Exophthalmos malady

Wikipedia: Exophthalmos (also called exophthalmia or proptosis) is a bulging of the eye anteriorly out of the...⁴⁴ more...

MalaCards: Exophthalmos is related to cockayne syndrome and posterior urethral valves. An important gene associated with Exophthalmos is FIG4 (FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)), and among its related pathways are Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and ACE Inhibitor Pathway, Pharmacodynamics. The compounds toremifene and benazepril have been mentioned in the context of this disorder. Related mouse phenotypes are tumorigenesis and adipose tissue.

exophthalmos 8 43

Diseases related to exophthalmos by text searches and GeneDecks gene sharing:

(show top 50)    (show all 53)

id	Related Disease	Score	Top Affiliating Genes
1	cockayne syndrome	13.0	ASXL1, FGFR2
2	posterior urethral valves	12.8	TGFB1, ACE
3	eisenmenger syndrome	12.8	ACE, TGFB1
4	urinary tract obstruction	12.8	ACE, TGFB1
5	isolated acth deficiency	12.7	PRL, PITX1
6	normal pressure hydrocephalus	12.7	TGFB1, ACE
7	acth deficiency	12.7	PITX1, PRL
8	pituitary hypoplasia	12.5	PITX1, PRL
9	fibromuscular dysplasia	12.5	ACE, PITX1, NF1
10	oculopharyngeal muscular dystrophy	12.4	PABPN1, EIF6
11	pemphigus	12.4	EIF6, ACE, TGFB1
12	androgenetic alopecia	12.3	TGFB1, PRL
13	borderline personality disorder	12.3	FLNA, PRL
14	female breast cancer	12.1	FGFR2, TGFB1, PRL
15	obstructive lung disease	12.0	PRL, TGFB1, ACE
16	breast cyst	12.0	ACE, TGFB1, PRL
17	systemic scleroderma	12.0	ACE, TGFB1, PRL
18	end stage renal failure	12.0	ACE, TGFB1, PRL
19	acquired immunodeficiency syndrome	12.0	PRL, TGFB1, FGFR2
20	headache	11.9	PRL, TGFB1, ACE
21	hemochromatosis	11.9	ACE, TGFB1, PRL
22	urticaria	11.8	PRL, TGFB1, ACE
23	congestive heart failure	11.7	PRL, TGFB1, ACE, PITX1
24	sinusitis	11.7	PRL, TGFB1, ACE, FIG4
25	connective tissue disease	11.6	ACE, TGFB1, PRL
26	thrombosis	11.6	FIG4, ACE, TGFB1, PRL
27	purpura	11.5	PRL, TGFB1, ACE, FGFR2
28	spontaneous abortion	11.5	PRL, TGFB1, ACE
29	conjunctivitis	11.5	FGFR2, ACE, TGFB1, PRL
30	muscular dystrophy	11.5	TGFB1, ACE, EIF6, PITX1, FLNA, PABPN1
31	hematopoiesis	11.4	PRL, TGFB1, ACE, ASXL1
32	colon carcinoma	11.2	TGFB1, ACE, EIF6, NF1, FGFR2
33	neuropathy	10.8	TGFB1, ACE, NF1, APPL1, FGFR2, FIG4
34	hydrocephalus	10.6	PRL, TGFB1, ACE, NF1, FGFR2, FLNA
35	twinning	10.5	PRL, TGFB1, ACE, NF1, FGFR2, PABPN1
36	cervicitis	10.5	PRL, TGFB1, ACE, FGFR2, FLNA, ASXL1
37	cerebritis	10.2	PRL, TGFB1, ACE, NF1, APPL1, FGFR2
38	colorectal cancer	10.0	PRL, TGFB1, ACE, EIF6, PITX1, NF1
39	lung carcinoma	9.9	PRL, TGFB1, ACE, EIF6, PITX1, NF1
40	neuronitis	9.2	PRL, TGFB1, ACE, PITX1, NF1, APPL1
41	pulsating exophthalmos	7.2
42	thyrotoxic exophthalmos	7.2
43	constant exophthalmos	6.9
44	endocrine exophthalmos	6.9
45	intermittent proptosis	6.9
46	lateral displacement of eye	6.3
47	raine syndrome	6.3
48	graves' disease	5.4
49	microcephaly, corpus callosum dysgenesis and cleft lip-palate	5.4
50	prolactinoma	5.4

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to exophthalmos:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	tumorigenesis	MP:0002006	8.4	PRL, ACE, NF1
2	adipose tissue phenotype	MP:0005375	8.1	FGFR2, TGFB1, ACE, EIF6, PITX1
3	craniofacial phenotype	MP:0005382	8.0	TGFB1, PITX1, NF1, FGFR2, FLNA, FIG4
4	endocrine/exocrine gland phenotype	MP:0005379	7.2	PRL, ACE, NF1, PITX1, FGFR2, TGFB1
5	liver/biliary system phenotype	MP:0005370	7.0	FLNA, TGFB1, ACE, EIF6, NF1, FGFR2
6	hematopoietic system phenotype	MP:0005397	6.9	APPL1, TGFB1, ASXL1, FLNA, FIG4, FGFR2
7	growth/size phenotype	MP:0005378	6.5	FLNA, FIG4, FGFR2, NF1, PITX1, EIF6
8	immune system phenotype	MP:0005387	6.4	FGFR2, FIG4, FLNA, ASXL1, APPL1, NF1

Articles related to exophthalmos:

id	Title	Authors	Year	Affiliating Genes
1	Bilateral exophthalmos: Report of a case and review o f a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome. (20163525)	Quintero-Rivera F.... Martinez-Agosto J.A.	2010	FGFR2
2	A giant prolactinoma presenting with unilateral exophthalmos: effect of cabergoline and review of the literature. (10908167)	Berwaerts J.... Mahler C.	2000	PRL
3	Endoscopic diagnosis of sarcoidosis in a patient presenting with bilateral exophthalmos and pansinusitis. (10979497)	Damrose E.J.... Abemayor E.	2000	ACE

Genes related to exophthalmos according to GeneCards:

(show all 14)

id	Symbol	Description	Score	GeneCards Section Context
1	FIG4	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	11.0
2	ARHGAP11B	Rho GTPase activating protein 11B	11.0	Disorders
3	GPHB5	glycoprotein hormone beta 5	11.0	Disorders
4	PITX1	paired-like homeodomain 1	11.0
5	APPL1	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	11.0
6	EIF6	eukaryotic translation initiation factor 6	11.0
7	ASXL1	additional sex combs like 1 (Drosophila)	11.0
8	FLNA	filamin A, alpha	11.0
9	PABPN1	poly(A) binding protein, nuclear 1	11.0
10	FGFR2	fibroblast growth factor receptor 2	11.0	Publications
11	PRL	prolactin	11.0	Publications
12	NF1	neurofibromin 1	11.0
13	ACE	angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	11.0	Publications
14	TGFB1	transforming growth factor, beta 1	11.0

Pathways related to exophthalmos according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics34	9.1	ACE, TGFB1
2	ACE Inhibitor Pathway, Pharmacodynamics34	8.8	ACE, TGFB1
3	MAPK signaling pathway20	8.4	FLNA, FGFR2, NF1, TGFB1

Compounds related to exophthalmos according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	toremifene32 9 9	11.4	TGFB1, PRL
2	benazepril32 9 9	11.2	ACE, TGFB1
3	ramipril32 9 9	11.1	ACE, TGFB1
4	cytochalasin d32 42	9.9	FLNA, TGFB1, NF1
5	perindopril32 34 9 9	11.8	ACE, TGFB1

Biological processes related to exophthalmos according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	digestive tract development	GO:048565	9.5	FGFR2, TGFB1
2	negative regulation of neuroblast proliferation	GO:007406	9.0	NF1, TGFB1
3	mononuclear cell proliferation	GO:032943	9.0	ACE, TGFB1

Molecular functions related to exophthalmos according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:005515	6.1	PABPN1, ACE, EIF6, NF1, APPL1, FGFR2