MCID: PTS002
MIFTS: 52

Ptosis

Categories: Eye diseases, Fetal diseases, Rare diseases

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:



External Ids:

Disease Ontology 12 DOID:0060260
ICD9CM 35 374.3 374.30
MeSH 44 D001763
NCIt 50 C27298
SNOMED-CT 68 11934000

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 marcus gunn phenomenon. 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 Miconazole and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and breast, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 76 Ptosis (from the Greek word �?�?ῶ�?ι�? "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 463)
# Related Disease Score Top Affiliating Genes
1 congenital ptosis 33.9 COL25A1 KIF21A RYR1 TUBB3 ZFHX4
2 marcus gunn phenomenon 32.9 CHAT TUBB3
3 blepharophimosis 32.5 FOXL2 TWIST1 UBE3B
4 epicanthus 32.2 ANKRD11 FOXL2 TWIST1 UBE3B
5 strabismus 30.7 KIF21A TUBB3 TWIST1
6 exotropia 30.0 KIF21A TUBB3
7 blepharophimosis, ptosis, and epicanthus inversus 12.6
8 blepharoptosis, myopia, and ectopia lentis 12.3
9 ptosis, hereditary congenital 1 12.3
10 intellectual developmental disorder with dysmorphic facies and ptosis 12.3
11 blepharophimosis with ptosis, syndactyly, and short stature 12.2
12 deafness, conductive, with ptosis and skeletal anomalies 12.2
13 facial palsy, congenital, with ptosis and velopharyngeal dysfunction 12.2
14 aniridia - ptosis - intellectual disability - familial obesity 12.2
15 ptosis, strabismus, and ectopic pupils 12.2
16 microbrachycephaly ptosis cleft lip 12.1
17 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.1
18 ptosis, hereditary congenital 2 12.0
19 charcot-marie-tooth disease with ptosis and parkinsonism 12.0
20 disproportionate short stature with ptosis and valvular heart lesions 12.0
21 vocal cord paralysis and ptosis 12.0
22 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia 12.0
23 ophthalmoplegia totalis with ptosis and miosis 11.9
24 mandibulofacial dysostosis with ptosis, autosomal dominant 11.9
25 congenital heart disease ptosis hypodontia craniostosis 11.9
26 optic atrophy opthalmoplegia ptosis deafness myopia 11.9
27 ptosis strabismus diastasis 11.9
28 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 11.9
29 metopic ridging-ptosis-facial dysmorphism syndrome 11.9
30 baraitser-winter syndrome 11.9
31 kaufman oculocerebrofacial syndrome 11.8
32 tucker syndrome 11.8
33 baraitser-winter syndrome 1 11.6
34 3mc syndrome 2 11.6
35 oculopharyngeal muscular dystrophy 11.5
36 fibrosis of extraocular muscles, congenital, 1 11.5
37 richieri-costa/guion-almeida syndrome 11.4
38 wandering spleen 11.4
39 jorgenson lenz syndrome 11.4
40 chronic progressive external ophthalmoplegia 11.4
41 bell's palsy 11.3
42 horner's syndrome 11.3
43 kearns-sayre syndrome 11.3
44 widow's peak 11.2
45 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 11.2
46 autosomal dominant optic atrophy plus syndrome 11.2
47 myasthenia gravis 11.2
48 3mc syndrome 3 11.2
49 ohdo syndrome 11.1
50 diabetic neuropathy 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 10.1 MUSK
2 Decreased viability GR00173-A 10.1 MUSK
3 Decreased viability GR00221-A-1 10.1 MUSK
4 Decreased viability GR00221-A-4 10.1 MUSK
5 Decreased viability GR00240-S-1 10.1 SOS1 TUBB3 TUBB6
6 Decreased viability GR00381-A-1 10.1 OPA1
7 Decreased viability GR00402-S-2 10.1 ANKRD11 BRPF1 CHAT CHRND COL25A1 FOXC2
8 no effect GR00402-S-1 9.62 ANKRD11 BRPF1 CHAT CHRND COL25A1 FOXC2

MGI Mouse Phenotypes related to Ptosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.27 ANKRD11 BRPF1 CHAT COL25A1 FOXC2 FOXL2
2 behavior/neurological MP:0005386 10.26 ANKRD11 BRPF1 CHAT COL25A1 IGHMBP2 MUSK
3 growth/size/body region MP:0005378 10.25 ANKRD11 BRPF1 CHAT FOXC2 FOXL2 IGHMBP2
4 homeostasis/metabolism MP:0005376 10.22 ANKRD11 BRPF1 CHAT COL25A1 FOXC2 FOXL2
5 cellular MP:0005384 10.2 BRPF1 COL25A1 IGHMBP2 MUSK OPA1 PABPN1
6 nervous system MP:0003631 10.03 BRPF1 CHAT COL25A1 FOXC2 IGHMBP2 MUSK
7 muscle MP:0005369 10.02 CHAT COL25A1 FOXC2 IGHMBP2 MUSK OPA1
8 respiratory system MP:0005388 9.7 CHAT COL25A1 FOXC2 IGHMBP2 MUSK RYR1
9 skeleton MP:0005390 9.56 ANKRD11 BRPF1 CHAT FOXC2 MUSK RYR1
10 vision/eye MP:0005391 9.17 ANKRD11 CHAT FOXC2 FOXL2 OPA1 SOS1

Drugs & Therapeutics for Ptosis

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

(show top 50) (show all 234)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 22916-47-8 4189
2
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 46835353 6436030 5284616
3
Everolimus Approved Phase 4 159351-69-6 6442177
4
Chromium Approved Phase 4 7440-47-3 27668
5
Acetylcholine Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 51-84-3 187
6
Epinephrine Approved, Vet_approved Phase 4,Not Applicable 51-43-4 5816
7
Lidocaine Approved, Vet_approved Phase 4,Phase 1,Not Applicable 137-58-6 3676
8
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 2180-92-9, 38396-39-3 2474
9
Racepinephrine Approved Phase 4,Not Applicable 329-65-7 838
10
Acetaminophen Approved Phase 4 103-90-2 1983
11
Silicon Approved, Investigational Phase 4,Not Applicable 7440-21-3 4082203
12
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
13
Magnesium citrate Approved Phase 4,Not Applicable 3344-18-1
14
Nitrofurantoin Approved, Vet_approved Phase 4,Not Applicable 67-20-9 5353830
15
Morphine Approved, Investigational Phase 4 57-27-2 5288826
16
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3 148553-50-8 5486971
17
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
18
Ibuprofen Approved Phase 4 15687-27-1 3672
19
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
20
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
21
Rizatriptan Approved Phase 4 145202-66-0, 144034-80-0 5078
22
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
23
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
24
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
25
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
26
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
27
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
28
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
29
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
30
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3 56-12-2 119
31
Glycerol Approved, Investigational Phase 4 56-81-5 753
32
Probucol Approved, Investigational Phase 4 23288-49-5 4912
33
Misoprostol Approved Phase 4 59122-46-2 5282381
34
Benzocaine Approved, Investigational Phase 4,Not Applicable 94-09-7, 1994-09-7 2337
35 tannic acid Approved Phase 4,Not Applicable
36
Baclofen Approved Phase 4 1134-47-0 2284
37
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 77-92-9 311
38
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 4 53-43-0 5881
39 Immunologic Factors Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
40 Immunosuppressive Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
41 Antibiotics, Antitubercular Phase 4,Phase 1,Phase 2,Not Applicable
42 Anti-Bacterial Agents Phase 4,Phase 1,Phase 2,Not Applicable
43 Antifungal Agents Phase 4,Phase 1,Phase 2
44 Anti-Infective Agents Phase 4,Phase 2,Phase 1,Not Applicable
45 Analgesics, Non-Narcotic Phase 4,Phase 3,Not Applicable
46 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
47 Analgesics Phase 4,Phase 3,Not Applicable
48 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
49 abobotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
50 onabotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 717)
# 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 Vaginal Estriol Before and Vaginal Surgery for Prolapse Unknown status NCT02906111 Phase 4 estriol
5 Comparative Study of Mesh Versus No Mesh in Prolapse Surgery Unknown status NCT00153257 Phase 4
6 HAL-RAR Versus Hemorrhoidectomy in the Treatment of Grade III-IV Hemorrhoids. Prospective, Randomized Trial Unknown status NCT02216305 Phase 4
7 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
8 Relationship Between Initial Plaque Characteristics and Stent Surface Coverage Patterns Unknown status NCT01024179 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 Ice T Postoperative Multimodal Pain Regimen in FPMRS Surgery Completed NCT03052816 Phase 4 Ice T;Motrin/Percocet/Dilaudid for breakthrough
32 Comparison of Burch Urethropexy and Mid-urethral Sling Performed Concomitantly With a Sacral Colpopexy Completed NCT00934999 Phase 4
33 Rizatriptan in Acute Treatment of Migraine in Patients With Unilateral Trigeminal-autonomic Symptoms. Completed NCT00753311 Phase 4 rizatriptan or placebo
34 Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections Completed NCT01599273 Phase 4 subconjunctival triamcinolone injection
35 A Randomized Controlled Study Comparing Three Single-incision Devices for Female Urinary Stress Incontinence Completed NCT00751088 Phase 4
36 NITI CAR27 (ColonRing) Compression Anastomosis in Colorectal Surgery Completed NCT01056913 Phase 4
37 Optimal Relaxation Technique for Laparotomies With Rocuronium Infusion Followed by Sugammadex Reversal Completed NCT01539044 Phase 4 Neostigmine, atropine;Sugammadex
38 Psychological Well-being, Recovery and Sexuality After Total and Subtotal Hysterectomy Completed NCT00876057 Phase 4
39 Vibration-Assisted Anaesthesia Completed NCT00793988 Phase 4
40 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
41 Safety and Efficacy of Lansoprazole in Patients With Reflux Disease Completed NCT01135368 Phase 4 Lansoprazole
42 Preoperative Oestrogen in Postmenopausal Women With Pelvic Organ Prolapse Recruiting NCT03779633 Phase 4 Linoladiol Estradiol
43 Investigation to Minimize Prolapse Recurrence of the Vagina Using Estrogen Recruiting NCT02431897 Phase 4 Conjugated Estrogens Cream;Placebo Cream
44 Gabapentin for Postop Pain After SSLF Recruiting NCT03123861 Phase 4 Gabapentin;Placebo oral capsule
45 Hormonal Status on Blood Flow and Tissue in Pelvic Organ Prolapse Recruiting NCT01886794 Phase 4 Postmenopausal, topical vaginal cream;Placebo Comparator: Postmenopausal, topical placebo cream
46 ACell MatriStem Pelvic Floor Matrix Versus Native Tissue Repair, Comparative Study Recruiting NCT02021279 Phase 4
47 Pudendal Block Using Liposomal Bupivacaine vs. Standard Treatment During Sacrospinous Ligament Fixation Recruiting NCT03664986 Phase 4 Liposomal Bupivacaine
48 Value of Robotic Rectopexy for the Treatment of Complex Pelvic Floor Dysfunction Recruiting NCT01346436 Phase 4
49 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
50 Forehead Scars Following Mohs Micrographic Surgery and Reconstruction for Skin Cancer Recruiting NCT01459666 Phase 4 Dysport (abobotulinumtoxinA);Bacteriostatic 0.9% Sodium Chloride (vehicle)

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, Testes, Breast, Skin, Pituitary, Heart, Lung

Publications for Ptosis

Articles related to Ptosis:

(show top 50) (show all 1705)
# Title Authors Year
1
Tarsal buckle with conjunctival prolapse following levator plication for unilateral congenital ptosis. ( 29572371 )
2018
2
Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element. ( 29481440 )
2018
3
Determination of the Amount of Ptosis Correction in Levator Resection Surgery for Pediatric Congenital Ptosis. ( 29026970 )
2018
4
Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia. ( 28120463 )
2018
5
The Ophthalmology Surgical Competency Assessment Rubric (OSCAR) for anterior approach ptosis surgery. ( 29442541 )
2018
6
Frontalis Muscle Flap Versus Maximal Anterior Levator Resection as First Option for Patients With Severe Congenital Ptosis. ( 29659435 )
2018
7
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
8
Evaluating the temperature effects of ice and heat tests on ptosis due to Myasthenia Gravis. ( 29743585 )
2018
9
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
10
Subacute Progressive Ptosis, Ophthalmoplegia, Gait Instability, and Cognitive Changes. ( 29946691 )
2018
11
Improving Outcomes of Posterior Approach Levatorpexy for Congenital Ptosis With Reduced Levator Function. ( 29369150 )
2018
12
Orbital, eyelid, and nasopharyngeal silicone oil granuloma presenting as ptosis & pseudo-xanthelasma. ( 29978139 )
2018
13
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 29339661 )
2018
14
Small-incision levator resection for correction of congenital ptosis: a prospective study. ( 29744575 )
2018
15
Amblyopia, Strabismus and Refractive Errors in Congenital Ptosis: a systematic review and meta-analysis. ( 29844360 )
2018
16
Sudden-onset unilateral ptosis induced by pituitary Macroadenoma, with false-positive jolly and neostigmine tests. ( 29685009 )
2018
17
Comparing the outcomes of severe versus mild/moderate ptosis using closed posterior levator advancement. ( 29842810 )
2018
18
Brown Syndrome Following Upper Eyelid Ptosis Repair. ( 29467810 )
2018
19
Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency. ( 29378385 )
2018
20
Isolated unilateral ptosis as a presenting feature of midbrain infarction. ( 29437723 )
2018
21
Considerations on the Role of Algorithm-Based Levator Aponeurectomy in Small Incision External Ptosis Surgery for Involutional Ptosis-Reply. ( 29285528 )
2018
22
Open source modular ptosis crutch for the treatment of myasthenia gravis. ( 29271663 )
2018
23
Cervicothoracic epidural hematoma in a toddler with miosis, ptosis, nonspecific symptoms, and no history of major trauma: case report. ( 29396720 )
2018
24
SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss. ( 29315086 )
2018
25
Seeing more clearly despite the ptosis. ( 29655545 )
2018
26
Frontalis-Orbicularis Muscle Advancement for Correction of Upper Eyelid Ptosis: A Systematic Literature Review. ( 29958196 )
2018
27
Upper lid ptosis surgery: what is the optimal interval for the postoperative review? A retrospective review of 300 cases. ( 29328065 )
2018
28
Ptosis Sensitivity Threshold for the Lay Observer. ( 29905610 )
2018
29
New Ophthalmoplegia and Recurrent Ptosis After Ptosis Repair Surgery. ( 29879280 )
2018
30
Considerations on the Role of Algorithm-Based Levator Aponeurectomy in Small Incision External Ptosis Surgery for Involutional Ptosis. ( 29285535 )
2018
31
Heart Block, Ptosis, and Diagnostic Funduscopic Examination: Problems of the Heart Seen Through the Eyes. ( 29731029 )
2018
32
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. ( 29159890 )
2018
33
A study of changes in levator muscle in congenital ptosis. ( 29705893 )
2018
34
Surgical treatment of unilateral severe simple congenital ptosis. ( 29675342 )
2018
35
Ultrasound biomicroscopy image patterns in normal upper eyelid and congenital ptosis in the Indian population. ( 29480247 )
2018
36
Closed Posterior Levator Advancement in Severe Ptosis. ( 29922563 )
2018
37
A Novel Technique for the Prevention of Recurrent Eyebrow Ptosis After Brow Lift Surgery. ( 29944529 )
2018
38
Factors related to amblyopia in congenital ptosis after frontalis sling surgery. ( 30463547 )
2018
39
Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome. ( 30029625 )
2018
40
Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 30234390 )
2018
41
Genomic Disruption of FOXL2 in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2: A Novel Deletion-Insertion Compound Mutation. ( 30246734 )
2018
42
Intraoperative lagophthalmos formula for levator resection in congenital ptosis. ( 30049800 )
2018
43
Surgical treatment of severe congenital ptosis using deep temporal fascia. ( 30325240 )
2018
44
Modified Combined Fascia Sheath and Levator Muscle Complex Suspension With Müller Muscle Preservation on Treating Severe Congenital Ptosis. ( 30325839 )
2018
45
Synchronous Surgical Treatment of Lower Eyelid Involutional Entropion and Ptosis. ( 30534454 )
2018
46
Conjunctival Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss) in a Young Adult Male With Persistent Ptosis. ( 30048387 )
2018
47
Pediatric Ophthalmoplegia and Ptosis in Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy. ( 30180241 )
2018
48
Trigeminal hypertrophic interstitial neuropathy presenting as unilateral proptosis, ptosis, tearing, and facial neuralgia. ( 30302419 )
2018
49
Supero-medial reduction mammaplasty: a safe and reliable technique in gigantomastia and severe breast ptosis. ( 30214706 )
2018
50
A case of headache, double vision and ptosis in emergency department: Tolosa-Hunt syndrome. ( 30191197 )
2018

Variations for Ptosis

ClinVar genetic disease variations for Ptosis:

6 (show all 19)
# 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 ANKRD11 NM_013275.5(ANKRD11): c.1903_1907delAAACA (p.Lys635Glnfs) deletion Pathogenic/Likely pathogenic rs886041125 GRCh37 Chromosome 16, 89351043: 89351047
10 ANKRD11 NM_013275.5(ANKRD11): c.1903_1907delAAACA (p.Lys635Glnfs) deletion Pathogenic/Likely pathogenic rs886041125 GRCh38 Chromosome 16, 89284635: 89284639
11 CHRND NM_000751.2(CHRND): c.822delT (p.Ser274Argfs) deletion Likely pathogenic rs1057518958 GRCh38 Chromosome 2, 232531353: 232531353
12 CHRND NM_000751.2(CHRND): c.822delT (p.Ser274Argfs) deletion Likely pathogenic rs1057518958 GRCh37 Chromosome 2, 233396063: 233396063
13 CHRND NM_000751.2(CHRND): c.1385G> T (p.Trp462Leu) single nucleotide variant Likely pathogenic rs1057518957 GRCh38 Chromosome 2, 232535143: 232535143
14 CHRND NM_000751.2(CHRND): c.1385G> T (p.Trp462Leu) single nucleotide variant Likely pathogenic rs1057518957 GRCh37 Chromosome 2, 233399853: 233399853
15 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Likely pathogenic rs201217593 GRCh37 Chromosome X, 31196064: 31196064
16 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Likely pathogenic rs201217593 GRCh38 Chromosome X, 31177947: 31177947
17 SYNGAP1 NM_006772.2(SYNGAP1): c.2059C> T (p.Arg687Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1060503383 GRCh37 Chromosome 6, 33409095: 33409095
18 SYNGAP1 NM_006772.2(SYNGAP1): c.2059C> T (p.Arg687Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1060503383 GRCh38 Chromosome 6, 33441318: 33441318
19 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 muscle contraction GO:0006936 9.13 CHRND PABPN1 RYR1
2 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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