Aliases & Classifications for Ptosis

MalaCards integrated aliases for Ptosis:

Name: Ptosis 12 72 28 14 69
Blepharoptosis 12 51 41
Drooping Eyelid 12

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology 12 DOID:0060260
ICD9CM 34 374.3 374.30
MeSH 41 D001763
NCIt 46 C27298

Summaries for Ptosis

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

MalaCards based summary : Ptosis, also known as blepharoptosis, is related to congenital ptosis and blepharophimosis. An important gene associated with Ptosis is FOXL2 (Forkhead Box L2), and among its related pathways/superpathways is Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. The drugs Chromium and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and thyroid, and related phenotypes are mortality/aging and cellular

Wikipedia : 72 Ptosis (from the Greek word πτῶσις \"falling\", \"a fall\", \"dropped\") refers to droopiness of a body... more...

Related Diseases for Ptosis

Diseases in the Ptosis family:

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

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

(show top 50) (show all 364)
# Related Disease Score Top Affiliating Genes
1 congenital ptosis 32.8 COL25A1 KIF21A RYR1 TUBB3 ZFHX4
2 blepharophimosis 32.3 BPESC1 FOXL2 TWIST1 UBE3B
3 epicanthus 32.1 BPESC1 FOXL2 TWIST1 UBE3B
4 tukel syndrome 31.6 KIF21A PHOX2A TUBB3
5 fibrosis of extraocular muscles, congenital, 2 31.1 KIF21A PHOX2A
6 myasthenia gravis 31.0 CHRNE MUSK RYR1
7 myopathy, centronuclear, 1 30.6 DNM2 RYR1
8 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 30.6 CHRNE MUSK
9 kearns-sayre syndrome 30.1 AFG3L2 KIF21A PHOX2A TUBB3 TYMP
10 strabismus 29.7 ECEL1 KIF21A PHOX2A TUBB3
11 exotropia 29.6 KIF21A PHOX2A TUBB3
12 hypotropia 29.3 KIF21A PHOX2A TUBB3
13 distal arthrogryposis 29.0 ECEL1 RYR1 TUBB3
14 blepharophimosis, ptosis, and epicanthus inversus 12.4
15 ptosis, hereditary congenital 1 12.1
16 blepharophimosis with ptosis, syndactyly, and short stature 12.1
17 deafness, conductive, with ptosis and skeletal anomalies 12.1
18 intellectual developmental disorder with dysmorphic facies and ptosis 12.1
19 facial palsy, congenital, with ptosis and velopharyngeal dysfunction 12.1
20 aniridia - ptosis - intellectual disability - familial obesity 12.1
21 blepharoptosis, myopia, and ectopia lentis 12.0
22 ptosis, strabismus, and ectopic pupils 12.0
23 microbrachycephaly ptosis cleft lip 12.0
24 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 11.9
25 ptosis, hereditary congenital 2 11.9
26 disproportionate short stature with ptosis and valvular heart lesions 11.8
27 vocal cord paralysis and ptosis 11.8
28 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia 11.8
29 charcot-marie-tooth disease with ptosis and parkinsonism 11.8
30 ophthalmoplegia totalis with ptosis and miosis 11.8
31 mandibulofacial dysostosis with ptosis, autosomal dominant 11.8
32 congenital heart disease ptosis hypodontia craniostosis 11.8
33 optic atrophy opthalmoplegia ptosis deafness myopia 11.8
34 ptosis strabismus diastasis 11.8
35 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 11.8
36 ptosis-syndactyly-learning difficulties syndrome 11.8
37 baraitser-winter syndrome 11.7
38 kaufman oculocerebrofacial syndrome 11.6
39 baraitser-winter syndrome 1 11.5
40 marcus gunn phenomenon 11.5
41 3mc syndrome 2 11.5
42 richieri-costa/guion-almeida syndrome 11.3
43 oculopharyngeal muscular dystrophy 11.3
44 fibrosis of extraocular muscles, congenital, 1 11.2
45 jorgenson lenz syndrome 11.2
46 chronic progressive external ophthalmoplegia 11.2
47 bell's palsy 11.2
48 horner's syndrome 11.1
49 widow's peak 11.1
50 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 11.1

Graphical network of the top 20 diseases related to Ptosis:



Diseases related to Ptosis

Symptoms & Phenotypes for Ptosis

MGI Mouse Phenotypes related to Ptosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.1 AFG3L2 BRPF1 CHRNE COL25A1 DNM2 ECEL1
2 cellular MP:0005384 10.07 AFG3L2 BRPF1 COL25A1 DNM2 MUSK PHOX2A
3 growth/size/body region MP:0005378 10.06 AFG3L2 BRPF1 CHRNE DNM2 FOXC2 FOXL2
4 muscle MP:0005369 9.81 AFG3L2 CHRNE COL25A1 DNM2 ECEL1 FOXC2
5 nervous system MP:0003631 9.77 UBE3B AFG3L2 BRPF1 CHRNE COL25A1 DNM2
6 respiratory system MP:0005388 9.23 PHOX2A RYR1 TUBB3 CHRNE COL25A1 ECEL1

Drugs & Therapeutics for Ptosis

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

(show top 50) (show all 190)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Chromium Approved Phase 4 7440-47-3 27668
2
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 46835353 6436030 5284616
5
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
6
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
7 Racepinephrine Approved Phase 4 329-65-7
8
Acetylcholine Approved Phase 4,Phase 1,Phase 2 51-84-3 187
9
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 38396-39-3, 2180-92-9 2474
10
Menthol Approved Phase 4,Phase 1,Phase 2,Not Applicable 2216-51-5 16666
11
Acetaminophen Approved Phase 4 103-90-2 1983
12
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
13
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
14 Magnesium citrate Approved Phase 4
15
Morphine Approved, Investigational Phase 4 57-27-2 5288826
16
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3 148553-50-8 5486971
17
Rizatriptan Approved Phase 4 144034-80-0, 145202-66-0 5078
18
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
19
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
20
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
21
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3 56-12-2 119
22
Nitrofurantoin Approved, Vet_approved Phase 4 67-20-9 5353830
23
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
24
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
25
Probucol Approved, Investigational Phase 4 23288-49-5 4912
26
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
27
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
28
Ibuprofen Approved Phase 4 15687-27-1 3672
29
Ketorolac Approved Phase 4,Phase 3 74103-06-3, 66635-83-4 3826
30
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 77-92-9 311
31 tannic acid Approved, Nutraceutical Phase 4
32 Anti-Bacterial Agents Phase 4,Phase 1,Phase 2
33 Antibiotics, Antitubercular Phase 4,Phase 1,Phase 2
34 Antifungal Agents Phase 4,Phase 1,Phase 2
35 Anti-Infective Agents Phase 4,Phase 2,Phase 1
36 Immunosuppressive Agents Phase 4,Phase 3,Phase 1,Phase 2
37 Adrenergic Agents Phase 4,Phase 3
38 Adrenergic Agonists Phase 4
39 Adrenergic alpha-Agonists Phase 4
40 Adrenergic beta-Agonists Phase 4
41 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1
42 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1
43 Anti-Arrhythmia Agents Phase 4
44 Anti-Asthmatic Agents Phase 4
45 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Bronchodilator Agents Phase 4
47 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1
48 Diuretics, Potassium Sparing Phase 4
49 Epinephryl borate Phase 4
50 Mydriatics Phase 4,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 567)

# Name Status NCT ID Phase Drugs
1 National,Multicentric Randomised Study of the Correction of Genital Prolapse With Fascial Repair or Mesh-Prolift Unknown status NCT00771225 Phase 4
2 Compare Sacrospinous Fixation Versus High Uterosacral Ligament Fixation for Uterus Vaginal Prolapse III/IV Unknown status NCT01347021 Phase 4
3 Surgical Treatment To Greater Anterior Vaginal Prolapse Unknown status NCT00676325 Phase 4
4 Comparative Study of Mesh Versus No Mesh in Prolapse Surgery Unknown status NCT00153257 Phase 4
5 HAL-RAR Versus Hemorrhoidectomy in the Treatment of Grade III-IV Hemorrhoids. Prospective, Randomized Trial Unknown status NCT02216305 Phase 4
6 Assessment of Stent Malapposition and Neointimal Coverage on Optical coHerence Tomography at Post-procedure and 3 Months After Platinum Chromium Alloy Of the Element™ Stent Implantation Unknown status NCT01581515 Phase 4
7 Relationship Between Initial Plaque Characteristics and Stent Surface Coverage Patterns Unknown status NCT01024179 Phase 4
8 Saline Injection - Assisted Anesthesia in Eyelid Surgery Unknown status NCT01239498 Phase 4
9 Outcomes of Anterior Colporrhaphy Versus Graft Reinforced Anterior Prolapse Repair Completed NCT00535301 Phase 4
10 SIS Graft and Traditional Repair in Vaginal Wall Prolapse Completed NCT00827528 Phase 4
11 Clinical Outcomes and Urodynamic Effects After Vaginal Tailored Mesh Surgery for Pelvic Organ Prolapse Completed NCT02178735 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 Brow Enhancement Study Completed NCT01308593 Phase 4 Botox
28 Analgetic and Anxiolytic Effect of Preoperative Pregabalin Completed NCT00353704 Phase 4 pregabalin;Placebo;morphine
29 What Benefit With a New Stapler Device in the Surgical Treatment of Obstructed Defecation? Completed NCT00810745 Phase 4
30 Comparison of Burch Urethropexy and Mid-urethral Sling Performed Concomitantly With a Sacral Colpopexy Completed NCT00934999 Phase 4
31 Rizatriptan in Acute Treatment of Migraine in Patients With Unilateral Trigeminal-autonomic Symptoms. Completed NCT00753311 Phase 4 rizatriptan or placebo
32 Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections Completed NCT01599273 Phase 4 subconjunctival triamcinolone injection
33 A Randomized Controlled Study Comparing Three Single-incision Devices for Female Urinary Stress Incontinence Completed NCT00751088 Phase 4
34 NITI CAR27 (ColonRing) Compression Anastomosis in Colorectal Surgery Completed NCT01056913 Phase 4
35 Psychological Well-being, Recovery and Sexuality After Total and Subtotal Hysterectomy Completed NCT00876057 Phase 4
36 Vibration-Assisted Anaesthesia Completed NCT00793988 Phase 4
37 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
38 Comparison of Two Treatments for Strabismus Correction: Botulinum Toxin A Associated to Surgery and Surgery Alone Completed NCT01460355 Phase 4 Botulinum Toxin Type A;saline solution
39 Investigation to Minimize Prolapse Recurrence of the Vagina Using Estrogen Recruiting NCT02431897 Phase 4 Conjugated Estrogens Cream;Placebo Cream
40 Gabapentin for Postop Pain After SSLF Recruiting NCT03123861 Phase 4 Gabapentin;Placebo oral capsule
41 Permanent Versus Absorbable Colpopexy Trial Recruiting NCT02277925 Phase 4
42 Value of Robotic Rectopexy for the Treatment of Complex Pelvic Floor Dysfunction Recruiting NCT01346436 Phase 4
43 ACell MatriStem Pelvic Floor Matrix Versus Native Tissue Repair, Comparative Study Recruiting NCT02021279 Phase 4
44 Nitrofurantoin Prophylaxis During Catheter-managed Acute Urinary Retention After Pelvic Reconstructive Surgery Recruiting NCT02727322 Phase 4 Nitrofurantoin;Placebo
45 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
46 Electrolyte Profile, Nutritional Status and Ileostomy Formation. Recruiting NCT02036346 Phase 4
47 Deep Versus Moderate Neuromuscular Blockade During Laparoscopic Surgery Recruiting NCT02812186 Phase 4 Rocuronium
48 Vessel Injury in Relation With Strut Thickness Assessed by OCT Recruiting NCT03026465 Phase 4
49 Ice T Postoperative Multimodal Pain Regimen in FPMRS Surgery Active, not recruiting NCT03052816 Phase 4 Ice T;Motrin/Percocet/Dilaudid for breakthrough
50 Vaginal Estriol Before and Vaginal Surgery for Prolapse Not yet recruiting NCT02906111 Phase 4 estriol

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

MalaCards organs/tissues related to Ptosis:

38
Eye, Heart, Thyroid, Testes, Skeletal Muscle, Uterus, Cervix

Publications for Ptosis

Articles related to Ptosis:

(show top 50) (show all 476)
# Title Authors Year
1
The Ophthalmology Surgical Competency Assessment Rubric (OSCAR) for anterior approach ptosis surgery. ( 29442541 )
2018
2
Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency. ( 29378385 )
2018
3
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 29339661 )
2018
4
Considerations on the Role of Algorithm-Based Levator Aponeurectomy in Small Incision External Ptosis Surgery for Involutional Ptosis. ( 29285535 )
2018
5
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
6
Determination of the Amount of Ptosis Correction in Levator Resection Surgery for Pediatric Congenital Ptosis. ( 29026970 )
2018
7
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. ( 29159890 )
2018
8
Isolated unilateral ptosis as a presenting feature of midbrain infarction. ( 29437723 )
2018
9
Upper lid ptosis surgery: what is the optimal interval for the postoperative review? A retrospective review of 300 cases. ( 29328065 )
2018
10
Considerations on the Role of Algorithm-Based Levator Aponeurectomy in Small Incision External Ptosis Surgery for Involutional Ptosis-Reply. ( 29285528 )
2018
11
Improving Outcomes of Posterior Approach Levatorpexy for Congenital Ptosis With Reduced Levator Function. ( 29369150 )
2018
12
Cervicothoracic epidural hematoma in a toddler with miosis, ptosis, nonspecific symptoms, and no history of major trauma: case report. ( 29396720 )
2018
13
Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia. ( 28120463 )
2018
14
Open source modular ptosis crutch for the treatment of myasthenia gravis. ( 29271663 )
2018
15
SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss. ( 29315086 )
2018
16
A prospective study of breast anthropomorphic measurements, volume and ptosis in 605 Asian patients with breast cancer or benign breast disease. ( 28192525 )
2017
17
Evaluation and Management of Unilateral Congenital Ptosis in a Healthy Child. ( 28910429 )
2017
18
Double Rhomboid Suture Technique for Congenital Ptosis. ( 29257186 )
2017
19
Bilateral Ptosis due to Sympathetic Dysfunction as a Feature of Guillain-Barre Syndrome. ( 28827488 )
2017
20
Commentary on: Modified Levator Muscle Resection Using Putterman MA1ller's Muscle-Conjunctival Resection-Ptosis Clamp. ( 29194498 )
2017
21
Timing of surgical correction for the treatment of unilateral congenital ptosis: Effects on cosmetic and functional results. ( 28812934 )
2017
22
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. ( 28513610 )
2017
23
Clinical presentation and management of congenital ptosis. ( 28280295 )
2017
24
Comments on "Ptosis: An Underestimated Complication after Autologous Fat Injection into the Upper Eyelid". ( 27986777 )
2017
25
Re: Apraclonidine in the treatment of ptosis. ( 29246626 )
2017
26
Ptosis induced by topical steroid eye drops: Two cases reports. ( 29390490 )
2017
27
The Aesthetic Analyzing of Midface Ratio After Folding Aponeurosis of Levator Palpebrae Superioris Muscle in the Ptosis Correction. ( 29215440 )
2017
28
Efficacy of brow suspension with autogenous fascia lata in simple congenital ptosis. ( 28523052 )
2017
29
Modified Levator Muscle Resection Using Putterman Muller's Muscle-Conjunctival Resection-Ptosis Clamp. ( 29194523 )
2017
30
Reply Re: "Blepharoplasty Effect on a Described Algorithmic Approach to External Ptosis Repair: Is It Time for Unbundling?" ( 28891918 )
2017
31
The Relationship of Amount of Resection and Time for Recovery of Bell's Phenomenon after Levator Resection in Congenital Ptosis. ( 28584563 )
2017
32
[Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome]. ( 28604951 )
2017
33
Re: "Conjunctiva-Sparing Posterior Ptosis Surgery: A Novel Approach". ( 28891921 )
2017
34
Re: "Conjunctiva-Sparing Posterior Ptosis Surgery: A Novel Approach". ( 28891919 )
2017
35
An original and simple autoaugmentation mastopexy in mild to moderate breast ptosis: superior pedicle frontal division to achieve upper pole fullness. ( 29302497 )
2017
36
Giant Hidrocystoma of the Orbit Presenting with Inversion and Ptosis of the Upper Eyelid. ( 28405487 )
2017
37
Ptosis and Strabismus Surgery Performed Simultaneously. ( 28926664 )
2017
38
Retrospective Analysis of the Effect of Hering Law on Outcomes of Surgical Correction of Ptosis. ( 28930783 )
2017
39
Therapeutic Algorithm for Congenital Ptosis Repair with Levator Resection and Frontalis Suspension: Results and Literature Review. ( 28296517 )
2017
40
Response to "Comments On 'Ptosis: An Underestimated Complication After Autologous Fat Injection into the Upper Eyelid'". ( 27986778 )
2017
41
Giant eyelid eccrine hidrocystoma-induced progressive ptosis in childhood. ( 28905840 )
2017
42
Alternative surgical methods for ptosis in patients with 18p deletion syndrome. ( 28356775 )
2017
43
Analysis of the causes of recurrence after frontalis suspension using silicone rods for congenital ptosis. ( 28207846 )
2017
44
RE: "Unilateral Ptosis and Homolateral Hemifacial Weakness in Chronic Progressive External Ophthalmoplegia". ( 28533811 )
2017
45
Ptosis after glaucoma surgery. ( 28860697 )
2017
46
Bilateral ptosis as first presentation of cytophagic histiocytic panniculitis: a case report. ( 28666424 )
2017
47
Hering's Law in Congenital Ptosis: Evaluation of the Contralateral Response to Unilateral Congenital Ptosis Repair. ( 28723733 )
2017
48
Congenital ptosis repair with a frontalis silicon sling: comparison between Fox's single pentagon technique and a modified Crawford double triangle technique. ( 28713059 )
2017
49
A Modified Levator Resection Technique Involving Retention of the Levator Palpebrae Superioris Muscle Suspension System for Treatment of Congenital Ptosis. ( 28378186 )
2017
50
Reply re: "Conjunctiva-Sparing Posterior Ptosis Surgery: A Novel Approach". ( 28891920 )
2017

Variations for Ptosis

ClinVar genetic disease variations for Ptosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118192177 GRCh37 Chromosome 19, 38986923: 38986923

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 9.7 CHRNE 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 8.8 CHRNE PABPN1 RYR1

Sources for Ptosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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