Fabry Disease malady

NIH Rare Diseases: Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells and affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.³⁰

MalaCards: Fabry Disease, also known as alpha-galactosidase a deficiency, is related to angiokeratoma and sphingolipidosis. An important gene associated with Fabry Disease is GLA (galactosidase, alpha), and among its related pathways are RAR-Gamma-RXR-Alpha Degradation and Glycosphingolipid biosynthesis - globo series. The drug agalsidase beta and the compounds glucose and ivig have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and kidney, and related mouse phenotypes are hematopoietic system and integument.

NINDS: Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.³¹

Genetics Home Reference: Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.¹⁷

Wikipedia: Fabry disease (also known as Fabry\'s disease, Anderson-Fabry disease, angiokeratoma corporis diffusum...⁴⁴ more...

OMIM: 301500

GeneReviews summary for fabry

Aliases & Descriptions:

fabry disease 6 7 44 15 30 17 31 8 33 32 43 alpha-galactosidase a deficiency 6 44 15 30 16 17 anderson-fabry disease 44 15 30 16 17 angiokeratoma corporis diffusum 6 44 30 17 gla deficiency 44 30 16 17 ceramide trihexosidase deficiency 44 30 17 hereditary dystopic lipidosis 44 30 17 fabry's disease (disorder) 6 16

angiokeratoma diffuse 44 17 alpha galactosidase deficiency 6 deficiency of melibiase 6 angiokeratoma, diffuse 30 fabry's disease 6 angiokeratoma 43 malnutrition 43

Diseases related to fabry disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 995)

id	Related Disease	Score	Top Affiliating Genes
1	angiokeratoma	31.6	NAGA, FUCA1, MANBA, GLA, CTSA
2	sphingolipidosis	31.6	ARSA, PSAP, ADPRH, GBA
3	fucosidosis	30.9	NAGA, FUCA1, GLA
4	schindler disease	29.5	NAGA, GLA
5	priapism	28.9	F5, GLA, NOS3
6	rickets	27.1	VDR, BGLAP, IL6, CRP
7	mucopolysaccharidosis vii	27.0	GUSB, GLA, M6PR
8	gangliosidosis gm1	27.0	ARSA, GLA, PSAP
9	metachromatic leukodystrophy	27.0	ARSA, GLA, PSAP
10	tay-sachs disease	26.9	ARSA, GLA, PSAP
11	hearing loss	26.9	SERPINC1, GUSB, IL1A, APOH, MANBA, F5
12	krabbe disease	26.9	CHIT1, ARSA, PSAP
13	cramps	26.6	IL10, IL1A, IL1B, GLA, TNF, NPY
14	factor xii deficiency	25.7	VWF, SERPINC1, APOH, F5
15	hypertrophic cardiomyopathy	25.7	VWF, IL6, GLA, TNF, NOS3, ACE
16	chronic obstructive pulmonary disease	25.5	MPO, IL6, TNF, CRP, NPPB
17	anorexia nervosa	25.4	BGLAP, IL1B, IL6, TNF, DDC, NOS3
18	x-linked sideroblastic anemia	25.3	IL1B, TNF, CRP
19	eating disorder	25.1	BGLAP, IL1B, DPP4, NPY
20	retinol binding protein	25.1	LCN2, TNF, CRP, ACE, CST3
21	agammaglobulinemia	25.0	BTK, IL6, GLA, TNF
22	immunodeficiency	24.9	BTK, IL10, IL6, APOH, TNF, DPP4
23	lupus nephritis	24.5	VWF, SELE, VCAM1, LCN2, IL10, IL6
24	obstructive jaundice	24.4	IL6, F5, TNF, CRP
25	arthritis	24.1	IL1A, IL1B, IL6, TNF
26	proteinuria	24.0	VWF, SERPINC1, VDR, VCAM1, UMOD, LCN2
27	alcoholic liver cirrhosis	23.7	IL1A, IL1B, IL6, ICAM1, TNF
28	diarrhea	23.4	VWF, MPO, GUSB, IL10, IL1B, IL6
29	nephritis	23.4	VWF, SELE, VCAM1, UMOD, LCN2, S100A8
30	crohn's disease	23.1	LCN2, MPO, IL10, IL1B, IL6, TNF
31	jaundice	22.9	GUSB, IL10, IL1B, IL6, F5, TNF
32	esophageal squamous cell carcinoma	22.3	SELE, S100A8, S100A9, IL10, IL6, ICAM1
33	cholera	22.3	ATP6V0A1, MPO, IL10, IL1A, IL1B, IL6
34	periodontitis	22.1	VDR, MPO, IL10, IL1A, IL1B, IL6
35	uremia	21.9	VWF, SERPINC1, VDR, VCAM1, IL10, IL1B
36	hyperhomocysteinemia	21.8	VWF, SELE, SERPINC1, VCAM1, IL1B, IL6
37	acute leukemia	21.4	VWF, SERPINC1, SERPINF2, MPO, IL1A, IL1B
38	nephropathy	21.3	VWF, SELE, NAGA, VDR, VCAM1, UMOD
39	celiac disease	21.1	SELE, VDR, BGLAP, IL10, IL1A, IL1B
40	peritonitis	21.0	VWF, SELE, SERPINC1, SERPINF2, VDR, VCAM1
41	twinning	21.0	VWF, BTK, SERPINC1, VDR, BGLAP, UMOD
42	hyperthyroidism	20.9	VWF, SELE, VDR, BGLAP, MPO, IL6
43	neuropathy	20.8	VWF, SELE, NAIP, MPO, ARSA, IL10
44	thrombosis	20.6	VWF, SELE, SERPINC1, SERPINF2, VCAM1, BGLAP
45	photosensitive trichothiodystrophy	20.1	VWF, BGLAP, MPO, IL10, IL1B, IL6
46	hypothyroidism	19.9	VWF, SELE, SERPINC1, VDR, BGLAP, FUCA1
47	sepsis	19.8	SELE, SERPINC1, SERPINF2, S100A8, MPO, IL10
48	liver cirrhosis	19.3	SELE, SERPINC1, SERPINF2, VCAM1, BGLAP, GUSB
49	osteoporosis	19.2	SELE, SERPINC1, VDR, BGLAP, IL10, IL1A
50	insulin resistance	19.0	VWF, SELE, NAGA, VDR, VCAM1, BGLAP

Clinical features from OMIM: 301500

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 agalsidase beta

Genetic tests related to fabry disease:

id	Genetic test	Affiliating Genes
1	Fabry Disease clinical/research	GLA

MalaCards organs/tissues related to fabry disease:

²²

MGI Mouse Phenotypes related to fabry disease:

²⁵ (show all 18)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	10.2	CTSA, MANBA, ARSA, LCN2, BTK
2	integument phenotype	MP:0010771	9.6	GBA, DBH, CTSA, F5, GUSB, BTK
3	endocrine/exocrine gland phenotype	MP:0005379	9.6	DBH, PSAP, DPP4, MANBA, GUSB
4	renal/urinary system phenotype	MP:0005367	9.5	PSAP, THBS1, NOS3, CTSA, CTH, DDC
5	skeleton phenotype	MP:0005390	9.2	GBA, PSAP, THBS1, M6PR, IL6, UMOD
6	liver/biliary system phenotype	MP:0005370	9.1	GBA, PSAP, NOS3, CTSA, CTH, GLA
7	digestive/alimentary phenotype	MP:0005381	9.1	NPY, PSAP, THBS1, NOS3, MANBA, VDR
8	nervous system phenotype	MP:0003631	8.6	DDC, DBH, CST3, NPY, GBA, F5
9	immune system phenotype	MP:0005387	8.2	CTSA, THBS1, PSAP, ADPRH, GBA, TNF
10	reproductive system phenotype	MP:0005389	8.1	PSAP, THBS1, TNF, M6PR, MANBA, IL6
11	muscle phenotype	MP:0005369	7.1	CST3, PSAP, THBS1, NOS3, CTH, TNF
12	growth/size phenotype	MP:0005378	7.0	NOS3, ACE, THBS1, DPP4, PSAP, DBH
13	tumorigenesis	MP:0002006	6.4	CST3, THBS1, ACE, TNF, ICAM1, IL6
14	behavior/neurological phenotype	MP:0005386	6.0	CTH, CTSA, NOS3, A4GALT, ACE, PSAP
15	cellular phenotype	MP:0005384	5.4	ICAM1, GLA, M6PR, TNF, DDC, CTH
16	homeostasis/metabolism phenotype	MP:0005376	4.9	GBA, ICAM1, M6PR, DDC, CTH, CTSA
17	mortality/aging	MP:0010768	3.4	CTH, DDC, TNF, M6PR, ICAM1, F5
18	cardiovascular system phenotype	MP:0005385	3.2	DDC, CTH, CTSA, CRP, NOS3, ACE

Articles related to fabry disease:

(show top 50)    (show all 176)

id	Title	Authors	Year	Affiliating Genes
1	Clinical and genetic investigation of a Japanese fami ly with cardiac fabry disease. Identification of a novel I+-galactosidase A miss ense mutation (G195V). (22008442)	Nakagawa N.... Hasebe N.	2011	GLA
2	Urinary total globotriaosylceramide and isoforms to i dentify women with Fabry disease: a diagnostic test study. (21186071)	Paschke E.... Kotanko P.	2011	A4GALT
3	Frequency of Fabry disease in male and female haemodi alysis patients in Spain. (20122163)	Gaspar P.... SA!-Miranda M.C.	2010	GLA
4	Frequency of Fabry disease in patients with small-fib re neuropathy of unknown aetiology: a pilot study. (20860754)	Tanislav C.... Blaes F.	2010	GLA
5	Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information. (20139917)	Saito S.... Sakuraba H.	2010	GLA
6	Functional studies of new GLA gene mutations leading to conformational Fabry disease. (19941952)	Filoni C.... Morrone A.	2010	GLA
7	Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G> ;A). (19621417)	Hwu W.L.... Hsu L.W.	2009	GLA
8	Expression of genes and their responses to enzyme rep lacement therapy in a Fabry disease mouse model. (19639234)	Park E.S.... Jung S.C.	2009	THBS1, NPY, LCN2
9	Correlation between interleukin-6 promoter and C-reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease. (18172744)	Altarescu G.... Elstein D.	2008	IL6, CRP
10	Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. (18424138)	Vedder A.C.... Hollak C.E.	2008	GLA
11	Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease. (18849176)	Erdos M.... Marodi L.	2008	GLA
12	Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease. (19707461)	Fervenza F.C.... Warnock D.G.	2008	GLA
13	Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke. (17509753)	Brouns R.... De Deyn P.P.	2007	GUSB
14	Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients. (17694354)	Lukacs Z.... Mengel E.	2007	GLA
15	Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature. (17263716)	Lidove O.... Papo T.	2007	GLA
16	Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options. (17610610)	MAPhrenschlager M.... Ring J.	2007	SERPINC1, F5
17	Fabry disease. An interdisciplinary challenge (17940933)	Cybulla M.... Neumann H.P.	2007	GLA
18	Effect of renin-angiotensin system in Fabry disease associated proteinuria (17397632)	PagA!n MuA+oz B.... Barbado HernA!ndez F.J.	2007	ACE, GLA
19	Azoospermia as a new feature of Fabry disease. (17261284)	Papaxanthos-Roche A.... Lacombe D.	2007	GLA
20	Two novel mutations of GLA gene in Chinese patients with Fabry disease (17582282)	An G.P.... Wang R.	2007	GLA
21	Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease. (16972173)	Jardim L.B.... Becker J.	2006	GLA
22	Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. (16531566)	Yam G.H.... Roth J.	2006	GLA
23	Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. (16533976)	Nance C.S.... Desnick R.J.	2006	GLA
24	Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. (16595074)	Shabbeer J.... Desnick R.J.	2006	GLA
25	Neurological manifestations of Fabry disease (17160925)	MendiA^roz M.... Montaner J.	2006	GLA
26	Measurement of renal function in patients with Fabry disease. (15895707)	Kleinert J.... Sunder-Plassmann G.	2005	CST3
27	Fabry disease--a diagnostic and therapeutic problem. (16350834)	StrujiA8 B.J.... Jeren T.	2005	GLA
28	Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. (16298216)	Rolfs A.... Benecke R.	2005	GLA
29	Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene. (15947062)	Garzuly F.... Budka H.	2005	GLA
30	Remarkable variability in renal disease in a large Slovenian family with Fabry disease. (15162124)	Verovnik F.... Linthorst G.E.	2004	GLA
31	Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA. (12471562)	Blom D.... Aerts J.M.	2003	GLA
32	High overexpression of the human alpha-galactosidase A gene driven by its promoter in transgenic mice: implications for the treatment of Fabry disease. (12033283)	Ashley G.A.... Gordon J.W.	2002	GLA
33	Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. (10916280)	Ashton-Prolla P.... Desnick R.J.	2000	GLA
34	Ventricular fibrillation refractory to automatic internal cardiac defibrillator in Fabry's disease. Review of cardiovascular manifestations. (11279328)	Eckart R.E.... Le T.D.	2000	GLA
35	Molecular genetic analysis of a Chinese patient with Fabry disease. (11775551)	Lam C.W.... Lai F.M.	2000	GLA
36	Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. (10208848)	Germain D.P.... Poenaru L.	1999	GLA
37	The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A. (10090526)	Beyer E.M.... Tsvetkova I.V.	1999	GLA
38	Identification of a novel point mutation (S65T) in alpha- galactosidase A gene in Chinese patients with Fabry disease. (9554750)	Chen C.-H.... Hsiao K.-J.	1998	GLA
39	A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease. (9452068)	Miyazaki T.... Seo H.	1998	GLA
40	Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status. (9106497)	Ledvinova J.... Elleder M.	1997	GLA
41	Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease. (8931708)	Germain D.P.... Poenaru L.	1996	GLA
42	Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha- galactosidase A gene. (8863162)	Redonnet-Vernhet I.... Levade T.	1996	GLA
43	Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry disease. (8996967)	Okumiya T.... Sakuraba H.	1996	GLA
44	Fabry disease (alpha-galactosidase deficiency) (8577042)	Okumiya T.... Sakuraba H.	1995	GLA
45	Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. (7911050)	Eng C.M.... Desnick R.J.	1994	GLA
46	Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. (7504405)	Eng C.M.... Desnick R.J.	1993	GLA
47	Mutation analysis in patients with the typical form of Anderson-Fabry disease. (8395937)	Davies J.P.... Malcolm S.	1993	GLA
48	Relationship of the multiple forms of human alpha-D-galactosidase and alpha-D-fucosidase in the normal and in Fabry's disease. (2160280)	Beyer E.... Wiederschain G.	1990	GLA, NAGA
49	Priapism associated with Fabry's disease (2127372)	Jaureguizar Monereo E.... LA^pez SantamarA-a M.	1990	GLA
50	Biochemical and clinical analysis of accumulated glycolipids in symptomatic heterozygotes of angiokeratoma corporis diffusum (Fabry's disease) in comparison with hemizygotes. (2157788)	Hozumi I.... Miyatake T.	1990	GLA

Genes related to fabry disease according to GeneCards:

(show all 50)

id	Symbol	Description	Score	GeneCards Section Context
1	GLA	galactosidase, alpha	11.1	UniProt Related, Summaries, Publications
2	NAGA	N-acetylgalactosaminidase, alpha-	11.0	Publications
3	M6PR	mannose-6-phosphate receptor (cation dependent)	11.0
4	FUCA1	fucosidase, alpha-L- 1, tissue	11.0
5	CHIT1	chitinase 1 (chitotriosidase)	11.0
6	ADPRH	ADP-ribosylarginine hydrolase	11.0	Publications
7	ARSA	arylsulfatase A	11.0
8	UGCG	UDP-glucose ceramide glucosyltransferase	11.0	Publications
9	GUSB	glucuronidase, beta	11.0	Publications
10	PSAP	prosaposin	11.0
11	GBA	glucosidase, beta, acid	11.0	Publications
12	BTK	Bruton agammaglobulinemia tyrosine kinase	11.0
13	DBH	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	11.0
14	PRKAG2	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	11.0
15	A4GALT	alpha 1,4-galactosyltransferase	11.0	Publications
16	GRINA	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	11.0
17	NAIP	NLR family, apoptosis inhibitory protein	11.0	Publications
18	ATP6V0A1	ATPase, H+ transporting, lysosomal V0 subunit a1	11.0	Publications
19	CTSA	cathepsin A	11.0
20	UMOD	uromodulin	11.0	Publications
21	LCN2	lipocalin 2	11.0	Publications
22	SERPINF2	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	11.0	Publications
23	S100A9	S100 calcium binding protein A9	11.0	Publications
24	CTH	cystathionase (cystathionine gamma-lyase)	11.0
25	MANBA	mannosidase, beta A, lysosomal	11.0
26	S100A8	S100 calcium binding protein A8	11.0	Publications
27	THBS1	thrombospondin 1	11.0	Publications
28	DDC	dopa decarboxylase (aromatic L-amino acid decarboxylase)	11.0	Publications
29	CST3	cystatin C	11.0	Publications
30	DPP4	dipeptidyl-peptidase 4	11.0	Publications
31	NOS3	nitric oxide synthase 3 (endothelial cell)	11.0	Publications
32	NPY	neuropeptide Y	11.0	Publications
33	APOH	apolipoprotein H (beta-2-glycoprotein I)	11.0	Publications
34	BGLAP	bone gamma-carboxyglutamate (gla) protein	11.0	Publications
35	SELE	selectin E	11.0	Publications
36	SERPINC1	serpin peptidase inhibitor, clade C (antithrombin), member 1	11.0	Publications
37	CRP	C-reactive protein, pentraxin-related	11.0	Publications
38	VWF	von Willebrand factor	11.0	Publications
39	VCAM1	vascular cell adhesion molecule 1	11.0	Publications
40	ICAM1	intercellular adhesion molecule 1	11.0	Publications
41	MPO	myeloperoxidase	11.0	Publications
42	IL1A	interleukin 1, alpha	11.0	Publications
43	VDR	vitamin D (1,25- dihydroxyvitamin D3) receptor	11.0	Publications
44	F5	coagulation factor V (proaccelerin, labile factor)	11.0	Publications
45	NPPB	natriuretic peptide B	11.0	Publications
46	TNF	tumor necrosis factor	11.0	Publications
47	ACE	angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	11.0	Publications
48	IL10	interleukin 10	11.0	Publications
49	IL1B	interleukin 1, beta	11.0	Publications
50	IL6	interleukin 6 (interferon, beta 2)	11.0	Publications

Pathways related to fabry disease according to GeneDecks:

(show all 36)

id	Pathway	Score	Top Affiliating Genes
1	RAR-Gamma-RXR-Alpha Degradation36	10.7	BTK
2	Glycosphingolipid biosynthesis - globo series20	10.5	A4GALT, GLA, NAGA
3	Graft-versus-host disease20	10.4	IL1A
4	Sphingolipid metabolism20	10.4	GBA, GLA, ARSA, UGCG
5	NFAT Signaling and Lymphocyte Interactions36	10.3	BTK, IL1A
6	Other glycan degradation20	10.2	GBA, MANBA, FUCA1
7	Selected targets of HNF110	10.0	DPP4, CRP, APOH, UMOD
8	IL-6 Pathway36	10.0	IL10, BTK
9	Lysosome20	9.8	NAGA, GBA, PSAP, CTSA, M6PR, GLA
10	Blood Coagulation Signaling Pathways37	9.8	F5, SERPINF2, SERPINC1, VWF
11	Complement and coagulation cascades20	9.4	F5, SERPINF2, SERPINC1, VWF
12	PGC1Alpha Pathway36	9.3	BTK, IL1A, IL1B
13	Immune response_MIF-mediated glucocorticoid regulation41	9.3	TNF, ICAM1, IL6, VCAM1
14	Immune response MIF-mediated glucocorticoid regulation10	9.3	TNF, ICAM1, IL6, VCAM1
15	LDL Oxidation in Atherogenesis36	8.7	TNF, ICAM1, IL1B, MPO, VCAM1
16	NOD-like receptor signaling pathway20	8.6	NAIP, IL1B, IL6, TNF
17	Immune response IL-1 signaling pathway10	8.6	IL1A, IL1B, IL6, TNF
18	Immune response_IL-1 signaling pathway41	8.5	TNF, IL6, IL1B, IL1A
19	Endothelin-1 Signaling Pathway36	8.4	IL6, IL1B, IL1A, IL10, BTK
20	Rheumatoid arthritis20	8.3	TNF, ICAM1, IL6, IL1B, IL1A, ATP6V0A1
21	Leishmaniasis20	8.3	IL10, IL1A, IL1B, TNF
22	Transcription_Role of VDR in regulation of genes involved in osteoporosis41	8.2	TNF, IL6, IL1B, IL1A, BGLAP, VDR
23	Transcription Role of VDR in regulation of genes involved in osteoporosis10	8.2	TNF, IL6, IL1B, IL1A, BGLAP, VDR
24	Cytokine Network36	8.1	TNF, IL6, IL1B, IL1A, IL10
25	IL-10 Pathway36	8.1	TNF, IL6, IL1B, IL1A, IL10
26	Pertussis20	8.1	TNF, IL6, IL1B, IL1A, IL10
27	MIF Mediated Glucocorticoid Regulation36	8.0	TNF, IL6, IL1B, IL1A, IL10, BTK
28	MIF Regulation of Innate Immune Cells36	8.0	TNF, IL6, IL1B, IL1A, IL10, BTK
29	all-trans-Retinoic Acid Signaling in Brain36	8.0	TNF, IL6, IL1B, IL1A, IL10, BTK
30	PEDF Induced Signaling36	7.9	TNF, IL6, IL1B, IL1A, IL10, GRINA
31	SOCS Pathway36	7.8	IL6, IL1B, IL1A, IL10, BTK
32	Chagas disease (American trypanosomiasis)20	7.8	IL10, IL1B, IL6, TNF, ACE
33	STAT3 Pathway36	7.8	TNF, IL6, IL1B, IL1A, IL10, BTK
34	African trypanosomiasis20	7.7	TNF, ICAM1, IL6, IL1B, IL10, VCAM1
35	Tuberculosis20	7.6	TNF, IL6, IL1B, IL1A, IL10, ATP6V0A1
36	Malaria20	7.5	THBS1, TNF, ICAM1, IL6, IL1B, IL10

Compounds related to fabry disease according to GeneDecks:

(show top 50)    (show all 287)

id	Compound	Score	Top Affiliating Genes
1	glucose32	10.4	FUCA1, GLA, UMOD, NAGA
2	ivig32	10.2	CRP, VWF, BTK
3	cyclophosphamide32 34 9 9	13.0	APOH, NPPB
4	mannose 6-phosphate32 18	10.8	ARSA, GBA, ADPRH, DPP4, CTSA, M6PR
5	endotoxin32	9.7	SERPINF2, S100A8, S100A9, APOH, F5, CRP
6	polyethylene glycol32	9.6	CST3, SELE, SERPINC1, ADPRH, MPO
7	pge232	9.5	NPPB, IL1A, VCAM1, SELE, DBH
8	heparin32 9 18 9	12.5	NPY, DPP4, UMOD, BGLAP, MPO, SERPINF2
9	aspartate32	9.4	VDR, GUSB, ARSA, F5, GLA, CST3
10	fluvastatin32 34 9 9	12.0	VCAM1, IL6, IL1A, VWF, NOS3
11	aprotinin32 9 9	11.0	VWF, NPPB, F5, IL1A, SERPINF2, SERPINC1
12	kininogen32	8.4	APOH, THBS1, CST3, VWF, MPO, SERPINC1
13	cysteine32	8.4	PSAP, S100A8, BTK, NAIP, BGLAP, UMOD
14	ulinastatin32	8.3	SERPINC1, MPO, GUSB, IL10, IL6, ICAM1
15	gabexate mesilate32	8.2	F5, SELE, CRP, SERPINC1, IL10, TNF
16	homocysteine32 18	9.1	VWF, SELE, SERPINC1, VCAM1, APOH, F5
17	dextran sulfate32	8.1	IL6, ICAM1, F5, MPO, SERPINC1, SELE
18	histamine32 18	9.1	MPO, GUSB, ICAM1, DDC, DBH, NPPB
19	folate32	8.0	SELE, CST3, VDR, SERPINC1, VWF, VCAM1
20	rosiglitazone32 9 18 9	11.0	THBS1, VCAM1, DPP4, NOS3, CRP, TNF
21	polysaccharide32	7.9	CHIT1, LCN2, FUCA1, ARSA, MANBA, F5
22	aspirin32 34 18	9.8	APOH, GUSB, VDR, SERPINC1, SELE, VWF
23	sb 20358032 42	8.8	BTK, SELE, VDR, VCAM1, BGLAP, IL6
24	arginine32	7.8	ADPRH, APOH, BGLAP, IL1A, F5, PSAP
25	testosterone32 9 18 9	10.7	F5, IL1A, BGLAP, VCAM1, SERPINF2, SERPINC1
26	infliximab32 9 9	9.4	IL6, BGLAP, CRP, TNF, IL10, IL1B
27	polymyxin b32	7.3	IL1A, IL1B, TNF, ICAM1, IL6, SELE
28	groalpha32	7.3	SELE, VCAM1, IL10, IL1A, IL6, ICAM1
29	neopterin32	7.3	CHIT1, LCN2, IL10, ICAM1, IL1B, CRP
30	calcium32 9 18 9	10.2	GUSB, NAIP, SERPINF2, BTK, VWF, BGLAP
31	8-isoprostane32	7.2	ICAM1, TNF, CRP, NOS3, NPPB, APOH
32	prednisolone32 9 9	9.1	TNF, CRP, NPPB, NPY, APOH, IL6
33	cholesterol32 9 18 9	10.0	M6PR, CRP, ACE, THBS1, DPP4, S100A8
34	fibrinogen32	6.9	VWF, BTK, SELE, SERPINC1, SERPINF2, VCAM1
35	simvastatin32 34 42 9 18 9	11.9	NOS3, CRP, TNF, ICAM1, VWF, SELE
36	methotrexate32 34 42 9 9	10.8	IL6, APOH, TNF, CRP, NOS3, DPP4
37	pentoxifylline32 9 9	8.8	NPPB, ICAM1, IL6, IL1B, TNF, IL1A
38	atorvastatin32 34 9 18 9	10.7	VWF, SELE, VCAM1, IL10, IL6, F5
39	alanine32	6.6	CRP, SELE, VWF, SERPINC1, SERPINF2, CTH
40	lipid32	6.5	SERPINF2, GBA, ACE, THBS1, DBH, CST3
41	creatinine32	6.5	GLA, CRP, ACE, DPP4, NPPB, NPY
42	lactate32	6.3	MPO, NPY, ADPRH, NPPB, CST3, GUSB
43	genistein32 9 18 9	9.3	VCAM1, SELE, NPPB, THBS1, NOS3, BTK
44	cyclosporin a32 42	7.1	IL10, IL1A, NPPB, VWF, UGCG, BGLAP
45	retinoic acid32 42 18	7.4	IL1A, MPO, IL6, F5, ICAM1, TNF
46	serine32	5.3	NPPB, CTSA, S100A8, VWF, BTK, SELE
47	dexamethasone32 42 34 9 9	9.3	VWF, S100A8, S100A9, TNF, BGLAP, SERPINC1
48	prostacyclin32	5.1	TNF, CRP, NOS3, ACE, THBS1, NPPB
49	vegf32	4.5	ICAM1, SELE, VWF, NOS3, THBS1, CST3
50	nitric oxide32 9 18 9	6.8	IL1A, NPPB, NPY, GBA, DBH, DPP4

Cellular components related to fabry disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	lysosomal lumen	GO:043202	10.0	GBA, PSAP, CTSA, GLA, ARSA, GUSB
2	lysosome	GO:005764	9.6	CTSA, GLA, MANBA, ARSA, MPO, FUCA1
3	platelet alpha granule lumen	GO:031093	9.5	THBS1, F5, SERPINF2, VWF
4	membrane raft	GO:045121	9.1	DPP4, TNF, UMOD, SELE, BTK
5	secretory granule	GO:030141	9.1	MPO, IL1B, THBS1, DBH
6	external side of plasma membrane	GO:009897	8.5	THBS1, ACE, TNF, ICAM1, VCAM1, VWF
7	extracellular region	GO:005576	6.0	CRP, THBS1, DPP4, PSAP, DBH, CST3
8	extracellular space	GO:005615	3.4	SELE, APOH, F5, ICAM1, TNF, CRP

Biological processes related to fabry disease according to GeneDecks:

(show all 34)

id	Name	GO ID	Score	Top Affiliating Genes
1	glycosphingolipid metabolic process	GO:006687	10.3	GBA, PSAP, CTSA, GLA, ARSA, UGCG
2	sphingolipid metabolic process	GO:006665	10.3	GBA, PSAP, CTSA, GLA, ARSA, UGCG
3	negative regulation of fibrinolysis	GO:051918	10.3	THBS1, APOH, SERPINF2
4	cellular response to alkaloid	GO:071312	10.2	DDC, ICAM1
5	phospholipid metabolic process	GO:006644	10.2	GBA, PSAP, CTSA, GLA, ARSA, UGCG
6	chronic inflammatory response	GO:002544	10.1	THBS1, S100A9, S100A8, VCAM1
7	cellular response to nicotine	GO:071316	10.1	DBH, TNF
8	response to copper ion	GO:046688	10.0	DBH, ICAM1, IL1A
9	leukocyte tethering or rolling	GO:050901	9.9	SELE, VCAM1, TNF
10	response to ethanol	GO:045471	9.9	NOS3, ICAM1, S100A9, S100A8, BGLAP
11	negative regulation of extracellular matrix disassembly	GO:010716	9.8	DPP4, CST3
12	platelet degranulation	GO:002576	9.8	PSAP, THBS1, F5, SERPINF2, VWF
13	negative regulation of lipid storage	GO:010888	9.6	IL6, TNF, CRP
14	response to ozone	GO:010193	9.6	DBH, IL1B, IL1A
15	negative regulation of interleukin-6 production	GO:032715	9.6	GBA, TNF, IL10
16	receptor biosynthetic process	GO:032800	9.5	TNF, IL10
17	small molecule metabolic process	GO:044281	9.4	GBA, PRKAG2, DBH, PSAP, NOS3, CTSA
18	positive regulation of calcidiol 1-monooxygenase activity	GO:060559	9.3	TNF, IL1B
19	fever generation	GO:001660	9.3	IL1A, IL1B
20	positive regulation of cytokine secretion	GO:050715	9.3	TNF, IL1A, IL10
21	sequestering of triglyceride	GO:030730	9.3	TNF, IL1B
22	platelet activation	GO:030168	9.2	VWF, SERPINF2, IL6, F5, THBS1, PSAP
23	chronic inflammatory response to antigenic stimulus	GO:002439	9.1	IL1B, TNF
24	positive regulation of JNK cascade	GO:046330	9.1	TNF, IL1B, IL1A, SERPINF2
25	positive regulation of angiogenesis	GO:045766	9.0	IL1A, IL1B, NOS3, THBS1
26	positive regulation of interleukin-6 production	GO:032755	8.7	TNF, IL6, IL1B, IL1A
27	positive regulation of NF-kappaB transcription factor activity	GO:051092	8.5	CTH, TNF, ICAM1, IL6, IL1B, BTK
28	response to drug	GO:042493	8.5	NPPB, THBS1, NOS3, TNF, ICAM1, IL10
29	positive regulation of sequence-specific DNA binding transcription factor activity	GO:051091	8.3	IL10, IL1B, IL6, TNF
30	response to glucocorticoid stimulus	GO:051384	8.2	TNF, IL6, IL1B, IL10, BGLAP
31	negative regulation of cell proliferation	GO:008285	7.9	NOS3, CTH, TNF, IL6, IL1B, IL1A
32	response to hypoxia	GO:001666	7.8	VCAM1, NPPB, DPP4, THBS1, NOS3, CRP
33	anti-apoptosis	GO:006916	7.7	THBS1, NOS3, CTH, TNF, IL1B, IL1A
34	inflammatory response	GO:006954	7.0	NPPB, CRP, TNF, IL6, IL1B, IL1A

Molecular functions related to fabry disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cation binding	GO:043169	10.0	NAGA, CHIT1, FUCA1, GUSB, MANBA, GLA
2	eukaryotic cell surface binding	GO:043499	9.7	SERPINF2, APOH, THBS1
3	integrin binding	GO:005178	9.4	THBS1, ICAM1, VCAM1, VWF
4	protease binding	GO:002020	9.4	CST3, DPP4, TNF, SERPINF2, SERPINC1
5	cytokine activity	GO:005125	7.7	IL6, IL1B, IL1A, IL10, TNF
6	protein binding	GO:005515	5.2	ICAM1, GLA, TNF, DDC, CTH, CRP