MCID: PTS002
MIFTS: 53

Ptosis

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Ptosis

MalaCards integrated aliases for Ptosis:

Name: Ptosis 11 75 28 5 14 71 75 33
Blepharoptosis 11 53 43 33
Drooping Eyelid 11 33
Paralysis of Levator Palpebrae Superioris 33
Ptosis of Eyelid 33
Droopy Eyelid 33

Classifications:



External Ids:

Disease Ontology 11 DOID:0060260
ICD9CM 34 374.3
MeSH 43 D001763
NCIt 49 C27298
SNOMED-CT 68 204197004
ICD10 31 H02.4
UMLS 71 C0005745 C0033377

Summaries for Ptosis

Disease Ontology: 11 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 Ectoderm differentiation and Fragile X syndrome. The drugs Acetylcholine and Silicon have been mentioned in the context of this disorder. Affiliated tissues include eye, breast and skin, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia 75 Ptosis: Ptosis (from the Greek: πτῶσις 'falling', 'a fall', 'dropped') refers to droopiness or abnormal downward... more...

Ptosis: Ptosis, also known as blepharoptosis, is a drooping or falling of the upper eyelid. The drooping may be... more...

Related Diseases for Ptosis

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 1082)
# Related Disease Score Top Affiliating Genes
1 congenital ptosis 33.0 ZFHX4 RYR1 FOXL2 CHRND BRPF1
2 marcus gunn phenomenon 32.7 ZFHX4 FOXL2
3 ohdo syndrome 32.2 UBE3B GLI3 BRPF1
4 ohdo syndrome, sbbys variant 32.0 UBE3B BRPF1
5 epicanthus 32.0 PTPN11 FOXL2 ANKRD11
6 blepharophimosis 31.9 UBE3B TWIST1 FOXL2
7 noonan syndrome-like disorder with loose anagen hair 31.6 SOS1 PTPN11
8 noonan syndrome with multiple lentigines 31.4 SYNGAP1 SOS1 PTPN11
9 cardiofaciocutaneous syndrome 1 31.3 SYNGAP1 SOS1 PTPN11
10 schuurs-hoeijmakers syndrome 31.2 SYNGAP1 ANKRD11
11 hypertelorism 30.6 TWIST1 PTPN11 GLI3 ANKRD11
12 eyelid disease 30.2 UBE3B FOXL2 BRPF1
13 neuromuscular disease 30.2 RYR1 PABPN1 IGHMBP2 DMD CHRND
14 craniosynostosis 30.2 ZNF462 TWIST1 TCF20 GLI3
15 pectus excavatum 30.1 TCF20 PTPN11 DMD
16 costello syndrome 29.9 SYNGAP1 SOS1 PTPN11
17 distal arthrogryposis 29.9 RYR1 IGHMBP2 DMD CHRND
18 spinal muscular atrophy, type i 29.7 TCF20 IGHMBP2 DMD
19 congenital myasthenic syndrome 29.7 RYR1 IGHMBP2 DMD CHRND
20 cryptorchidism, unilateral or bilateral 29.6 SOS1 PTPN11 GLI3 FOXL2 CHRND ANKRD11
21 noonan syndrome 1 29.4 SYNGAP1 SOS1 PTPN11 MT-TN ANKRD11
22 blepharophimosis, ptosis, and epicanthus inversus 11.8
23 blepharoptosis, myopia, and ectopia lentis 11.6
24 deafness, conductive, with ptosis and skeletal anomalies 11.5
25 vocal cord paralysis and ptosis 11.5
26 blepharophimosis with ptosis, syndactyly, and short stature 11.4
27 intellectual developmental disorder with dysmorphic facies and ptosis 11.4
28 ptosis, hereditary congenital 1 11.4
29 kaufman oculocerebrofacial syndrome 11.4
30 baraitser-winter syndrome 11.4
31 microbrachycephaly ptosis cleft lip 11.4
32 ptosis, strabismus, and ectopic pupils 11.3
33 facial palsy, congenital, with ptosis and velopharyngeal dysfunction 11.3
34 aniridia - ptosis - intellectual disability - familial obesity 11.3
35 baraitser-winter syndrome 1 11.3
36 3mc syndrome 11.3
37 saethre-chotzen syndrome 11.2
38 metopic ridging-ptosis-facial dysmorphism syndrome 11.2
39 oculopharyngeal muscular dystrophy 11.2
40 ptosis, hereditary congenital 2 11.2
41 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 11.2
42 horner's syndrome 11.1
43 myasthenia gravis 11.1
44 disproportionate short stature with ptosis and valvular heart lesions 11.1
45 kearns-sayre syndrome 11.1
46 chronic progressive external ophthalmoplegia 11.1
47 arthrogryposis, distal, type 5d 11.1
48 dopamine beta-hydroxylase deficiency 11.0
49 mental retardation, buenos aires type 11.0
50 spastic paraplegia 7, autosomal recessive 11.0

Graphical network of the top 20 diseases related to Ptosis:



Diseases related to Ptosis

Symptoms & Phenotypes for Ptosis

MGI Mouse Phenotypes related to Ptosis:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.4 ANKRD11 BRPF1 CHRND DMD FOXL2 GLI3
2 homeostasis/metabolism MP:0005376 10.36 ANKRD11 BRPF1 DMD FOXL2 GLI3 IGHMBP2
3 nervous system MP:0003631 10.34 ANKRD11 BRPF1 DMD GLI3 IGHMBP2 PTPN11
4 cellular MP:0005384 10.21 BRPF1 DMD FOXL2 GLI3 IGHMBP2 PABPN1
5 behavior/neurological MP:0005386 10.21 ANKRD11 BRPF1 DMD IGHMBP2 PABPN1 PTPN11
6 digestive/alimentary MP:0005381 10.13 ANKRD11 DMD GLI3 IGHMBP2 PTPN11 RYR1
7 cardiovascular system MP:0005385 10.1 ANKRD11 DMD GLI3 IGHMBP2 PTPN11 RYR1
8 craniofacial MP:0005382 10.06 ANKRD11 FOXL2 GLI3 PTPN11 RYR1 SOS1
9 skeleton MP:0005390 10 ANKRD11 BRPF1 DMD GLI3 IGHMBP2 PTPN11
10 mortality/aging MP:0010768 9.91 ANKRD11 BRPF1 CHRND DMD FOXL2 GLI3
11 respiratory system MP:0005388 9.87 ANKRD11 DMD GLI3 IGHMBP2 PTPN11 RYR1
12 vision/eye MP:0005391 9.85 ANKRD11 CHRND DMD FOXL2 GLI3 IGHMBP2
13 integument MP:0010771 9.28 ANKRD11 CHRND GLI3 IGHMBP2 PTPN11 RYR1

Drugs & Therapeutics for Ptosis

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

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
3
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
4
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
5
Phenylephrine Approved Phase 4 59-42-7 6041
6
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
7
Racephedrine Approved, Experimental Phase 4 299-42-3, 90-82-4, 90-81-3 5032 9294 7028
8
abobotulinumtoxinA Phase 4
9 Botulinum Toxins, Type A Phase 4
10 Cholinergic Agents Phase 4
11 Anesthetics Phase 4
12 Epinephryl borate Phase 4
13 Anticoagulants Phase 4
14 Cardiotonic Agents Phase 4
15 Vasoconstrictor Agents Phase 4
16 Respiratory System Agents Phase 4
17 Mydriatics Phase 4
18 Sympathomimetics Phase 4
19 Protective Agents Phase 4
20 Nasal Decongestants Phase 4
21 Neurotransmitter Agents Phase 4
22 Adrenergic alpha-Agonists Phase 4
23 Adrenergic Agents Phase 4
24 Adrenergic Agonists Phase 4
25 Ophthalmic Solutions Phase 4
26 Pharmaceutical Solutions Phase 4
27
Brimonidine Tartrate Phase 4 70359-46-5
28 Antihypertensive Agents Phase 4
29
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
30
Fluorouracil Approved Phase 3 51-21-8 3385
31 Antimetabolites Phase 3
32 Immunosuppressive Agents Phase 3
33 Immunologic Factors Phase 3
34 Fibrin Tissue Adhesive Phase 2, Phase 3
35 Hemostatics Phase 2, Phase 3
36 Coagulants Phase 2, Phase 3
37
Apraclonidine Approved Phase 2 66711-21-5 2216
38
Iron Approved 7439-89-6 29936
39 Anesthetics, Local
40 Anti-Arrhythmia Agents
41 Sodium Channel Blockers
42 Diuretics, Potassium Sparing
43 Bronchodilator Agents
44 Adrenergic beta-Agonists
45 Anti-Asthmatic Agents

Interventional clinical trials:

(show top 50) (show all 69)
# Name Status NCT ID Phase Drugs
1 Saline Injection - Assisted Anesthesia in Eyelid Surgery Unknown status NCT01239498 Phase 4
2 Brow Lifting With Dysport Completed NCT01401803 Phase 4 Dysport
3 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
4 Investigation Into Brow Aesthetics Using Botox in Conjunction With Juvederm Ultra XC as Evaluated by Patient Satisfaction Completed NCT01308593 Phase 4 Botox
5 Vibration-Assisted Anaesthesia: A Randomised Controlled Trial to Investigate Whether Vibration Reduces the Pain of Anaesthetic Injection in Eyelid Surgery Completed NCT00793988 Phase 4
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 Efficacy of Intraoperative Brimonidine for Hemostasis During Eyelid Surgery Recruiting NCT05480098 Phase 4 Brimonidine Topical
8 The Effect of Upneeq (Oxymetazoline Hydrochloride 0.1%) on Palpebral Fissure Height, Eye Redness, and Patient-reported Eye Appearance Active, not recruiting NCT04831047 Phase 4 Oxymetazoline hydrochloride 0.1% ophthalmic solution;Placebo
9 The Effect of Lumify™ (Brimonidine Tartrate Ophthalmic Solution 0.025%) on Ocular Redness, Intraocular Pressure, and Eyelid Position in Glaucoma Patients Using Brimonidine 0.2%, 0.15%, or 0.1% Not yet recruiting NCT04007276 Phase 4 brimonidine tartrate ophthalmic solution 0.025%
10 Post-Marketing Clinical Follow-up (PMCF) Study in Ophthalmic Surgery to Evaluate the Safety and Efficacy of Novosyn® Quick Suture Material. A Multicenter Randomized, Active-controlled, Double-blinded, Prospective, Observational Study. Withdrawn NCT02761083 Phase 4
11 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
12 Bupivacaine Injection of Eye Muscles to Treat Strabismus Unknown status NCT01616108 Phase 2, Phase 3 Bupivacaine
13 Effect of Pectoral Electrostimulation on Reduction of Mammary Ptosis After Bariatric Surgery Completed NCT02434419 Phase 3
14 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
15 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
16 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
17 Fibrin Sealant to Reduce Postoperative Bleeding After Blepharoplasty Not yet recruiting NCT05358977 Phase 2, Phase 3
18 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Terminated NCT02878694 Phase 2, Phase 3
19 Efficacy of Apraclonidine Eye Drops in the Treatment of Ptosis Secondary to Myasthenia Gravis Completed NCT05045248 Phase 2 Apraclonidine Hcl 0.5% Oph Soln
20 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
21 Improving Epiphora & Ptosis With Bupivacaine Withdrawn NCT03266081 Phase 2 0.75% bupivacaine
22 Modified Müller's Muscle-conjunctival Resection Internal Ptosis Repair Using Fibrin Glue Unknown status NCT03392272
23 Comparison of Different Surgical Treatments for Severe Ptosis Correction RCT Study Unknown status NCT03916107
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 The Role of Bandage Contact Lens in Post-operative Patients Undergoing Fasanella Servat Ptosis Repair Unknown status NCT03375879
26 Comparison Between Different Surgical Approaches for the Treatment of INVOLUTIONAL PTOSIS Unknown status NCT03373812
27 Clinical Significance of Whitnall Ligament Structure in Patients With Congenital Ptosis Unknown status NCT04537169
28 Autologous Fat Grafting to the Breast Unknown status NCT00775788
29 Telemedicine Follow-up for Routine, Low-Risk Oculoplastic Surgery Unknown status NCT04235803
30 Evaluation of Patient and Physician Satisfaction With the Zift eLevatIon of Facial Tissue Clinical Study Unknown status NCT03055819
31 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
32 Quantitative Evaluation of Levator Palpebra Muscle Strength Unknown status NCT02226016
33 Comparison Between Three Different Surgeries for Blepharoptosis Repair and Their Impact on Dry Eye Status Unknown status NCT02501187
34 Astigmatic Corneal Changes Secondary to Eyelid Surgery Unknown status NCT01968174
35 Assessment of Changes of Periocular Skin Sensation Following Eyelid and Ocular Surface Surgeries Unknown status NCT02638610
36 Fixed Versus Adjustable Sutures in Management of Blepheroptosis Unknown status NCT03149367
37 A Novel Treatment Using Neuromuscular Electrical Stimulation to Improve Eyelid Function in Patients With CN III and CN VII Palsy. Unknown status NCT03239418
38 A Newly Modified Technique for Levator Muscle Tucking in Blepharoptosis Surgery: An Egyptian Tertiary Center Study Completed NCT04883853
39 Comparative Study of Eyelid Position Interdependence in Involutional Ptosis Patients Submitted to 1, 2 or 4 Drops of 10% Phenylephrine Completed NCT00864656
40 Evaluation of Intraoperative Lagophthalmos Formula for Levator Resection in Congenital Ptosis on Egyptian Patients Completed NCT04291625
41 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
42 Preoperative and Intraoperative Factors Related to the Development of Ptosis After Retinal Surgery Completed NCT01752478
43 Evaluation of the Ulthera® System for Lifting of the Buttock Completed NCT02270892
44 Seri Surgical Scaffold (TM) Support of the Lower Pole of the Breasts in Augmentation Mastopexy or Breast Reduction Patients Completed NCT02016612
45 Elaborated Analysis of Short and Long-term Results of Skin Versus Skin Plus Orbicularis Resection Blepharoplasty on Corneal Nerves, Meibomian Glands, Dry Eye Parameters, and Eyebrow Position Completed NCT05528016
46 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
47 The Prevalence of Dry Eye Syndrome Among Patients Who Underwent Upper Eyelids Blepharoplasty With and Without Muller Muscle Resection Completed NCT02376556
48 Photographic Assessment of Eyebrow Position and Range of Motion Completed NCT00347308
49 Evaluation of the Ulthera® System for Obtaining Lift and Tightening of the Brachia Completed NCT01713933
50 Vision Screening of the Four Year Old Children for the Detection of Amblyopia in The Town of Zagreb Completed NCT01430247

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 28

Anatomical Context for Ptosis

Organs/tissues related to Ptosis:

MalaCards : Eye, Breast, Skin, Pituitary, Brain, Thyroid, Lung

Publications for Ptosis

Articles related to Ptosis:

(show top 50) (show all 11407)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
2
Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman. 53 62
15725589 2005
3
[Familial chronic progressive blepharoptosis without other neurological symptoms: a new clinical entity?]. 53 62
12355844 2002
4
Systemic Delivery of a Monoclonal Antibody to Immunologically Block Myostatin in the A17 Mouse Model of OPMD. 62
36401050 2023
5
Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy. 62
36324371 2022
6
[Analysis of a child with mental retardation due to a de novo variant of the KAT6A gene]. 62
36453964 2022
7
[Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene]. 62
36453961 2022
8
Prognostic predictors of remission in ocular myasthenia gravis. 62
36474006 2022
9
Upper Eyelid Skin Laxity in Elderly Patients: Correction Surgery With Eyelid Marginal Incision. 62
36302259 2022
10
Aesthetic Changes of Brow-Eyelid Continuum After Correction of Moderate-Severe Blepharoptosis with Conjoint Fascial Sheath Suspension. 62
35441847 2022
11
A Case of Orbital Apex Syndrome as a Complication of Herpes Zoster Ophthalmicus. 62
36413452 2022
12
Association of topical glaucoma medications with lacrimal drainage obstruction and eyelid malposition. 62
36473973 2022
13
Long term ophthalmic complications of distal arthrogryposis type 5D. 62
36459431 2022
14
Auto-Augmentation Mastopexy: Inferiorly Based Parenchymal Flap Technique and Evaluation of Outcomes Using BREAST-Q After 151 Consecutive Patients. 62
35381881 2022
15
Longevity of ptosis correction in mastopexy and reduction mammaplasty: A systematic review of techniques. 62
36061406 2022
16
Congenital trochlear-oculomotor synkinesis with ptosis. 62
36469953 2022
17
Orbital apocrine hidrocystoma with ptosis. 62
36393905 2022
18
Isolated Unilateral Ptosis in a 5-year-old Boy. 62
36450634 2022
19
Clinical Evaluation of Safety and Efficacy of Radiofrequency-Assisted Lipolysis on Breast Envelope and Nipple-Areola Complex Position. 62
36103661 2022
20
Three-dimensional Evaluation of Results After Dual-Plane Breast Augmentation with and Without Internal Suture Mastopexy. 62
36454327 2022
21
A First Reported Adjustable Breast Volume Simulator for Teaching Oncoplastic Surgery Marking: Adjustable Breast Oncoplastic Surgery Simulator. 62
35484686 2022
22
Horner syndrome after thyroid-related surgery: a review. 62
35947219 2022
23
Rhino-orbito-cerebral mucormycosis: patient characteristics in pre-COVID-19 and COVID-19 period. 62
36150158 2022
24
Coronary thrombosis after European adder bite in a patient on dual antiplatelet therapy: A case report. 62
36347271 2022
25
Dacryops and clinical diagnostic challenges. 62
34324876 2022
26
Assessing the corneal sub-basal nerve plexus by in vivo confocal microscopy in patients with blepharoptosis. 62
35014936 2022
27
Application of covered stent graft in the treatment of complex carotid artery lesions: A single center experience. 62
34459287 2022
28
Red flags and artifacts in perimetry. 62
36453382 2022
29
A comparison of reconstructive outcomes following rotation flap approach (RoFA) versus standard mastectomy: a randomized controlled trial. 62
36404630 2022
30
[Breastfeeding after breast surgery]. 62
35908983 2022
31
Intraorbıtal Fixatıon Midface Lıft. 62
36342769 2022
32
Pregnancy outcomes and pharmacokinetics in pregnant women living with HIV exposed to long-acting cabotegravir and rilpivirine in clinical trials. 62
36411596 2022
33
Orbital neuromuscular choristoma of the ophthalmic nerve. 62
34109844 2022
34
Orbital amyloidosis and radiotherapy: A case report and review of literature. 62
35918273 2022
35
Atypical ocular Chlamydia trachomatis infections in two patients attending in a second-level hospital: a case report. 62
35623592 2022
36
Gluteal Augmentation with Hyaluronic Acid Filler: A Retrospective Analysis Using the BODY-Q Scale. 62
36385435 2022
37
Breast Lift Algorithm for the Treatment of Breast Implant Illness Requiring Implant Removal. 62
36414723 2022
38
Pott Luck. 62
36427561 2022
39
Incision-based Blepharoplasty with Preservation of Superficial and Deep Blood Vessels. 62
36409844 2022
40
One Patient of Blepharoptosis Caused by Levator Palpebrae Superioris Aponeurosis Degeneration. 62
35864575 2022
41
Prepectoral Direct-to-Implant Breast Reconstruction without Placement of Acellular Dermal Matrix or Mesh after Nipple-Sparing Mastectomy. 62
35994351 2022
42
Modified Bidirectional Adipodermal Mastopexy, Nipple-sparing Mastectomy, and Direct-to-implant Reconstruction in Patients with Significant Ptosis. 62
36419632 2022
43
Tricks and Tips: Creating Illusion of Equal Eyes With Lateral Canthoplasties in the Treatment of Over- and Undercorrected Ptosis Procedures. 62
36326429 2022
44
Epigastric pain and partial ptosis. 62
36448264 2022
45
Modified Simultaneous Double Eyelid Blepharoplasty and Ptosis Correction With a Single-Knot, Continuous, Nonincisional Technique. 62
35905501 2022
46
Immediate Breast Reconstruction Using the Autologous Dermal Flap. 62
36462381 2022
47
Visual field changes in glaucoma patients after blepharoptosis surgery. 62
35001702 2022
48
[A case of 2q37 deletion syndrome related ophthalmo facial malformation]. 62
36348530 2022
49
Three-point Vertical Mattress Suture: A Simple Technique for Mild Blepharoptosis Correction in Partial-incision Double-eyelid Surgery. 62
36384240 2022
50
Modified levator muscle complex suspension on treating pediatric blepharoptosis with poor Bell's phenomenon. 62
35622218 2022

Variations for Ptosis

ClinVar genetic disease variations for Ptosis:

5 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 13 genes GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558) CN GAIN Pathogenic
523250 GRCh37: 15:30366065-32899558
GRCh38:
2 TCF20 NM_001378418.1(TCF20):c.3605dup (p.Pro1203fs) DUP Pathogenic
590777 rs1569146993 GRCh37: 22:42607706-42607707
GRCh38: 22:42211700-42211701
3 IGHMBP2 NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter) SNV Pathogenic
242499 rs863224880 GRCh37: 11:68673542-68673542
GRCh38: 11:68906074-68906074
4 SIL1 NC_000005.10:g.139189727_139201554del DEL Pathogenic
812923 GRCh37: 5:138525416-138537243
GRCh38:
5 SOS1 NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) SNV Pathogenic
40672 rs397517148 GRCh37: 2:39250269-39250269
GRCh38: 2:39023128-39023128
6 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) SNV Pathogenic
40513 rs397507520 GRCh37: 12:112891083-112891083
GRCh38: 12:112453279-112453279
7 SYNGAP1-AS1, SYNGAP1 NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) SNV Likely Pathogenic
411584 rs1060503383 GRCh37: 6:33409095-33409095
GRCh38: 6:33441318-33441318
8 CHRND NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu) SNV Likely Pathogenic
374185 rs1057518957 GRCh37: 2:233399853-233399853
GRCh38: 2:232535143-232535143
9 CHRND NM_000751.3(CHRND):c.822del (p.Ser274fs) DEL Likely Pathogenic
374186 rs1057518958 GRCh37: 2:233396063-233396063
GRCh38: 2:232531353-232531353
10 ANKRD11 NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) MICROSAT Likely Pathogenic
279678 rs886041125 GRCh37: 16:89351043-89351047
GRCh38: 16:89284635-89284639
11 RYR1 NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) SNV Likely Pathogenic
12977 rs118192177 GRCh37: 19:38986923-38986923
GRCh38: 19:38496283-38496283
12 DMD NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) SNV Likely Pathogenic
374132 rs201217593 GRCh37: X:31196064-31196064
GRCh38: X:31177947-31177947
13 GLI3 NM_000168.6(GLI3):c.1622C>T (p.Thr541Met) SNV Likely Pathogenic
627565 rs1562667078 GRCh37: 7:42018223-42018223
GRCh38: 7:41978624-41978624
14 MT-TN NC_012920.1(MT-TN):m.5702A>G SNV Likely Pathogenic
812543 rs1603220093 GRCh37: MT:5702-5702
GRCh38: MT:5702-5702
15 overlap with 5 genes GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3 CN GAIN Uncertain Significance
635772 GRCh37: 14:68110557-68283783
GRCh38:
16 MT-ND1 NC_012920.1(MT-ND1):m.3670G>A SNV Uncertain Significance
692386 rs1603219074 GRCh37: MT:3670-3670
GRCh38: MT:3670-3670
17 OPA1 NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) DEL Uncertain Significance
214916 rs863224140 GRCh37: 3:193332587-193332604
GRCh38: 3:193614798-193614815

Copy number variations for Ptosis from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 146792 2 54800000 61100000 Copy number VRK2 ptosis of eyelids

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 11.48 ZFHX4 GLI3 DMD
2
Show member pathways
11.23 SYNGAP1 SOS1 PTPN11
3 9.7 RYR1 CHRND

GO Terms for Ptosis

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

# Name GO ID Score Top Affiliating Genes
1 roof of mouth development GO:0060021 9.1 TWIST1 SOS1 GLI3

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.47 ZNF462 ZFHX4 TWIST1 TCF20 SOS1 IGHMBP2

Sources for Ptosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....