic FactorsPhase 118483
8glutamineNutraceuticalPhase 1144

Interventional clinical trials:

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

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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
Lung, Liver, Thyroid, Prostate, Neutrophil, Endothelial, Testes

Animal Models for Fumarate Hydratase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Fumarate Hydratase Deficiency:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7FOS, HIF1A, SRF, VHL
2MP:00053678.5FH, HIF1A, JUNB, VHL
3MP:00020068.5FOS, HIF1A, JUNB, VHL
4MP:00053718.5FOS, HIF1A, JUNB, VHL
5MP:00053877.7FOS, HIF1A, JUNB, SRF, VHL
6MP:00053977.6FOS, HIF1A, JUNB, SRF, VHL
7MP:00053907.6FOS, HIF1A, JUNB, SRF, VHL
8MP:00053847.5FH, FOS, HIF1A, JUNB, SRF, VHL
9MP:00053767.5FH, FOS, HIF1A, JUNB, SRF, VHL
10MP:00107687.4FH, FOS, HIF1A, JUNB, SRF, VHL

Publications for Fumarate Hydratase Deficiency

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Articles related to Fumarate Hydratase Deficiency:

(show all 20)
idTitleAuthorsYear
1
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. (26900816)
2016
2
Fumarate Hydratase-deficient Cell Line NCCFH1 as a New In Vitro Model of Hereditary Papillary Renal Cell Carcinoma Type 2. (26637880)
2015
3
Molecular pathways: Fumarate hydratase-deficient kidney cancer--targeting the Warburg effect in cancer. (23633457)
2013
4
Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency. (23499446)
2013
5
A novel fumarate hydratase-deficient HLRCC kidney cancer cell line, UOK268: a model of the Warburg effect in cancer. (22867999)
2012
6
The glycolytic shift in fumarate-hydratase-deficient kidney cancer lowers AMPK levels, increases anabolic propensities and lowers cellular iron levels. (21907923)
2011
7
Structural basis of fumarate hydratase deficiency. (21445611)
2011
8
Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism. (20660115)
2010
9
Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis. (20978192)
2010
10
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
11
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas. (19151755)
2009
12
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
13
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling? (17418405)
2007
14
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids. (16319128)
2006
15
Fumarate hydratase deficiency in monozygotic twins. (16876016)
2006
16
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. (12761039)
2003
17
Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies. (11117439)
2000
18
Fumarate hydratase deficiency. (9700607)
1998
19
Fumarate Hydratase Deficiency (20301679)
1993
20
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.698G> A (p.Arg233His)single nucleotide variantPathogenicrs121913123GRCh37Chr 1, 241671943: 241671943

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 22)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5FOS, HIF1A
2
Show member pathways
9.5FOS, HIF1A
39.5FOS, HIF1A
4
Show member pathways
9.4FOS, SRF
59.4FOS, SRF
69.4FOS, SRF
79.4FOS, SRF
8
Show member pathways
9.4FOS, SRF
9
Show member pathways
9.4HIF1A, VHL
109.4HIF1A, VHL
119.4HIF1A, VHL
129.1FOS, JUNB
139.1FOS, JUNB
14
Show member pathways
9.1FOS, JUNB
159.1FOS, JUNB
169.1FOS, JUNB
17
Show member pathways
9.1FOS, JUNB
189.1FOS, JUNB
199.1FOS, JUNB
208.5FH, FOS, HIF1A, VHL
21
Show member pathways
8.5FH, FOS, HIF1A, VHL
22
Show member pathways
7.5FOS, HIF1A, JUNB, SRF, VHL

GO Terms for genes affiliated with Fumarate Hydratase Deficiency

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.2HIF1A, SRF
2mRNA transcription from RNA polymerase II promoterGO:004278910.1HIF1A, SRF
3response to cytokineGO:003409710.0FOS, SRF
4muscle cell cellular homeostasisGO:004671610.0HIF1A, SRF
5heart loopingGO:00019479.9HIF1A, SRF
6cellular response to glucose stimulusGO:00713339.8HIF1A, SRF
7trophectodermal cell differentiationGO:00018299.7JUNB, SRF
8response to light stimulusGO:00094169.7FOS, JUNB
9positive regulation of cell differentiationGO:00455979.5JUNB, SRF
10response to cAMPGO:00515919.5FOS, JUNB
11cellular response to calcium ionGO:00712779.5FOS, JUNB
12response to corticosteroneGO:00514129.4FOS, JUNB
13cellular response to hypoxiaGO:00714569.4HIF1A, VHL
14positive regulation of transcription, DNA-templatedGO:00458939.2HIF1A, SRF, VHL
15response to mechanical stimulusGO:00096129.2FOS, HIF1A, JUNB
16response to toxic substanceGO:00096369.1FOS, SRF
17transcription from RNA polymerase II promoterGO:00063668.8FOS, JUNB, SRF
18response to drugGO:00424938.7FOS, HIF1A, JUNB
19regulation of transcription, DNA-templatedGO:00063557.6FOS, HIF1A, JUNB, SRF, VHL

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

idNameGO IDScoreTop Affiliating Genes
1protein dimerization activityGO:00469839.2HIF1A, SRF
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.7HIF1A, JUNB, SRF

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