Aliases & Classifications for Fumarate Hydratase Deficiency

MalaCards integrated aliases for Fumarate Hydratase Deficiency:

Name: Fumarate Hydratase Deficiency 25 6
Fumarase Deficiency 25 70
Fumaric Aciduria 25 70

External Ids:

UMLS 70 C0342770 C2936826

Summaries for Fumarate Hydratase Deficiency

MalaCards based summary : Fumarate Hydratase Deficiency, also known as fumarase deficiency, is related to hereditary leiomyomatosis and renal cell cancer and leiomyomatosis, 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. The drug Axitinib has been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, skin and testis, 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

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 hereditary leiomyomatosis and renal cell cancer 30.8 HIF1A FH
2 leiomyomatosis 30.8 VHL FH
3 kidney cancer 30.1 VHL HIF1A FH
4 fumarase deficiency 11.5
5 tricarboxylic acid cycle, defect of 11.1
6 intravenous leiomyomatosis 10.5
7 tumor predisposition syndrome 10.4
8 cutaneous telangiectasia and cancer syndrome, familial 10.4
9 inherited cancer-predisposing syndrome 10.4
10 renal cell carcinoma, nonpapillary 10.3
11 leiomyoma, uterine 10.3
12 leiomyoma 10.3
13 hypotonia 10.3
14 microcephaly 10.2
15 hypoxia 10.2
16 autosomal recessive disease 10.2
17 dystonia 10.1
18 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
19 west syndrome 10.1
20 alcohol-related neurodevelopmental disorder 10.1
21 organic acidemia 10.1
22 scoliosis 10.1
23 status epilepticus 10.1
24 cerebral palsy 10.1
25 acute pancreatitis 10.1
26 cystic kidney disease 10.1
27 polymicrogyria 10.1
28 cerebral atrophy 10.1
29 encephalopathy 10.1
30 bilateral polymicrogyria 10.1
31 malt worker's lung 10.0 HIF1A FOS
32 retinal hemangioblastoma 10.0 VHL HIF1A
33 d-2-hydroxyglutaric aciduria 1 10.0 HIF1A FH
34 hemangioblastoma 10.0 VHL HIF1A
35 diabetic macular edema 10.0 HIF1A FH
36 acute mountain sickness 10.0 VHL HIF1A
37 hypertelorism 10.0
38 plethora of newborn 10.0
39 inherited metabolic disorder 10.0
40 colpocephaly 10.0
41 spastic paraparesis 10.0
42 primary polycythemia 10.0 VHL HIF1A
43 capillary hemangioma 10.0 VHL HIF1A
44 erythrocytosis, familial, 2 10.0 VHL HIF1A
45 familial isolated hypoparathyroidism 9.9 VHL HIF1A
46 polycystic liver disease 1 with or without kidney cysts 9.9
47 mycobacterium tuberculosis 1 9.9
48 metabolic acidosis 9.9
49 hydrocephalus 9.9
50 neutropenia 9.9

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 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.47 VHL
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.47 JUNB
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.47 JUNB
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-158 9.47 JUNB
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 9.47 JUNB VHL
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.47 HIF1A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-170 9.47 JUNB
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.47 JUNB
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.47 HIF1A JUNB
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-207 9.47 VHL
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.47 JUNB
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.47 HIF1A

MGI Mouse Phenotypes related to Fumarate Hydratase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 FH FOS HIF1A JUNB SRF VHL
2 homeostasis/metabolism MP:0005376 9.85 FH FOS HIF1A JUNB SRF VHL
3 embryo MP:0005380 9.8 FOS HIF1A JUNB SRF VHL
4 craniofacial MP:0005382 9.73 FOS HIF1A SRF VHL
5 mortality/aging MP:0010768 9.73 FH FOS HIF1A JUNB SRF VHL
6 limbs/digits/tail MP:0005371 9.62 FOS HIF1A JUNB VHL
7 neoplasm MP:0002006 9.46 FOS HIF1A JUNB VHL
8 renal/urinary system MP:0005367 9.26 FH HIF1A JUNB VHL
9 skeleton MP:0005390 9.02 FOS HIF1A JUNB SRF VHL

Drugs & Therapeutics for Fumarate Hydratase Deficiency

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Single-arm Phase II Clinical Trial to Evaluate the Initial Efficacy and Safety of Sintilimab Injection Combined With Inlyta in Fumarate Hydratase- Deficient Renal Cell Carcinoma Not yet recruiting NCT04387500 Phase 2 Sintilimab injection

Search 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:

40
Smooth Muscle, Skin, Testis

Publications for Fumarate Hydratase Deficiency

Articles related to Fumarate Hydratase Deficiency:

(show top 50) (show all 115)
# Title Authors PMID Year
1
Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency. 61 25 6
31746132 2020
2
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report. 6 25 61
28747166 2017
3
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. 25 6 61
23612258 2013
4
Mild fumarase deficiency and a trial of low protein diet. 61 25 6
22595425 2012
5
Clinical and biochemical heterogeneity associated with fumarase deficiency. 6 61 25
21560188 2011
6
Fumaric aciduria: an overview and the first Brazilian case report. 6 61 25
20549362 2010
7
Fumarate hydratase deficiency in monozygotic twins. 61 25 6
16876016 2006
8
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 6 25 61
11865300 2002
9
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma. 6 25
31444830 2020
10
Fumarase deficiency in dichorionic diamniotic twins. 6 25
24182348 2013
11
Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency. 6 25
22069215 2012
12
Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1. 6 25
16575891 2006
13
Fumarase deficiency presenting with periventricular cysts. 6 25
16151915 2005
14
A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency. 6 25
15221078 2004
15
Molecular analysis and prenatal diagnosis of human fumarase deficiency. 25 6
9635293 1998
16
Biochemical Characterization of Two Clinically-Relevant Human Fumarase Variants Defective for Oligomerization. 6 61
29456767 2018
17
Structural basis of fumarate hydratase deficiency. 61 6
21445611 2011
18
Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species. 6 61
19470762 2009
19
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. 6 61
12761039 2003
20
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. 61 6
2314594 1990
21
Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals. 6
31831373 2020
22
Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome. 6
32463173 2020
23
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. 6
30050099 2019
24
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet. 61 25
29052812 2018
25
Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers. 6
28300276 2017
26
Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC. 6
28266706 2017
27
Comprehensive genomic and phenotypic characterization of germline FH deletion in hereditary leiomyomatosis and renal cell carcinoma. 6
28196407 2017
28
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer. 6
27541980 2017
29
Isolated cutaneous leiomyosarcoma revealing a novel germline mutation of the fumarate hydratase gene. 6
25913776 2016
30
Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism. 6
27037871 2016
31
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. 6
26900816 2016
32
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings. 6
26574848 2016
33
Hereditary leiomyomatosis and renal cell cancer syndrome. 6
26323704 2016
34
Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient. 6
26173633 2016
35
Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients. 6
26457356 2015
36
Genetic testing of leiomyoma tissue in women younger than 30 years old might provide an effective screening approach for the hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC). 6
25985877 2015
37
Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer. 6
25923021 2015
38
An unusual case of sporadic hereditary leiomyomatosis and renal cell carcinoma syndrome. 6
25750977 2015
39
Hereditary leiomyomatosis associated with renal cell carcinoma. 6
25477250 2015
40
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. 6
26023681 2015
41
Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. 6
25292446 2014
42
Germline FH mutations presenting with pheochromocytoma. 6
25004247 2014
43
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. 6
24334767 2014
44
Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. 6
24441663 2014
45
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a rapid autopsy report of metastatic renal cell carcinoma. 6
24625422 2014
46
A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey. 25 61
26078636 2014
47
Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas. 6
24684806 2014
48
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids. 6
22764886 2013
49
Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome. 6
23211287 2013
50
No evidence for the role of somatic mutations and promoter hypermethylation of FH gene in the tumorigenesis of nonsyndromic uterine leiomyomas. 6
22528940 2012

Variations for Fumarate Hydratase Deficiency

ClinVar genetic disease variations for Fumarate Hydratase Deficiency:

6 (show top 50) (show all 669)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FH NM_000143.3(FH):c.793G>A (p.Ala265Thr) SNV Pathogenic 16230 rs387906545 GRCh37: 1:241669414-241669414
GRCh38: 1:241506114-241506114
2 FH NM_000143.3(FH):c.1084G>C (p.Glu362Gln) SNV Pathogenic 16231 rs121913119 GRCh37: 1:241667366-241667366
GRCh38: 1:241504066-241504066
3 FH FH, DEL Deletion Pathogenic 29706 GRCh37:
GRCh38:
4 FH NM_000143.3(FH):c.478A>G (p.Arg160Gly) SNV Pathogenic 237116 rs878853694 GRCh37: 1:241675344-241675344
GRCh38: 1:241512044-241512044
5 FH NM_000143.3(FH):c.267+1G>C SNV Pathogenic 237112 rs878853691 GRCh37: 1:241680481-241680481
GRCh38: 1:241517181-241517181
6 FH NC_000001.11:g.(?_241497557)_(241519785_?)del Deletion Pathogenic 417361 GRCh37: 1:241660857-241683085
GRCh38: 1:241497557-241519785
7 FH NM_000143.3(FH):c.1052C>A (p.Ser351Ter) SNV Pathogenic 405912 rs1060500896 GRCh37: 1:241667398-241667398
GRCh38: 1:241504098-241504098
8 FH NC_000001.11:g.(?_241497557)_(241504245_?)del Deletion Pathogenic 417362 GRCh37: 1:241660857-241667545
GRCh38: 1:241497557-241504245
9 FH NM_000143.3(FH):c.1347del (p.Met449fs) Deletion Pathogenic 405924 rs1060500903 GRCh37: 1:241663780-241663780
GRCh38: 1:241500480-241500480
10 FH NM_000143.3(FH):c.1391-1G>A SNV Pathogenic 405909 rs863223978 GRCh37: 1:241661271-241661271
GRCh38: 1:241497971-241497971
11 FH NM_000143.3(FH):c.40dup (p.Leu14fs) Duplication Pathogenic 405920 rs1060500900 GRCh37: 1:241682982-241682983
GRCh38: 1:241519682-241519683
12 FH NM_000143.3(FH):c.267+1G>A SNV Pathogenic 405927 rs878853691 GRCh37: 1:241680481-241680481
GRCh38: 1:241517181-241517181
13 FH NM_000143.3(FH):c.204T>A (p.Tyr68Ter) SNV Pathogenic 405883 rs1060500883 GRCh37: 1:241680545-241680545
GRCh38: 1:241517245-241517245
14 FH NM_000143.3(FH):c.679C>T (p.Gln227Ter) SNV Pathogenic 405913 rs11545658 GRCh37: 1:241671962-241671962
GRCh38: 1:241508662-241508662
15 FH NM_000143.3(FH):c.786_806del (p.Lys263_Ile269del) Deletion Pathogenic 185496 rs786202220 GRCh37: 1:241669401-241669421
GRCh38: 1:241506101-241506121
16 FH NM_000143.3(FH):c.1479_1483AGCAG[1] (p.Glu495fs) Microsatellite Pathogenic 405937 rs1060500907 GRCh37: 1:241661173-241661177
GRCh38: 1:241497873-241497877
17 FH NM_000143.3(FH):c.560C>A (p.Ser187Ter) SNV Pathogenic 405935 rs398123166 GRCh37: 1:241672081-241672081
GRCh38: 1:241508781-241508781
18 FH NM_000143.3(FH):c.1112del (p.Lys371fs) Deletion Pathogenic 405928 rs1060500904 GRCh37: 1:241665867-241665867
GRCh38: 1:241502567-241502567
19 FH NM_000143.3(FH):c.583A>G (p.Met195Val) SNV Pathogenic 460368 rs1553341364 GRCh37: 1:241672058-241672058
GRCh38: 1:241508758-241508758
20 FH NM_000143.3(FH):c.634C>T (p.Gln212Ter) SNV Pathogenic 460367 rs1553341353 GRCh37: 1:241672007-241672007
GRCh38: 1:241508707-241508707
21 FH NM_000143.3(FH):c.1251dup (p.His418fs) Duplication Pathogenic 460337 rs1553340708 GRCh37: 1:241663875-241663876
GRCh38: 1:241500575-241500576
22 FH NM_000143.3(FH):c.760C>T (p.Gln254Ter) SNV Pathogenic 92457 rs398123167 GRCh37: 1:241669447-241669447
GRCh38: 1:241506147-241506147
23 FH NC_000001.11:g.(?_241505997)_(241506174_?)del Deletion Pathogenic 460334 GRCh37:
GRCh38: 1:241505997-241506174
24 FH NM_000143.3(FH):c.379-1G>A SNV Pathogenic 460352 rs1553341623 GRCh37: 1:241675444-241675444
GRCh38: 1:241512144-241512144
25 FH NM_000143.3(FH):c.6C>G (p.Tyr2Ter) SNV Pathogenic 460375 rs199971078 GRCh37: 1:241683017-241683017
GRCh38: 1:241519717-241519717
26 FH NM_000143.3(FH):c.439A>G (p.Thr147Ala) SNV Pathogenic 214395 rs863223983 GRCh37: 1:241675383-241675383
GRCh38: 1:241512083-241512083
27 FH NM_000143.3(FH):c.999C>A (p.Cys333Ter) SNV Pathogenic 529804 rs1553341031 GRCh37: 1:241667451-241667451
GRCh38: 1:241504151-241504151
28 FH NM_000143.3(FH):c.560C>G (p.Ser187Ter) SNV Pathogenic 92456 rs398123166 GRCh37: 1:241672081-241672081
GRCh38: 1:241508781-241508781
29 FH NM_000143.3(FH):c.991dup (p.Thr331fs) Duplication Pathogenic 529808 rs1553341034 GRCh37: 1:241667458-241667459
GRCh38: 1:241504158-241504159
30 FH NM_000143.3(FH):c.1028del (p.Arg343fs) Deletion Pathogenic 529809 rs1553341026 GRCh37: 1:241667422-241667422
GRCh38: 1:241504122-241504122
31 FH NM_000143.3(FH):c.1082del (p.Asn361fs) Deletion Pathogenic 529815 rs1553341012 GRCh37: 1:241667368-241667368
GRCh38: 1:241504068-241504068
32 FH NM_000143.3(FH):c.919del (p.Thr307fs) Deletion Pathogenic 529816 rs1553341049 GRCh37: 1:241667531-241667531
GRCh38: 1:241504231-241504231
33 FH NM_000143.3(FH):c.1236+1G>A SNV Pathogenic 529817 rs1131691249 GRCh37: 1:241665742-241665742
GRCh38: 1:241502442-241502442
34 FH NM_000143.3(FH):c.568_569del (p.Thr190fs) Deletion Pathogenic 529823 rs1553341367 GRCh37: 1:241672072-241672073
GRCh38: 1:241508772-241508773
35 FH NM_000143.3(FH):c.1138dup (p.Met380fs) Duplication Pathogenic 393579 rs781466938 GRCh37: 1:241665840-241665841
GRCh38: 1:241502540-241502541
36 FH NM_000143.3(FH):c.301_319del (p.Arg101fs) Deletion Pathogenic 569195 rs1558401094 GRCh37: 1:241676962-241676980
GRCh38: 1:241513662-241513680
37 FH NM_000143.3(FH):c.1041del (p.Gly348fs) Deletion Pathogenic 393576 rs1060499641 GRCh37: 1:241667409-241667409
GRCh38: 1:241504109-241504109
38 FH NM_000143.3(FH):c.1138del (p.Ala379_Met380insTer) Deletion Pathogenic 572058 rs781466938 GRCh37: 1:241665841-241665841
GRCh38: 1:241502541-241502541
39 FH NM_000143.3(FH):c.1052C>G (p.Ser351Ter) SNV Pathogenic 429168 rs1060500896 GRCh37: 1:241667398-241667398
GRCh38: 1:241504098-241504098
40 FH NM_000143.3(FH):c.65T>A (p.Leu22Ter) SNV Pathogenic 573460 rs1031919395 GRCh37: 1:241682958-241682958
GRCh38: 1:241519658-241519658
41 FH NM_000143.3(FH):c.739G>T (p.Glu247Ter) SNV Pathogenic 429182 rs1131691243 GRCh37: 1:241669468-241669468
GRCh38: 1:241506168-241506168
42 FH NM_000143.3(FH):c.322C>T (p.Gln108Ter) SNV Pathogenic 393560 rs1060499630 GRCh37: 1:241676959-241676959
GRCh38: 1:241513659-241513659
43 FH NM_000143.3(FH):c.1351G>T (p.Glu451Ter) SNV Pathogenic 575998 rs1558396320 GRCh37: 1:241663776-241663776
GRCh38: 1:241500476-241500476
44 FH NM_000143.3(FH):c.353del (p.Asn118fs) Deletion Pathogenic 576345 rs1558401064 GRCh37: 1:241676928-241676928
GRCh38: 1:241513628-241513628
45 FH NM_000143.3(FH):c.201T>G (p.Tyr67Ter) SNV Pathogenic 576558 rs1558402241 GRCh37: 1:241680548-241680548
GRCh38: 1:241517248-241517248
46 FH NM_000143.3(FH):c.442C>T (p.Gln148Ter) SNV Pathogenic 578830 rs1558400571 GRCh37: 1:241675380-241675380
GRCh38: 1:241512080-241512080
47 FH NM_000143.3(FH):c.1205del (p.His402fs) Deletion Pathogenic 578880 rs1558397011 GRCh37: 1:241665774-241665774
GRCh38: 1:241502474-241502474
48 FH NM_000143.3(FH):c.174_177dup (p.Leu60Ter) Duplication Pathogenic 429185 rs1131691246 GRCh37: 1:241680571-241680572
GRCh38: 1:241517271-241517272
49 FH NM_000143.3(FH):c.185_188dup (p.Asn64fs) Duplication Pathogenic 583198 rs1558402255 GRCh37: 1:241680560-241680561
GRCh38: 1:241517260-241517261
50 FH NC_000001.11:g.(?_241505993)_(241506178_?)del Deletion Pathogenic 583507 GRCh37: 1:241669293-241669478
GRCh38: 1:241505993-241506178

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 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 VHL SRF JUNB HIF1A FOS
2
Show member pathways
12.6 JUNB HIF1A FOS
3 12.28 VHL HIF1A FOS FH
4
Show member pathways
11.86 JUNB HIF1A FOS
5 11.66 SRF FOS
6 11.63 JUNB FOS
7 11.61 JUNB FOS
8
Show member pathways
11.6 VHL HIF1A
9
Show member pathways
11.56 JUNB FOS
10
Show member pathways
11.55 JUNB FOS
11 11.52 JUNB FOS
12
Show member pathways
11.5 JUNB FOS
13
Show member pathways
11.49 JUNB FOS
14
Show member pathways
11.48 VHL HIF1A FOS FH
15
Show member pathways
11.45 HIF1A FOS
16 11.41 HIF1A FOS
17 11.39 JUNB HIF1A FOS
18
Show member pathways
11.38 JUNB FOS
19 11.32 JUNB FOS
20 11.31 VHL HIF1A
21 11.27 JUNB FOS
22
Show member pathways
11.27 SRF FOS
23 11.19 JUNB FOS
24 11.18 SRF JUNB FOS
25 11.15 SRF FOS
26 11.01 SRF FOS
27
Show member pathways
10.97 SRF FOS
28
Show member pathways
10.96 JUNB FOS
29 10.95 JUNB FOS
30
Show member pathways
10.91 HIF1A FOS
31 10.75 SRF FOS
32 10.5 VHL HIF1A

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 chromatin GO:0000785 9.46 SRF JUNB HIF1A FOS
2 transcription factor complex GO:0005667 9.13 JUNB HIF1A FOS
3 transcription factor AP-1 complex GO:0035976 8.62 JUNB FOS

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.73 SRF JUNB HIF1A FOS
2 positive regulation of transcription, DNA-templated GO:0045893 9.62 VHL SRF HIF1A FOS
3 cytokine-mediated signaling pathway GO:0019221 9.58 JUNB HIF1A FOS
4 regulation of transcription, DNA-templated GO:0006355 9.55 VHL SRF JUNB HIF1A FOS
5 response to toxic substance GO:0009636 9.52 SRF FOS
6 cellular response to calcium ion GO:0071277 9.51 JUNB FOS
7 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.49 VHL HIF1A
8 heart looping GO:0001947 9.48 SRF HIF1A
9 response to cytokine GO:0034097 9.46 SRF FOS
10 muscle cell cellular homeostasis GO:0046716 9.37 SRF HIF1A
11 trophectodermal cell differentiation GO:0001829 9.26 SRF JUNB
12 positive regulation of cell differentiation GO:0045597 9.13 VHL SRF JUNB
13 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 8.8 SRF HIF1A FOS

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 9.62 SRF JUNB HIF1A FOS
2 sequence-specific double-stranded DNA binding GO:1990837 9.58 SRF JUNB FOS
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 SRF JUNB HIF1A FOS
4 sequence-specific DNA binding GO:0043565 9.54 SRF HIF1A FOS
5 DNA-binding transcription factor activity GO:0003700 9.46 SRF JUNB HIF1A FOS
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.26 SRF JUNB HIF1A FOS
7 transcription factor binding GO:0008134 9.02 VHL SRF JUNB HIF1A FOS

Sources for Fumarate Hydratase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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