Aliases & Classifications for Ptosis

MalaCards integrated aliases for Ptosis:

Name: Ptosis 12 76 29 6 15 73
Blepharoptosis 12 55 44
Drooping Eyelid 12

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology 12 DOID:0060260
ICD10 33 H02.40 H02.409
ICD9CM 35 374.3 374.30
MeSH 44 D001763
NCIt 50 C27298

Summaries for Ptosis

Disease Ontology : 12 An eye disease characterized by the drooping or falling of the upper or lower eyelid.

MalaCards based summary : Ptosis, also known as blepharoptosis, is related to congenital ptosis and blepharophimosis. An important gene associated with Ptosis is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Gap junction and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. The drugs Chromium and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and heart, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 76 Ptosis (from the Greek word πτῶσις \"falling\", \"a fall\", \"dropped\") refers to droopiness of a body... more...

Related Diseases for Ptosis

Diseases in the Ptosis family:

Ptosis, Hereditary Congenital 1 Ptosis, Hereditary Congenital 2
Congenital Ptosis

Diseases related to Ptosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 369)
# Related Disease Score Top Affiliating Genes
1 congenital ptosis 33.8 COL25A1 KIF21A RYR1 TUBB3 ZFHX4
2 blepharophimosis 33.0 FOXL2 TWIST1 UBE3B
3 tukel syndrome 32.2 KIF21A PHOX2A TUBB3 TUBB6
4 epicanthus 32.1 ANKRD11 FOXL2 TWIST1 UBE3B
5 kearns-sayre syndrome 32.0 KIF21A PHOX2A TUBB3
6 fibrosis of extraocular muscles, congenital, 2 31.7 KIF21A PHOX2A
7 strabismus 30.5 KIF21A PHOX2A TUBB3 TWIST1
8 exotropia 30.3 KIF21A PHOX2A TUBB3
9 hypotropia 30.0 KIF21A PHOX2A TUBB3
10 blepharophimosis, ptosis, and epicanthus inversus 12.5
11 ptosis, hereditary congenital 1 12.1
12 intellectual developmental disorder with dysmorphic facies and ptosis 12.1
13 blepharophimosis with ptosis, syndactyly, and short stature 12.1
14 deafness, conductive, with ptosis and skeletal anomalies 12.1
15 facial palsy, congenital, with ptosis and velopharyngeal dysfunction 12.1
16 aniridia - ptosis - intellectual disability - familial obesity 12.1
17 blepharoptosis, myopia, and ectopia lentis 12.0
18 ptosis, strabismus, and ectopic pupils 12.0
19 microbrachycephaly ptosis cleft lip 12.0
20 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 11.9
21 ptosis, hereditary congenital 2 11.9
22 disproportionate short stature with ptosis and valvular heart lesions 11.8
23 vocal cord paralysis and ptosis 11.8
24 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia 11.8
25 charcot-marie-tooth disease with ptosis and parkinsonism 11.8
26 ophthalmoplegia totalis with ptosis and miosis 11.8
27 mandibulofacial dysostosis with ptosis, autosomal dominant 11.8
28 congenital heart disease ptosis hypodontia craniostosis 11.8
29 optic atrophy opthalmoplegia ptosis deafness myopia 11.8
30 ptosis strabismus diastasis 11.8
31 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 11.8
32 ptosis-syndactyly-learning difficulties syndrome 11.8
33 metopic ridging-ptosis-facial dysmorphism syndrome 11.8
34 baraitser-winter syndrome 11.7
35 kaufman oculocerebrofacial syndrome 11.6
36 baraitser-winter syndrome 1 11.5
37 marcus gunn phenomenon 11.5
38 3mc syndrome 2 11.5
39 oculopharyngeal muscular dystrophy 11.3
40 richieri-costa/guion-almeida syndrome 11.3
41 wandering spleen 11.3
42 fibrosis of extraocular muscles, congenital, 1 11.2
43 jorgenson lenz syndrome 11.2
44 tucker syndrome 11.2
45 chronic progressive external ophthalmoplegia 11.2
46 bell's palsy 11.2
47 horner's syndrome 11.1
48 widow's peak 11.1
49 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 11.1
50 autosomal dominant optic atrophy plus syndrome 11.1

Graphical network of the top 20 diseases related to Ptosis:



Diseases related to Ptosis

Symptoms & Phenotypes for Ptosis

GenomeRNAi Phenotypes related to Ptosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.12 MUSK
2 Decreased viability GR00173-A 10.12 MUSK
3 Decreased viability GR00221-A-1 10.12 MUSK
4 Decreased viability GR00221-A-4 10.12 MUSK
5 Decreased viability GR00240-S-1 10.12 TUBB6 PHOX2A SOS1 TUBB3
6 Decreased viability GR00381-A-1 10.12 OPA1
7 Decreased viability GR00402-S-2 10.12 TUBB6 TWIST1 UBE3B ZFHX4 ANKRD11 BRPF1
8 no effect GR00402-S-1 9.62 TUBB3 TUBB6 TWIST1 UBE3B ZFHX4 ANKRD11

MGI Mouse Phenotypes related to Ptosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ANKRD11 BRPF1 COL25A1 IGHMBP2 MUSK OPA1
2 cellular MP:0005384 10.18 BRPF1 COL25A1 IGHMBP2 MUSK OPA1 PABPN1
3 growth/size/body region MP:0005378 10.18 FOXL2 IGHMBP2 MUSK OPA1 PHOX2A RYR1
4 mortality/aging MP:0010768 10.16 ANKRD11 BRPF1 COL25A1 FOXC2 FOXL2 IGHMBP2
5 homeostasis/metabolism MP:0005376 10.13 FOXC2 FOXL2 IGHMBP2 MUSK OPA1 PABPN1
6 muscle MP:0005369 9.81 COL25A1 FOXC2 IGHMBP2 MUSK OPA1 PABPN1
7 nervous system MP:0003631 9.73 BRPF1 COL25A1 FOXC2 IGHMBP2 MUSK OPA1
8 respiratory system MP:0005388 9.17 COL25A1 FOXC2 IGHMBP2 MUSK PHOX2A RYR1

Drugs & Therapeutics for Ptosis

Drugs for Ptosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 218)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Chromium Approved Phase 4 7440-47-3 27668
2
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 5284616 6436030 46835353
5
Epinephrine Approved, Vet_approved Phase 4,Not Applicable 51-43-4 5816
6
Lidocaine Approved, Vet_approved Phase 4,Phase 1,Not Applicable 137-58-6 3676
7
Racepinephrine Approved Phase 4,Not Applicable 329-65-7 838
8
Acetylcholine Approved Phase 4,Phase 1,Phase 2,Not Applicable 51-84-3 187
9
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 2180-92-9, 38396-39-3 2474
10
Menthol Approved Phase 4,Phase 1,Phase 2,Not Applicable 2216-51-5 16666
11
Acetaminophen Approved Phase 4 103-90-2 1983
12
Silicon Approved, Investigational Phase 4,Not Applicable 7440-21-3 4082203
13
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 71273 175805
14
Magnesium citrate Approved Phase 4 3344-18-1
15
Nitrofurantoin Approved, Vet_approved Phase 4,Not Applicable 67-20-9 5353830
16
Morphine Approved, Investigational Phase 4 57-27-2 5288826
17
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3 148553-50-8 5486971
18
Rizatriptan Approved Phase 4 145202-66-0, 144034-80-0 5078
19
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
20
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
21
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
22
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
23
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
24
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
25
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
26
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
27
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3 56-12-2 119
28
Probucol Approved, Investigational Phase 4 23288-49-5 4912
29
Misoprostol Approved Phase 4 59122-46-2 5282381
30
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
31
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
32
Ibuprofen Approved Phase 4 15687-27-1 3672
33
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
34
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
35
Baclofen Approved Phase 4 1134-47-0 2284
36
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 77-92-9 311
37 tannic acid Approved, Nutraceutical Phase 4
38 Anti-Bacterial Agents Phase 4,Phase 1,Phase 2,Not Applicable
39 Antibiotics, Antitubercular Phase 4,Phase 1,Phase 2,Not Applicable
40 Antifungal Agents Phase 4,Phase 1,Phase 2
41 Anti-Infective Agents Phase 4,Phase 2,Phase 1,Not Applicable
42 Immunosuppressive Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
43 Adrenergic Agents Phase 4,Phase 3,Phase 1,Not Applicable
44 Adrenergic Agonists Phase 4,Phase 3,Not Applicable
45 Adrenergic alpha-Agonists Phase 4,Phase 3,Not Applicable
46 Adrenergic beta-Agonists Phase 4,Not Applicable
47 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
48 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
49 Anti-Arrhythmia Agents Phase 4,Phase 1,Not Applicable
50 Anti-Asthmatic Agents Phase 4,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 660)
# Name Status NCT ID Phase Drugs
1 National,Multicentric Randomised Study of the Correction of Genital Prolapse With Fascial Repair or Mesh-Prolift Unknown status NCT00771225 Phase 4
2 Compare Sacrospinous Fixation Versus High Uterosacral Ligament Fixation for Uterus Vaginal Prolapse III/IV Unknown status NCT01347021 Phase 4
3 Surgical Treatment To Greater Anterior Vaginal Prolapse Unknown status NCT00676325 Phase 4
4 Comparative Study of Mesh Versus No Mesh in Prolapse Surgery Unknown status NCT00153257 Phase 4
5 HAL-RAR Versus Hemorrhoidectomy in the Treatment of Grade III-IV Hemorrhoids. Prospective, Randomized Trial Unknown status NCT02216305 Phase 4
6 Assessment of Stent Malapposition and Neointimal Coverage on Optical coHerence Tomography at Post-procedure and 3 Months After Platinum Chromium Alloy Of the Element™ Stent Implantation Unknown status NCT01581515 Phase 4
7 Relationship Between Initial Plaque Characteristics and Stent Surface Coverage Patterns Unknown status NCT01024179 Phase 4
8 Saline Injection - Assisted Anesthesia in Eyelid Surgery Unknown status NCT01239498 Phase 4
9 Outcomes of Anterior Colporrhaphy Versus Graft Reinforced Anterior Prolapse Repair Completed NCT00535301 Phase 4
10 Clinical Outcomes and Urodynamic Effects After Vaginal Tailored Mesh Surgery for Pelvic Organ Prolapse Completed NCT02178735 Phase 4
11 SIS Graft and Traditional Repair in Vaginal Wall Prolapse Completed NCT00827528 Phase 4
12 Study of Cytrix Use in Pelvic Floor Prolapse Treatment Completed NCT01244165 Phase 4
13 Comparison Between Transvaginal Mesh and Traditional Surgery for Pelvic Organ Prolapse Completed NCT00566917 Phase 4
14 Efficacy Study of Vaginal Mesh for Prolapse Completed NCT00475540 Phase 4
15 Efficacy Study of Vaginal Mesh for Anterior Prolapse Completed NCT00557882 Phase 4
16 Clinical Assessment of the Total Vaginal Mesh Technique for Treatment of Genital Prolapse Completed NCT00196495 Phase 4
17 IV Acetaminophen for Postoperative Pain After Pelvic Organ Prolapse Repair Completed NCT02155738 Phase 4 IV Acetaminophen;IV normal saline
18 Brow Lifting With Dysport Completed NCT01401803 Phase 4 Dysport
19 Posterior IVS Versus Sacrospinous Suspension in Vaginal Vault Prolapse Repair Completed NCT00153231 Phase 4
20 Efficacy of Aurosling in Frontalis Sling Suspension Surgery Completed NCT00753831 Phase 4
21 Improvement of Pain Following Robotic Sacrocolpopexy and Rectocele Repair for Pelvic Organ Prolapse Completed NCT02449915 Phase 4 Bupivacaine;Placebo
22 Local Infiltration Analgesia With Ropivacaine in Posterior Vaginal Wall Prolapse:a Randomized, Double-Blind Study Completed NCT00769054 Phase 4 Ropivacaine;Isotonic NaCl
23 Vaginal Estrogens Comparative Trial on Pelvic Organ Prolapse Patients Completed NCT03032848 Phase 4 Conjugated Estrogen;Promestriene;Estriol;Vaginal Moisturizer - Cream
24 Dilators for Dyspareunia Prevention Completed NCT01299363 Phase 4
25 Effect of Preoperative Estrogen Treatment on Connective Tissues of the Pelvic Floor Completed NCT01778985 Phase 4 Premarin
26 Pre-operative Bowel Preparation Prior to Minimally Invasive Sacral Colpopexy Completed NCT01805310 Phase 4
27 Nitrofurantoin Prophylaxis During Catheter-managed Acute Urinary Retention After Pelvic Reconstructive Surgery Completed NCT02727322 Phase 4 Nitrofurantoin;Placebo
28 Brow Enhancement Study Completed NCT01308593 Phase 4 Botox
29 Analgetic and Anxiolytic Effect of Preoperative Pregabalin Completed NCT00353704 Phase 4 pregabalin;Placebo;morphine
30 What Benefit With a New Stapler Device in the Surgical Treatment of Obstructed Defecation? Completed NCT00810745 Phase 4
31 Comparison of Burch Urethropexy and Mid-urethral Sling Performed Concomitantly With a Sacral Colpopexy Completed NCT00934999 Phase 4
32 Rizatriptan in Acute Treatment of Migraine in Patients With Unilateral Trigeminal-autonomic Symptoms. Completed NCT00753311 Phase 4 rizatriptan or placebo
33 Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections Completed NCT01599273 Phase 4 subconjunctival triamcinolone injection
34 A Randomized Controlled Study Comparing Three Single-incision Devices for Female Urinary Stress Incontinence Completed NCT00751088 Phase 4
35 NITI CAR27 (ColonRing) Compression Anastomosis in Colorectal Surgery Completed NCT01056913 Phase 4
36 Optimal Relaxation Technique for Laparotomies With Rocuronium Infusion Followed by Sugammadex Reversal Completed NCT01539044 Phase 4 Neostigmine, atropine;Sugammadex
37 Psychological Well-being, Recovery and Sexuality After Total and Subtotal Hysterectomy Completed NCT00876057 Phase 4
38 Vibration-Assisted Anaesthesia Completed NCT00793988 Phase 4
39 A Comparative Efficacy and Safety Study of Compound Carraghenates Cream With Mayinglong Musk Hemorrhoid Ointment in the Treatment of Hemorrhoids Completed NCT01881282 Phase 4 Carraghenates Cream;Mayinglong Musk Hemorrhoid Ointment
40 Safety and Efficacy of Lansoprazole in Patients With Reflux Disease Completed NCT01135368 Phase 4 Lansoprazole
41 Comparison of Two Treatments for Strabismus Correction: Botulinum Toxin A Associated to Surgery and Surgery Alone Completed NCT01460355 Phase 4 Botulinum Toxin Type A;saline solution
42 Investigation to Minimize Prolapse Recurrence of the Vagina Using Estrogen Recruiting NCT02431897 Phase 4 Conjugated Estrogens Cream;Placebo Cream
43 Gabapentin for Postop Pain After SSLF Recruiting NCT03123861 Phase 4 Gabapentin;Placebo oral capsule
44 ACell MatriStem Pelvic Floor Matrix Versus Native Tissue Repair, Comparative Study Recruiting NCT02021279 Phase 4
45 Value of Robotic Rectopexy for the Treatment of Complex Pelvic Floor Dysfunction Recruiting NCT01346436 Phase 4
46 Nitrofurantoin Administration for the Prevention of Short-Term Catheter Associated Urinary Tract Infection After Pelvic Surgery Recruiting NCT03287089 Phase 4 Nitrofurantoin 100 MG;Placebo Oral Tablet
47 Forehead Scars Following Mohs Micrographic Surgery and Reconstruction for Skin Cancer Recruiting NCT01459666 Phase 4 Dysport (abobotulinumtoxinA);Bacteriostatic 0.9% Sodium Chloride (vehicle)
48 Obstetrical Gel Use to Shorten Labor and Prevent Lower Genital Tract Trauma Recruiting NCT03518684 Phase 4 Natalis
49 Vessel Injury in Relation With Strut Thickness Assessed by OCT Recruiting NCT03026465 Phase 4
50 Cervical Ripening for Obese Women: A Randomized, Comparative Effectiveness Trial Recruiting NCT02639429 Phase 4 Vaginal Misoprostol

Search NIH Clinical Center for Ptosis

Cochrane evidence based reviews: blepharoptosis

Genetic Tests for Ptosis

Genetic tests related to Ptosis:

# Genetic test Affiliating Genes
1 Ptosis 29

Anatomical Context for Ptosis

MalaCards organs/tissues related to Ptosis:

41
Eye, Skin, Heart, Uterus, Cervix, Thyroid, Testes

Publications for Ptosis

Articles related to Ptosis:

(show top 50) (show all 516)
# Title Authors Year
1
Blepharochalasis: 'drooping eyelids that raised our eyebrows'. ( 29936417 )
2018
2
Tarsal buckle with conjunctival prolapse following levator plication for unilateral congenital ptosis. ( 29572371 )
2018
3
Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element. ( 29481440 )
2018
4
Determination of the Amount of Ptosis Correction in Levator Resection Surgery for Pediatric Congenital Ptosis. ( 29026970 )
2018
5
Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia. ( 28120463 )
2018
6
The Ophthalmology Surgical Competency Assessment Rubric (OSCAR) for anterior approach ptosis surgery. ( 29442541 )
2018
7
Frontalis Muscle Flap Versus Maximal Anterior Levator Resection as First Option for Patients With Severe Congenital Ptosis. ( 29659435 )
2018
8
Effects of MALAT1 on proliferation and apo- ptosis of human non-small cell lung cancer A549 cells in vitro and tumor xenograft growth in vivo by modulating autophagy. ( 29439314 )
2018
9
Evaluating the temperature effects of ice and heat tests on ptosis due to Myasthenia Gravis. ( 29743585 )
2018
10
Isolated bilateral abducens paralysis without ptosis in an anti-LDL receptor-related protein 4 antibody-positive patient treated effectively with steroid-pulse therapy. ( 29801905 )
2018
11
Subacute Progressive Ptosis, Ophthalmoplegia, Gait Instability, and Cognitive Changes. ( 29946691 )
2018
12
Improving Outcomes of Posterior Approach Levatorpexy for Congenital Ptosis With Reduced Levator Function. ( 29369150 )
2018
13
Orbital, eyelid, and nasopharyngeal silicone oil granuloma presenting as ptosis & pseudo-xanthelasma. ( 29978139 )
2018
14
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 29339661 )
2018
15
Small-incision levator resection for correction of congenital ptosis: a prospective study. ( 29744575 )
2018
16
Amblyopia, Strabismus and Refractive Errors in Congenital Ptosis: a systematic review and meta-analysis. ( 29844360 )
2018
17
Sudden-onset unilateral ptosis induced by pituitary Macroadenoma, with false-positive jolly and neostigmine tests. ( 29685009 )
2018
18
Comparing the outcomes of severe versus mild/moderate ptosis using closed posterior levator advancement. ( 29842810 )
2018
19
Brown Syndrome Following Upper Eyelid Ptosis Repair. ( 29467810 )
2018
20
Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency. ( 29378385 )
2018
21
Isolated unilateral ptosis as a presenting feature of midbrain infarction. ( 29437723 )
2018
22
Considerations on the Role of Algorithm-Based Levator Aponeurectomy in Small Incision External Ptosis Surgery for Involutional Ptosis-Reply. ( 29285528 )
2018
23
Open source modular ptosis crutch for the treatment of myasthenia gravis. ( 29271663 )
2018
24
Cervicothoracic epidural hematoma in a toddler with miosis, ptosis, nonspecific symptoms, and no history of major trauma: case report. ( 29396720 )
2018
25
SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss. ( 29315086 )
2018
26
Seeing more clearly despite the ptosis. ( 29655545 )
2018
27
Frontalis-Orbicularis Muscle Advancement for Correction of Upper Eyelid Ptosis: A Systematic Literature Review. ( 29958196 )
2018
28
Upper lid ptosis surgery: what is the optimal interval for the postoperative review? A retrospective review of 300 cases. ( 29328065 )
2018
29
Ptosis Sensitivity Threshold for the Lay Observer. ( 29905610 )
2018
30
New Ophthalmoplegia and Recurrent Ptosis After Ptosis Repair Surgery. ( 29879280 )
2018
31
Considerations on the Role of Algorithm-Based Levator Aponeurectomy in Small Incision External Ptosis Surgery for Involutional Ptosis. ( 29285535 )
2018
32
Heart Block, Ptosis, and Diagnostic Funduscopic Examination: Problems of the Heart Seen Through the Eyes. ( 29731029 )
2018
33
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. ( 29159890 )
2018
34
A study of changes in levator muscle in congenital ptosis. ( 29705893 )
2018
35
Surgical treatment of unilateral severe simple congenital ptosis. ( 29675342 )
2018
36
Ultrasound biomicroscopy image patterns in normal upper eyelid and congenital ptosis in the Indian population. ( 29480247 )
2018
37
Closed Posterior Levator Advancement in Severe Ptosis. ( 29922563 )
2018
38
A Novel Technique for the Prevention of Recurrent Eyebrow Ptosis After Brow Lift Surgery. ( 29944529 )
2018
39
A 37-Year-Old Woman with Progressive Right Side Ptosis for One Month. ( 29740946 )
2018
40
Use of Botulinum Toxin for the Correction of Mild Ptosis. ( 29657673 )
2018
41
Retrospective Analysis of the Effect of Hering Law on Outcomes of Surgical Correction of Ptosis. ( 28930783 )
2017
42
The Aesthetic Analyzing of Midface Ratio After Folding Aponeurosis of Levator Palpebrae Superioris Muscle in the Ptosis Correction. ( 29215440 )
2017
43
A Modified Levator Resection Technique Involving Retention of the Levator Palpebrae Superioris Muscle Suspension System for Treatment of Congenital Ptosis. ( 28378186 )
2017
44
Levator resection for congenital ptosis: Does pre-operative levator function or degree of ptosis affect successful outcome? ( 28696799 )
2017
45
Ptosis induced by topical steroid eye drops: Two cases reports. ( 29390490 )
2017
46
Early onset bilateral juvenile myasthenia gravis masquerading as simple congenital ptosis. ( 28293536 )
2017
47
The Relationship of Amount of Resection and Time for Recovery of Bell's Phenomenon after Levator Resection in Congenital Ptosis. ( 28584563 )
2017
48
Dacryoadenitis with Ptosis and Diplopia as the Initial Presentation of Granulomatosis with Polyangiitis. ( 28883246 )
2017
49
Re: "Conjunctiva-Sparing Posterior Ptosis Surgery: A Novel Approach". ( 28891921 )
2017
50
Combined Surgery for Simultaneous Treatment of Congenital Ptosis and Coexisting Strabismus. ( 28510774 )
2017

Variations for Ptosis

ClinVar genetic disease variations for Ptosis:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic rs118192177 GRCh37 Chromosome 19, 38986923: 38986923
2 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic rs118192177 GRCh38 Chromosome 19, 38496283: 38496283
3 SOS1 NM_005633.3(SOS1): c.1300G> A (p.Gly434Arg) single nucleotide variant Pathogenic rs397517148 GRCh37 Chromosome 2, 39250269: 39250269
4 SOS1 NM_005633.3(SOS1): c.1300G> A (p.Gly434Arg) single nucleotide variant Pathogenic rs397517148 GRCh38 Chromosome 2, 39023128: 39023128
5 OPA1 NM_015560.2(OPA1): c.113_130del18 (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 GRCh38 Chromosome 3, 193614803: 193614820
6 OPA1 NM_015560.2(OPA1): c.113_130del18 (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 GRCh37 Chromosome 3, 193332592: 193332609
7 IGHMBP2 NM_002180.2(IGHMBP2): c.92G> A (p.Trp31Ter) single nucleotide variant Pathogenic rs863224880 GRCh37 Chromosome 11, 68673542: 68673542
8 IGHMBP2 NM_002180.2(IGHMBP2): c.92G> A (p.Trp31Ter) single nucleotide variant Pathogenic rs863224880 GRCh38 Chromosome 11, 68906074: 68906074
9 46;XX;t(19;21)(q13.3;q22.3)dn Translocation Pathogenic
10 ANKRD11 NM_013275.5(ANKRD11): c.1903_1907delAAACA (p.Lys635Glnfs) deletion Pathogenic/Likely pathogenic rs886041125 GRCh37 Chromosome 16, 89351043: 89351047
11 ANKRD11 NM_013275.5(ANKRD11): c.1903_1907delAAACA (p.Lys635Glnfs) deletion Pathogenic/Likely pathogenic rs886041125 GRCh38 Chromosome 16, 89284635: 89284639
12 CHRND NM_000751.2(CHRND): c.822delT (p.Ser274Argfs) deletion Likely pathogenic rs1057518958 GRCh38 Chromosome 2, 232531353: 232531353
13 CHRND NM_000751.2(CHRND): c.822delT (p.Ser274Argfs) deletion Likely pathogenic rs1057518958 GRCh37 Chromosome 2, 233396063: 233396063
14 CHRND NM_000751.2(CHRND): c.1385G> T (p.Trp462Leu) single nucleotide variant Likely pathogenic rs1057518957 GRCh38 Chromosome 2, 232535143: 232535143
15 CHRND NM_000751.2(CHRND): c.1385G> T (p.Trp462Leu) single nucleotide variant Likely pathogenic rs1057518957 GRCh37 Chromosome 2, 233399853: 233399853
16 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Likely pathogenic rs201217593 GRCh37 Chromosome X, 31196064: 31196064
17 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Likely pathogenic rs201217593 GRCh38 Chromosome X, 31177947: 31177947
18 SYNGAP1 NM_006772.2(SYNGAP1): c.2059C> T (p.Arg687Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1060503383 GRCh37 Chromosome 6, 33409095: 33409095
19 SYNGAP1 NM_006772.2(SYNGAP1): c.2059C> T (p.Arg687Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1060503383 GRCh38 Chromosome 6, 33441318: 33441318
20 covers 13 genes, none of which curated to show dosage sensitivity GRCh37/hg19 15q13.2-13.3(chr15: 30366065-32899558) copy number gain Pathogenic GRCh37 Chromosome 15, 30366065: 32899558

Expression for Ptosis

Search GEO for disease gene expression data for Ptosis.

Pathways for Ptosis

Pathways related to Ptosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.08 SOS1 TUBB3 TUBB6
2 9.7 CHRND RYR1

GO Terms for Ptosis

Biological processes related to Ptosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 9.33 ANKRD11 FOXC2 FOXL2
2 muscle contraction GO:0006936 9.13 CHRND PABPN1 RYR1
3 eyelid development in camera-type eye GO:0061029 8.62 SOS1 TWIST1

Sources for Ptosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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