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

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...

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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:

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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

Sources

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

Sources

Genetic Tests for Ptosis

Genetic tests related to Ptosis:

#	Genetic test	Affiliating Genes
1	Ptosis ²⁸

Sources

Anatomical Context for Ptosis

Organs/tissues related to Ptosis:

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

Sources

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	Turro E...Ouwehand WH	32581362	2020
2	Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman. ⁵³ ⁶²	Goh KJ...Nonaka I	15725589	2005
3	[Familial chronic progressive blepharoptosis without other neurological symptoms: a new clinical entity?]. ⁵³ ⁶²	Ichikawa H...Nonaka I	12355844	2002
4	Systemic Delivery of a Monoclonal Antibody to Immunologically Block Myostatin in the A17 Mouse Model of OPMD. ⁶²	Malerba A...Popplewell L	36401050	2023
5	Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy. ⁶²	Hayes LH...Beggs AH	36324371	2022
6	[Analysis of a child with mental retardation due to a de novo variant of the KAT6A gene]. ⁶²	Ren Z...Wang L	36453964	2022
7	[Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene]. ⁶²	Chen J...Li H	36453961	2022
8	Prognostic predictors of remission in ocular myasthenia gravis. ⁶²	Celebisoy N...Gokcay F	36474006	2022
9	Upper Eyelid Skin Laxity in Elderly Patients: Correction Surgery With Eyelid Marginal Incision. ⁶²	Guo F...Yu X	36302259	2022
10	Aesthetic Changes of Brow-Eyelid Continuum After Correction of Moderate-Severe Blepharoptosis with Conjoint Fascial Sheath Suspension. ⁶²	Fan X...Song BQ	35441847	2022
11	A Case of Orbital Apex Syndrome as a Complication of Herpes Zoster Ophthalmicus. ⁶²	Kingrey BS...Chen WS	36413452	2022
12	Association of topical glaucoma medications with lacrimal drainage obstruction and eyelid malposition. ⁶²	Quinn MP...Campbell RJ	36473973	2022
13	Long term ophthalmic complications of distal arthrogryposis type 5D. ⁶²	Cohen D...Falik Zaccai T	36459431	2022
14	Auto-Augmentation Mastopexy: Inferiorly Based Parenchymal Flap Technique and Evaluation of Outcomes Using BREAST-Q After 151 Consecutive Patients. ⁶²	Zaussinger M...Huemer GM	35381881	2022
15	Longevity of ptosis correction in mastopexy and reduction mammaplasty: A systematic review of techniques. ⁶²	Wagner RD...Rohrich RJ	36061406	2022
16	Congenital trochlear-oculomotor synkinesis with ptosis. ⁶²	Rateaux M...Bremond-Gignac D	36469953	2022
17	Orbital apocrine hidrocystoma with ptosis. ⁶²	Huang V...Briceno CA	36393905	2022
18	Isolated Unilateral Ptosis in a 5-year-old Boy. ⁶²	Markow MB...DiFazio M	36450634	2022
19	Clinical Evaluation of Safety and Efficacy of Radiofrequency-Assisted Lipolysis on Breast Envelope and Nipple-Areola Complex Position. ⁶²	Unger JG...Maxwell GP	36103661	2022
20	Three-dimensional Evaluation of Results After Dual-Plane Breast Augmentation with and Without Internal Suture Mastopexy. ⁶²	Li XR...Luo SK	36454327	2022
21	A First Reported Adjustable Breast Volume Simulator for Teaching Oncoplastic Surgery Marking: Adjustable Breast Oncoplastic Surgery Simulator. ⁶²	Lim GH...Yen CC	35484686	2022
22	Horner syndrome after thyroid-related surgery: a review. ⁶²	Tang M...Zhang F	35947219	2022
23	Rhino-orbito-cerebral mucormycosis: patient characteristics in pre-COVID-19 and COVID-19 period. ⁶²	Cherian LM...Kurien R	36150158	2022
24	Coronary thrombosis after European adder bite in a patient on dual antiplatelet therapy: A case report. ⁶²	Bernasconi L...Locatelli CA	36347271	2022
25	Dacryops and clinical diagnostic challenges. ⁶²	Alsarhani WK...Alsuhaibani AH	34324876	2022
26	Assessing the corneal sub-basal nerve plexus by in vivo confocal microscopy in patients with blepharoptosis. ⁶²	Zhang Z...Sun S	35014936	2022
27	Application of covered stent graft in the treatment of complex carotid artery lesions: A single center experience. ⁶²	Liu C...Wu X	34459287	2022
28	Red flags and artifacts in perimetry. ⁶²	Mansoori T	36453382	2022
29	A comparison of reconstructive outcomes following rotation flap approach (RoFA) versus standard mastectomy: a randomized controlled trial. ⁶²	Baxter CR...Dean NR	36404630	2022
30	[Breastfeeding after breast surgery]. ⁶²	Gardeil L...Auquit Auckbur I	35908983	2022
31	Intraorbıtal Fixatıon Midface Lıft. ⁶²	Bitik O	36342769	2022
32	Pregnancy outcomes and pharmacokinetics in pregnant women living with HIV exposed to long-acting cabotegravir and rilpivirine in clinical trials. ⁶²	Patel P...Vannappagari V	36411596	2022
33	Orbital neuromuscular choristoma of the ophthalmic nerve. ⁶²	Bermudez-Castellanos I...Galindo-Ferreiro A	34109844	2022
34	Orbital amyloidosis and radiotherapy: A case report and review of literature. ⁶²	Bennassi A...Khanfir K	35918273	2022
35	Atypical ocular Chlamydia trachomatis infections in two patients attending in a second-level hospital: a case report. ⁶²	Lorente-Pascua J...Bernal-Martinez S	35623592	2022
36	Gluteal Augmentation with Hyaluronic Acid Filler: A Retrospective Analysis Using the BODY-Q Scale. ⁶²	Santorelli A...Avvedimento S	36385435	2022
37	Breast Lift Algorithm for the Treatment of Breast Implant Illness Requiring Implant Removal. ⁶²	Mowlavi A...Mirzania H	36414723	2022
38	Pott Luck. ⁶²	Vaphiades MS...Bilyk JR	36427561	2022
39	Incision-based Blepharoplasty with Preservation of Superficial and Deep Blood Vessels. ⁶²	Jiafu Y...Zhigang L	36409844	2022
40	One Patient of Blepharoptosis Caused by Levator Palpebrae Superioris Aponeurosis Degeneration. ⁶²	Tang S...Yang B	35864575	2022
41	Prepectoral Direct-to-Implant Breast Reconstruction without Placement of Acellular Dermal Matrix or Mesh after Nipple-Sparing Mastectomy. ⁶²	Urban C...Lima R	35994351	2022
42	Modified Bidirectional Adipodermal Mastopexy, Nipple-sparing Mastectomy, and Direct-to-implant Reconstruction in Patients with Significant Ptosis. ⁶²	Schwartz JD	36419632	2022
43	Tricks and Tips: Creating Illusion of Equal Eyes With Lateral Canthoplasties in the Treatment of Over- and Undercorrected Ptosis Procedures. ⁶²	Putterman AM	36326429	2022
44	Epigastric pain and partial ptosis. ⁶²	Morton A	36448264	2022
45	Modified Simultaneous Double Eyelid Blepharoplasty and Ptosis Correction With a Single-Knot, Continuous, Nonincisional Technique. ⁶²	Chen CY...Chen SG	35905501	2022
46	Immediate Breast Reconstruction Using the Autologous Dermal Flap. ⁶²	Kaviani A...Patocskai E	36462381	2022
47	Visual field changes in glaucoma patients after blepharoptosis surgery. ⁶²	Taniguchi A...Hayashi A	35001702	2022
48	[A case of 2q37 deletion syndrome related ophthalmo facial malformation]. ⁶²	Wu JX...Zhou TP	36348530	2022
49	Three-point Vertical Mattress Suture: A Simple Technique for Mild Blepharoptosis Correction in Partial-incision Double-eyelid Surgery. ⁶²	Chen B...Wang J	36384240	2022
50	Modified levator muscle complex suspension on treating pediatric blepharoptosis with poor Bell's phenomenon. ⁶²	Li R...Li J	35622218	2022

Sources

Genes for Ptosis

Genes related to Ptosis (5 elite genes):

(show top 50) (show all 101)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	406.13	Pathogenic ⁵ DISEASES inferred ¹⁴
2	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	406.04	Pathogenic ⁵ DISEASES inferred ¹⁴	32581362
3	IGHMBP2	Immunoglobulin Mu DNA Binding Protein 2	Protein Coding	404.32	Pathogenic ⁵ DISEASES inferred ¹⁴
4	SIL1	SIL1 Nucleotide Exchange Factor	Protein Coding	403.15	Pathogenic ⁵ DISEASES inferred ¹⁴	32581362
5	TCF20	Transcription Factor 20	Protein Coding	400	Pathogenic ⁵
6	CHRND	Cholinergic Receptor Nicotinic Delta Subunit	Protein Coding	38.55	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
7	RYR1	Ryanodine Receptor 1	Protein Coding	31.79	Likely pathogenic ⁵ DISEASES inferred ¹⁴
8	DMD	Dystrophin	Protein Coding	30.03	Likely pathogenic ⁵ DISEASES inferred ¹⁴
9	ANKRD11	Ankyrin Repeat Domain Containing 11	Protein Coding	29.93	Likely pathogenic ⁵ DISEASES inferred ¹⁴
10	MT-TN	Mitochondrially Encoded TRNA-Asn (AAU/C)	RNA Gene	29.75	Likely pathogenic ⁵ DISEASES inferred ¹⁴
11	TWIST1	Twist Family BHLH Transcription Factor 1	Protein Coding	29.65	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Gene name Summaries (show sections)
12	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	28.96	Likely pathogenic ⁵ DISEASES inferred ¹⁴
13	GLI3	GLI Family Zinc Finger 3	Protein Coding	28.77	Likely pathogenic ⁵ DISEASES inferred ¹⁴
14	FOXL2	Forkhead Box L2	Protein Coding	25.32	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
15	SYNGAP1-AS1	SYNGAP1 Antisense RNA 1	RNA Gene	25	Likely pathogenic ⁵
16	PABPN1	Poly(A) Binding Protein Nuclear 1	Protein Coding	22.8	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	12355844 15725589
17	ZFHX4	Zinc Finger Homeobox 4	Protein Coding	21.42	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
18	BRPF1	Bromodomain And PHD Finger Containing 1	Protein Coding	21.39	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
19	UBE3B	Ubiquitin Protein Ligase E3B	Protein Coding	20.82	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
20	ZNF462	Zinc Finger Protein 462	Protein Coding	20.69	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
21	COL25A1	Collagen Type XXV Alpha 1 Chain	Protein Coding	19.99	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
22	FOXC2	Forkhead Box C2	Protein Coding	19.65	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
23	TUBB6	Tubulin Beta 6 Class V	Protein Coding	18.96	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
24	UBR7	Ubiquitin Protein Ligase E3 Component N-Recognin 7	Protein Coding	18.47	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
25	PTOS1	Ptosis, Congenital 1 (Autosomal Dominant)	Genetic Locus	15.95	GeneCards inferred via : Publications Gene name (show sections)
26	PTOS2	Ptosis, Hereditary Congenital 2	Genetic Locus	15.95	GeneCards inferred via : Publications Gene name (show sections)
27	MUSK	Muscle Associated Receptor Tyrosine Kinase	Protein Coding	15	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
28	CHRNE	Cholinergic Receptor Nicotinic Epsilon Subunit	Protein Coding	14.45	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
29	KIF21A	Kinesin Family Member 21A	Protein Coding	14.34	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
30	RAPSN	Receptor Associated Protein Of The Synapse	Protein Coding	14	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
31	DOK7	Docking Protein 7	Protein Coding	13.99	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
32	COLQ	Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase	Protein Coding	13.95	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
33	TYMP	Thymidine Phosphorylase	Protein Coding	13.69	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
34	PHOX2A	Paired Like Homeobox 2A	Protein Coding	13.66	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
35	CHRNA1	Cholinergic Receptor Nicotinic Alpha 1 Subunit	Protein Coding	13.39	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
36	MTM1	Myotubularin 1	Protein Coding	13.34	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
37	ECEL1	Endothelin Converting Enzyme Like 1	Protein Coding	13.31	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
38	DNM2	Dynamin 2	Protein Coding	13.29	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
39	CHRNB1	Cholinergic Receptor Nicotinic Beta 1 Subunit	Protein Coding	13.23	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
40	LRP4	LDL Receptor Related Protein 4	Protein Coding	13.18	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
41	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	13.1	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
42	RRM2B	Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B	Protein Coding	13.1	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
43	SHOC2	SHOC2 Leucine Rich Repeat Scaffold Protein	Protein Coding	12.65	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
44	LRP12	LDL Receptor Related Protein 12	Protein Coding	12.55	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
45	STAC3	SH3 And Cysteine Rich Domain 3	Protein Coding	12.52	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
46	CHRNG	Cholinergic Receptor Nicotinic Gamma Subunit	Protein Coding	12.46	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
47	SCN4A	Sodium Voltage-Gated Channel Alpha Subunit 4	Protein Coding	12.42	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
48	PIEZO2	Piezo Type Mechanosensitive Ion Channel Component 2	Protein Coding	12.37	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
49	DBH	Dopamine Beta-Hydroxylase	Protein Coding	12.32	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
50	COL13A1	Collagen Type XIII Alpha 1 Chain	Protein Coding	12.2	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)

Sources

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

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	Ectoderm differentiation ⁷⁴	11.48	ZFHX4 GLI3 DMD
2	Fragile X syndrome ⁷⁴ Show member pathways Pilocytic astrocytoma ⁷⁴	11.23	SYNGAP1 SOS1 PTPN11
3	Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	9.7	RYR1 CHRND

Sources

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

Sources for Ptosis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: PTS002 MIFTS: 53	Ptosis Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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