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MCID: PTS002
MIFTS: 52

Ptosis

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Ptosis

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MalaCards integrated aliases for Ptosis:

Name: Ptosis 12 73 29 6 15 70
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 70 C0005745 C0033377
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Summaries for Ptosis

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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 behavior/neurological and growth/size/body region

Wikipedia : 73 Ptosis (from the Greek word πτῶσις "falling", "a fall", "dropped") refers to droopiness of a body part.... more...

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Related Diseases for Ptosis

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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 861)
# 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 31.9 RYR1 DMD CHRND
4 noonan syndrome-like disorder with loose anagen hair 31.6 SOS1 PTPN11
5 noonan syndrome-like disorder with loose anagen hair 2 31.4 SOS1 PTPN11
6 noonan syndrome with multiple lentigines 31.2 SYNGAP1 SOS1 PTPN11
7 cardiofaciocutaneous syndrome 1 31.2 SYNGAP1 SOS1 PTPN11
8 duane retraction syndrome 30.6 ZFHX4 TUBB6 FOXL2
9 synostosis 30.2 TWIST1 RYR1 GLI3
10 pectus excavatum 30.0 TCF20 PTPN11 DMD
11 muscular disease 30.0 RYR1 PABPN1 DMD
12 congenital myasthenic syndrome 29.9 RYR1 MUSK GLI3 CHRND
13 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 29.7 TCF20 BRPF1 ANKRD11
14 neuromuscular disease 29.7 RYR1 PABPN1 MUSK IGHMBP2 DMD CHRND
15 respiratory failure 29.7 RYR1 MUSK IGHMBP2 DMD
16 pfeiffer syndrome 29.6 TWIST1 PTPN11 GLI3
17 cryptorchidism, unilateral or bilateral 29.3 SOS1 PTPN11 GLI3 CHRND ANKRD11
18 blepharophimosis, ptosis, and epicanthus inversus 11.8
19 blepharoptosis, myopia, and ectopia lentis 11.5
20 kaufman oculocerebrofacial syndrome 11.4
21 ptosis, hereditary congenital 1 11.4
22 intellectual developmental disorder with dysmorphic facies and ptosis 11.4
23 deafness, conductive, with ptosis and skeletal anomalies 11.4
24 vocal cord paralysis and ptosis 11.4
25 facial palsy, congenital, with ptosis and velopharyngeal dysfunction 11.3
26 baraitser-winter syndrome 11.3
27 blepharophimosis with ptosis, syndactyly, and short stature 11.3
28 baraitser-winter syndrome 1 11.3
29 ptosis, strabismus, and ectopic pupils 11.3
30 aniridia - ptosis - intellectual disability - familial obesity 11.3
31 ptosis, hereditary congenital 2 11.2
32 3mc syndrome 11.2
33 microbrachycephaly ptosis cleft lip 11.2
34 oculopharyngeal muscular dystrophy 11.2
35 richieri-costa/guion-almeida syndrome 11.1
36 sphingosine phosphate lyase insufficiency syndrome 11.1
37 kearns-sayre syndrome 11.0
38 chronic progressive external ophthalmoplegia 11.0
39 horner's syndrome 11.0
40 3mc syndrome 3 11.0
41 fibrosis of extraocular muscles, congenital, 1 11.0
42 lymphedema-distichiasis syndrome 11.0
43 myasthenia gravis 11.0
44 epicanthus 11.0
45 3mc syndrome 2 11.0
46 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 11.0
47 charcot-marie-tooth disease with ptosis and parkinsonism 11.0
48 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia 11.0
49 jorgenson lenz syndrome 11.0
50 saethre-chotzen syndrome 11.0

Graphical network of the top 20 diseases related to Ptosis:



Diseases related to Ptosis
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Symptoms & Phenotypes for Ptosis

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MGI Mouse Phenotypes related to Ptosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ANKRD11 BRPF1 DMD IGHMBP2 MUSK PABPN1
2 growth/size/body region MP:0005378 10.17 ANKRD11 BRPF1 DMD FOXL2 GLI3 IGHMBP2
3 cellular MP:0005384 10.14 BRPF1 DMD GLI3 IGHMBP2 MUSK PABPN1
4 mortality/aging MP:0010768 10.13 ANKRD11 BRPF1 DMD FOXL2 GLI3 IGHMBP2
5 digestive/alimentary MP:0005381 9.91 DMD GLI3 IGHMBP2 PTPN11 RYR1 SOS1
6 muscle MP:0005369 9.76 DMD IGHMBP2 MUSK PABPN1 PTPN11 RYR1
7 nervous system MP:0003631 9.7 BRPF1 DMD GLI3 IGHMBP2 MUSK PTPN11
8 skeleton MP:0005390 9.36 ANKRD11 BRPF1 DMD GLI3 IGHMBP2 MUSK
Sources

Drugs & Therapeutics for Ptosis

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

(show all 50)
# 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
Phenylephrine Approved Phase 4 59-42-7 6041
5
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
6
Ephedrine Approved Phase 4 299-42-3 9294
7
Pseudoephedrine Approved Phase 4 90-82-4 7028
8 Anti-Arrhythmia Agents Phase 4
9 Adrenergic beta-Agonists Phase 4
10 Anti-Asthmatic Agents Phase 4
11 Sodium Channel Blockers Phase 4
12 Diuretics, Potassium Sparing Phase 4
13 Bronchodilator Agents Phase 4
14 abobotulinumtoxinA Phase 4
15 Cholinergic Agents Phase 4
16 Botulinum Toxins Phase 4
17 Botulinum Toxins, Type A Phase 4
18 Anesthetics Phase 4
19 Brimonidine Tartrate Phase 4 70359-46-5
20 Antihypertensive Agents Phase 4
21 Pharmaceutical Solutions Phase 4
22 Neurotransmitter Agents Phase 4
23 Adrenergic alpha-Agonists Phase 4
24 Adrenergic Agonists Phase 4
25 Vasoconstrictor Agents Phase 4
26 Respiratory System Agents Phase 4
27 Sympathomimetics Phase 4
28 Adrenergic Agents Phase 4
29 Mydriatics Phase 4
30 Cardiotonic Agents Phase 4
31 Ophthalmic Solutions Phase 4
32 Nasal Decongestants Phase 4
33 Protective Agents Phase 4
34
Fluorouracil Approved Phase 3 51-21-8 3385
35
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
36
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
37
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
38 Immunosuppressive Agents Phase 3
39 Immunologic Factors Phase 3
40 Antimetabolites 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
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
45
Methylcobalamin Approved, Investigational 13422-55-4
46
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
47
Ropivacaine Approved 84057-95-4 71273 175805
48 Hemostatics
49 Fibrin Tissue Adhesive
50 Coagulants

Interventional clinical trials:

(show top 50) (show all 65)
# 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 Effect of Upneeq (Oxymetazoline Hydrochloride 0.1%) on Palpebral Fissure Height, Eye Redness, and Patient-reported Eye Appearance Not yet recruiting NCT04831047 Phase 4 Oxymetazoline hydrochloride 0.1% ophthalmic solution;Placebo
9 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
10 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
11 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
12 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
13 Effect of Pectoral Electrostimulation on Reduction of Mammary Ptosis After Bariatric Surgery Completed NCT02434419 Phase 3
14 Bupivacaine Injection of Eye Muscles to Treat Strabismus Recruiting NCT01616108 Phase 2, Phase 3 Bupivacaine
15 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Terminated NCT02878694 Phase 2, Phase 3
16 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
17 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
18 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
19 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
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 Suspended NCT03266081 Phase 2 0.75% bupivacaine
22 Percutaneous Inferior Cervical Sympathetic Block for Treatment of Refractory Ventricular Tachycardia Not yet recruiting NCT04770051 Phase 1
23 Quantitative Evaluation of Levator Palpebra Muscle Strength Unknown status NCT02226016
24 Comparison of Different Surgical Treatments for Severe Ptosis Correction RCT Study Unknown status NCT03916107
25 The Role of Bandage Contact Lens in Post-operative Patients Undergoing Fasanella Servat Ptosis Repair Unknown status NCT03375879
26 Modified Müller's Muscle-conjunctival Resection Internal Ptosis Repair Using Fibrin Glue Unknown status NCT03392272
27 Comparison Between Three Different Surgeries for Blepharoptosis Repair and Their Impact on Dry Eye Status Unknown status NCT02501187
28 A Real-time Magnetic Device Prototype for Management of Blepharoptosis Unknown status NCT03812016
29 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
30 Comparison Between Different Surgical Approaches for the Treatment of INVOLUTIONAL PTOSIS Unknown status NCT03373812
31 Fixed Versus Adjustable Sutures in Management of Blepheroptosis Unknown status NCT03149367
32 A Novel Treatment Using Neuromuscular Electrical Stimulation to Improve Eyelid Function in Patients With CN III and CN VII Palsy. Unknown status NCT03239418
33 Astigmatic Corneal Changes Secondary to Eyelid Surgery Unknown status NCT01968174
34 Assessment of Changes of Periocular Skin Sensation Following Eyelid and Ocular Surface Surgeries Unknown status NCT02638610
35 Evaluation of Patient and Physician Satisfaction With the Zift eLevatIon of Facial Tissue Clinical Study Unknown status NCT03055819
36 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
37 Evaluation of Intraoperative Lagophthalmos Formula for Levator Resection in Congenital Ptosis on Egyptian Patients Completed NCT04291625
38 Preoperative and Intraoperative Factors Related to the Development of Ptosis After Retinal Surgery Completed NCT01752478
39 Comparison of Effectiveness and Safety of Eye Fixation Types During Combined Glaucoma Procedures Completed NCT03797846
40 Laser Fluorescent Imaging of Nipple and Areola During Breast Lift in Combination With Breast Implants Completed NCT02201979
41 Comparison of Postoperative Pain With Two Different Types of Local Anesthesia in Surgery for a Drooping Eyelid Completed NCT01350024
42 Comparative Study of Eyelid Position Interdependence in Involutional Ptosis Patients Submitted to 1, 2 or 4 Drops of 10% Phenylephrine Completed NCT00864656
43 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
44 Comparison Between Clinical Measurements and Computer-based Measurements on Digital Photographs to Evaluate Blepharoptosis Completed NCT02367677
45 Evaluation of Polytetrafluoroethylene (Ptose-up) in Management of Severe Congenital Blepharoptosis Completed NCT04214379
46 Non-surgical Correction of Eye Lid Paralysis With External Magnet Systems Completed NCT02988856
47 Custom Print Megnetic Levator Prosthesis Pilot Comparison Completed NCT04807855 Early Phase 1
48 Photographic Assessment of Eyebrow Position and Range of Motion Completed NCT00347308
49 Evaluation of the Ulthera® System for Lifting of the Buttock Completed NCT02270892
50 Seri Surgical Scaffold (TM) Support of the Lower Pole of the Breasts in Augmentation Mastopexy or Breast Reduction Patients Completed NCT02016612

Search NIH Clinical Center for Ptosis

Cochrane evidence based reviews: blepharoptosis

Sources

Genetic Tests for Ptosis

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Genetic tests related to Ptosis:

# Genetic test Affiliating Genes
1 Ptosis 29
Sources

Anatomical Context for Ptosis

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MalaCards organs/tissues related to Ptosis:

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

Publications for Ptosis

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Articles related to Ptosis:

(show top 50) (show all 10412)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman. 61 54
15725589 2005
3
[Familial chronic progressive blepharoptosis without other neurological symptoms: a new clinical entity?]. 61 54
12355844 2002
4
Malaria-induced ptosis. 61
33681531 2021
5
Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single-center experience underscoring the multiple factors involved in the prognosis. 61
33533561 2021
6
CLEAR - Contact lens complications. 61
33775382 2021
7
"Anterior interosseous nerve syndrome (Kiloh Nevin Syndrome) revealing Gantzer muscle and simultaneous myasthenia gravis". 61
33664927 2021
8
KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3. 61
33251926 2021
9
Hemifacial spasm through the last three decades: From etiology to efficacy and safety of long-term botulinum toxin treatment. 61
33662742 2021
10
Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review. 61
33334222 2021
11
Infantile thiamine deficiency: Redefining the clinical patterns. 61
33461052 2021
12
Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome. 61
33393407 2021
13
[Long term outcomes of botulinum toxin injections in infantile esotropia]. 61
33632627 2021
14
Successful Treatment with Rituximab for Granulomatosis with Polyangiitis and Multiple Cranial Neuropathies. 61
33132328 2021
15
Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene. 61
33491998 2021
16
Cavernous Sinus Meningioma Resection Through Orbitozygomatic Craniotomy. 61
33515796 2021
17
Postpartum Recovery From Meningioma-Related Oculomotor Palsy. 61
33706360 2021
18
High-resolution MR imaging of cranial neuropathy in patients with anti-GQ1b antibody syndrome. 61
33677393 2021
19
Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients. 61
31773638 2021
20
A rare cause of exophthalmia: Osteoblastoma of the frontal sinus. 61
33664921 2021
21
Lagophthalmos after congenital ptosis surgery: comparison between maximal levator resection and frontalis sling operation. 61
32651544 2021
22
Surgical strategy for third nerve palsy with aberrant regeneration: Harnessing the aberrant power. 61
33727458 2021
23
Safety Profile of Combined Same-Day Treatment for Botulinum Toxin With Full Face Nonablative Fractionated Laser Resurfacing. 61
33165055 2021
24
Double Space Augmentation Mastopexy-A Reflection After 15 Years. 61
33150468 2021
25
CLEAR - Effect of contact lens materials and designs on the anatomy and physiology of the eye. 61
33775377 2021
26
Incidence of Horner syndrome associated with neuroblastic disease. 61
33174155 2021
27
Metastases of systemic malignancies to the orbit: a major review. 61
32340504 2021
28
Diagnosis of DOK7 congenital myasthenic syndrome during pregnancy: A case report and literature review. 61
33714798 2021
29
Safety of combining cosmetic injectables with radiofrequency microneedling: A 4.5-year review. 61
33522699 2021
30
The Application of Temporal-Fasciae-Complex Sheet in Treating Severe Blepharoptosis. 61
31485765 2021
31
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities. 61
33110267 2021
32
MASP1-related 3MC syndrome in a patient from Turkey. 61
33765348 2021
33
Literature Commentary. 61
33496532 2021
34
Severe Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses: Response. 61
32868563 2021
35
Strabismus in chronic progressive external ophthalmoplegia. 61
33191655 2021
36
Immune checkpoint inhibitor-associated myasthenia gravis, myositis, and myocarditis overlap syndrome. 61
33721590 2021
37
Levator palpebrae superioris myositis: An uncommon cause of ptosis. 61
33364451 2021
38
Recent Progress in Oculopharyngeal Muscular Dystrophy. 61
33805441 2021
39
Ophthalmic Surgeries and Systemic Medical Conditions Associated With the Development of Involutional Ptosis. 61
32427726 2021
40
Validity of scoring systems for the assessment of technical and non-technical skills in ophthalmic surgery-a systematic review. 61
33649573 2021
41
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa). 61
33372375 2021
42
Immune Checkpoint Inhibitor-Induced Ptosis in a Patient With Prostate Cancer. 61
32235233 2021
43
Cranial nerve palsy caused by metastasis to the skull base in patients with castration-resistant prostate cancer: Three case reports. 61
33718819 2021
44
5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy. 61
33374016 2021
45
Oculomotor nerve palsy in an asymptomatic child with COVID-19. 61
33689910 2021
46
Hemisensory loss in myasthenia gravis. 61
33731400 2021
47
Dysphagia and Dysphonia, a Pairing of Symptoms Caused by an Unusual Pair of Diseases: Castleman's Disease and Myasthenia Gravis. 61
32812444 2021
48
MuSK-positive myasthenia may not only be triggered by SARS-CoV-2. 61
33751712 2021
49
Marked Respiratory Failure in an Ambulant Patient with Immune-mediated Necrotizing Myopathy and Anti-Kv1.4 and Anti-titin Antibodies. 61
33642484 2021
50
Scleral Lenses Versus Surgery for Ptosis in Progressive External Ophthalmoplegia Plus Respectively Kearns-Sayre Syndrome. 61
32868565 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 Position
1 IGHMBP2 NM_002180.2(IGHMBP2):c.92G>A (p.Trp31Ter) SNV Pathogenic 242499 rs863224880 GRCh37: 11:68673542-68673542
GRCh38: 11:68906074-68906074
2 SIL1 NC_000005.10:g.139189727_139201554del Deletion Pathogenic 812923 GRCh37: 5:138525416-138537243
GRCh38:
3 SOS1 NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) SNV Pathogenic 40672 rs397517148 GRCh37: 2:39250269-39250269
GRCh38: 2:39023128-39023128
4 TCF20 NM_005650.3(TCF20):c.3605dup (p.Pro1203fs) Duplication Pathogenic 590777 rs1569146993 GRCh37: 22:42607706-42607707
GRCh38: 22:42211700-42211701
5 overlap with 13 genes GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558) copy number gain Pathogenic 523250 GRCh37: 15:30366065-32899558
GRCh38:
6 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) SNV Pathogenic 40513 rs397507520 GRCh37: 12:112891083-112891083
GRCh38: 12:112453279-112453279
7 GLI3 NM_000168.6(GLI3):c.1622C>T (p.Thr541Met) SNV Likely pathogenic 627565 rs1562667078 GRCh37: 7:42018223-42018223
GRCh38: 7:41978624-41978624
8 ANKRD11 NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) Microsatellite Likely pathogenic 279678 rs886041125 GRCh37: 16:89351043-89351047
GRCh38: 16:89284635-89284639
9 MT-TN NC_012920.1:m.5702A>G SNV Likely pathogenic 812543 rs1603220093 GRCh37: MT:5702-5702
GRCh38: MT:5702-5702
10 CHRND NM_000751.3(CHRND):c.822del (p.Ser274fs) Deletion Likely pathogenic 374186 rs1057518958 GRCh37: 2:233396063-233396063
GRCh38: 2:232531353-232531353
11 SYNGAP1 NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) SNV Likely pathogenic 411584 rs1060503383 GRCh37: 6:33409095-33409095
GRCh38: 6:33441318-33441318
12 RYR1 NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) SNV Likely pathogenic 12977 rs118192177 GRCh37: 19:38986923-38986923
GRCh38: 19:38496283-38496283
13 CHRND NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu) SNV Likely pathogenic 374185 rs1057518957 GRCh37: 2:233399853-233399853
GRCh38: 2:232535143-232535143
14 DMD NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) SNV Likely pathogenic 374132 rs201217593 GRCh37: X:31196064-31196064
GRCh38: X:31177947-31177947
15 overlap with 5 genes GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3 copy number gain Uncertain significance 635772 GRCh37: 14:68110557-68283783
GRCh38:
16 MT-ND1 NC_012920.1:m.3670G>A SNV Uncertain significance 692386 rs1603219074 GRCh37: MT:3670-3670
GRCh38: MT:3670-3670
17 OPA1 NM_001354663.2(OPA1):c.-260_-243del Deletion Uncertain significance 214916 rs863224140 GRCh37: 3:193332587-193332604
GRCh38: 3:193614798-193614815
Sources

Expression for Ptosis

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Search GEO for disease gene expression data for Ptosis.
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Pathways for Ptosis

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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
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GO Terms for Ptosis

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.33 RYR1 PABPN1 CHRND
2 neurotrophin TRK receptor signaling pathway GO:0048011 9.26 SOS1 PTPN11
3 eyelid development in camera-type eye GO:0061029 8.96 TWIST1 SOS1
4 roof of mouth development GO:0060021 8.8 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 9.28 ZNF462 ZFHX4 TWIST1 TCF20 SOS1 IGHMBP2
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Sources for Ptosis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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
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