VIPB
MCID: VSL013
MIFTS: 36

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 57 12 72 6 15
Vipb 57 72
Eye Diseases 44

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 618283
MeSH 44 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 cavitary optic disc anomalies. An important gene associated with Visual Impairment and Progressive Phthisis Bulbi is MARK3 (Microtubule Affinity Regulating Kinase 3). The drugs Methotrexate and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and endothelial, and related phenotypes are ptosis and flat cornea

OMIM® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 365)
# Related Disease Score Top Affiliating Genes
1 eye disease 11.6
2 cavitary optic disc anomalies 11.0
3 intraocular pressure quantitative trait locus 11.0
4 retinitis pigmentosa 10.9
5 retinal detachment 10.9
6 night blindness 10.8
7 trichomegaly 10.8
8 iridocorneal endothelial syndrome 10.8
9 macular degeneration, age-related, 1 10.7
10 microvascular complications of diabetes 5 10.7
11 cataract 10.7
12 yemenite deaf-blind hypopigmentation syndrome 10.7
13 uveitis 10.5
14 conjunctivitis 10.5
15 refractive error 10.5
16 neuroretinitis 10.4
17 retinitis 10.4
18 myopia 10.4
19 keratitis, hereditary 10.4
20 open-angle glaucoma 10.4
21 trachoma 10.4
22 cataract-glaucoma 10.4
23 suppression amblyopia 10.3
24 amblyopia 10.3
25 strabismus 10.3
26 mechanical strabismus 10.3
27 blind hypotensive eye 10.3
28 retinal disease 10.3
29 keratoconjunctivitis 10.3
30 glaucoma, primary open angle 10.3
31 retinoblastoma 10.2
32 allergic conjunctivitis 10.2
33 exudative vitreoretinopathy 1 10.2
34 retinal degeneration 10.2
35 diabetic cataract 10.2
36 optic nerve disease 10.2
37 vernal conjunctivitis 10.2
38 corneal dystrophy 10.2
39 macular retinal edema 10.2
40 iridocyclitis 10.2
41 ptosis 10.1
42 leber plus disease 10.1
43 corneal disease 10.1
44 keratomalacia 10.1
45 retinal vein occlusion 10.1
46 toxoplasmosis 10.1
47 vernal keratoconjunctivitis 10.1
48 microvascular complications of diabetes 1 10.1
49 microvascular complications of diabetes 2 10.1
50 keratoconus 10.1

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®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
reduced visual acuity
hypermetropia
cornea plana
impaired vision, congenital
more

Clinical features from OMIM®:

618283 (Updated 05-Apr-2021)

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 265)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
4
Propylthiouracil Approved, Investigational Phase 4 51-52-5 657298
5
Bevacizumab Approved, Investigational Phase 4 216974-75-3
6
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
7
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
8
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
9
Bromfenac Approved Phase 4 91714-94-2 60726
10
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
11
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
12
Dinoprost tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
13
Dinoprost Approved, Investigational Phase 4 551-11-1 5283078
14
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
15
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
16
Propranolol Approved, Investigational Phase 4 525-66-6 4946
17
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
18
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
19
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
20
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
21
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
22
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
23
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
24
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
25
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
26
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
27
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
28
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 4 8001-79-4
29
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
30 Vitamin B9 Phase 4
31 Vitamin B Complex Phase 4
32 Folate Phase 4
33 Folic Acid Antagonists Phase 4
34 Antimetabolites Phase 4
35 Immunoglobulins, Intravenous Phase 4
36 Antithyroid Agents Phase 4
37 Antineoplastic Agents, Immunological Phase 4
38 Anti-Infective Agents, Local Phase 4
39 Benzalkonium Compounds Phase 4
40 Triamcinolone diacetate Phase 4
41 triamcinolone acetonide Phase 4
42 Hydrocortisone hemisuccinate Phase 4
43 Triamcinolone hexacetonide Phase 4
44 Hydrocortisone 17-butyrate 21-propionate Phase 4
45 Mitogens Phase 4
46 Endothelial Growth Factors Phase 4
47 Carbonic Anhydrase Inhibitors Phase 4
48 Carbopol 940 Phase 4
49 Analgesics, Non-Narcotic Phase 4
50 Analgesics Phase 4

Interventional clinical trials:

(show top 50) (show all 503)
# Name Status NCT ID Phase Drugs
1 Phase IV Study of Hyaluronic Acid Gels for Upper Lid Retraction in Active Stage Thyroid Eye Disease Unknown status NCT01738243 Phase 4 Hyaluronic Acid Gel injection;Saline injection
2 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Unknown status NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
3 Effect of Intense Pulse Light (IPL) Treatment on Tear Film Osmolarity in Dry Eye Disease (DED) With Meibomian Gland Dysfunction (MGD). Unknown status NCT02992535 Phase 4
4 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
5 Rituximab (RTX) Therapy in Steroid Resistant Patients or Patients Relapsing After Intravenous Steroids With Active TAO Unknown status NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
6 The Effect of Early Total Thyroidectomy in the Course of Graves' Orbitopathy Unknown status NCT01056419 Phase 4 Propylthiouracil
7 A Randomized Trial of Intravenous Pulse Versus Sequential Steroid Therapy for Patients With Graves' Orbitopathy Unknown status NCT01969019 Phase 4 methylprednisolone, prednisone
8 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
9 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
10 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
11 Objective Measurements of Prolonged Effects of Restasis on Dry Eye Disease Completed NCT00567177 Phase 4 Restasis, Refresh Plus
12 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 Completed NCT03287635 Phase 4 Corticotropin 80Unit/Ml Repository Injection
13 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)
14 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
15 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
16 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
17 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
18 Effect of Cequa Treatment on Accuracy of Pre-operative Biometry and Higher Order Aberrations in Dry Eye Patients Undergoing Cataract Surgery Completed NCT04342988 Phase 4 Cequa
19 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
20 Randomized Assessor Masked Trial Comparing Manuka Honey Eye Drops to Conventional Treatment of Meibomian Gland Dysfunction Related Dry Eye Disease. Completed NCT04457648 Phase 4
21 Safety Study of the Use of Topical Cyclosporine in the Treatment of Dry Eye Disease Completed NCT02004067 Phase 4 Restasis;Refresh Endura
22 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
23 Effect of Lifitegrast on Dry Eye Disease Signs and Symptoms Completed NCT03451396 Phase 4 Lifitegrast
24 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
25 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)
26 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
27 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4 Diclofenac;Methimazole;L-thyroxin;Propranolol;Metoprolol
28 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4
29 Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections Completed NCT01599273 Phase 4 subconjunctival triamcinolone injection
30 Aqueous Humor Dynamic Components That Determine Intraocular Pressure Variance Recruiting NCT04412096 Phase 4 Timolol 0.5% ophthalmic solution;Latanoprost 0.005% Ophthalmic Solution
31 Intracanalicular Dexamethasone Used in Conjunction With Xiidra (Lifitegrast Ophthalmic Solution) for the Treatment of Signs and Symptoms of Dry Eye Disease as Compared to Xiidra Alone Recruiting NCT04413253 Phase 4 Lifitegrast 5% Ophthalmic Solution;Dexamethasone Intracanalicular Insert, 0.4mg with Lifitegrast 5% Ophthalmic Solution
32 Effect of Cequa™ in Subjects With Dry Eye Disease That Is Currently Inadequately Controlled While on Cyclosporine 0.05% Ophthalmic Emulsion Recruiting NCT04357795 Phase 4 CequaTM (Cyclosporine 0.09%) ophthalmic solution
33 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 Recruiting NCT04413279 Phase 4 Dexamethasone Intracanalicular Insert, 0.4mg with LipiFlow Thermal Pulsation
34 Ikervis for Prophylaxis of Dry Eye Disease Due to Graft vs Host Disease Post Allogeneic Haemtopoietic Stem Cell Transplant Recruiting NCT04636918 Phase 4 Cyclosporine Ophthalmic
35 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
36 Intracanalicular Dexamethasone Used in Conjunction With Restasis (Cyclosporine Ophthalmic Emulsion) for the Treatment of Signs and Symptoms of Dry Eye Disease as Compared to Restasis With Lotemax (Loteprednol Etabonate Ophthalmic Suspension 0.5%) and Restasis Monotherapy. Recruiting NCT04555694 Phase 4 Cyclosporin;Loteprednol Etabonate;Dexamethasone Ophthalmic 0.4 Mg Ophthalmic Insert
37 Intracanalicular Dexamethasone Insert for the Treatment of Inflammation and Discomfort in Dry Eye Disease Recruiting NCT04527887 Phase 4 Dextenza (IDI) (Sustained Release Dexamethasone), (0.4 mg)
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 Using A Novel Classification System in Intravenous Glucocorticoids Therapy of TAO: A Multi-central, Randomized, Open, Superior Trial Recruiting NCT03107078 Phase 4 Glucocorticoids
40 Pre-surgical Ocular Surface Treatment With Intracanalicular Dexamethasone Insert and Effect on Intraocular Lens Measurement Accuracy - The PRECISION Study Not yet recruiting NCT04530864 Phase 4 Dextenza 0.4Mg Ophthalmic Insert
41 A Phase 4, Randomized, Double-masked, Placebo-controlled, Multicenter Trial to Evaluate the Efficacy and Safety of TEPEZZA® in Treating Patients With Chronic (Inactive) Thyroid Eye Disease Not yet recruiting NCT04583735 Phase 4 Placebo
42 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%
43 A 52-week, Two Arm, Randomized, Open-label, Multicenter Study Assessing the Efficacy and Safety of Two Different Brolucizumab 6 mg Dosing Regimens for Patients With Suboptimal Anatomically Controlled Neovascular Age-related Macular Degeneration Not yet recruiting NCT04679935 Phase 4
44 A Phase IV, Randomized, Multi-center Clinical Trial to Compare the Efficacy of Orbital Radiotherapy in Association With Intravenous Glucocorticoids vs Intravenous Glucocorticoids Alone for Moderately Severe and Active Graves' Orbitopathy Not yet recruiting NCT03098225 Phase 4 Methylprednisolone
45 Investigating iLux Efficacy in Contact Lens Wearers With Evaporative Dry Eye Disease Suspended NCT04159935 Phase 4
46 The Secondary Beneficial Effects of Prostaglandin Analog Treatment in Thyroid Eye Disease Patients. Withdrawn NCT01927406 Phase 4 Prostaglandin Analog;Timolol
47 A Phase IV, Randomized, Parallel Group, Investigator-Masked Evaluation of the Effect of Loteprednol Etabonate Ophthalmic Gel 0.5% on the Initiation of Dry Eye Treatment With Restasis® Withdrawn NCT02028312 Phase 4 Loteprednol etabonate;Artificial Tears;Restasis
48 Use of 5.0% Lifitegrast Ophthalmic Solution for the Treatment of Dry Eye Disease in Contact Lens Wearers Withdrawn NCT03431272 Phase 4 Lifitegrast
49 Effects of Xiidra on Closed Eye Tear Film Leukocytes in Dry Eye Disease Withdrawn NCT03408015 Phase 4 Lifitegrast
50 Use of Botox in the Management of Thyroid Related Upper Eyelid Retraction Withdrawn NCT01272414 Phase 4 Botulinum Toxin Type A;Saline injection

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, Endothelial, Liver, Bone, Lymph Node, Retina

Publications for Visual Impairment and Progressive Phthisis Bulbi

Articles related to Visual Impairment and Progressive Phthisis Bulbi:

(show all 22)
# Title Authors PMID Year
1
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3. 57 61 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
Remodelling of VipA/VipB tubules by ClpV-mediated threading is crucial for type VI protein secretion. 61
19131969 2009
19
Positive autoregulation of vipR expression in ViaB region-encoded Vi antigen of Salmonella typhi. 61
8631721 1996
20
Sequence analysis and molecular characterization of genes required for the biosynthesis of type 1 capsular polysaccharide in Staphylococcus aureus. 61
7961465 1994
21
Complete nucleotide sequence and molecular characterization of ViaB region encoding Vi antigen in Salmonella typhi. 61
8331073 1993
22
Synthesis, cloning and expression in Escherichia coli of artificial genes coding for biologically active elongated precursors of the vasoactive intestinal polypeptide. 61
3145201 1988

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 Position
1 MARK3 NM_001128918.3(MARK3):c.1708C>G (p.Arg570Gly) SNV Pathogenic 599409 rs376395495 GRCh37: 14:103958235-103958235
GRCh38: 14:103491898-103491898

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

72
# 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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