MCID: CNG513
MIFTS: 37

Congenital Ptosis

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Congenital Ptosis

MalaCards integrated aliases for Congenital Ptosis:

Name: Congenital Ptosis 12 60 56 6 15

Characteristics:

Orphanet epidemiological data:

60
congenital ptosis
Inheritance: Autosomal dominant,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060261
ICD9CM 36 743.61
NCIt 51 C27049
SNOMED-CT 69 60938005 61989004
ICD10 34 Q10.0
ICD10 via Orphanet 35 Q10.0
UMLS via Orphanet 75 C0266573
Orphanet 60 ORPHA91411
UMLS 74 C0266573

Summaries for Congenital Ptosis

Disease Ontology : 12 A ptosis characterized by eyelid drop present at birth.

MalaCards based summary : Congenital Ptosis is related to ptosis and marcus gunn phenomenon. An important gene associated with Congenital Ptosis is COL25A1 (Collagen Type XXV Alpha 1 Chain), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Agrin Interactions at Neuromuscular Junction. Affiliated tissues include eye, heart and skin, and related phenotypes are hearing/vestibular/ear and muscle

Related Diseases for Congenital Ptosis

Diseases in the Ptosis family:

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

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 ptosis 29.5 ACTG1 COL25A1 FOXL2 KIF21A PAX6 RYR1
2 marcus gunn phenomenon 11.3
3 ptosis, hereditary congenital 1 10.9
4 baraitser-winter syndrome 1 10.9
5 baraitser-winter syndrome 2 10.9
6 amblyopia 10.4
7 suppression amblyopia 10.4
8 baraitser-winter cerebrofrontofacial syndrome 10.2 ACTB ACTG1
9 hypotonia-cystinuria syndrome 10.2 ACTB ACTG1
10 coloboma, ocular, autosomal dominant 10.2 ACTG1 PAX6
11 strabismus 10.2
12 mechanical strabismus 10.1
13 refractive error 10.1
14 myopia 10.1
15 aniridia 1 10.0
16 blepharophimosis 10.0
17 myopathy 10.0
18 axenfeld-rieger syndrome 10.0 COL25A1 PAX6
19 muscle disorders 9.9
20 scoliosis 9.9
21 monocular esotropia 9.9
22 esotropia 9.9
23 baraitser-winter syndrome 9.9 ACTB ACTG1
24 exotropia 9.9 KIF21A TNNI3K
25 tukel syndrome 9.8 KIF21A TNNI3K
26 blepharophimosis, ptosis, and epicanthus inversus 9.8
27 cleft palate, isolated 9.8
28 duane retraction syndrome 1 9.8
29 epicanthus 9.8
30 ohdo syndrome 9.8
31 myasthenia gravis 9.8
32 astigmatism 9.8
33 alacrima, achalasia, and mental retardation syndrome 9.8
34 cataract 9.8
35 craniosynostosis 9.8
36 disuse amblyopia 9.8
37 heart disease 9.8
38 anisometropia 9.8
39 lagophthalmos 9.8
40 cellulitis 9.8
41 central core myopathy 9.8
42 kallmann syndrome 9.8
43 plexiform neurofibroma 9.8
44 malignant hyperthermia 9.8
45 neurofibroma 9.8
46 microcephaly 9.8
47 malignant hyperthermia susceptibility 9.8
48 myasthenia gravis congenital 9.8
49 juvenile myasthenia gravis 9.8
50 axenfeld-rieger syndrome, type 1 9.8 FOXL2 PAX6

Graphical network of the top 20 diseases related to Congenital Ptosis:



Diseases related to Congenital Ptosis

Symptoms & Phenotypes for Congenital Ptosis

MGI Mouse Phenotypes related to Congenital Ptosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.26 ACHE ACTB ACTG1 PAX6
2 muscle MP:0005369 9.17 ACHE ACTB ACTG1 COL25A1 PAX6 RYR1

Drugs & Therapeutics for Congenital Ptosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Levator Resection with3 Point Fixation Versus 2 Point Fixation Tucking for Congenital Ptosis Completed NCT03240107 Not Applicable
2 Müller's Muscle as a New Proprioceptive Organ Not yet recruiting NCT03396627

Search NIH Clinical Center for Congenital Ptosis

Genetic Tests for Congenital Ptosis

Anatomical Context for Congenital Ptosis

MalaCards organs/tissues related to Congenital Ptosis:

42
Eye, Heart, Skin

Publications for Congenital Ptosis

Articles related to Congenital Ptosis:

(show top 50) (show all 216)
# Title Authors Year
1
Surgical Timing for Congenital Ptosis Should Not Be Determined Solely by the Presence of Anisometropia. ( 30789542 )
2019
2
Pre-aponeurotic Fat Prolapse Following Levator Resection for Congenital Ptosis. ( 30747974 )
2019
3
Orbital Septum Fibrosis in Congenital Ptosis Correlates With Eyelid Function: A Clinicopathologic Study. ( 30844911 )
2019
4
Supramaximal Levator Resection for Poor Function Congenital Ptosis. ( 30921059 )
2019
5
Types of materials for frontalis sling surgery for congenital ptosis. ( 31013353 )
2019
6
Amblyopia, Strabismus and Refractive Errors in Congenital Ptosis: a systematic review and meta-analysis. ( 29844360 )
2018
7
Factors related to amblyopia in congenital ptosis after frontalis sling surgery. ( 30463547 )
2018
8
Therapeutic Algorithm for Congenital Ptosis Repair with Levator Resection and Frontalis Suspension: Results and Literature Review. ( 28296517 )
2018
9
Hering's Law in Congenital Ptosis: Evaluation of the Contralateral Response to Unilateral Congenital Ptosis Repair. ( 28723733 )
2018
10
Determination of the Amount of Ptosis Correction in Levator Resection Surgery for Pediatric Congenital Ptosis. ( 29026970 )
2018
11
Double Rhomboid Suture Technique for Congenital Ptosis. ( 29257186 )
2018
12
Improving Outcomes of Posterior Approach Levatorpexy for Congenital Ptosis With Reduced Levator Function. ( 29369150 )
2018
13
Ultrasound biomicroscopy image patterns in normal upper eyelid and congenital ptosis in the Indian population. ( 29480247 )
2018
14
Tarsal buckle with conjunctival prolapse following levator plication for unilateral congenital ptosis. ( 29572371 )
2018
15
Frontalis Muscle Flap Versus Maximal Anterior Levator Resection as First Option for Patients With Severe Congenital Ptosis. ( 29659435 )
2018
16
Surgical treatment of unilateral severe simple congenital ptosis. ( 29675342 )
2018
17
A study of changes in levator muscle in congenital ptosis. ( 29705893 )
2018
18
Small-incision levator resection for correction of congenital ptosis: a prospective study. ( 29744575 )
2018
19
Intraoperative lagophthalmos formula for levator resection in congenital ptosis. ( 30049800 )
2018
20
Surgical treatment of severe congenital ptosis using deep temporal fascia. ( 30325240 )
2018
21
Modified Combined Fascia Sheath and Levator Muscle Complex Suspension With Müller Muscle Preservation on Treating Severe Congenital Ptosis. ( 30325839 )
2018
22
Maximal levator resection in unilateral congenital ptosis with poor levator function. ( 27601423 )
2017
23
Effect of upgaze on lower eyelid position in Korean patients with congenital ptosis. ( 27916510 )
2017
24
Factors Associated With Surgical Outcomes in Congenital Ptosis: A 10-Year Study of 319 Cases. ( 28040525 )
2017
25
Analysis of the causes of recurrence after frontalis suspension using silicone rods for congenital ptosis. ( 28207846 )
2017
26
Two different techniques for frontalis suspension using Gore-Tex to treat severe congenital ptosis. ( 28224289 )
2017
27
Clinical presentation and management of congenital ptosis. ( 28280295 )
2017
28
Early onset bilateral juvenile myasthenia gravis masquerading as simple congenital ptosis. ( 28293536 )
2017
29
A Modified Levator Resection Technique Involving Retention of the Levator Palpebrae Superioris Muscle Suspension System for Treatment of Congenital Ptosis. ( 28378186 )
2017
30
Combined Surgery for Simultaneous Treatment of Congenital Ptosis and Coexisting Strabismus. ( 28510774 )
2017
31
Efficacy of brow suspension with autogenous fascia lata in simple congenital ptosis. ( 28523052 )
2017
32
Comment on "A Modified Levator Resection Technique Involving Retention of the Levator Palpebrae Superioris Muscle Suspension System for Treatment of Congenital Ptosis". ( 28550449 )
2017
33
The Relationship of Amount of Resection and Time for Recovery of Bell's Phenomenon after Levator Resection in Congenital Ptosis. ( 28584563 )
2017
34
Levator resection for congenital ptosis: Does pre-operative levator function or degree of ptosis affect successful outcome? ( 28696799 )
2017
35
Congenital ptosis repair with a frontalis silicon sling: comparison between Fox's single pentagon technique and a modified Crawford double triangle technique. ( 28713059 )
2017
36
Factors Associated With Surgical Outcomes in Congenital Ptosis: A 10-Year Study of 319 Cases. ( 28778573 )
2017
37
Timing of surgical correction for the treatment of unilateral congenital ptosis: Effects on cosmetic and functional results. ( 28812934 )
2017
38
Evaluation and Management of Unilateral Congenital Ptosis in a Healthy Child. ( 28910429 )
2017
39
Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy. ( 29456480 )
2017
40
Comparison between eyelid indices of ptotic eye and normal fellow eye in patients with unilateral congenital ptosis. ( 26556586 )
2016
41
Frontalis suspension with an expanded polytetrafluoroethylene sheet for congenital ptosis repair. ( 26887686 )
2016
42
Clinical trial comparing autogenous fascia lata sling and Gore-Tex suspension in bilateral congenital ptosis. ( 27022237 )
2016
43
Frontalis Sling for the Treatment of Congenital Ptosis. ( 27110323 )
2016
44
Clinical Results of Modified Frontalis Suspension Technique Using Preserved Fascia Lata for Congenital Ptosis. ( 27258708 )
2016
45
Safety and Long-term Outcomes of Congenital Ptosis Surgery: A Population-Based Study. ( 27281828 )
2016
46
Levator resection with suspensory ligament of the superior fornix suspension for correction of pediatric congenital ptosis with poor levator function. ( 27518546 )
2016
47
Cosmetic and functional outcomes of frontalis suspension surgery using autologous fascia lata or silicone rods in pediatric congenital ptosis. ( 27695282 )
2016
48
Improvement in levator function after anterior levator resection for the treatment of congenital ptosis. ( 25105520 )
2015
49
Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction. ( 25581513 )
2015
50
Axial Globe Length in Congenital Ptosis. ( 25859684 )
2015

Variations for Congenital Ptosis

ClinVar genetic disease variations for Congenital Ptosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AHI1 NM_017651.4(AHI1): c.2299G> T (p.Val767Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs755688765 GRCh38 Chromosome 6, 135431282: 135431282
2 AHI1 NM_017651.4(AHI1): c.2299G> T (p.Val767Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs755688765 GRCh37 Chromosome 6, 135752420: 135752420
3 CSPP1 NM_024790.6(CSPP1): c.3281A> G (p.Glu1094Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201629827 GRCh37 Chromosome 8, 68102960: 68102960
4 CSPP1 NM_024790.6(CSPP1): c.3281A> G (p.Glu1094Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201629827 GRCh38 Chromosome 8, 67190725: 67190725

Expression for Congenital Ptosis

Search GEO for disease gene expression data for Congenital Ptosis.

Pathways for Congenital Ptosis

GO Terms for Congenital Ptosis

Cellular components related to Congenital Ptosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dense body GO:0097433 8.62 ACTB ACTG1

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

# Name GO ID Score Top Affiliating Genes
1 platelet aggregation GO:0070527 9.26 ACTB ACTG1
2 retina homeostasis GO:0001895 9.16 ACTB ACTG1
3 regulation of cardiac conduction GO:1903779 8.96 RYR1 TNNI3K
4 cell junction assembly GO:0034329 8.62 ACTB ACTG1

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.35 ACTB ACTG1 KIF21A RYR1 TNNI3K
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.92 ACTB FOXL2 PAX6 ZFHX4

Sources for Congenital Ptosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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