Strabismus malady

Wikipedia: Strabismus (/strəˈbɪzməs/; Modern Latin, from Greek στραβισμός strabismos; cf....⁴⁴ more...

MalaCards: Strabismus is related to congenital fibrosis of the extraocular muscles and fibrosis of extraocular muscles. An important gene associated with Strabismus is STBMS1 (Strabismus, susceptibility to, 1), and among its related pathways are Basal cell carcinoma and Human Embryonic Stem Cell Pluripotency. The drugs botulinum toxin type a and botulinum toxin type b and the compounds pd 161570 and dhica have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are pigmentation and renal/urinary system.

Aliases & Descriptions:

strabismus 6 16 32 43

Disease types for strabismus family:

strabismus 1

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

(show top 50)    (show all 100)

id	Related Disease	Score	Top Affiliating Genes
1	congenital fibrosis of the extraocular muscles	29.1	KIF21A, PHOX2A
2	fibrosis of extraocular muscles	27.5	PHOX2A, KIF21A, TUBB3
3	hypodontia	27.2	FGFR2, DSPP, FGFR3
4	synostosis	27.1	BMP4, FGFR2, FGFR3
5	cleft palate	25.8	COL9A1, COL2A1, FGFR2, BMP4, COL11A1, DSPP
6	oculocutaneous albinism	25.7	TYR, TYRP1, GPR143
7	thanatophoric dysplasia	13.7	FGFR2, FGFR3
8	crouzonodermoskeletal syndrome	13.7	FGFR2, FGFR3
9	beare-stevenson cutis gyrata syndrome	13.6	FGFR2, FGFR3
10	fgfr-related craniosynostosis syndromes	13.6	FGFR2, FGFR3
11	jackson-weiss syndrome	13.6	FGFR3, FGFR2
12	osteoglophonic dysplasia	13.6	FGFR2, FGFR3
13	muenke syndrome	13.5	FGFR2, FGFR3
14	acanthosis nigricans	13.5	FGFR2, FGFR3, PDLIM1
15	congenital fibrosis of the extraocular muscles 2	13.5	KIF21A, PHOX2A
16	x-linked mental retardation with epilepsy	13.4	OPHN1, PHOX2A
17	astigmatism	13.4	KIF21A, FGFR3, GPR143, FRMD7
18	fibrosis of extraocular muscles, congenital, 3	13.4	KIF21A, TUBB3
19	chst3-related skeletal dysplasia	13.3	COL2A1, FGFR2, FGFR3
20	stickler syndrome type 1	13.3	COL2A1, COL11A1
21	brachydactyly	13.2	VANGL2, FGFR3, COL2A1, TBX15
22	motor neuro-ophthalmic disorders	13.2	NKD1, PRICKLE2, NKD2, FZD6
23	vitreous syneresis	13.2	COL11A1, COL2A1
24	stickler syndrome	13.1	COL2A1, COL9A1, COL11A1
25	pierre robin sequence	13.1	COL2A1, COL11A1, COL9A1
26	macroglossia	13.1	COL2A1, COL11A1, COL9A1
27	dwarfism	13.1	COL2A1, TBX15, FGFR3, FGFR2
28	cerebellar hypoplasia	13.1	LAMB2, OPHN1, VLDLR
29	epiphyseal dysplasia	13.1	COL2A1, COL11A1, COL9A1
30	wagner syndrome	13.1	COL11A1, COL2A1
31	multiple epiphyseal dysplasia	13.1	COL11A1, COL2A1, COL9A1
32	marshall syndrome	13.1	COL11A1, COL2A1
33	vitreoretinal dystrophy	13.1	COL11A1, COL2A1
34	amblyopia	13.0	SOBP, CHN1, KIF21A, PHOX2A, TUBB3
35	achondroplasia	13.0	COL2A1, FGFR2, FGFR3
36	snowflake vitreoretinal degeneration	13.0	COL11A1, COL2A1
37	retinal detachment	13.0	COL11A1, COL9A1, RS1, COL2A1
38	chorioretinitis	13.0	COL11A1, COL9A1, COL2A1
39	chondrodysplasia	12.9	COL2A1, COL9A1, COL11A1, GPR143, FGFR2, FGFR3
40	hyperpigmentation of eyelid	12.8	TYRP1, TYR, FGFR3
41	neural tube defect	12.8	VANGL1, VANGL2, BMP4, FZD3, FZD6, TUBB3
42	developmental disabilities	12.8	FGFR2, FGFR3, HNF4A, TYR
43	x-linked infantile nystagmus	12.8	FRMD7, GPR143, TYR, TYRP1
44	ocular albinism	12.7	TYRP1, GPR143, FRMD7, TYR
45	albinism	12.6	FRMD7, SOBP, GPR143, TYRP1, TYR
46	ophthalmoplegia	12.5	SIL1, PIK3C2A, KIF21A, LAMB2, TUBB3, PHOX2A
47	vitreoretinopathy	12.5	COL11A1, FZD6, TYRP1, COL2A1
48	nystagmus	12.2	TYRP1, SIL1, RS1, GPR143, FRMD7, TYR
49	cataract	12.2	SIL1, FGFR2, TYRP1, COL9A1, COL2A1, COL11A1
50	short stature	12.2	VLDLR, FGFR3, TBX15, COL2A1, SIL1, COL9A1

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 botulinum toxin type a, botulinum toxin type b, demecarium, demecarium bromide, isoflurophate

Genetic tests related to strabismus:

id	Genetic test	Affiliating Genes
1	Strabismus clinical/research

MalaCards organs/tissues related to strabismus:

²²

MGI Mouse Phenotypes related to strabismus:

²⁵ (show all 16)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	8.6	TYRP1, TYR, RS1, TBX15, GPR143, FGFR2
2	renal/urinary system phenotype	MP:0005367	8.0	TYR, COL2A1, HTR3A, MCOLN1, FGFR3, FGFR2
3	respiratory system phenotype	MP:0005388	7.4	FGFR2, FGFR3, TUBB3, COL11A1, COL2A1, PHOX2A
4	craniofacial phenotype	MP:0005382	7.3	NKD2, NKD1, DSPP, TYRP1, COL2A1, COL11A1
5	hearing/vestibular/ear phenotype	MP:0005377	7.1	TBX15, COL11A1, COL2A1, COL9A1, TYRP1, TSHR
6	digestive/alimentary phenotype	MP:0005381	6.9	GAST, NKD1, COL2A1, COL11A1, MCOLN1, FGFR3
7	skeleton phenotype	MP:0005390	6.9	COL2A1, COL9A1, TYR, TYRP1, NKD1, NKD2
8	embryogenesis phenotype	MP:0005380	6.8	FGFR2, HNF4A, TBX15, COL2A1, TYR, PRICKLE1
9	limbs/digits/tail phenotype	MP:0005371	6.8	FGFR3, TBX15, COL11A1, COL2A1, COL9A1, TYR
10	reproductive system phenotype	MP:0005389	6.7	HTR3A, TBX15, TYR, TYRP1, TSHR, NKD1
11	vision/eye phenotype	MP:0005391	6.5	MCOLN1, GPR143, TBX15, RS1, COL2A1, COL9A1
12	homeostasis/metabolism phenotype	MP:0005376	5.6	CASQ2, HNF4A, COL9A1, PHOX2A, ACOT11, TYR
13	growth/size phenotype	MP:0005378	5.3	MCOLN1, HTR3A, HNF4A, TBX15, COL2A1, PHOX2A
14	behavior/neurological phenotype	MP:0005386	4.8	SIL1, FGFR3, FGFR2, FZD3, CELSR1, CELSR3
15	nervous system phenotype	MP:0003631	4.2	SIL1, OPHN1, PRICKLE1, FZD6, FZD3, CELSR1
16	mortality/aging	MP:0010768	3.5	PHOX2A, COL2A1, COL11A1, TBX15, TUBB3, HNF4A

Articles related to strabismus:

(show all 17)

id	Title	Authors	Year	Affiliating Genes
1	Expansion of the CHN1 strabismus phenotype. (21715346)	Miyake N.... Engle E.C.	2011	CHN1
2	Mutations in KIF21A and PHOX2A are absent in 16 patie nts with congenital vertical incomitant strabismus. (19852579)	Khan A.O.... Al-Tassan N.A.	2009	KIF21A, PHOX2A
3	Myogenic growth factors can decrease extraocular muscle force generation: a potential biological approach to the treatment of strabismus. (18172096)	Anderson B.C.... McLoon L.K.	2008	BMP4
4	Strabismus in unicoronal synostosis: ipsilateral or contralateral? (17538304)	Macintosh C.... Leach C.	2007	FGFR3, FGFR2
5	Identification and developmental expression pattern of van gogh-like 1, a second zebrafish strabismus homologue. (15053985)	Jessen J.R.... Solnica-Krezel L.	2004	VANGL1
6	Prickle and Strabismus form a functional complex to generate a correct axis during planar cell polarity signaling. (12941693)	Jenny A.... Mlodzik M.	2003	PRICKLE1
7	Molecular cloning and characterization of Strabismus 2 (STB2). (11956595)	Katoh M.	2002	HNF4A, CASQ2, VANGL1
8	Structure and expression of Strabismus 1 gene on human chromosome 1q21-q23. (12011999)	Katoh M.	2002	VANGL1, VANGL2
9	Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail. (11431695)	Kibar Z.... Gros P.	2001	VANGL2
10	Ramosetron compared with granisetron for the prevention of vomiting following strabismus surgery in children. (11371485)	Fujii Y.... Ito M.	2001	HTR3A
11	Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. (9683611)	Wang S.M.... Engle E.C.	1998	PHOX2A
12	Strabismus and Williams-Beuren syndrome. Presentation of 3 operated cases (8766044)	de Ancos E.... Klainguti G.	1996	PDLIM1
13	Granisetron reduces vomiting after strabismus surgery and tonsillectomy in children. (8665632)	Fujii Y.... Toyooka H.	1996	HTR3A
14	Strabismus in Williams syndrome. (7503839)	Kapp M.E.... Jenkins R.	1995	PDLIM1
15	Creatine kinase in strabismus surgery (7643561)	GraA8ek M.... GraA8ek S.	1995	PIK3C2A
16	Palmoplantar epidermal atrophy with hypokeratosis, d ys- and hypotrichosis, hypodontia, enamel and dentin hypoplasia, isolated cleft palate with cleft uvula, strabismus cryptorchism and other anomalies--an undes cribed ecto-mesodermal dysplasia? (1677642)	Salamon T.... Dojcinov D.	1991	DSPP
17	Serum gastrin and blood glucose levels during halothane-nitrous oxide anaesthesia and strabismus surgery in children. (1989738)	Blanc V.F.... Jacob J.L.	1991	GAST

Genes related to strabismus according to GeneCards:

(show all 48)

id	Symbol	Description	Score	GeneCards Section Context
1	STBMS1	Strabismus, susceptibility to, 1	11.1	Aliases & Descriptions
2	VANGL2	vang-like 2 (van gogh, Drosophila)	11.0	Publications, Domains & Families, Aliases & Descriptions, Orthologs
3	VANGL1	vang-like 1 (van gogh, Drosophila)	11.0	Domains & Families, Orthologs, Publications, Aliases & Descriptions
4	SOBP	sine oculis binding protein homolog (Drosophila)	11.0
5	GPR143	G protein-coupled receptor 143	11.0
6	MCOLN1	mucolipin 1	11.0
7	PDLIM1	PDZ and LIM domain 1	11.0	Publications
8	OPHN1	oligophrenin 1	11.0
9	FGFR3	fibroblast growth factor receptor 3	11.0	Publications
10	TSHR	thyroid stimulating hormone receptor	11.0	Disorders
11	HNF4A	hepatocyte nuclear factor 4, alpha	11.0	Publications
12	FGFR2	fibroblast growth factor receptor 2	11.0	Publications
13	PHOX2A	paired-like homeobox 2a	11.0	Publications
14	AP4M1	adaptor-related protein complex 4, mu 1 subunit	11.0
15	PPAP2C	phosphatidic acid phosphatase type 2C	11.0
16	LAMB2	laminin, beta 2 (laminin S)	11.0
17	RS1	retinoschisin 1	11.0
18	FRMD7	FERM domain containing 7	11.0
19	CELSR3	cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila)	11.0
20	TYRP1	tyrosinase-related protein 1	11.0
21	WNT11	wingless-type MMTV integration site family, member 11	11.0
22	NKD2	naked cuticle homolog 2 (Drosophila)	11.0
23	FZD6	frizzled family receptor 6	11.0
24	CASQ2	calsequestrin 2 (cardiac muscle)	11.0	Publications
25	CELSR2	cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila)	11.0
26	VLDLR	very low density lipoprotein receptor	11.0
27	COL9A1	collagen, type IX, alpha 1	11.0
28	TUBB3	tubulin, beta 3 class III	11.0
29	TBX15	T-box 15	11.0
30	FZD3	frizzled family receptor 3	11.0
31	ACOT11	acyl-CoA thioesterase 11	11.0
32	PRICKLE1	prickle homolog 1 (Drosophila)	11.0	Publications
33	NKD1	naked cuticle homolog 1 (Drosophila)	11.0
34	COL2A1	collagen, type II, alpha 1	11.0
35	CHN1	chimerin (chimaerin) 1	11.0	Publications
36	KIF21A	kinesin family member 21A	11.0	Publications
37	PRICKLE2	prickle homolog 2 (Drosophila)	11.0
38	BMP4	bone morphogenetic protein 4	11.0	Publications
39	SIL1	SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)	11.0
40	SCRIB	scribbled homolog (Drosophila)	11.0
41	PIK3C2A	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	11.0	Publications
42	COL11A1	collagen, type XI, alpha 1	11.0
43	HTR3A	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	11.0	Publications
44	DSPP	dentin sialophosphoprotein	11.0	Publications
45	CELSR1	cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)	11.0
46	TYR	tyrosinase (oculocutaneous albinism IA)	11.0
47	GAST	gastrin	11.0	Publications
48	RB1	retinoblastoma 1	11.0

Pathways related to strabismus according to GeneDecks:

(show all 16)

id	Pathway	Score	Top Affiliating Genes
1	Basal cell carcinoma20	9.8	WNT11, FZD6, FZD3, BMP4
2	Human Embryonic Stem Cell Pluripotency36	9.8	WNT11, HNF4A, FGFR2, FZD6, FZD3, BMP4
3	Nanog in Mammalian ESC Pluripotency36	9.7	WNT11, FGFR3, FGFR2, FZD6, FZD3, BMP4
4	GSK3 Signaling36	9.5	WNT11, FGFR3, FGFR2, FZD6, FZD3, BMP4
5	Inhibition of Angiogenesis by TSP136	9.5	COL9A1, COL2A1, COL11A1, LAMB2
6	Melanogenesis20	9.5	WNT11, TYRP1, TYR, FZD6, FZD3
7	Reelin Pathway (Cajal-Retzius cells)36	9.4	KIF21A, VLDLR, FZD3, FZD6
8	Factors Promoting Cardiogenesis in Vertebrates36	9.4	WNT11, HNF4A, FZD6, FZD3, BMP4, RB1
9	PTEN Pathway36	9.3	COL9A1, COL2A1, COL11A1, FGFR3, FGFR2, LAMB2
10	Wnt signaling pathway20	9.3	VANGL1, WNT11, NKD2, NKD1, PRICKLE1, PRICKLE2
11	ILK Signaling36	9.2	COL9A1, COL2A1, COL11A1, HNF4A, FGFR3, FGFR2
12	MAPK Signaling36	9.2	COL9A1, COL2A1, COL11A1, HNF4A, FGFR3, FGFR2
13	Phospholipase-C Pathway36	9.2	COL9A1, COL2A1, COL11A1, FGFR3, FGFR2, LAMB2
14	Pathways in cancer20	9.1	WNT11, FGFR3, FGFR2, FZD6, FZD3, LAMB2
15	Rho Family GTPases36	9.1	COL2A1, COL11A1, FGFR3, FGFR2, LAMB2, BMP4
16	Molecular Mechanisms of Cancer36	8.3	COL9A1, COL2A1, COL11A1, TUBB3, FGFR3, FGFR2

Compounds related to strabismus according to GeneDecks:

(show all 18)

id	Compound	Score	Top Affiliating Genes
1	pd 16157042	10.0	FGFR3, FGFR2
2	dhica32	9.9	TYRP1, TYR
3	arbutin32	9.9	TYRP1, TYR
4	kojic acid32	9.9	TYRP1, TYR
5	4-chlorophenol32	9.7	DSPP, TYR
6	hmba32	9.1	RB1, TYR, TYRP1
7	oligonucleotide32	8.8	TSHR, TYRP1, COL2A1, COL11A1, HNF4A, FGFR3
8	bromodeoxyuridine32	8.8	GAST, TUBB3, FGFR2, BMP4, RB1
9	doxorubicin32 34 9 9	11.7	PIK3C2A, RB1, FGFR2, FGFR3, HNF4A, TYR
10	vitamin d32	8.2	GAST, DSPP, TYR, COL2A1, HNF4A, FGFR2
11	ascorbic acid32 18	8.9	GAST, DSPP, TYR, COL2A1, BMP4, PIK3C2A
12	cysteine32	7.9	DSPP, TSHR, TYRP1, TYR, COL2A1, HNF4A
13	glutamate32	7.6	GAST, DSPP, TSHR, TYR, TUBB3, HNF4A
14	cisplatin32 34 9 9	10.6	GAST, TYR, TUBB3, HTR3A, FGFR2, RB1
15	dexamethasone32 42 34 9 9	11.2	GAST, DSPP, TYR, COL2A1, HNF4A, HTR3A
16	tyrosine32	7.0	PHOX2A, TYR, TYRP1, TSHR, WNT11, GAST
17	serine32	6.9	GAST, DSPP, TSHR, TYRP1, TYR, COL2A1
18	calcium32 9 18 9	9.5	PIK3C2A, TUBB3, COL2A1, PDLIM1, TYRP1, TSHR

Cellular components related to strabismus according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	lateral plasma membrane	GO:016328	10.0	VANGL2, PRICKLE2, NKD2
2	melanosome membrane	GO:033162	9.3	GPR143, TYR, TYRP1

Biological processes related to strabismus according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	cloacal septation	GO:060197	10.2	BMP4, WNT11
2	bud elongation involved in lung branching	GO:060449	10.2	BMP4, FGFR2
3	hair follicle development	GO:001942	10.1	VANGL2, FZD3, FZD6
4	endochondral ossification	GO:001958	10.0	COL2A1, FGFR3, BMP4
5	membranous septum morphogenesis	GO:003149	10.0	FGFR2, VANGL2
6	chondrocyte differentiation	GO:002062	9.9	COL9A1, COL2A1, FGFR3, BMP4
7	negative regulation of canonical Wnt receptor signaling pathway	GO:090090	9.8	WNT11, NKD2, NKD1, PRICKLE1, FZD6
8	eye pigment biosynthetic process	GO:006726	9.7	TYR, GPR143
9	neural tube closure	GO:001843	9.3	VANGL2, BMP4, SCRIB, CELSR1, PRICKLE1
10	visual perception	GO:007601	9.1	LAMB2, GPR143, RS1, COL11A1, COL2A1, TYR
11	G-protein coupled receptor signaling pathway	GO:007186	8.7	GAST, TSHR, GPR143, CELSR1, CELSR3, CELSR2

Molecular functions related to strabismus according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	calcium ion binding	GO:005509	8.5	VLDLR, CELSR2, CELSR3, CELSR1, CASQ2, DSPP