Disease relevance of VANGL2

• STB1 is moderately expressed in K-562 (leukemia), G-361 (melanoma), and MKN7 (gastric cancer) cells [1].
• To understand the underlying binding mechanism, binding behaviors of phage particles harboring the STB1 (a high-frequency heptapeptide exhibiting dual binding affinity to both metal oxides) were investigated in a wide pH range using quartz crystal microbalance with energy dissipation measurement (QCM-D) [2].
• On the other hand, STB1 mRNA was almost undetectable in several human cancer cell lines, and was down-regulated in 4 out of 14 cases of primary kidney tumors, and in 2 out of 3 cases of primary lung cancer [3].
• STB1 mRNA was moderately expressed in K-562 (chronic myelogenous leukemia), G-361 (melanoma), and MKN7 (gastric cancer) [3].
• Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve [4].

Psychiatry related information on VANGL2

• The role of ocular muscle proprioception in the localization of visual targets has been investigated in normal humans by deviating one eye to create an experimental strabismus [5].
• Yet they all showed mild mental retardation, hypotonia, cerebellar hypoplasia, and strabismus [6].
• In this study, we investigated how brief periods of ocular misalignment (strabismus) at the height of the critical period alter the cortical circuits that support binocular vision [7].
• Dissociations found between the presence and severity of strabismus, stereopsis, amblyopia and optokinetic abnormalities point to these features being relatively independent although associated in typical clusterings [8].
• PURPOSE: The authors showed earlier that animals reared with certain types of visual sensory deprivation during their first few months of life develop large horizontal strabismus, A/V patterns, and dissociated vertical deviation (DVD) [9].

High impact information on VANGL2

• Mucolipidosis type IV (MLIV) is an autosomal recessive, neurodegenerative, lysosomal storage disorder characterized by psychomotor retardation and ophthalmological abnormalities including corneal opacities, retinal degeneration and strabismus [10].
• X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus [11].
• Because patients with the Prader-Willi syndrome may also have hypopigmentation and strabismus, we wondered whether they too might have misrouting of optic fibers [12].
• We therefore studied six patients with Prader-Willi syndrome selected for a history of strabismus, using pattern-onset visually evoked potentials with binocular and monocular stimulation to look for evidence of misrouted retinal-ganglion fibers [12].
• Current concepts in ophthalmology. Strabismus [13].

Chemical compound and disease context of VANGL2

• A double-blinded comparison of metoclopramide and droperidol for prevention of emesis following strabismus surgery [14].
• Therefore, in a randomized, prospective, placebo-controlled study, the authors tested whether an inspired oxygen fraction of 0.8 decreases PONV in patients undergoing strabismus surgery and whether oxygen is more effective than ondansetron [15].
• Effect of propofol on the incidence of postoperative vomiting after strabismus surgery in pediatric outpatients [16].
• OBJECTIVE: To evaluate the efficacy of oral granisetron for the prevention of postoperative vomiting in children undergoing strabismus surgery [17].
• Ketorolac versus acetaminophen or ibuprofen in controlling postoperative pain in patients with strabismus [18].

Biological context of VANGL2

• Based on functional aspects and human chromosomal loci, STB1 gene and STB2 gene are predicted to be potent tumor suppressor gene candidates [1].
• STB1 and STB2 genes are located around cancer susceptibility loci or recombination hot spots in the human genome [1].
• Structure and expression of Strabismus 1 gene on human chromosome 1q21-q23 [3].
• A strabismus susceptibility locus on chromosome 7p [19].
• Ocular misalignment, or strabismus, falls into the category of MPAs, but this phenotype has not been assessed in schizophrenia [20].

Anatomical context of VANGL2

• On the other hand, STB1 and STB2 are significantly down-regulated in several cancer cell lines and primary tumors [1].
• In adult brain, STB1 mRNA was more highly expressed in cerebellum, corpus callosum, amygdala, and medulla oblongata [3].
• STB1 mRNA was relatively highly expressed in prostate, trachea, thymus, lymph node, placenta, fetal kidney, fetal brain, and fetal lung [3].
• Other features include large facial bones and mandibles, large protruding upper lip, enlarged fingers and toes, strabismus, and enlarged phallus [21].
• Reduced pigmentation during eye development results in misrouting of the optic nerves, nystagmus, alternating strabismus, and reduced visual acuity [22].

Associations of VANGL2 with chemical compounds

• LPP1 also controls PDGF-induced phosphatidate formation [23].
• Effect of droperidol pretreatment on postanesthetic vomiting in children undergoing strabismus surgery [24].
• CONCLUSIONS: Low-dose ondansetron plus dexamethasone is an effective prophylactic antiemetic combination for children undergoing strabismus surgery [25].
• The use of propofol and mivacurium anesthetic technique for the immediate postoperative adjustment of sutures in strabismus surgery [26].
• INTERVENTION: Topical dexamethasone (0.1%) was administered to children undergoing bilateral strabismus surgery [27].

Physical interactions of VANGL2

• Further, this report demonstrates that the membrane protein Vangl2 binds selectively to specific PDZ domains in Scrib [28].
• Congenital fibrosis of the extraocular muscles type 2 (CFEOM2) is a complex strabismus syndrome that results from mutations in the homeodomain transcription factor PHOX2A [29].

Regulatory relationships of VANGL2

• Therefore these three more relevant acupoints, BL-10, BL-11 and GB-34 were stimulated to evaluate the antiemetic effect in children undergoing strabismus surgery [30].

Other interactions of VANGL2

• Human STB2 was homologous to human STB1 (73.1% total-amino-acid identity) and Xenopus Stbm (72.7% total-amino-acid identity) [31].
• Ocular manifestations of FGFR2 syndromes are reported to include shallow orbits, proptosis, strabismus, and hypertelorism, but no ocular anterior chamber, structural abnormalities have been reported until now [32].
• CONCLUSION: Ocular findings in HPS include reduced visual acuity; congenital nystagmus, strabismus and cataract [33].
• Albinism ocular type 1 (OA1) is an X-linked type of albinism that mainly effects pigment production in the eye, resulting in hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers, and reduced visual acuity [34].
• The distinctive phenotype comprised moderate to severe mental retardation, myoclonic-astatic epilepsy, ataxia, strabismus and hypogenitalism [35].

Analytical, diagnostic and therapeutic context of VANGL2

• STB1 and STB2 might be suitable targets for tissue engineering in the field of re-generative medicine and for chemoprevention and treatment in the field of clinical oncology [1].
• Her main clinical features are developmental delay, protruding tongue, strabismus, slightly unusual facies, slight micrognathia, and speech delay [36].
• METHODS: For 262 eyes of 131 children with strabismus (age range, 6 months to 11 years), the radius of the corneal curvature was measured with an auto-keratometer and the anterior chamber depth with an A-scan ultrasound unit under general anesthesia before the surgery [37].
• Presurgery measurements of egocenter location in the people with strabismus were the same as those found in the other control group of 12 normal children [38].
• Other procedures, including tonsillectomy, circumcision, and strabismus repair, resulted in about one-half the children experiencing clinically significant pain (> or = 30 mm on a 100 mm VAS) [39].

References