MCID: CNG513
MIFTS: 42

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 49 C27049
SNOMED-CT 67 268163008
ICD10 32 Q10.0
ICD10 via Orphanet 33 Q10.0
UMLS via Orphanet 72 C0266573
Orphanet 58 ORPHA91411
UMLS 71 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 MYH10 (Myosin Heavy Chain 10), and among its related pathways/superpathways are Oxytocin signaling pathway and EPHA forward signaling. The drugs Lidocaine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and skin, 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 32.6 ZFHX4 PTOS1
2 marcus gunn phenomenon 32.0 ZFHX4 PHOX2A KIF21A FOXL2
3 amblyopia 30.5 PHOX2A PAX6 KIF21A FOXL2 CRYAA
4 hypotropia 29.9 TNNI3K PHOX2A KIF21A
5 keratitis, hereditary 29.8 PHOX2A PAX6 KIF21A CRYAA
6 strabismus 29.8 TNNI3K ROBO3 PHOX2A PAX6 KIF21A CRYAA
7 esotropia 29.7 ROBO3 PHOX2A PAX6 KIF21A CRYAA
8 pathologic nystagmus 29.6 ROBO3 PAX6 CRYAA AHI1
9 hypertropia 29.5 TNNI3K ROBO3 PHOX2A KIF21A
10 exotropia 29.5 TNNI3K ROBO3 PHOX2A PAX6 KIF21A CRYAA
11 coloboma of macula 29.4 PAX6 MYH10 CSPP1 CRYAA CHD8 AHI1
12 intraocular pressure quantitative trait locus 29.4 PAX6 CRYAA ACHE
13 tukel syndrome 29.3 TNNI3K ROBO3 PHOX2A KIF21A COL25A1
14 ptosis 28.1 ZFHX4 TNNI3K RYR1 PTOS1 PHOX2A PAX6
15 baraitser-winter syndrome 1 11.0
16 baraitser-winter syndrome 2 11.0
17 suppression amblyopia 10.6
18 mechanical strabismus 10.5
19 baraitser-winter cerebrofrontofacial syndrome 10.5 ACTG1 ACTB
20 anisometropia 10.4
21 astigmatism 10.4
22 lagophthalmos 10.4
23 blepharophimosis 10.3
24 refractive error 10.3
25 autosomal dominant non-syndromic intellectual disability 1 10.3
26 joubert syndrome 21 10.3 CSPP1 ARFGEF1
27 myotonic cataract 10.3 PHOX2A KIF21A
28 fibrosis of extraocular muscles, congenital, 2 10.3 PHOX2A KIF21A
29 paralytic squint 10.2 PHOX2A KIF21A
30 hypertelorism 10.2 PAX6 MYH10 ACTG1 ACTB
31 microphthalmia, isolated 5 10.2 PHOX2A KIF21A
32 disuse amblyopia 10.2
33 congenital aphakia 10.2 PAX6 C1QBP
34 joint laxity, short stature, and myopia 10.2
35 myopia 10.2
36 lens disease 10.2 PAX6 CRYAA ACTB
37 cycloplegia 10.1
38 alternating exotropia 10.1
39 orbital disease 10.1 PHOX2A KIF21A CRYAA
40 enophthalmos 10.1 TNNI3K PHOX2A CRYAA
41 eyelid disease 10.1 PAX6 FOXL2 CRYAA
42 aniridia 1 10.1
43 epicanthus 10.1
44 monocular esotropia 10.1
45 entropion 10.1
46 keratopathy 10.1
47 cranial nerve disease 10.1 PHOX2A KIF21A CRYAA
48 duane-radial ray syndrome 10.0 ROBO3 PHOX2A KIF21A
49 eye degenerative disease 10.0 PAX6 CRYAA ACTB
50 axenfeld-rieger syndrome, type 1 10.0 PAX6 CRYAA

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ACHE ACTB ACTG1 AHI1 ARFGEF1 CHD8
2 cellular MP:0005384 10.18 AHI1 ARFGEF1 C1QBP CHD8 COL25A1 KIF21A
3 growth/size/body region MP:0005378 10.1 ACHE ACTB ACTG1 AHI1 C1QBP CHD8
4 homeostasis/metabolism MP:0005376 10.07 ACHE ACTB AHI1 CHD8 COL25A1 FOXL2
5 mortality/aging MP:0010768 10.03 ACHE ACTB ACTG1 AHI1 ARFGEF1 C1QBP
6 embryo MP:0005380 9.97 ACTB ACTG1 C1QBP CHD8 KIF21A MYH10
7 muscle MP:0005369 9.61 ACHE ACTB ACTG1 COL25A1 KIF21A MYH10
8 nervous system MP:0003631 9.4 ACHE ACTB ACTG1 AHI1 ARFGEF1 CHD8

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
Lidocaine Approved, Vet_approved 137-58-6 3676
2
Epinephrine Approved, Vet_approved 51-43-4 5816
3
Racepinephrine Approved 329-65-7 838
4 Anesthetics
5 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Polytetrafluoroethylene (Ptose-up) in Management of Severe Congenital Blepharoptosis Completed NCT04214379
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 Evaluation of Intraoperative Lagophthalmos Formula for Levator Resection in Congenital Ptosis on Egyptian Patients Completed NCT04291625

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, Heart, Skin

Publications for Congenital Ptosis

Articles related to Congenital Ptosis:

(show top 50) (show all 479)
# 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. 54 61
1313543 1992
3
Consanguineous-derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropia. 61
32529806 2020
4
Anterior approach levatorpexy for correction of congenital ptosis. 61
31864609 2020
5
Re: "Müller's Muscle-conjunctival Resection Combined With Tarsectomy for Treatment of Congenital Ptosis". 61
32379210 2020
6
Reply re: "Müller's Muscle-conjunctival Resection Combined With Tarsectomy for Treatment of Congenital Ptosis". 61
32379211 2020
7
Histological findings of levator muscle in unilateral congenital ptosis in different age groups. 61
31654462 2020
8
Treatment of Congenital Ptosis in Infants With Associated Amblyopia Using a Frontalis Muscle Flap Eyelid Reanimation Technique. 61
32467524 2020
9
Asymmetric Inferior Predilection of Lisch Nodules With Unilateral Ptosis. 61
31453921 2020
10
[Treatment of congenital ptosis in a low-income country: polypropylene frontalis sling at the African Institute of Tropical Ophthalmology]. 61
31858999 2020
11
A Modified Levator Resection to Improve Postoperative Lagophthalmos and Eyelid Lag. 61
31593049 2020
12
Eyebrow Elevation as a Prognostic Factor for Success of Frontalis Suspension in Severe Congenital Ptosis. 61
32546941 2020
13
Inverse Bell's phenomenon: a rare complication of levator resection surgery in a case of congenital ptosis. 61
31791995 2019
14
Unilateral Frontalis Suspension With Silicone Sling Without Levator Extirpation in Congenital Ptosis With Marcus Gunn Jaw Winking Synkinesis. 61
31880686 2019
15
Myopathic Blepharoptoses: A New Classification System. 61
31498270 2019
16
Müller's Muscle-conjunctival Resection Combined With Tarsectomy for Treatment of Congenital Ptosis. 61
31162300 2019
17
Supramaximal Levator Resection for Poor Function Congenital Ptosis. 61
30921059 2019
18
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. 61
31211835 2019
19
Orbital Septum Fibrosis in Congenital Ptosis Correlates With Eyelid Function: A Clinicopathologic Study. 61
30844911 2019
20
Surgical treatment of severe congenital ptosis using deep temporal fascia. 61
30325240 2019
21
Effect of frontal muscle aponeurosis flap suspension surgery for severe congenital ptosis in children. 61
26354415 2019
22
Surgical Timing for Congenital Ptosis Should Not Be Determined Solely by the Presence of Anisometropia. 61
30789542 2019
23
A study of changes in levator muscle in congenital ptosis. 61
29705893 2019
24
Intraoperative lagophthalmos formula for levator resection in congenital ptosis. 61
30049800 2019
25
Re: "Frontalis Muscle Flap Versus Maximum Anterior Levator Resection as the First Option for Patients With Severe Congenital Ptosis". 61
31793915 2019
26
Reply re: "Frontalis Muscle Flap Versus Maximum Anterior Levator Resection as the First Option for Patients With Severe Congenital Ptosis". 61
31793916 2019
27
The Sutureless Mullerectomy. 61
30844915 2019
28
Malignant hyperthermia in a 4-year-old girl during anesthesia induction with sevoflurane and succinylcholine for congenital ptosis surgery. 61
31384166 2019
29
Types of materials for frontalis sling surgery for congenital ptosis. 61
31013353 2019
30
Pre-aponeurotic Fat Prolapse Following Levator Resection for Congenital Ptosis. 61
30747974 2019
31
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing. 61
30936914 2019
32
Transient Inverse Bell's Phenomenon Following Frontalis Sling-Suspension Ptosis Surgery: A Rare Ophthalmic Phenomenon. 61
31802953 2019
33
Modified Combined Fascia Sheath and Levator Muscle Complex Suspension With Müller Muscle Preservation on Treating Severe Congenital Ptosis. 61
30325839 2019
34
Prevalence of amblyopia in congenital blepharoptosis: a systematic review and Meta-analysis. 61
31341812 2019
35
Effect of Eyelid Crease Formation on Aesthetic Outcomes post Frontalis Suspension for Unilateral Ptosis. 61
30859028 2019
36
Frontalis Muscle Flap Versus Maximal Anterior Levator Resection as First Option for Patients With Severe Congenital Ptosis. 61
29659435 2018
37
Long-term functional and aesthetic evaluation of using a single rhomboid-shaped fascial strip for severe congenital unilateral blepharoptosis. 61
30172732 2018
38
Factors related to amblyopia in congenital ptosis after frontalis sling surgery. 61
30463547 2018
39
Isolated left upper eyelid ptosis with pansinusitis and contralateral otitis media in a 9-year-old boy. 61
30051000 2018
40
Symmetry of Upper Eyelid Contour After Unilateral Blepharoptosis Repair With a Single-strip Frontalis Suspension Technique. 61
29329174 2018
41
Revision Surgery for Undercorrected Blepharoptosis After Frontalis Sling Operation Using Autogenous Fascia Lata. 61
29923964 2018
42
Improving Outcomes of Posterior Approach Levatorpexy for Congenital Ptosis With Reduced Levator Function. 61
29369150 2018
43
Small-incision levator resection for correction of congenital ptosis: a prospective study. 61
29744575 2018
44
Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. 61
30200099 2018
45
Clinical and Demographic Characteristics of Blepharoptosis in Korea: A 24-year Experience including 2,328 Patients. 61
30091302 2018
46
Long-Term Effects of Frontalis Fascial Slings on the Elastic Properties of the Upper Eyelid. 61
29673273 2018
47
Amblyopia, Strabismus and Refractive Errors in Congenital Ptosis: a systematic review and meta-analysis. 61
29844360 2018
48
Simultaneous Versus Sequential Ptosis and Strabismus Surgery in Children. 61
28661930 2018
49
Hering's Law in Congenital Ptosis: Evaluation of the Contralateral Response to Unilateral Congenital Ptosis Repair. 61
28723733 2018
50
SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss. 61
29315086 2018

Variations for Congenital Ptosis

ClinVar genetic disease variations for Congenital Ptosis:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH10 NM_001256012.2(MYH10):c.4505G>C (p.Arg1502Pro)SNV Pathogenic 625873 17:8395781-8395781 17:8492463-8492463
2 CHD8 NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys)SNV Likely pathogenic 870572 14:21884051-21884051 14:21415892-21415892
3 AHI1 NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu)SNV Conflicting interpretations of pathogenicity 260843 rs755688765 6:135752420-135752420 6:135431282-135431282
4 CSPP1 NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly)SNV Conflicting interpretations of pathogenicity 510229 rs201629827 8:68102960-68102960 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 RYR1 MYH10 ACTG1 ACTB
2
Show member pathways
11.19 MYH10 ACTG1 ACTB
3 10.43 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 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 axonogenesis GO:0007409 9.43 PAX6 MYH10 ACTB
2 retina development in camera-type eye GO:0060041 9.33 PAX6 MYH10 ACHE
3 cell junction assembly GO:0034329 9.32 ACTG1 ACTB
4 postsynaptic actin cytoskeleton organization GO:0098974 9.13 MYH10 ACTG1 ACTB
5 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 ATP binding GO:0005524 9.5 TNNI3K RYR1 MYH10 KIF21A CHD8 ACTG1
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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