Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: PTS002
MIFTS: 52

Ptosis

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
Sources

Aliases & Classifications for Ptosis

About this section

MalaCards integrated aliases for Ptosis:

Name: Ptosis 12 74 29 6 15 71
Blepharoptosis 12 54 44
Drooping Eyelid 12

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0060260
ICD9CM 34 374.3
MeSH 44 D001763
NCIt 50 C27298
SNOMED-CT 67 204197004
ICD10 32 H02.4
UMLS 71 C0005745 C0033377
Sources

Summaries for Ptosis

About this section
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 SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Pilocytic astrocytoma. The drugs Acetylcholine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include breast, eye and pituitary, and related phenotypes are growth/size/body region and mortality/aging

Wikipedia : 74 Ptosis (from the Greek word πτῶσις "falling", "a fall", "dropped") refers to droopiness of a body part.... more...

Sources

Related Diseases for Ptosis

About this section

Diseases in the Ptosis family:

Ptosis, Hereditary Congenital 1 Ptosis, Hereditary Congenital 2
Congenital Ptosis Rare Disorder with Ptosis

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

(show top 50) (show all 851)
# Related Disease Score Top Affiliating Genes
1 congenital ptosis 33.1 ZFHX4 TUBB6 RYR1 FOXL2
2 marcus gunn phenomenon 32.5 ZFHX4 FOXL2
3 multiple pterygium syndrome, escobar variant 32.0 RYR1 DMD CHRND
4 noonan syndrome-like disorder with loose anagen hair 31.7 SOS1 PTPN11
5 noonan syndrome-like disorder with loose anagen hair 2 31.5 SOS1 PTPN11
6 noonan syndrome with multiple lentigines 31.3 SYNGAP1 SOS1 PTPN11
7 cardiofaciocutaneous syndrome 1 31.3 SYNGAP1 SOS1 PTPN11
8 myasthenic syndrome, congenital, 1a, slow-channel 31.1 TCF20 CHRND
9 duane retraction syndrome 30.6 ZFHX4 TUBB6 FOXL2
10 pectus excavatum 30.0 TCF20 PTPN11 DMD
11 muscular disease 30.0 RYR1 PABPN1 DMD
12 congenital myasthenic syndrome 30.0 RYR1 MUSK GLI3 CHRND
13 neuromuscular disease 29.8 RYR1 PABPN1 MUSK IGHMBP2 DMD CHRND
14 respiratory failure 29.7 RYR1 MUSK IGHMBP2 DMD
15 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 29.6 TCF20 CHRFAM7A BRPF1 ANKRD11
16 cryptorchidism, unilateral or bilateral 29.4 SOS1 PTPN11 GLI3 CHRND ANKRD11
17 blepharophimosis, ptosis, and epicanthus inversus 11.8
18 blepharoptosis, myopia, and ectopia lentis 11.5
19 kaufman oculocerebrofacial syndrome 11.4
20 intellectual developmental disorder with dysmorphic facies and ptosis 11.4
21 ptosis, hereditary congenital 1 11.4
22 baraitser-winter syndrome 11.4
23 deafness, conductive, with ptosis and skeletal anomalies 11.4
24 vocal cord paralysis and ptosis 11.3
25 facial palsy, congenital, with ptosis and velopharyngeal dysfunction 11.3
26 blepharophimosis with ptosis, syndactyly, and short stature 11.3
27 baraitser-winter syndrome 1 11.3
28 ptosis, strabismus, and ectopic pupils 11.3
29 aniridia - ptosis - intellectual disability - familial obesity 11.3
30 ptosis, hereditary congenital 2 11.2
31 3mc syndrome 11.2
32 microbrachycephaly ptosis cleft lip 11.2
33 oculopharyngeal muscular dystrophy 11.2
34 richieri-costa/guion-almeida syndrome 11.1
35 sphingosine phosphate lyase insufficiency syndrome 11.1
36 kearns-sayre syndrome 11.0
37 chronic progressive external ophthalmoplegia 11.0
38 horner's syndrome 11.0
39 3mc syndrome 3 11.0
40 fibrosis of extraocular muscles, congenital, 1 11.0
41 lymphedema-distichiasis syndrome 11.0
42 myasthenia gravis 11.0
43 epicanthus 11.0
44 3mc syndrome 2 11.0
45 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 11.0
46 charcot-marie-tooth disease with ptosis and parkinsonism 11.0
47 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia 11.0
48 jorgenson lenz syndrome 11.0
49 saethre-chotzen syndrome 11.0
50 lateral meningocele syndrome 11.0

Graphical network of the top 20 diseases related to Ptosis:



Diseases related to Ptosis
Sources

Symptoms & Phenotypes for Ptosis

About this section

MGI Mouse Phenotypes related to Ptosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 ANKRD11 BRPF1 DMD FOXL2 GLI3 IGHMBP2
2 mortality/aging MP:0010768 10 ANKRD11 BRPF1 DMD FOXL2 GLI3 IGHMBP2
3 muscle MP:0005369 9.5 DMD IGHMBP2 MUSK PABPN1 PTPN11 RYR1
4 skeleton MP:0005390 9.32 ANKRD11 BRPF1 DMD GLI3 IGHMBP2 MUSK
Sources

Drugs & Therapeutics for Ptosis

About this section

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
4 Respiratory System Agents Phase 4
5 Anti-Asthmatic Agents Phase 4
6 Anti-Arrhythmia Agents Phase 4
7 Sodium Channel Blockers Phase 4
8 Adrenergic beta-Agonists Phase 4
9 Mydriatics Phase 4
10 Diuretics, Potassium Sparing Phase 4
11 Sympathomimetics Phase 4
12 Vasoconstrictor Agents Phase 4
13 Bronchodilator Agents Phase 4
14 abobotulinumtoxinA Phase 4
15 Botulinum Toxins, Type A Phase 4
16 Neurotransmitter Agents Phase 4
17 Botulinum Toxins Phase 4
18 Pharmaceutical Solutions Phase 4
19 Cholinergic Agents Phase 4
20 Anesthetics Phase 4
21 Adrenergic alpha-Agonists Phase 4
22 Adrenergic Agents Phase 4
23 Adrenergic Agonists Phase 4
24 Ophthalmic Solutions Phase 4
25 Antihypertensive Agents Phase 4
26 Brimonidine Tartrate Phase 4 70359-46-5
27
Fluorouracil Approved Phase 3 51-21-8 3385
28
Phenylephrine Approved Phase 3 59-42-7 6041
29
Oxymetazoline Approved, Investigational Phase 3 1491-59-4 4636
30
Ephedrine Approved Phase 3 299-42-3 9294
31
Pseudoephedrine Approved Phase 3 90-82-4 7028
32
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
33
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
34
Bupivacaine Approved, Investigational Phase 2, Phase 3 38396-39-3, 2180-92-9 2474
35 Immunosuppressive Agents Phase 3
36 Immunologic Factors Phase 3
37 Antimetabolites Phase 3
38 Protective Agents Phase 3
39 Cardiotonic Agents Phase 3
40 Nasal Decongestants Phase 3
41 Epinephryl borate Phase 2, Phase 3
42 Anesthetics, Local Phase 2, Phase 3
43
Iron Approved 7439-89-6 23925 29936
44
Ropivacaine Approved 84057-95-4 71273 175805
45 Hemostatics
46 Fibrin Tissue Adhesive
47 Coagulants

Interventional clinical trials:

(show top 50) (show all 61)
# Name Status NCT ID Phase Drugs
1 Saline Injection - Assisted Anesthesia in Eyelid Surgery Unknown status NCT01239498 Phase 4
2 Surgery Associated to Intraoperative Botulinum Toxin A for Large Angle Horizontal Strabismus: a Pilot Study Completed NCT01460355 Phase 4 Botulinum Toxin Type A;saline solution
3 Brow Lifting With Dysport Completed NCT01401803 Phase 4 Dysport
4 Randomized, Double Blind, Active Controlled Study of the Efficacy, Surgical Outcome and Complications of Silicone Rod Sling in Frontalis Sling Suspension Surgery Completed NCT00753831 Phase 4
5 Investigation Into Brow Aesthetics Using Botox in Conjunction With Juvederm Ultra XC as Evaluated by Patient Satisfaction Completed NCT01308593 Phase 4 Botox
6 The Effect of Lumify™ (Brimonidine Tartrate Ophthalmic Solution 0.025%) on Palpebral Fissure Height Completed NCT03782701 Phase 4 brimonidine tartrate ophthalmic solution 0.025%
7 Vibration-Assisted Anaesthesia: A Randomised Controlled Trial to Investigate Whether Vibration Reduces the Pain of Anaesthetic Injection in Eyelid Surgery Completed NCT00793988 Phase 4
8 The Role of 5-Fluorouracil in Post-Operative Scar Formation Following Direct Brow Ptosis Repair Unknown status NCT03219580 Phase 3 5-Fluorouracil;Normal Saline Flush, 0.9% Injectable Solution
9 A Randomized, Double-Masked, Placebo-Controlled Phase 3 Study of the Safety and Efficacy of RVL-1201 in the Treatment of Acquired Blepharoptosis Completed NCT03565887 Phase 3 RVL-1201
10 A Randomized, Double-Masked, Placebo-Controlled Phase 3 Study of the Safety of RVL-1201 in the Treatment of Acquired Blepharoptosis (Study RVL-1201-203) Completed NCT03536949 Phase 3 RVL-1201
11 A Randomized, Double-Masked, Placebo-Controlled Phase 3 Study of the Safety and Efficacy of RVL-1201 in the Treatment of Acquired Blepharoptosis Completed NCT02436759 Phase 3 RVL-1201;RVL-1201 Vehicle Placebo
12 Effect of Pectoral Electrostimulation on Reduction of Mammary Ptosis After Bariatric Surgery Completed NCT02434419 Phase 3
13 Bupivacaine Injection of Eye Muscles to Treat Strabismus Recruiting NCT01616108 Phase 2, Phase 3 Bupivacaine
14 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Terminated NCT02878694 Phase 2, Phase 3
15 ASIS for Botox in Chronic Migraine Unknown status NCT02074163 Phase 1, Phase 2 Gadolinium;Gadolinium;Efficacy of Botox intramuscularly at Week 6;Efficacy of Botox intramuscularly at Week 12;Efficacy of Botox intramuscularly at Week 18;Efficacy of Botox intramuscularly at Week 24,;Efficacy of Botox intramuscularly at Week 30;Efficacy of Botox subdermally at Week 6;Efficacy of Botox subdermally at Week 12;Efficacy of Botox subdermally at Week 18;Efficacy of Botox subdermally at Week 24;Efficacy of Botox subdermally at Week 30;Adverse Reactions of Botox intramuscularly;Adverse Reactions of Botox subdermally
16 ASIS for Botox in Upper Limb Spasticity Unknown status NCT02074150 Phase 1, Phase 2 Gadolinium;Gadolinium;Gadolinium;Efficacy of Botox intramuscularly at Week 6;Efficacy of Botox intramuscularly at Week 12,;Efficacy of Botox intramuscularly at Week 18;Efficacy of Botox intramuscularly at Week 24;Efficacy of Botox intramuscularly at Week 30;Efficacy of Botox subdermally at Week 6;Efficacy of Botox subdermally at Week 12;Efficacy of Botox subdermally at Week 18;Efficacy of Botox subdermally at Week 24;Efficacy of Botox subdermally at Week 30;Adverse Reactions of Botox intramuscularly;Adverse Reactions of Botox subdermally
17 ASIS for Botox in Cervical Dystonia Unknown status NCT02074293 Phase 1, Phase 2 Gadolinium;Gadolinium;Gadolinium;Efficacy of Botox intramuscularly at Week 6;Efficacy of Botox intramuscularly at Week 12;Efficacy of Botox intramuscularly at Week 18;Efficacy of Botox intramuscularly at Week 24;Efficacy of Botox intramuscularly at Week 30;Efficacy of Botox subdermally at Week 6;Efficacy of Botox subdermally at Week 12;Efficacy of Botox subdermally at Week 18;Efficacy of Botox subdermally at Week 24;Efficacy of Botox subdermally at Week 30;Adverse Reactions of Botox intramuscularly;Adverse Reactions of Botox subdermally
18 A Phase 2, Randomized, Double-masked, Placebo-controlled Study of XOPH5 Ointment for Reduction of Lower Lid Steatoblepharon Completed NCT02230761 Phase 2 XOPH5 Ointment;Placebo
19 A Randomized, Double-Masked, Placebo-Controlled Phase 1/2a Study of the Efficacy and Safety of Two Dosing Regimens of RVL-1201 in the Treatment of Acquired Blepharoptosis Completed NCT01848041 Phase 1, Phase 2 RVL-1201;RVL-1201 Vehicle Placebo
20 Improving Epiphora & Ptosis With Bupivacaine Suspended NCT03266081 Phase 2 0.75% bupivacaine
21 Quantitative Evaluation of Levator Palpebra Muscle Strength Unknown status NCT02226016
22 Modified Müller's Muscle-conjunctival Resection Internal Ptosis Repair Using Fibrin Glue Unknown status NCT03392272
23 The Role of Bandage Contact Lens in Post-operative Patients Undergoing Fasanella Servat Ptosis Repair Unknown status NCT03375879
24 Study for the Evaluation of the Efficiency of a Device for the Diagnosis of an Internal Rectal Prolapse, a Pelvic Floor Ptosis and for the Determination of an Internal Hernia Into the Douglas Pouch Unknown status NCT00836680
25 A Real-time Magnetic Device Prototype for Management of Blepharoptosis Unknown status NCT03812016
26 Comparison Between Three Different Surgeries for Blepharoptosis Repair and Their Impact on Dry Eye Status Unknown status NCT02501187
27 Comparison Between Different Surgical Approaches for the Treatment of INVOLUTIONAL PTOSIS Unknown status NCT03373812
28 Astigmatic Corneal Changes Secondary to Eyelid Surgery Unknown status NCT01968174
29 Assessment of Changes of Periocular Skin Sensation Following Eyelid and Ocular Surface Surgeries Unknown status NCT02638610
30 A Novel Treatment Using Neuromuscular Electrical Stimulation to Improve Eyelid Function in Patients With CN III and CN VII Palsy. Unknown status NCT03239418
31 Fixed Versus Adjustable Sutures in Management of Blepheroptosis Unknown status NCT03149367
32 Müller's Muscle as a New Proprioceptive Organ Evidence From Immunohistochemical Staining and Electron Microscopy to Verify That the Upper Eyelid Müller's Muscle Contains Proprioceptive Innervation for Reflexive Correction of Eyelid Position Unknown status NCT03396627
33 Evaluation of Intraoperative Lagophthalmos Formula for Levator Resection in Congenital Ptosis on Egyptian Patients Completed NCT04291625
34 Preoperative and Intraoperative Factors Related to the Development of Ptosis After Retinal Surgery Completed NCT01752478
35 Comparison of Effectiveness and Safety of Eye Fixation Types During Combined Glaucoma Procedures Completed NCT03797846
36 Laser Fluorescent Imaging of Nipple and Areola During Breast Lift in Combination With Breast Implants Completed NCT02201979
37 Comparison of Postoperative Pain With Two Different Types of Local Anesthesia in Surgery for a Drooping Eyelid Completed NCT01350024
38 Comparative Study of Eyelid Position Interdependence in Involutional Ptosis Patients Submitted to 1, 2 or 4 Drops of 10% Phenylephrine Completed NCT00864656
39 Standard Levator Aponeurosis / Muscle Resection With Three Point Fixation Versus Two Point Fixation Tucking for Congenital Ptosis With Fair to Good Levator Function Completed NCT03240107
40 Comparison Between Clinical Measurements and Computer-based Measurements on Digital Photographs to Evaluate Blepharoptosis Completed NCT02367677
41 Evaluation of Polytetrafluoroethylene (Ptose-up) in Management of Severe Congenital Blepharoptosis Completed NCT04214379
42 Non-surgical Correction of Eye Lid Paralysis With External Magnet Systems Completed NCT02988856
43 Photographic Assessment of Eyebrow Position and Range of Motion Completed NCT00347308
44 Seri Surgical Scaffold (TM) Support of the Lower Pole of the Breasts in Augmentation Mastopexy or Breast Reduction Patients Completed NCT02016612
45 Evaluation of the Ulthera® System for Lifting of the Buttock Completed NCT02270892
46 Evaluation of the Ulthera® System for Obtaining Lift and Tightening of the Brachia Completed NCT01713933
47 A Prospective, Randomized Study to Evaluate Dermal Closure With an Absorbable Barbed Suture (V-Loc 180 Absorbable Wound Closure Device or V-Loc 90 Absorbable Wound Closure Device) as Compared to a Conventional Absorbable Suture Completed NCT00959374
48 Clinical Significance of Whitnall Ligament Structure in Patients With Congenital Ptosis Recruiting NCT04537169
49 Subconjunctival Injection of Local Anesthetic in Anterior Blepharoptosis Repair Recruiting NCT02959697 Subcut. + Subconj. Xylocaine;Subcut. + Sham Subconj. Injection
50 Clinical Trial to Improve the Magnetic Levator Prosthesis (MLP) Including the Development and Testing of a Novel Adjustable Force System Recruiting NCT03818204

Search NIH Clinical Center for Ptosis

Cochrane evidence based reviews: blepharoptosis

Sources

Genetic Tests for Ptosis

About this section

Genetic tests related to Ptosis:

# Genetic test Affiliating Genes
1 Ptosis 29
Sources

Anatomical Context for Ptosis

About this section

MalaCards organs/tissues related to Ptosis:

40
Breast, Eye, Pituitary, Skin, Brain, Thyroid, Kidney
Sources

Publications for Ptosis

About this section

Articles related to Ptosis:

(show top 50) (show all 10308)
# Title Authors PMID Year
1
Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman. 61 54
15725589 2005
2
[Familial chronic progressive blepharoptosis without other neurological symptoms: a new clinical entity?]. 54 61
12355844 2002
3
Metastases of systemic malignancies to the orbit: a major review. 61
32340504 2021
4
Dysphagia and Dysphonia, a Pairing of Symptoms Caused by an Unusual Pair of Diseases: Castleman's Disease and Myasthenia Gravis. 61
32812444 2021
5
Scleral Lenses Versus Surgery for Ptosis in Progressive External Ophthalmoplegia Plus Respectively Kearns-Sayre Syndrome. 61
32868565 2021
6
Conjunctival Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss) in a Young Adult Male With Persistent Ptosis. 61
30048387 2021
7
Neurovascular compression of the oculomotor nerve presenting with aberrant reinnervation. 61
33426366 2021
8
Neuro-Ophthalmologic Features and Outcomes of Thalamic Infarction: A Single-Institutional 10-Year Experience. 61
31851027 2021
9
A Rare Case of Oculomotor Nerve Palsy after Endovascular Treatment in a Patient with Internal Carotid Artery Dissection. 61
33360510 2021
10
Role of Orbicular Oculi Muscle Resection in Double Eyelid Surgery to Correct Ptosis of Young Adults: A Retrospective Review in 121 Chinese Patients. 61
32881745 2021
11
A Modified Technique Using Levator Aponeurosis-Muller Muscle-Reinforced Plication for Blepharoptosis Correction. 61
32756253 2021
12
Immune Checkpoint Inhibitor-Induced Ptosis in a Patient With Prostate Cancer. 61
32235233 2021
13
Literature Commentary. 61
33496532 2021
14
Severe Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses: Response. 61
32868563 2021
15
Levator palpebrae superioris myositis: An uncommon cause of ptosis. 61
33364451 2021
16
Risk for generalization in ocular onset myasthenia gravis: experience from a neuro-ophthalmology clinic. 61
33544334 2021
17
Amblyopia and Refractive Status in Congenital Ptosis: The Effect and Timing of Surgical Correction. 61
33538502 2021
18
Referral outcomes from a vision screening program for school-aged children. 61
32771327 2021
19
Primary marginal zone B-cell lymphoma of the cavernous sinus: a case report and review of the literature. 61
33579209 2021
20
Circumferential Lipobrachioplasty Is a Safe Procedure. 61
33565824 2021
21
Bilateral Ptosis and Ophthalmoplegia in a Young Man. 61
33270091 2021
22
Progressive midbrain clefts after head trauma and decompressive surgery: a report of two patients. 61
33526531 2021
23
An incomplete form of anti-ganglioside antibody-positive Miller Fisher syndrome after an Epstein-Barr virus infection: A case report. 61
33592894 2021
24
Surgery as a safe and effective treatment option for spheno-orbital meningioma: a systematic review and meta-analysis of surgical techniques and outcomes. 61
32602264 2021
25
Cavernous Sinus Thrombosis related to Orbital Cellulitis Serious Complication to Prevent: a case report and literature review. 61
33532066 2021
26
Emergence of myasthenia gravis in dengue infection-first case report. 61
33528825 2021
27
Efficacy and predictability of Muller's muscle-conjunctival resection with different tarsectomy lengths for unilateral blepharoptosis treatment. 61
33579223 2021
28
High-resolution magnetic resonance imaging in isolated, traumatic oculomotor nerve palsy: A case report. 61
33343777 2021
29
Histological and ultrasonographic alterations in skin and soft tissue in upper eyelid excised blepharoplasty due to ipsilateral eyebrow tattooing: (preliminary findings). 61
33605025 2021
30
Reconstruction of full width, full thickness cicatricial eyelid defect after eyelid blastomycosis using a modified tarsoconjunctival flap advancement. 61
33583316 2021
31
Recognising meibomian gland inversion in patients with facial palsy to improve the ocular surface. 61
31893955 2021
32
Consecutive Bilateral Breast Reconstruction Using Stacked Abdominally Based and Posterior Thigh Free Flaps. 61
33165290 2021
33
An impaired pupillary light reflex indices in Orbital Apex Syndrome - A rare case report. 61
33551108 2021
34
Safety of combining cosmetic injectables with radiofrequency microneedling: A 4.5-year review. 61
33522699 2021
35
Management of conjunctival melanoma with local excision and adjuvant brachytherapy. 61
32332870 2021
36
Invited Discussion on: Circumlateral Vertical Augmentation Mastopexy for the Correction of Ptosis and Hypoplasia of the Lower Medial Quadrant in Tuberous Breast Deformity. 61
33263780 2021
37
The highs and lows of Medisoft as an audit tool: lessons from a 5-year upper eyelid ptosis audit. 61
32709954 2021
38
Reply to: external levator resection for involutional ptosis: is intraoperative suture adjustment necessary for good outcomes? 61
33012190 2021
39
Reply to "external levator resection for involutional ptosis: is intraoperative suture adjustment necessary for good outcomes?" 61
33043752 2021
40
Circumlateral Vertical Augmentation Mastopexy for the Correction of Ptosis and Hypoplasia of the Lower Medial Quadrant in Tuberous Breast Deformity. 61
33033877 2021
41
Giant Cell Arteritis Presenting with Ptosis and Diplopia. 61
33583895 2021
42
Polytetrafluoroethylene frontalis suspension in blepharospasm with eyelid apraxia: an effective and well-tolerated adjunct to botulinum toxin therapy. 61
32172614 2021
43
Postoperative Clinical Outcomes Using Standard Variables Following Levator-Mullerectomy Advancement Blepharoptosis Surgery. 61
33606440 2021
44
External levator resection for involutional ptosis: is intraoperative suture adjustment necessary for good outcomes? 61
32048532 2021
45
Comment on: "Circumlateral Vertical Augmentation Mastopexy for the Correction of Ptosis and Hypoplasia of the Lower Medial Quadrant in Tuberous Breast Deformity". 61
33537849 2021
46
Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single-center experience underscoring the multiple factors involved in the prognosis. 61
33533561 2021
47
The Prevalence of Blepharoptosis in Facial Rejuvenation Patient Population. 61
32356151 2021
48
Brainstem haemorrhage as a rare complication of burr hole craniostomy. 61
33345529 2021
49
Combination of Dermal fat Grafting and Frontalis Suspension Using Polytetrafluoroethylene Sheet for Blepharoptosis With a Deep Sulcus. 61
33606442 2021
50
Surgical Outcomes of Unilateral Marcus Gunn Jaw Winking Ptosis Correction: A Novel Whitnall's Ligament Approach. 61
33307625 2021
Sources

Variations for Ptosis

About this section

ClinVar genetic disease variations for Ptosis:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IGHMBP2 NM_002180.2(IGHMBP2):c.92G>A (p.Trp31Ter) SNV Pathogenic 242499 rs863224880 11:68673542-68673542 11:68906074-68906074
2 CHRFAM7A GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558) copy number gain Pathogenic 523250 15:30366065-32899558
3 TCF20 NM_005650.3(TCF20):c.3605dup (p.Pro1203fs) Duplication Pathogenic 590777 rs1569146993 22:42607706-42607707 22:42211700-42211701
4 SOS1 NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) SNV Pathogenic 40672 rs397517148 2:39250269-39250269 2:39023128-39023128
5 SIL1 NC_000005.10:g.139189727_139201554del Deletion Pathogenic 812923 5:138525416-138537243
6 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) SNV Pathogenic 40513 rs397507520 12:112891083-112891083 12:112453279-112453279
7 ANKRD11 NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) Microsatellite Likely pathogenic 279678 rs886041125 16:89351043-89351047 16:89284635-89284639
8 GLI3 NM_000168.6(GLI3):c.1622C>T (p.Thr541Met) SNV Likely pathogenic 627565 rs1562667078 7:42018223-42018223 7:41978624-41978624
9 SYNGAP1 NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) SNV Likely pathogenic 411584 rs1060503383 6:33409095-33409095 6:33441318-33441318
10 MT-TN NC_012920.1:m.5702A>G SNV Likely pathogenic 812543 rs1603220093 MT:5702-5702 MT:5702-5702
11 CHRND NM_000751.3(CHRND):c.822del (p.Ser274fs) Deletion Likely pathogenic 374186 rs1057518958 2:233396063-233396063 2:232531353-232531353
12 RYR1 NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) SNV Likely pathogenic 12977 rs118192177 19:38986923-38986923 19:38496283-38496283
13 CHRND NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu) SNV Likely pathogenic 374185 rs1057518957 2:233399853-233399853 2:232535143-232535143
14 DMD NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) SNV Likely pathogenic 374132 rs201217593 X:31196064-31196064 X:31177947-31177947
15 OPA1 NM_001354663.2(OPA1):c.-260_-243del Deletion Uncertain significance 214916 rs863224140 3:193332587-193332604 3:193614798-193614815
16 ARG2 GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3 copy number gain Uncertain significance 635772 14:68110557-68283783
17 MT-ND1 NC_012920.1:m.3670G>A SNV Uncertain significance 692386 rs1603219074 MT:3670-3670 MT:3670-3670
Sources

Expression for Ptosis

About this section
Search GEO for disease gene expression data for Ptosis.
Sources

Pathways for Ptosis

About this section

Pathways related to Ptosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics 60
10.03 RYR1 CHRND
2
Pilocytic astrocytoma 1
9.23 SOS1 PTPN11
Sources

GO Terms for Ptosis

About this section

Cellular components related to Ptosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 acetylcholine-gated channel complex GO:0005892 8.62 CHRND CHRFAM7A

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

# Name GO ID Score Top Affiliating Genes
1 neurotrophin TRK receptor signaling pathway GO:0048011 9.16 SOS1 PTPN11
2 regulation of membrane potential GO:0042391 9.13 DMD CHRND CHRFAM7A
3 muscle contraction GO:0006936 8.8 RYR1 PABPN1 CHRND

Molecular functions related to Ptosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 acetylcholine binding GO:0042166 8.62 CHRND CHRFAM7A
Sources

Sources for Ptosis

About this section
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....