MCID: CNG513
MIFTS: 43

Congenital Ptosis

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Ptosis

MalaCards integrated aliases for Congenital Ptosis:

Name: Congenital Ptosis 12 58 29 54 6 15 32

Characteristics:

Orphanet epidemiological data:

58
congenital ptosis
Inheritance: Autosomal dominant,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060261
ICD9CM 34 743.61
NCIt 50 C27049
SNOMED-CT 67 204197004
ICD10 32 Q10.0
ICD10 via Orphanet 33 Q10.0
UMLS via Orphanet 71 C0266573
Orphanet 58 ORPHA91411
UMLS 70 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, hereditary congenital 1 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 EPHA forward signaling and Oxytocin signaling pathway. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Congenital Ptosis

Diseases in the Ptosis family:

Ptosis, Hereditary Congenital 1 Ptosis, Hereditary Congenital 2
Congenital Ptosis Rare Disorder with Ptosis

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

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 ptosis, hereditary congenital 1 31.9 ZFHX4 PTOS1
2 marcus gunn phenomenon 31.5 ZFHX4 PHOX2A KIF21A FOXL2
3 amblyopia 31.0 PAX6 KIF21A FOXL2 CRYAA
4 anisometropia 31.0 PHOX2A PAX6 CRYAA
5 lagophthalmos 30.9 ZFHX4 PHOX2A KIF21A
6 strabismus 30.7 PHOX2A PAX6 KIF21A CRYAA AHI1
7 exotropia 30.4 PHOX2A PAX6 KIF21A CRYAA
8 esotropia 30.3 PHOX2A PAX6 KIF21A CRYAA
9 keratitis, hereditary 30.3 PHOX2A PAX6 KIF21A CRYAA
10 ptosis 30.1 ZFHX4 TUBB6 RYR1 RAB3GAP1 PTOS1 PHOX2A
11 hypotropia 30.1 PHOX2A KIF21A
12 hypertropia 30.0 PHOX2A KIF21A COL25A1
13 intraocular pressure quantitative trait locus 29.8 PAX6 CRYAA ACHE
14 tukel syndrome 29.8 TUBB6 PHOX2A KIF21A COL25A1
15 coloboma of macula 29.6 PAX6 MYH10 CSPP1 CRYAA CHD8 AHI1
16 baraitser-winter syndrome 1 10.9
17 baraitser-winter syndrome 2 10.9
18 suppression amblyopia 10.6
19 mechanical strabismus 10.5
20 astigmatism 10.4
21 autosomal dominant non-syndromic intellectual disability 1 10.4
22 refractive error 10.4
23 baraitser-winter cerebrofrontofacial syndrome 10.4 ACTG1 ACTB
24 blepharophimosis 10.3
25 coloboma, ocular, autosomal dominant 10.3 PAX6 MYH10 ACTG1
26 retinitis pigmentosa 23 10.3 PAX6 ACTG1 ACTB
27 congenital aphakia 10.3 PAX6 CRYAA
28 myotonic cataract 10.3 PHOX2A KIF21A
29 fibrosis of extraocular muscles, congenital, 2 10.3 PHOX2A KIF21A
30 paralytic squint 10.3 PHOX2A KIF21A
31 microphthalmia, isolated 5 10.2 PHOX2A KIF21A
32 partial third-nerve palsy 10.2 PHOX2A KIF21A
33 disuse amblyopia 10.2
34 eyelid disease 10.2 PAX6 FOXL2 CRYAA
35 lens disease 10.2 RAB3GAP1 PAX6 CRYAA ACTB
36 chromosome 8q21.11 deletion syndrome 10.2 ZFHX4 LINC01111
37 joubert syndrome 21 10.2 CSPP1 ARFGEF1
38 orbital disease 10.2 PHOX2A KIF21A CRYAA
39 myopia 10.2
40 entropion 10.2
41 cranial nerve disease 10.1 PHOX2A KIF21A CRYAA
42 cycloplegia 10.1
43 alternating exotropia 10.1
44 keratopathy 10.1
45 eye degenerative disease 10.1 PAX6 CRYAA ACTB
46 axenfeld-rieger syndrome, type 1 10.1 PAX6 CRYAA
47 aniridia 1 10.1
48 epicanthus 10.1
49 monocular esotropia 10.1
50 exposure keratitis 10.1

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



Diseases related to Congenital Ptosis

Symptoms & Phenotypes for Congenital Ptosis

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.47 CHD8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.47 CHD8 FOXL2 PHOX2A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.47 CHD8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.47 CHD8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.47 CHD8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.47 PHOX2A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.47 PHOX2A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.47 PHOX2A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.47 PHOX2A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.47 CHD8
11 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.47 FOXL2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.47 PHOX2A

MGI Mouse Phenotypes related to Congenital Ptosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ACHE ACTB ACTG1 AHI1 ARFGEF1 CHD8
2 mortality/aging MP:0010768 10.07 ACHE ACTB ACTG1 AHI1 ARFGEF1 CHD8
3 muscle MP:0005369 9.76 ACHE ACTB ACTG1 COL25A1 KIF21A MYH10
4 nervous system MP:0003631 9.73 ACHE ACTB ACTG1 AHI1 ARFGEF1 CHD8
5 vision/eye MP:0005391 9.28 ACHE ACTB ACTG1 AHI1 CHD8 FOXL2

Drugs & Therapeutics for Congenital Ptosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved 51-43-4 5816
2
Racepinephrine Approved 329-65-7 838
3
Lidocaine Approved, Vet_approved 137-58-6 3676
4 Anesthetics
5 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Intraoperative Lagophthalmos Formula for Levator Resection in Congenital Ptosis on Egyptian Patients Completed NCT04291625
2 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
3 Clinical Significance of Whitnall Ligament Structure in Patients With Congenital Ptosis Recruiting NCT04537169

Search NIH Clinical Center for Congenital Ptosis

Genetic Tests for Congenital Ptosis

Genetic tests related to Congenital Ptosis:

# Genetic test Affiliating Genes
1 Congenital Ptosis 29

Anatomical Context for Congenital Ptosis

MalaCards organs/tissues related to Congenital Ptosis:

40
Eye, Bone, Heart, Skin

Publications for Congenital Ptosis

Articles related to Congenital Ptosis:

(show top 50) (show all 503)
# Title Authors PMID Year
1
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. 6
25500261 2015
2
A congenital myasthenic syndrome refractory to acetylcholinesterase inhibitors. 61 54
1313543 1992
3
Lagophthalmos after congenital ptosis surgery: comparison between maximal levator resection and frontalis sling operation. 61
32651544 2021
4
Improved Eyelid Muscle Tension Balance With Refined Frontalis Muscle Flap Suspension in the Treatment of Severe Ptosis. 61
33782325 2021
5
Anterior approach levator plication for congenital ptosis, absorpable versus non absorpable sutures. 61
33765856 2021
6
A Comprehensive Approach to Asian Upper Eyelid Ptosis Correction: The Levator Musculo-Aponeurotic Junction Formula. 61
33655290 2021
7
Surgical correction of severe congenital ptosis using a modified frontalis muscle advancement technique: A single-arm trial. 61
33624537 2021
8
Amblyopia and Refractive Status in Congenital Ptosis: The Effect and Timing of Surgical Correction. 61
33538502 2021
9
Comparative evaluation of conventional and modified frontalis muscle flap advancement techniques in the treatment of severe congenital ptosis: A retrospective cohort study. 61
33529243 2021
10
Treatment of Congenital Ptosis in Infants With Associated Amblyopia Using a Frontalis Muscle Flap Eyelid Reanimation Technique. 61
32467524 2021
11
Relative Incidence and Demographics of Blepharoptosis Subtypes in a Tertiary Care Centre, South-South, Nigeria. 61
33296490 2020
12
[Surgical repair of a thigh muscle herniation with synthetic mesh]. 61
33275125 2020
13
Outcomes of conjunctival-Müller's muscle resection surgery with and without epinephrine in local anesthetic. 61
33153357 2020
14
A reformed "release hypothesis" for Marcus Gunn Syndrome, based on newer clinic observations and experimental evidences. 61
33254517 2020
15
[Unilateral ptosis in children]. 61
33739761 2020
16
Surgical Observations of the Levator Aponeurosis Fibrotic Changes in Simple Congenital Ptosis Suggest Complex Pathogenesis. 61
33156145 2020
17
Clinical efficacy of conjoint fascial sheath suspension and frontalis muscle suspension in treating moderate or severe congenital ptosis and the effects on ocular surface and refractive status. 61
32855698 2020
18
Single-triangle versus Fox pentagon frontalis suspension for unilateral severe congenital ptosis correction. 61
33045376 2020
19
Genetic analysis of children with congenital ocular anomalies in three ecological regions of Nepal: a phase II of Nepal pediatric ocular diseases study. 61
32962661 2020
20
Factors Affecting the Outcome of Frontalis Sling Surgery in Patients with Severe Blepharoptosis. 61
33133970 2020
21
Consanguineous-derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropia. 61
32529806 2020
22
Evaluation of intraoperative lagophthalmos formula for levator resection in congenital ptosis in Egyptian patients. 61
32806945 2020
23
Unilateral Frontalis Suspension With Silicone Sling Without Levator Extirpation in Congenital Ptosis With Marcus Gunn Jaw Winking Synkinesis. 61
31880686 2020
24
Strategies of upper blepharoplasty in aging patients with involutional ptosis. 61
32718105 2020
25
Anterior approach levatorpexy for correction of congenital ptosis. 61
31864609 2020
26
Outcomes of Early Correction of Congenital Myogenic Ptosis Using Transconjunctival Levator Plication. 61
32801437 2020
27
Re: "Müller's Muscle-conjunctival Resection Combined With Tarsectomy for Treatment of Congenital Ptosis". 61
32379210 2020
28
Reply re: "Müller's Muscle-conjunctival Resection Combined With Tarsectomy for Treatment of Congenital Ptosis". 61
32379211 2020
29
Histological findings of levator muscle in unilateral congenital ptosis in different age groups. 61
31654462 2020
30
Asymmetric Inferior Predilection of Lisch Nodules With Unilateral Ptosis. 61
31453921 2020
31
[Treatment of congenital ptosis in a low-income country: polypropylene frontalis sling at the African Institute of Tropical Ophthalmology]. 61
31858999 2020
32
Eyebrow Elevation as a Prognostic Factor for Success of Frontalis Suspension in Severe Congenital Ptosis. 61
32546941 2020
33
Does Frontalis Sling Surgery for Congenital Ptosis Change the Corneal Topography and Refractive Characteristics Postoperatively? 61
33154627 2020
34
Effects of congenital ptosis on the refractive development of eye and vision in children. 61
33215011 2020
35
Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants. 61
33745259 2020
36
A Modified Levator Resection to Improve Postoperative Lagophthalmos and Eyelid Lag. 61
31593049 2020
37
Inverse Bell's phenomenon: a rare complication of levator resection surgery in a case of congenital ptosis. 61
31791995 2019
38
Müller's Muscle-conjunctival Resection Combined With Tarsectomy for Treatment of Congenital Ptosis. 61
31162300 2019
39
Myopathic Blepharoptoses: A New Classification System. 61
31498270 2019
40
Supramaximal Levator Resection for Poor Function Congenital Ptosis. 61
30921059 2019
41
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. 61
31211835 2019
42
Orbital Septum Fibrosis in Congenital Ptosis Correlates With Eyelid Function: A Clinicopathologic Study. 61
30844911 2019
43
Surgical treatment of severe congenital ptosis using deep temporal fascia. 61
30325240 2019
44
Effect of frontal muscle aponeurosis flap suspension surgery for severe congenital ptosis in children. 61
26354415 2019
45
Surgical Timing for Congenital Ptosis Should Not Be Determined Solely by the Presence of Anisometropia. 61
30789542 2019
46
Intraoperative lagophthalmos formula for levator resection in congenital ptosis. 61
30049800 2019
47
A study of changes in levator muscle in congenital ptosis. 61
29705893 2019
48
Re: "Frontalis Muscle Flap Versus Maximum Anterior Levator Resection as the First Option for Patients With Severe Congenital Ptosis". 61
31793915 2019
49
Reply re: "Frontalis Muscle Flap Versus Maximum Anterior Levator Resection as the First Option for Patients With Severe Congenital Ptosis". 61
31793916 2019
50
The Sutureless Mullerectomy. 61
30844915 2019

Variations for Congenital Ptosis

ClinVar genetic disease variations for Congenital Ptosis:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZFHX4 NM_024721.5(ZFHX4):c.6141del (p.Pro2048fs) Deletion Pathogenic 1033644 GRCh37: 8:77765298-77765298
GRCh38: 8:76853062-76853062
2 ZFHX4 NM_024721.5(ZFHX4):c.6144_6145del (p.Pro2049fs) Deletion Pathogenic 1033645 GRCh37: 8:77765300-77765301
GRCh38: 8:76853064-76853065
3 COL25A1 NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg) SNV Pathogenic 180690 rs780209390 GRCh37: 4:109784483-109784483
GRCh38: 4:108863327-108863327
4 COL25A1 NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter) SNV Pathogenic 180691 rs886037741 GRCh37: 4:109767321-109767321
GRCh38: 4:108846165-108846165
5 COL25A1 COL25A1, 12.4-KB DEL Deletion Pathogenic 180692 GRCh37:
GRCh38:
6 MYH10 NM_001256012.2(MYH10):c.4505G>C (p.Arg1502Pro) SNV Pathogenic 625873 rs755969165 GRCh37: 17:8395781-8395781
GRCh38: 17:8492463-8492463
7 MYH10 NM_001256012.2(MYH10):c.4505G>C (p.Arg1502Pro) SNV Pathogenic 625873 rs755969165 GRCh37: 17:8395781-8395781
GRCh38: 17:8492463-8492463
8 RAB3GAP1 NM_012233.3(RAB3GAP1):c.151-5T>G SNV Pathogenic 996741 GRCh37: 2:135848563-135848563
GRCh38: 2:135090993-135090993
9 CHD8 NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys) SNV Likely pathogenic 870572 GRCh37: 14:21884051-21884051
GRCh38: 14:21415892-21415892
10 AHI1 NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu) SNV Uncertain significance 260843 rs755688765 GRCh37: 6:135752420-135752420
GRCh38: 6:135431282-135431282
11 ARFGEF1 , CSPP1 NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) SNV Uncertain significance 510229 rs201629827 GRCh37: 8:68102960-68102960
GRCh38: 8:67190725-67190725

Expression for Congenital Ptosis

Search GEO for disease gene expression data for Congenital Ptosis.

Pathways for Congenital Ptosis

Pathways related to Congenital Ptosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.39 MYH10 ACTG1 ACTB
2
Show member pathways
11.38 RYR1 MYH10 ACTG1 ACTB
3
Show member pathways
11.17 TUBB6 ACTG1 ACTB
4 10.54 ACTG1 ACTB

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 apical junction complex GO:0043296 9.26 ACTG1 ACTB
2 calyx of Held GO:0044305 9.16 ACTG1 ACTB
3 postsynaptic actin cytoskeleton GO:0098871 8.96 ACTG1 ACTB
4 dense body GO:0097433 8.62 ACTG1 ACTB

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

# Name GO ID Score Top Affiliating Genes
1 cell junction assembly GO:0034329 9.16 ACTG1 ACTB
2 postsynaptic actin cytoskeleton organization GO:0098974 8.96 ACTG1 ACTB
3 morphogenesis of a polarized epithelium GO:0001738 8.8 AHI1 ACTG1 ACTB

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.13 TUBB6 ACTG1 ACTB
2 structural constituent of postsynaptic actin cytoskeleton GO:0098973 8.62 ACTG1 ACTB

Sources for Congenital Ptosis

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