Ptosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PTS002 MIFTS: 53	Ptosis Categories: Eye diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Download Expand all tables

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Aliases & Classifications for Ptosis

MalaCards integrated aliases for Ptosis:

Name: Ptosis ¹² ⁷⁶ ²⁹ ⁶ ¹⁵ ⁷³

Blepharoptosis ¹² ⁵⁵ ⁴⁴

Drooping Eyelid ¹²

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060260

ICD10 ³³ H02.40 H02.409

ICD9CM ³⁵ 374.3 374.30

MeSH ⁴⁴ D001763

NCIt ⁵⁰ C27298

SNOMED-CT ⁶⁸ 11934000 155179008 193942002 more

UMLS ⁷³ C0005745 C0033377

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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 RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Gap junction and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. The drugs Chromium and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and heart, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : ⁷⁶ Ptosis (from the Greek word πτῶσις \"falling\", \"a fall\", \"dropped\") refers to droopiness of a body... more...

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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 369)

#	Related Disease	Score	Top Affiliating Genes
1	congenital ptosis	33.8	COL25A1 KIF21A RYR1 TUBB3 ZFHX4
2	blepharophimosis	33.0	FOXL2 TWIST1 UBE3B
3	tukel syndrome	32.2	KIF21A PHOX2A TUBB3 TUBB6
4	epicanthus	32.1	ANKRD11 FOXL2 TWIST1 UBE3B
5	kearns-sayre syndrome	32.0	KIF21A PHOX2A TUBB3
6	fibrosis of extraocular muscles, congenital, 2	31.7	KIF21A PHOX2A
7	strabismus	30.5	KIF21A PHOX2A TUBB3 TWIST1
8	exotropia	30.3	KIF21A PHOX2A TUBB3
9	hypotropia	30.0	KIF21A PHOX2A TUBB3
10	blepharophimosis, ptosis, and epicanthus inversus	12.5
11	ptosis, hereditary congenital 1	12.1
12	intellectual developmental disorder with dysmorphic facies and ptosis	12.1
13	blepharophimosis with ptosis, syndactyly, and short stature	12.1
14	deafness, conductive, with ptosis and skeletal anomalies	12.1
15	facial palsy, congenital, with ptosis and velopharyngeal dysfunction	12.1
16	aniridia - ptosis - intellectual disability - familial obesity	12.1
17	blepharoptosis, myopia, and ectopia lentis	12.0
18	ptosis, strabismus, and ectopic pupils	12.0
19	microbrachycephaly ptosis cleft lip	12.0
20	brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation	11.9
21	ptosis, hereditary congenital 2	11.9
22	disproportionate short stature with ptosis and valvular heart lesions	11.8
23	vocal cord paralysis and ptosis	11.8
24	growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia	11.8
25	charcot-marie-tooth disease with ptosis and parkinsonism	11.8
26	ophthalmoplegia totalis with ptosis and miosis	11.8
27	mandibulofacial dysostosis with ptosis, autosomal dominant	11.8
28	congenital heart disease ptosis hypodontia craniostosis	11.8
29	optic atrophy opthalmoplegia ptosis deafness myopia	11.8
30	ptosis strabismus diastasis	11.8
31	ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	11.8
32	ptosis-syndactyly-learning difficulties syndrome	11.8
33	metopic ridging-ptosis-facial dysmorphism syndrome	11.8
34	baraitser-winter syndrome	11.7
35	kaufman oculocerebrofacial syndrome	11.6
36	baraitser-winter syndrome 1	11.5
37	marcus gunn phenomenon	11.5
38	3mc syndrome 2	11.5
39	oculopharyngeal muscular dystrophy	11.3
40	richieri-costa/guion-almeida syndrome	11.3
41	wandering spleen	11.3
42	fibrosis of extraocular muscles, congenital, 1	11.2
43	jorgenson lenz syndrome	11.2
44	tucker syndrome	11.2
45	chronic progressive external ophthalmoplegia	11.2
46	bell's palsy	11.2
47	horner's syndrome	11.1
48	widow's peak	11.1
49	radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation	11.1
50	autosomal dominant optic atrophy plus syndrome	11.1

Graphical network of the top 20 diseases related to Ptosis:

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Symptoms & Phenotypes for Ptosis

GenomeRNAi Phenotypes related to Ptosis according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-2	10.12	MUSK
2	Decreased viability	GR00173-A	10.12	MUSK
3	Decreased viability	GR00221-A-1	10.12	MUSK
4	Decreased viability	GR00221-A-4	10.12	MUSK
5	Decreased viability	GR00240-S-1	10.12	TUBB6 PHOX2A SOS1 TUBB3
6	Decreased viability	GR00381-A-1	10.12	OPA1
7	Decreased viability	GR00402-S-2	10.12	TUBB6 TWIST1 UBE3B ZFHX4 ANKRD11 BRPF1
8	no effect	GR00402-S-1	9.62	TUBB3 TUBB6 TWIST1 UBE3B ZFHX4 ANKRD11

MGI Mouse Phenotypes related to Ptosis:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.21	ANKRD11 BRPF1 COL25A1 IGHMBP2 MUSK OPA1
2	cellular	MP:0005384	10.18	BRPF1 COL25A1 IGHMBP2 MUSK OPA1 PABPN1
3	growth/size/body region	MP:0005378	10.18	FOXL2 IGHMBP2 MUSK OPA1 PHOX2A RYR1
4	mortality/aging	MP:0010768	10.16	ANKRD11 BRPF1 COL25A1 FOXC2 FOXL2 IGHMBP2
5	homeostasis/metabolism	MP:0005376	10.13	FOXC2 FOXL2 IGHMBP2 MUSK OPA1 PABPN1
6	muscle	MP:0005369	9.81	COL25A1 FOXC2 IGHMBP2 MUSK OPA1 PABPN1
7	nervous system	MP:0003631	9.73	BRPF1 COL25A1 FOXC2 IGHMBP2 MUSK OPA1
8	respiratory system	MP:0005388	9.17	COL25A1 FOXC2 IGHMBP2 MUSK PHOX2A RYR1

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Drugs & Therapeutics for Ptosis

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

(show top 50) (show all 218)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Chromium

Approved

Phase 4

7440-47-3

27668

Everolimus

Approved

Phase 4,Phase 2,Phase 3,Phase 1

159351-69-6

6442177

Miconazole

Approved, Investigational, Vet_approved

Phase 4,Phase 1,Phase 2

22916-47-8

4189

Sirolimus

Approved, Investigational

Phase 4,Phase 2,Phase 3,Phase 1

53123-88-9

5284616 6436030 46835353

Epinephrine

Approved, Vet_approved

Phase 4,Not Applicable

51-43-4

5816

Lidocaine

Approved, Vet_approved

Phase 4,Phase 1,Not Applicable

137-58-6

3676

Racepinephrine

Approved

Phase 4,Not Applicable

329-65-7

838

Acetylcholine

Approved

Phase 4,Phase 1,Phase 2,Not Applicable

51-84-3

187

Bupivacaine

Approved, Investigational

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

2180-92-9, 38396-39-3

2474

Menthol

Approved

Phase 4,Phase 1,Phase 2,Not Applicable

2216-51-5

16666

Acetaminophen

Approved

Phase 4

103-90-2

1983

Silicon

Approved, Investigational

Phase 4,Not Applicable

7440-21-3

4082203

Ropivacaine

Approved

Phase 4,Not Applicable

84057-95-4

71273 175805

Magnesium citrate

Approved

Phase 4

3344-18-1

Nitrofurantoin

Approved, Vet_approved

Phase 4,Not Applicable

67-20-9

5353830

Morphine

Approved, Investigational

Phase 4

57-27-2

5288826

Pregabalin

Approved, Illicit, Investigational

Phase 4,Phase 3

148553-50-8

5486971

Rizatriptan

Approved

Phase 4

145202-66-0, 144034-80-0

5078

Sumatriptan

Approved, Investigational

Phase 4

103628-46-2

5358

Triamcinolone

Approved, Vet_approved

Phase 4

124-94-7

31307

Atropine

Approved, Vet_approved

Phase 4

5908-99-6, 51-55-8

174174

Neostigmine

Approved, Vet_approved

Phase 4

59-99-4

4456

Rocuronium

Approved

Phase 4

119302-91-9, 143558-00-3

441290

Dexlansoprazole

Approved, Investigational

Phase 4

138530-94-6, 103577-45-3

9578005

Lansoprazole

Approved, Investigational

Phase 4

103577-45-3

3883

Gabapentin

Approved, Investigational

Phase 4,Phase 3

60142-96-3

3446

gamma-Aminobutyric acid

Approved, Investigational

Phase 4,Phase 3

56-12-2

119

Probucol

Approved, Investigational

Phase 4

23288-49-5

4912

Misoprostol

Approved

Phase 4

59122-46-2

5282381

Hydrocodone

Approved, Illicit

Phase 4

125-29-1

5284569

Hydromorphone

Approved, Illicit

Phase 4

466-99-9

5284570

Ibuprofen

Approved

Phase 4

15687-27-1

3672

Ketorolac

Approved

Phase 4

74103-06-3, 66635-83-4

3826

Benzocaine

Approved, Investigational

Phase 4

1994-09-7, 94-09-7

2337

Baclofen

Approved

Phase 4

1134-47-0

2284

Citric Acid

Approved, Nutraceutical, Vet_approved

Phase 4,Not Applicable

77-92-9

311

tannic acid

Approved, Nutraceutical

Phase 4

Anti-Bacterial Agents

Phase 4,Phase 1,Phase 2,Not Applicable

Antibiotics, Antitubercular

Phase 4,Phase 1,Phase 2,Not Applicable

Antifungal Agents

Phase 4,Phase 1,Phase 2

Anti-Infective Agents

Phase 4,Phase 2,Phase 1,Not Applicable

Immunosuppressive Agents

Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1

Adrenergic Agents

Phase 4,Phase 3,Phase 1,Not Applicable

Adrenergic Agonists

Phase 4,Phase 3,Not Applicable

Adrenergic alpha-Agonists

Phase 4,Phase 3,Not Applicable

Adrenergic beta-Agonists

Phase 4,Not Applicable

Anesthetics

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Anesthetics, Local

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Anti-Arrhythmia Agents

Phase 4,Phase 1,Not Applicable

Anti-Asthmatic Agents

Phase 4,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 660)

#	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	Clinical Outcomes and Urodynamic Effects After Vaginal Tailored Mesh Surgery for Pelvic Organ Prolapse	Completed	NCT02178735	Phase 4
11	SIS Graft and Traditional Repair in Vaginal Wall Prolapse	Completed	NCT00827528	Phase 4
12	Study of Cytrix Use in Pelvic Floor Prolapse Treatment	Completed	NCT01244165	Phase 4
13	Comparison Between Transvaginal Mesh and Traditional Surgery for Pelvic Organ Prolapse	Completed	NCT00566917	Phase 4
14	Efficacy Study of Vaginal Mesh for Prolapse	Completed	NCT00475540	Phase 4
15	Efficacy Study of Vaginal Mesh for Anterior Prolapse	Completed	NCT00557882	Phase 4
16	Clinical Assessment of the Total Vaginal Mesh Technique for Treatment of Genital Prolapse	Completed	NCT00196495	Phase 4
17	IV Acetaminophen for Postoperative Pain After Pelvic Organ Prolapse Repair	Completed	NCT02155738	Phase 4	IV Acetaminophen;IV normal saline
18	Brow Lifting With Dysport	Completed	NCT01401803	Phase 4	Dysport
19	Posterior IVS Versus Sacrospinous Suspension in Vaginal Vault Prolapse Repair	Completed	NCT00153231	Phase 4
20	Efficacy of Aurosling in Frontalis Sling Suspension Surgery	Completed	NCT00753831	Phase 4
21	Improvement of Pain Following Robotic Sacrocolpopexy and Rectocele Repair for Pelvic Organ Prolapse	Completed	NCT02449915	Phase 4	Bupivacaine;Placebo
22	Local Infiltration Analgesia With Ropivacaine in Posterior Vaginal Wall Prolapse:a Randomized, Double-Blind Study	Completed	NCT00769054	Phase 4	Ropivacaine;Isotonic NaCl
23	Vaginal Estrogens Comparative Trial on Pelvic Organ Prolapse Patients	Completed	NCT03032848	Phase 4	Conjugated Estrogen;Promestriene;Estriol;Vaginal Moisturizer - Cream
24	Dilators for Dyspareunia Prevention	Completed	NCT01299363	Phase 4
25	Effect of Preoperative Estrogen Treatment on Connective Tissues of the Pelvic Floor	Completed	NCT01778985	Phase 4	Premarin
26	Pre-operative Bowel Preparation Prior to Minimally Invasive Sacral Colpopexy	Completed	NCT01805310	Phase 4
27	Nitrofurantoin Prophylaxis During Catheter-managed Acute Urinary Retention After Pelvic Reconstructive Surgery	Completed	NCT02727322	Phase 4	Nitrofurantoin;Placebo
28	Brow Enhancement Study	Completed	NCT01308593	Phase 4	Botox
29	Analgetic and Anxiolytic Effect of Preoperative Pregabalin	Completed	NCT00353704	Phase 4	pregabalin;Placebo;morphine
30	What Benefit With a New Stapler Device in the Surgical Treatment of Obstructed Defecation?	Completed	NCT00810745	Phase 4
31	Comparison of Burch Urethropexy and Mid-urethral Sling Performed Concomitantly With a Sacral Colpopexy	Completed	NCT00934999	Phase 4
32	Rizatriptan in Acute Treatment of Migraine in Patients With Unilateral Trigeminal-autonomic Symptoms.	Completed	NCT00753311	Phase 4	rizatriptan or placebo
33	Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections	Completed	NCT01599273	Phase 4	subconjunctival triamcinolone injection
34	A Randomized Controlled Study Comparing Three Single-incision Devices for Female Urinary Stress Incontinence	Completed	NCT00751088	Phase 4
35	NITI CAR27 (ColonRing) Compression Anastomosis in Colorectal Surgery	Completed	NCT01056913	Phase 4
36	Optimal Relaxation Technique for Laparotomies With Rocuronium Infusion Followed by Sugammadex Reversal	Completed	NCT01539044	Phase 4	Neostigmine, atropine;Sugammadex
37	Psychological Well-being, Recovery and Sexuality After Total and Subtotal Hysterectomy	Completed	NCT00876057	Phase 4
38	Vibration-Assisted Anaesthesia	Completed	NCT00793988	Phase 4
39	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
40	Safety and Efficacy of Lansoprazole in Patients With Reflux Disease	Completed	NCT01135368	Phase 4	Lansoprazole
41	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
42	Investigation to Minimize Prolapse Recurrence of the Vagina Using Estrogen	Recruiting	NCT02431897	Phase 4	Conjugated Estrogens Cream;Placebo Cream
43	Gabapentin for Postop Pain After SSLF	Recruiting	NCT03123861	Phase 4	Gabapentin;Placebo oral capsule
44	ACell MatriStem Pelvic Floor Matrix Versus Native Tissue Repair, Comparative Study	Recruiting	NCT02021279	Phase 4
45	Value of Robotic Rectopexy for the Treatment of Complex Pelvic Floor Dysfunction	Recruiting	NCT01346436	Phase 4
46	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
47	Forehead Scars Following Mohs Micrographic Surgery and Reconstruction for Skin Cancer	Recruiting	NCT01459666	Phase 4	Dysport (abobotulinumtoxinA);Bacteriostatic 0.9% Sodium Chloride (vehicle)
48	Obstetrical Gel Use to Shorten Labor and Prevent Lower Genital Tract Trauma	Recruiting	NCT03518684	Phase 4	Natalis
49	Vessel Injury in Relation With Strut Thickness Assessed by OCT	Recruiting	NCT03026465	Phase 4
50	Cervical Ripening for Obese Women: A Randomized, Comparative Effectiveness Trial	Recruiting	NCT02639429	Phase 4	Vaginal Misoprostol

Search NIH Clinical Center for Ptosis

Cochrane evidence based reviews: blepharoptosis

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Genetic Tests for Ptosis

Genetic tests related to Ptosis:

#	Genetic test	Affiliating Genes
1	Ptosis ²⁹

Sources

Anatomical Context for Ptosis

MalaCards organs/tissues related to Ptosis:

⁴¹

Eye, Skin, Heart, Uterus, Cervix, Thyroid, Testes

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Publications for Ptosis

Articles related to Ptosis:

(show top 50) (show all 516)

#	Title	Authors	Year
1	Blepharochalasis: 'drooping eyelids that raised our eyebrows'. ( 29936417 )	Razmi T M....De D.	2018
2	Tarsal buckle with conjunctival prolapse following levator plication for unilateral congenital ptosis. ( 29572371 )	Pujari A....Samdani A.	2018
3	Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element. ( 29481440 )	Bouman A....van Spaendonk R.	2018
4	Determination of the Amount of Ptosis Correction in Levator Resection Surgery for Pediatric Congenital Ptosis. ( 29026970 )	Kim C.Y....Lee S.Y.	2018
5	Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia. ( 28120463 )	ChAcraud C....Echaniz-Laguna A.	2018
6	The Ophthalmology Surgical Competency Assessment Rubric (OSCAR) for anterior approach ptosis surgery. ( 29442541 )	Juniat V....Saleh G.M.	2018
7	Frontalis Muscle Flap Versus Maximal Anterior Levator Resection as First Option for Patients With Severe Congenital Ptosis. ( 29659435 )	Medel R....Wolley-Dod C.	2018
8	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 )	Ma J....Miao R.	2018
9	Evaluating the temperature effects of ice and heat tests on ptosis due to Myasthenia Gravis. ( 29743585 )	Marinos E....Reddel S.	2018
10	Isolated bilateral abducens paralysis without ptosis in an anti-LDL receptor-related protein 4 antibody-positive patient treated effectively with steroid-pulse therapy. ( 29801905 )	Miyake Z....Tamaoka A.	2018
11	Subacute Progressive Ptosis, Ophthalmoplegia, Gait Instability, and Cognitive Changes. ( 29946691 )	Lin J....Galetta S.L.	2018
12	Improving Outcomes of Posterior Approach Levatorpexy for Congenital Ptosis With Reduced Levator Function. ( 29369150 )	Feldman I....Malhotra R.	2018
13	Orbital, eyelid, and nasopharyngeal silicone oil granuloma presenting as ptosis &amp; pseudo-xanthelasma. ( 29978139 )	Powers M.A....Kossler A.L.	2018
14	A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 29339661 )	Li F....Fan X.	2018
15	Small-incision levator resection for correction of congenital ptosis: a prospective study. ( 29744575 )	Eshraghi B....GHADIMI H.	2018
16	Amblyopia, Strabismus and Refractive Errors in Congenital Ptosis: a systematic review and meta-analysis. ( 29844360 )	Wang Y....Ye J.	2018
17	Sudden-onset unilateral ptosis induced by pituitary Macroadenoma, with false-positive jolly and neostigmine tests. ( 29685009 )	Shen G.X....Nan G.X.	2018
18	Comparing the outcomes of severe versus mild/moderate ptosis using closed posterior levator advancement. ( 29842810 )	Oh L.J....Tsirbas A.	2018
19	Brown Syndrome Following Upper Eyelid Ptosis Repair. ( 29467810 )	Wang Y....McClelland C.M.	2018
20	Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency. ( 29378385 )	Yang X.W....Tan Y.Q.	2018
21	Isolated unilateral ptosis as a presenting feature of midbrain infarction. ( 29437723 )	Kumawat B.L....Sagar D.	2018
22	Considerations on the Role of Algorithm-Based Levator Aponeurectomy in Small Incision External Ptosis Surgery for Involutional Ptosis-Reply. ( 29285528 )	Repp D.J....Sires B.	2018
23	Open source modular ptosis crutch for the treatment of myasthenia gravis. ( 29271663 )	Saidi T....Douglas T.S.	2018
24	Cervicothoracic epidural hematoma in a toddler with miosis, ptosis, nonspecific symptoms, and no history of major trauma: case report. ( 29396720 )	Root B.K....Bauer D.F.	2018
25	SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss. ( 29315086 )	Henn A....Zirn B.	2018
26	Seeing more clearly despite the ptosis. ( 29655545 )	Murthy S.C.	2018
27	Frontalis-Orbicularis Muscle Advancement for Correction of Upper Eyelid Ptosis: A Systematic Literature Review. ( 29958196 )	Cruz A.A.V....Akaishi P.M.S.	2018
28	Upper lid ptosis surgery: what is the optimal interval for the postoperative review? A retrospective review of 300 cases. ( 29328065 )	Porteous A.M....Verity D.H.	2018
29	Ptosis Sensitivity Threshold for the Lay Observer. ( 29905610 )	Gordon M.J....Goldberg R.A.	2018
30	New Ophthalmoplegia and Recurrent Ptosis After Ptosis Repair Surgery. ( 29879280 )	Li E....Lesser R.L.	2018
31	Considerations on the Role of Algorithm-Based Levator Aponeurectomy in Small Incision External Ptosis Surgery for Involutional Ptosis. ( 29285535 )	Innocenti A....Innocenti M.	2018
32	Heart Block, Ptosis, and Diagnostic Funduscopic Examination: Problems of the Heart Seen Through the Eyes. ( 29731029 )	Ramcharan C.R.	2018
33	Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. ( 29159890 )	Kar A....Dalal A.	2018
34	A study of changes in levator muscle in congenital ptosis. ( 29705893 )	Surve A....Kashyap S.	2018
35	Surgical treatment of unilateral severe simple congenital ptosis. ( 29675342 )	Lee J.H....Kim Y.D.	2018
36	Ultrasound biomicroscopy image patterns in normal upper eyelid and congenital ptosis in the Indian population. ( 29480247 )	Surve A....Bajaj M.S.	2018
37	Closed Posterior Levator Advancement in Severe Ptosis. ( 29922563 )	Oh L.J....Tsirbas A.	2018
38	A Novel Technique for the Prevention of Recurrent Eyebrow Ptosis After Brow Lift Surgery. ( 29944529 )	Li T....Shao Y.	2018
39	A 37-Year-Old Woman with Progressive Right Side Ptosis for One Month. ( 29740946 )	Su H.Y....Su Y.F.	2018
40	Use of Botulinum Toxin for the Correction of Mild Ptosis. ( 29657673 )	Mustak H....Rootman D.	2018
41	Retrospective Analysis of the Effect of Hering Law on Outcomes of Surgical Correction of Ptosis. ( 28930783 )	Pan E....Li Q.	2017
42	The Aesthetic Analyzing of Midface Ratio After Folding Aponeurosis of Levator Palpebrae Superioris Muscle in the Ptosis Correction. ( 29215440 )	Ji C....Zhang J.	2017
43	A Modified Levator Resection Technique Involving Retention of the Levator Palpebrae Superioris Muscle Suspension System for Treatment of Congenital Ptosis. ( 28378186 )	Zuo L....Du Y.Y.	2017
44	Levator resection for congenital ptosis: Does pre-operative levator function or degree of ptosis affect successful outcome? ( 28696799 )	Nguyen C.T....Hardy T.G.	2017
45	Ptosis induced by topical steroid eye drops: Two cases reports. ( 29390490 )	Zhu Y....Shentu X.	2017
46	Early onset bilateral juvenile myasthenia gravis masquerading as simple congenital ptosis. ( 28293536 )	Alam M.S....Devi Nivean P.	2017
47	The Relationship of Amount of Resection and Time for Recovery of Bell's Phenomenon after Levator Resection in Congenital Ptosis. ( 28584563 )	Goel R....Agarwal T.	2017
48	Dacryoadenitis with Ptosis and Diplopia as the Initial Presentation of Granulomatosis with Polyangiitis. ( 28883246 )	Hibino M....Kondo T.	2017
49	Re: &quot;Conjunctiva-Sparing Posterior Ptosis Surgery: A Novel Approach&quot;. ( 28891921 )	Bealka P.J....Nakra T.	2017
50	Combined Surgery for Simultaneous Treatment of Congenital Ptosis and Coexisting Strabismus. ( 28510774 )	Zhou F....Cheng H.	2017

Sources

Genes for Ptosis

Genes related to Ptosis (3 elite genes):

(show all 35)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RYR1	Ryanodine Receptor 1	Protein Coding	430.77	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
2	IGHMBP2	Immunoglobulin Mu Binding Protein 2	Protein Coding	406.71	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	403.21	Pathogenic ⁶ DISEASES inferred ¹⁵
4	FOXL2	Forkhead Box L2	Protein Coding	47.22	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
5	BRPF1	Bromodomain And PHD Finger Containing 1	Protein Coding	39.63	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
6	TUBB6	Tubulin Beta 6 Class V	Protein Coding	38.27	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
7	PABPN1	Poly(A) Binding Protein Nuclear 1	Protein Coding	33.65	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders (show sections)	12355844 15725589
8	MUSK	Muscle Associated Receptor Tyrosine Kinase	Protein Coding	32.12	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
9	ZFHX4	Zinc Finger Homeobox 4	Protein Coding	31.46	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
10	CHRND	Cholinergic Receptor Nicotinic Delta Subunit	Protein Coding	30.54	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
11	FOXC2	Forkhead Box C2	Protein Coding	30.49	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
12	TWIST1	Twist Family BHLH Transcription Factor 1	Protein Coding	30.31	DISEASES inferred ¹⁵ GeneCards inferred via : Gene name Summaries (show sections)
13	UBE3B	Ubiquitin Protein Ligase E3B	Protein Coding	30.26	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
14	TUBB3	Tubulin Beta 3 Class III	Protein Coding	29.58	DISEASES inferred ¹⁵ ¹⁵ GeneCards inferred via : Disorders (show sections)
15	COL25A1	Collagen Type XXV Alpha 1 Chain	Protein Coding	29.26	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
16	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	25	Pathogenic/Likely pathogenic ⁶
17	ANKRD11	Ankyrin Repeat Domain 11	Protein Coding	25	Pathogenic/Likely pathogenic ⁶
18	KIF21A	Kinesin Family Member 21A	Protein Coding	24.89	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
19	OPA1	OPA1, Mitochondrial Dynamin Like GTPase	Protein Coding	24.68	GeneCards inferred via : Publications Variants (show sections)
20	PHOX2A	Paired Like Homeobox 2a	Protein Coding	24.19	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
21	CHRNE	Cholinergic Receptor Nicotinic Epsilon Subunit	Protein Coding	24.08	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
22	BPESC1	Blepharophimosis, Epicanthus Inversus And Ptosis, Candidate 1	RNA Gene	21.77	DISEASES inferred ¹⁵ GeneCards inferred via : Gene name Transcripts (show sections)
23	PTOS1	Ptosis, Congenital 1 (Autosomal Dominant)	Genetic Locus	16.04	GeneCards inferred via : Publications Gene name (show sections)
24	PTOS2	Ptosis, Hereditary Congenital 2	Genetic Locus	16.04	GeneCards inferred via : Publications Gene name (show sections)
25	TYMP	Thymidine Phosphorylase	Protein Coding	13.95	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
26	ECEL1	Endothelin Converting Enzyme Like 1	Protein Coding	13.32	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
27	DNM2	Dynamin 2	Protein Coding	13.19	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
28	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	13.14	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
29	RAPSN	Receptor Associated Protein Of The Synapse	Protein Coding	13.04	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
30	MTM1	Myotubularin 1	Protein Coding	13.02	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
31	DBH	Dopamine Beta-Hydroxylase	Protein Coding	13.01	DISEASES inferred ¹⁵ GeneCards inferred via : Summaries (show sections)
32	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	12.97	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
33	DOK7	Docking Protein 7	Protein Coding	12.74	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
34	COLQ	Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase	Protein Coding	12.62	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
35	ACTG1	Actin Gamma 1	Protein Coding	12.57	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)

Sources

Variations for Ptosis

ClinVar genetic disease variations for Ptosis:

⁶

(show all 20)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RYR1	NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met)	single nucleotide variant	Pathogenic	rs118192177	GRCh37	Chromosome 19, 38986923: 38986923
2	RYR1	NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met)	single nucleotide variant	Pathogenic	rs118192177	GRCh38	Chromosome 19, 38496283: 38496283
3	SOS1	NM_005633.3(SOS1): c.1300G> A (p.Gly434Arg)	single nucleotide variant	Pathogenic	rs397517148	GRCh37	Chromosome 2, 39250269: 39250269
4	SOS1	NM_005633.3(SOS1): c.1300G> A (p.Gly434Arg)	single nucleotide variant	Pathogenic	rs397517148	GRCh38	Chromosome 2, 39023128: 39023128
5	OPA1	NM_015560.2(OPA1): c.113_130del18 (p.Arg38_Ser43del)	deletion	Conflicting interpretations of pathogenicity	rs863224140	GRCh38	Chromosome 3, 193614803: 193614820
6	OPA1	NM_015560.2(OPA1): c.113_130del18 (p.Arg38_Ser43del)	deletion	Conflicting interpretations of pathogenicity	rs863224140	GRCh37	Chromosome 3, 193332592: 193332609
7	IGHMBP2	NM_002180.2(IGHMBP2): c.92G> A (p.Trp31Ter)	single nucleotide variant	Pathogenic	rs863224880	GRCh37	Chromosome 11, 68673542: 68673542
8	IGHMBP2	NM_002180.2(IGHMBP2): c.92G> A (p.Trp31Ter)	single nucleotide variant	Pathogenic	rs863224880	GRCh38	Chromosome 11, 68906074: 68906074
9		46;XX;t(19;21)(q13.3;q22.3)dn	Translocation	Pathogenic
10	ANKRD11	NM_013275.5(ANKRD11): c.1903_1907delAAACA (p.Lys635Glnfs)	deletion	Pathogenic/Likely pathogenic	rs886041125	GRCh37	Chromosome 16, 89351043: 89351047
11	ANKRD11	NM_013275.5(ANKRD11): c.1903_1907delAAACA (p.Lys635Glnfs)	deletion	Pathogenic/Likely pathogenic	rs886041125	GRCh38	Chromosome 16, 89284635: 89284639
12	CHRND	NM_000751.2(CHRND): c.822delT (p.Ser274Argfs)	deletion	Likely pathogenic	rs1057518958	GRCh38	Chromosome 2, 232531353: 232531353
13	CHRND	NM_000751.2(CHRND): c.822delT (p.Ser274Argfs)	deletion	Likely pathogenic	rs1057518958	GRCh37	Chromosome 2, 233396063: 233396063
14	CHRND	NM_000751.2(CHRND): c.1385G> T (p.Trp462Leu)	single nucleotide variant	Likely pathogenic	rs1057518957	GRCh38	Chromosome 2, 232535143: 232535143
15	CHRND	NM_000751.2(CHRND): c.1385G> T (p.Trp462Leu)	single nucleotide variant	Likely pathogenic	rs1057518957	GRCh37	Chromosome 2, 233399853: 233399853
16	DMD	NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter)	single nucleotide variant	Likely pathogenic	rs201217593	GRCh37	Chromosome X, 31196064: 31196064
17	DMD	NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter)	single nucleotide variant	Likely pathogenic	rs201217593	GRCh38	Chromosome X, 31177947: 31177947
18	SYNGAP1	NM_006772.2(SYNGAP1): c.2059C> T (p.Arg687Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs1060503383	GRCh37	Chromosome 6, 33409095: 33409095
19	SYNGAP1	NM_006772.2(SYNGAP1): c.2059C> T (p.Arg687Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs1060503383	GRCh38	Chromosome 6, 33441318: 33441318
20	covers 13 genes, none of which curated to show dosage sensitivity	GRCh37/hg19 15q13.2-13.3(chr15: 30366065-32899558)	copy number gain	Pathogenic		GRCh37	Chromosome 15, 30366065: 32899558

Sources

Expression for Ptosis

Search GEO for disease gene expression data for Ptosis.

Sources

Pathways for Ptosis

Pathways related to Ptosis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Gap junction ³⁷	11.08	SOS1 TUBB3 TUBB6
2	Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics ⁶¹	9.7	CHRND RYR1

Sources

GO Terms for Ptosis

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

#	Name	GO ID	Score	Top Affiliating Genes
1	anatomical structure morphogenesis	GO:0009653	9.33	ANKRD11 FOXC2 FOXL2
2	muscle contraction	GO:0006936	9.13	CHRND PABPN1 RYR1
3	eyelid development in camera-type eye	GO:0061029	8.62	SOS1 TWIST1

Sources

Sources for Ptosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia