VIPB
MCID: VSL013
MIFTS: 41

Visual Impairment and Progressive Phthisis Bulbi (VIPB)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Visual Impairment and Progressive Phthisis Bulbi

MalaCards integrated aliases for Visual Impairment and Progressive Phthisis Bulbi:

Name: Visual Impairment and Progressive Phthisis Bulbi 56 12 73 6 15
Vipb 56 73
Eye Diseases 43

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 3 sibs from a consanguineous pakistani family (last curated january 2019)


HPO:

31
visual impairment and progressive phthisis bulbi:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070356
OMIM 56 618283
MeSH 43 D005128

Summaries for Visual Impairment and Progressive Phthisis Bulbi

Disease Ontology : 12 An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has material basis in homozygous mutation in the MARK3 gene on chromosome 14q3.

MalaCards based summary : Visual Impairment and Progressive Phthisis Bulbi, also known as vipb, is related to eye disease and hyperthyroidism. An important gene associated with Visual Impairment and Progressive Phthisis Bulbi is MARK3 (Microtubule Affinity Regulating Kinase 3). The drugs Propylthiouracil and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and testes, and related phenotypes are ptosis and flat cornea

OMIM : 56 Visual impairment and progressive phthisis bulbi is characterized by poor vision at birth, with development of bilateral phthisis by adulthood (Ansar et al., 2018). (618283)

UniProtKB/Swiss-Prot : 73 Visual impairment and progressive phthisis bulbi: An autosomal recessive, progressive disease characterized by poor vision at birth and development of bilateral phthisis bulbi by adulthood.

Related Diseases for Visual Impairment and Progressive Phthisis Bulbi

Diseases related to Visual Impairment and Progressive Phthisis Bulbi via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 702)
# Related Disease Score Top Affiliating Genes
1 eye disease 32.4 SERPINF1 LMOD1 LCAT
2 hyperthyroidism 30.8 SDHA LMOD1
3 fish-eye disease 12.6
4 aland island eye disease 12.6
5 bornholm eye disease 12.5
6 rare genetic eye disease 12.1
7 macular degeneration, age-related, 1 11.4
8 microvascular complications of diabetes 5 11.3
9 intraocular pressure quantitative trait locus 11.3
10 retinal disease 11.2
11 exophthalmos 11.2
12 optic nerve disease 11.2
13 lecithin:cholesterol acyltransferase deficiency 11.2
14 myopia 11.2
15 usher syndrome 11.2
16 superior limbic keratoconjunctivitis 11.2
17 retinal detachment 11.1
18 retinitis pigmentosa 11.1
19 ptosis 11.1
20 night blindness 11.1
21 corneal disease 11.1
22 retinal degeneration 11.1
23 cavitary optic disc anomalies 11.1
24 ocular hypertension 11.1
25 coloboma of macula 11.0
26 microphthalmia 11.0
27 ocular albinism 11.0
28 familial lcat deficiency 11.0
29 retinoschisis 1, x-linked, juvenile 11.0
30 fuchs' endothelial dystrophy 11.0
31 intermediate uveitis 11.0
32 pars planitis 11.0
33 anterior segment dysgenesis 11.0
34 loiasis 11.0
35 nonarteritic anterior ischemic optic neuropathy 11.0
36 usher syndrome, type i 11.0
37 macular degeneration, age-related, 10 11.0
38 uveal disease 11.0
39 conjunctival disease 11.0
40 senior-loken syndrome 1 10.9
41 neuropathy, ataxia, and retinitis pigmentosa 10.8
42 yemenite deaf-blind hypopigmentation syndrome 10.7
43 sveinsson chorioretinal atrophy 10.7
44 schnyder corneal dystrophy 10.7
45 corneal dystrophy, meesmann, 1 10.7
46 macular degeneration, age-related, 2 10.7
47 mucoepithelial dysplasia, hereditary 10.7
48 pigmented paravenous chorioretinal atrophy 10.7
49 trichomegaly 10.7
50 leber congenital amaurosis 1 10.7

Graphical network of the top 20 diseases related to Visual Impairment and Progressive Phthisis Bulbi:



Diseases related to Visual Impairment and Progressive Phthisis Bulbi

Symptoms & Phenotypes for Visual Impairment and Progressive Phthisis Bulbi

Human phenotypes related to Visual Impairment and Progressive Phthisis Bulbi:

31
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 flat cornea 31 HP:0007720
3 reduced visual acuity 31 HP:0007663
4 phthisis bulbi 31 HP:0000667
5 hypermetropia 31 HP:0000540

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
ptosis
reduced visual acuity
hypermetropia
cornea plana
impaired vision, congenital
more

Clinical features from OMIM:

618283

Drugs & Therapeutics for Visual Impairment and Progressive Phthisis Bulbi

Drugs for Visual Impairment and Progressive Phthisis Bulbi (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 289)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propylthiouracil Approved, Investigational Phase 4 51-52-5 657298
2
Bevacizumab Approved, Investigational Phase 4 216974-75-3
3
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
4
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
5
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
6
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
7
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
8
Azithromycin Approved Phase 4 83905-01-5 447043 55185
9
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
10
Methimazole Approved Phase 4 60-56-0 1349907
11
Dinoprost Approved, Investigational Phase 4 551-11-1 5283078
12
Dinoprost tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
13
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
14
Sorbitol Approved Phase 4 50-70-4 5780
15
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
16
Propranolol Approved, Investigational Phase 4 525-66-6 4946
17
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
18
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
19
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
20 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
21
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
22
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
23
rituximab Approved Phase 4 174722-31-7 10201696
24
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
25
leucovorin Approved Phase 4 58-05-9 6006 143
26
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
27
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
28
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
29
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
30
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
31
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 4 8001-79-4
32
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
33
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
34 Endothelial Growth Factors Phase 4
35 Anti-Infective Agents, Local Phase 4
36 Benzalkonium Compounds Phase 4
37 Hydrocortisone 17-butyrate 21-propionate Phase 4
38 Triamcinolone diacetate Phase 4
39 Hydrocortisone hemisuccinate Phase 4
40 triamcinolone acetonide Phase 4
41 Triamcinolone hexacetonide Phase 4
42 Antithyroid Agents Phase 4
43 Technetium Tc 99m Medronate Phase 4
44 Methylene diphosphonate Phase 4
45 Radiopharmaceuticals Phase 4
46 Diphosphonates Phase 4
47 Guar Phase 4
48 Laxatives Phase 4
49 Cathartics Phase 4
50 Carbonic Anhydrase Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 560)
# Name Status NCT ID Phase Drugs
1 A Randomized Trial of Intravenous Pulse Versus Sequential Steroid Therapy for Patients With Graves' Orbitopathy Unknown status NCT01969019 Phase 4 methylprednisolone, prednisone
2 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With One Suprachoroidal Stent Unknown status NCT01252914 Phase 4
3 A Phase IV, Prospective, Open-label, Multicentre, Single Arm, 3-month Proof of Concept Study to Assess the Effect of IKERVIS® Eye Drops Administered Once Daily on the Quality of Vision in Dry Eye Disease (DED) Patients With Severe Keratitis Unknown status NCT03237936 Phase 4 1mg/mL ciclosporin
4 Use of Vascular Endothelial Growth Factor Inhibitor, Bevacizumab to Modulate the Outcomes of Trabeculectomy Surgery Unknown status NCT01229202 Phase 4 Bevacizumab
5 The Effect of Early Total Thyroidectomy in the Course of Graves' Orbitopathy Unknown status NCT01056419 Phase 4 Propylthiouracil
6 Assessment in Early Changes in the Parameters of Optical Coherence Tomography (OCT Spectral Domain) in Patients With Subfoveal Neovascular Membranes Related to Age After Treatment With a Single Intravitreal Injection of Lucentis. Unknown status NCT01669447 Phase 4
7 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Unknown status NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
8 A Prospective, Unmasked, Randomized Evaluation of the iStent Versus Two Ocular Hypotensive Agents in Patients With Primary Open-Angle Glaucoma Completed NCT00913029 Phase 4 latanoprost/timolol
9 Bromfenac 0.09% vs. Ketorolac 0.4% During the Induction Phase of Treatment With Topical Cyclosporine for Chronic Dry Eye Patients Completed NCT00520260 Phase 4 bromfenac;ketorolac
10 Objective Measurements of Prolonged Effects of Restasis on Dry Eye Disease Completed NCT00567177 Phase 4 Restasis, Refresh Plus
11 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252888 Phase 4
12 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
13 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4
14 Multi-Center Study Comparing Efficacy and Tolerability of TRAVATAN® BAK-free (0.004% Travoprost) in Patients Previously on Latanoprost Ophthalmic Solution 0.005% Monotherapy Completed NCT01510145 Phase 4 Travoprost 0.004% BAK-free
15 A Double-masked, Methylprednisolone-control, Efficacy and Safety Study of 99Tc-MDP for Thyroid Associated Ophthalmopathy. Completed NCT03948191 Phase 4 Methylprednisolone;99Tc-MDP(99Technetium-Methylenediphosphonate Injection)
16 A Four Week Study of Azithromycin Ophthalmic Solution, 1% Versus Placebo in Subjects With Dry Eye Disease Completed NCT01014078 Phase 4 Azithromycin Ophthalmic Solution, 1%;Placebo
17 Effect of High-Dose Prednisolone (Solu Dacortin®) Treatment on Choroidal and Optic Nerve Head Blood Flow in Humans Completed NCT00312325 Phase 4 Prednisolone
18 Effect of Lifitegrast on Dry Eye Disease Signs and Symptoms Completed NCT03451396 Phase 4 Lifitegrast
19 An 8 Week, Single Masked, Parallel-Group, Exploratory Study Comparing Ocular Surface Signs and Symptoms in Monotherapy Ocular Hypertension or Glaucoma Patients Randomized to Either Xalatan® or Travatan Z® Completed NCT00799682 Phase 4 Xalatan;Travatan Z
20 Safety Study of the Use of Topical Cyclosporine in the Treatment of Dry Eye Disease Completed NCT02004067 Phase 4 Restasis;Refresh Endura
21 A Prospective, Multicenter, Randomized Controlled Study of the Effect of Lotepredol Etabonate on The Initiation of Dry Eye Treatment With Topical Cyclosporine Completed NCT00407043 Phase 4 Lotemax;Restasis
22 An Open-label, Multi-center, 6-month Extension Study Comparing the Long-term Efficacy and Safety of Lucentis (Ranibizumab) Intravitreal Injections Versus Ozurdex (Dexamethasone) Intravitreal Implant in Patients With Visual Impairment Due to Macular Edema Following Branch Retinal Vein Occlusion (BRVO) or Central Retinal Vein Occlusion (CRVO) Who Have Completed the Respective Core Study (CRFB002EDE17 or CRFB002EDE18) Completed NCT01580020 Phase 4 Dexamethasone
23 Prostaglandin F2-alpha Eye Drops (Bimatoprost) in Thyroid Eye Disease: a Randomised Controlled Double Blind Crossover Trial Completed NCT02059655 Phase 4 Bimatoprost;Eye drop solution
24 Clinical Trial of Interventions for Visual Loss in Nursing Home Residents Completed NCT00348621 Phase 4
25 Steroids for Corneal Ulcers Trial Completed NCT00324168 Phase 4 Antibiotics;Topical corticosteroid;Placebo
26 Eliminating Trachoma With Repeat Mass Drug Treatment Completed NCT00322972 Phase 4 Mass treatment with oral azithromycin to an entire community
27 Clinical Efficacy of Topical Hydrocortisone 0.335% (Softacort®) in Patients With Chronic Dry Eye Disease and Associated Ocular Surface Inflammation Completed NCT03907865 Phase 4 Softacort
28 Comparison of the Vascular Endothelial Growth Factor Serum Concentrations After Intravitreal Use of Bevacizumab or Ranibizumab as a Treatment for Type 1 Retinopathy of Prematurity Completed NCT03148132 Phase 4 Bevacizumab Injection;Ranibizumab Ophthalmic
29 Tripartite International Research for the Elimination of Trachoma Completed NCT01202331 Phase 4 mass treatment with oral azithromycin
30 Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections Completed NCT01599273 Phase 4 subconjunctival triamcinolone injection
31 The Utility of in Vivo Confocal Microscopy (IVCM) to Assess Cellular Response and Efficacy of Long-term Topical Steroid Treatment in Patients With Dry Eye Disease (DED) Completed NCT02120079 Phase 4 Lotemax;Soothe Tired Eyes Lubricant Eye Drop (Artificial Tears)
32 Efficacy and Safety of the Ophthalmic Solution PRO-087 Versus Systane ® Ultra and Systane ® Ultra Preservative Free on Tear Film Dysfunction Syndrome From Mild to Moderate Completed NCT03223909 Phase 4 PRO-087;Systane Ultra;Systane Ultra Preservative Free
33 Proof of Concept Study of the Effectiveness of Ozurdex in Lieu of Oral Corticosteroids for the Control of Active Intermediate and Posterior Uveitis Requiring Immunosuppressive Drug Therapy Completed NCT02049476 Phase 4 Dexamethasone pellet
34 Change in Optic Nerve Head Blood Flow,Optic Nerve Topography and Diurnal Fluctuation of Intraocular Pressure and Pulsatile Ocular Blood Flow in Glaucoma:Cosopt and Xalatan vs Xalatan Alone Completed NCT00957190 Phase 4 Dorzolamide 20 mg and Timolol 5 mg
35 Influence of Methylprednisolone Pulse Therapy on Liver Function in Patients With Graves' Orbitopathy Completed NCT03667157 Phase 4 every week IVMP therapy;very high doses IVMP therapy
36 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4 Diclofenac;Methimazole;L-thyroxin;Propranolol;Metoprolol
37 Investigating iLux Efficacy in Contact Lens Wearers With Evaporative Dry Eye Disease Recruiting NCT04159935 Phase 4
38 Predicting the Success of Dry Eye Disease Interventions Using Clinical Tests Recruiting NCT04125134 Phase 4 Preservative-free Refresh Optive Advanced Lubricant Eye Drops
39 Short-term Supplemental Effect of Preservative-free Low-dose Hyaluronic Acid-containing Salt Solution on Dry Eye Disease - A Randomized, Parallel-group, Double-blind, Controlled Trial Recruiting NCT03888183 Phase 4 salt solution without 0.15% HA;preservative-free 0.15% HA
40 Using A Novel Classification System in Intravenous Glucocorticoids Therapy of TAO: A Multi-central, Randomized, Open, Superior Trial Recruiting NCT03107078 Phase 4 Glucocorticoids
41 Steroids and/ or Non-steroidal Anti-inflammatory Drugs in the Postoperative Regime After Trabeculectomy. An Investigator-initiated Randomized Study (The SNAP Study) Recruiting NCT04054830 Phase 4 Voltaren Ophtha 1 mg/ml, GSK;Monopex 1 mg/ml, Théa
42 Study Title: A Phase 4 Study to Assess the Clinical Efficacy of H.P. Acthar Gel 80 U/ml to Improve the Signs and Symptoms in Subjects With Dry Eye Disease Recruiting NCT03287635 Phase 4 Corticotropin 80Unit/Ml Repository Injection
43 Phase IV Study of Hyaluronic Acid Gels for Upper Lid Retraction in Active Stage Thyroid Eye Disease Recruiting NCT01738243 Phase 4 Hyaluronic Acid Gel injection;Saline injection
44 Rituximab (RTX) Therapy in Steroid Resistant Patients or Patients Relapsing After Intravenous Steroids With Active TAO Recruiting NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
45 Atropine for Children and Adolescent Myopia Progression Study (ACAMP) Enrolling by invitation NCT03949101 Phase 4 Atropine Sulfate 1 % Ophthalmic Ointment and Atropine Sulfate 0.01% Eye Drop;atropine 0.01% eye drop
46 Effect of Latanoprostene Bunod Ophthalmic Solution 0.024% on Episcleral Venous Pressure and Outflow Facility in Ocular Hypertensive Subjects Not yet recruiting NCT04140279 Phase 4 Latanoprostene Bunod;Placebo
47 FLuorometholone as Adjunctive MEdical Therapy for TT Surgery (FLAME) Trial Not yet recruiting NCT04149210 Phase 4 Fluorometholone 0.1% Oph Susp;Artificial Tears
48 A Phase IV, Multicenter, Randomized, Single-blinded(Evaluator), Active-controlled, Parallel Study for Evaluating HA 0.15% Compared With Cyclosporine 0.05%, and Efficacy of Combination Therapy in Moderate to Severe Dry Eye Disease Patients Not yet recruiting NCT04127851 Phase 4 TJO-018;Cyclosporine Ophthalmic Emulsion 0.05%;TJO-018 + Cyclosporine Ophthalmic Emulsion 0.05%
49 Effect of Cequa™ in Subjects With Dry Eye Disease That Is Currently Inadequately Controlled While on Cyclosporine 0.05% Ophthalmic Emulsion Not yet recruiting NCT04357795 Phase 4 CequaTM (Cyclosporine 0.09%) ophthalmic solution
50 Intracanalicular Dexamethasone Used in Conjunction With LipiFlow for the Treatment of Meibomian Gland Dysfunction in Patients With Evaporative Dry Eye Disease and Evidence of Clinically Significant Inflammation Not yet recruiting NCT04413279 Phase 4 Dexamethasone Intracanalicular Insert, 0.4mg with LipiFlow Thermal Pulsation

Search NIH Clinical Center for Visual Impairment and Progressive Phthisis Bulbi

Cochrane evidence based reviews: eye diseases

Genetic Tests for Visual Impairment and Progressive Phthisis Bulbi

Anatomical Context for Visual Impairment and Progressive Phthisis Bulbi

MalaCards organs/tissues related to Visual Impairment and Progressive Phthisis Bulbi:

40
Eye, Thyroid, Testes, Endothelial, Heart, B Cells, Bone

Publications for Visual Impairment and Progressive Phthisis Bulbi

Articles related to Visual Impairment and Progressive Phthisis Bulbi:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3. 61 56 6
29771303 2018
2
Type VI secretion system sheath inter-subunit interactions modulate its contraction. 61
29222345 2018
3
Atomic Structure of Type VI Contractile Sheath from Pseudomonas aeruginosa. 61
29307484 2018
4
A single point mutation in a TssB/VipA homolog disrupts sheath formation in the type VI secretion system of Proteus mirabilis. 61
28949977 2017
5
Type VI secretion system sheaths as nanoparticles for antigen display. 61
26929342 2016
6
Structure of the type VI secretion system contractile sheath. 61
25723169 2015
7
Screening for inhibition of Vibrio cholerae VipA-VipB interaction identifies small-molecule compounds active against type VI secretion. 61
24798289 2014
8
Structure of the VipA/B type VI secretion complex suggests a contraction-state-specific recycling mechanism. 61
24953649 2014
9
A functional VipA-VipB interaction is required for the type VI secretion system activity of Vibrio cholerae O1 strain A1552. 61
23642157 2013
10
ClpV recycles VipA/VipB tubules and prevents non-productive tubule formation to ensure efficient type VI protein secretion. 61
23289512 2013
11
The HsiB1C1 (TssB-TssC) complex of the Pseudomonas aeruginosa type VI secretion system forms a bacteriophage tail sheathlike structure. 61
23341461 2013
12
Systematic dissection of the agrobacterium type VI secretion system reveals machinery and secreted components for subcomplex formation. 61
23861778 2013
13
Molecular basis for the unique role of the AAA+ chaperone ClpV in type VI protein secretion. 61
21733841 2011
14
Molecular characterization of a functional type VI secretion system in Salmonella enterica serovar Typhi. 61
21487806 2011
15
Genetic analysis of anti-amoebae and anti-bacterial activities of the type VI secretion system in Vibrio cholerae. 61
21909372 2011
16
A bacterial two-hybrid system that utilizes Gateway cloning for rapid screening of protein-protein interactions. 61
21091448 2010
17
Tubules and donuts: a type VI secretion story. 61
20444095 2010
18
PEDF in angiogenic eye diseases. 54
20236057 2010
19
Pathogenesis of thyroid eye disease--does autoimmunity against the TSH receptor explain all cases? 54
20464711 2010
20
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. 54
20085643 2010
21
Remodelling of VipA/VipB tubules by ClpV-mediated threading is crucial for type VI protein secretion. 61
19131969 2009
22
Implications of new monoclonal antibodies and the crystal structure of the TSH receptor for the treatment and management of thyroid diseases. 54
20477447 2008
23
Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma. 54
18637741 2008
24
Pigment epithelium-derived factor prevents melanoma growth via angiogenesis inhibition. 54
19128233 2008
25
Effects of sequential artificial tear and cyclosporine emulsion therapy on conjunctival goblet cell density and transforming growth factor-beta2 production. 54
18245969 2008
26
Positive correlation of pigment epithelium-derived factor and total antioxidant capacity in aqueous humour of patients with uveitis and proliferative diabetic retinopathy. 54
17389742 2007
27
L1 retrotransposition can occur early in human embryonic development. 54
17483097 2007
28
A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency. 54
17439325 2007
29
Pigment epithelium-derived factor (PEDF) inhibits angiotensin II-induced smooth muscle cell proliferation through its anti-oxidative properties. 54
17627605 2007
30
The distribution of cystathionine beta-synthase (CBS) in the eye: implication of the presence of a trans-sulfuration pathway for oxidative stress defense. 54
16769053 2006
31
Study of serum antibodies against three eye muscle antigens and the connective tissue antigen collagen XIII in patients with Graves' disease with and without ophthalmopathy: correlation with clinical features. 54
17042681 2006
32
[Establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene]. 54
17081426 2006
33
The role of the forkhead transcription factor, Foxc1, in the development of the mouse lacrimal gland. 54
16470615 2006
34
High prevalence of alpha 1 antitrypsin phenotypes in viral hepatitis B infected patients in Iran. 54
16260177 2005
35
Pigment epithelium-derived factor (PEDF)-induced apoptosis and inhibition of vascular endothelial growth factor (VEGF) expression in MG63 human osteosarcoma cells. 54
15985268 2005
36
[Fish eye disease revealing a partial LCAT deficiency]. 54
15936482 2005
37
PAX6 mutations: genotype-phenotype correlations. 54
15918896 2005
38
Alpha-1-antitrypsin phenotypes and HLA-B27 typing in uveitis patients in southeast Iran. 54
15820772 2005
39
Mutation analysis of PAX6 gene in a large Chinese family with aniridia. 54
15740668 2005
40
Met72Thr polymorphism of pigment epithelium-derived factor gene and susceptibility to age-related macular degeneration. 54
15823717 2005
41
Concentration of transforming growth factor beta2 in aqueous humor. 54
15637419 2005
42
Gene symbol: LCAT. Disease: Fish eye disease. 54
15678588 2004
43
The effect of long-term somatostatin analogue treatment on free and total insulin-like growth factor (IGF) -I, -II and IGF binding protein -1, -2 and -3 serum levels in euthyroid patients with active thyroid eye disease. 54
16982592 2004
44
Decrease of pigment epithelium-derived factor in aqueous humor with increasing age. 54
15126162 2004
45
Bioinformatic approaches for identification and characterization of olfactomedin related genes with a potential role in pathogenesis of ocular disorders. 54
15123989 2004
46
Overexpression of pigment epithelium-derived factor decreases angiogenesis and inhibits the growth of human malignant melanoma cells in vivo. 54
15039211 2004
47
Using denaturing HPLC for SNP discovery and genotyping, and establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene. 54
14661078 2004
48
Optineurin in primary open angle glaucoma. 54
14740994 2003
49
[Ocular manifestation in LCAT deficiency--a clinicopathological correlation]. 54
12886512 2003
50
Identification of differentially expressed genes in keratoconus epithelium analyzed on microarrays. 54
12766045 2003

Variations for Visual Impairment and Progressive Phthisis Bulbi

ClinVar genetic disease variations for Visual Impairment and Progressive Phthisis Bulbi:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MARK3 NM_001128918.3(MARK3):c.1708C>G (p.Arg570Gly)SNV Pathogenic 599409 rs376395495 14:103958235-103958235 14:103491898-103491898

UniProtKB/Swiss-Prot genetic disease variations for Visual Impairment and Progressive Phthisis Bulbi:

73
# Symbol AA change Variation ID SNP ID
1 MARK3 p.Arg570Gly VAR_080778 rs376395495

Expression for Visual Impairment and Progressive Phthisis Bulbi

Search GEO for disease gene expression data for Visual Impairment and Progressive Phthisis Bulbi.

Pathways for Visual Impairment and Progressive Phthisis Bulbi

GO Terms for Visual Impairment and Progressive Phthisis Bulbi

Sources for Visual Impairment and Progressive Phthisis Bulbi

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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