MCID: CNG513
MIFTS: 39

Congenital Ptosis

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Congenital Ptosis

MalaCards integrated aliases for Congenital Ptosis:

Name: Congenital Ptosis 12 59 55 6 15 33

Characteristics:

Orphanet epidemiological data:

59
congenital ptosis
Inheritance: Autosomal dominant,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060261
ICD9CM 35 743.61
NCIt 50 C27049
SNOMED-CT 68 60938005 61989004
ICD10 33 Q10.0
ICD10 via Orphanet 34 Q10.0
UMLS via Orphanet 73 C0266573
Orphanet 59 ORPHA91411
UMLS 72 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 exotropia and hypertropia. An important gene associated with Congenital Ptosis is MYH10 (Myosin Heavy Chain 10), and among its related pathways/superpathways are Immune response CCR3 signaling in eosinophils and G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins. Affiliated tissues include eye, heart and skin, and related phenotypes are behavior/neurological and mortality/aging

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 92)
# Related Disease Score Top Affiliating Genes
1 exotropia 29.4 TNNI3K KIF21A
2 hypertropia 29.3 KIF21A FOXL2
3 tukel syndrome 28.8 TNNI3K KIF21A
4 ptosis 28.7 ZFHX4 RYR1 PAX6 KIF21A FOXL2 COL25A1
5 ptosis, hereditary congenital 1 11.4
6 marcus gunn phenomenon 11.4
7 baraitser-winter syndrome 1 11.0
8 baraitser-winter syndrome 2 11.0
9 suppression amblyopia 10.6
10 amblyopia 10.6
11 strabismus 10.5
12 mechanical strabismus 10.5
13 baraitser-winter cerebrofrontofacial syndrome 10.5 ACTG1 ACTB
14 anisometropia 10.4
15 hypotonia-cystinuria syndrome 10.4 ACTG1 ACTB
16 astigmatism 10.4
17 lagophthalmos 10.4
18 joubert syndrome 21 10.4 CSPP1 ARFGEF1
19 blepharophimosis 10.3
20 refractive error 10.3
21 coloboma, ocular, autosomal dominant 10.3 PAX6 ACTG1
22 autosomal dominant non-syndromic intellectual disability 1 10.3
23 baraitser-winter syndrome 10.2 ACTG1 ACTB
24 disuse amblyopia 10.2
25 myopia 10.2
26 cycloplegia 10.1
27 aniridia 1 10.1
28 epicanthus 10.1
29 monocular esotropia 10.1
30 alternating exotropia 10.1
31 entropion 10.1
32 esotropia 10.1
33 blepharophimosis, ptosis, and epicanthus inversus 10.0
34 keratopathy 10.0
35 myopathy 10.0
36 malignant hyperthermia 10.0
37 keratitis, hereditary 9.9
38 torticollis 9.9
39 scoliosis 9.9
40 ametropic amblyopia 9.9
41 cellulitis 9.9
42 cataract 9.9
43 exposure keratitis 9.9
44 microcephaly 9.9
45 axenfeld-rieger syndrome, type 1 9.8 PAX6 FOXL2
46 axenfeld-rieger syndrome 9.8 PAX6 COL25A1
47 cleft palate, isolated 9.8
48 coloboma of macula 9.8
49 duane retraction syndrome 1 9.8
50 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.8

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 ACTB ACTG1 AHI1 ARFGEF1 COL25A1 MYH10
2 mortality/aging MP:0010768 9.61 ACTB ACTG1 AHI1 ARFGEF1 COL25A1 FOXL2
3 muscle MP:0005369 9.17 ACTB ACTG1 COL25A1 MYH10 PAX6 RYR1

Drugs & Therapeutics for Congenital Ptosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

Search NIH Clinical Center for Congenital Ptosis

Genetic Tests for Congenital Ptosis

Anatomical Context for Congenital Ptosis

MalaCards organs/tissues related to Congenital Ptosis:

41
Eye, Heart, Skin

Publications for Congenital Ptosis

Articles related to Congenital Ptosis:

(show top 50) (show all 463)
# Title Authors PMID Year
1
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. 71
25500261 2015
2
A congenital myasthenic syndrome refractory to acetylcholinesterase inhibitors. 9 38
1313543 1992
3
Surgical treatment of severe congenital ptosis using deep temporal fascia. 38
30325240 2019
4
Effect of frontal muscle aponeurosis flap suspension surgery for severe congenital ptosis in children. 38
26354415 2019
5
Surgical Timing for Congenital Ptosis Should Not Be Determined Solely by the Presence of Anisometropia. 38
30789542 2019
6
A study of changes in levator muscle in congenital ptosis. 38
29705893 2019
7
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. 38
31211835 2019
8
Intraoperative lagophthalmos formula for levator resection in congenital ptosis. 38
30049800 2019
9
Müller's Muscle-conjunctival Resection Combined With Tarsectomy for Treatment of Congenital Ptosis. 38
31162300 2019
10
Types of materials for frontalis sling surgery for congenital ptosis. 38
31013353 2019
11
Malignant hyperthermia in a 4-year-old girl during anesthesia induction with sevoflurane and succinylcholine for congenital ptosis surgery. 38
31384166 2019
12
Orbital Septum Fibrosis in Congenital Ptosis Correlates With Eyelid Function: A Clinicopathologic Study. 38
30844911 2019
13
The Sutureless Mullerectomy. 38
30844915 2019
14
Supramaximal Levator Resection for Poor Function Congenital Ptosis. 38
30921059 2019
15
Pre-aponeurotic Fat Prolapse Following Levator Resection for Congenital Ptosis. 38
30747974 2019
16
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing. 38
30936914 2019
17
Prevalence of amblyopia in congenital blepharoptosis: a systematic review and Meta-analysis. 38
31341812 2019
18
Modified Combined Fascia Sheath and Levator Muscle Complex Suspension With Müller Muscle Preservation on Treating Severe Congenital Ptosis. 38
30325839 2019
19
Effect of Eyelid Crease Formation on Aesthetic Outcomes post Frontalis Suspension for Unilateral Ptosis. 38
30859028 2019
20
Frontalis Muscle Flap Versus Maximal Anterior Levator Resection as First Option for Patients With Severe Congenital Ptosis. 38
29659435 2018
21
Long-term functional and aesthetic evaluation of using a single rhomboid-shaped fascial strip for severe congenital unilateral blepharoptosis. 38
30172732 2018
22
Factors related to amblyopia in congenital ptosis after frontalis sling surgery. 38
30463547 2018
23
Isolated left upper eyelid ptosis with pansinusitis and contralateral otitis media in a 9-year-old boy. 38
30051000 2018
24
Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. 38
30200099 2018
25
Symmetry of Upper Eyelid Contour After Unilateral Blepharoptosis Repair With a Single-strip Frontalis Suspension Technique. 38
29329174 2018
26
Revision Surgery for Undercorrected Blepharoptosis After Frontalis Sling Operation Using Autogenous Fascia Lata. 38
29923964 2018
27
Small-incision levator resection for correction of congenital ptosis: a prospective study. 38
29744575 2018
28
Improving Outcomes of Posterior Approach Levatorpexy for Congenital Ptosis With Reduced Levator Function. 38
29369150 2018
29
Clinical and Demographic Characteristics of Blepharoptosis in Korea: A 24-year Experience including 2,328 Patients. 38
30091302 2018
30
Long-Term Effects of Frontalis Fascial Slings on the Elastic Properties of the Upper Eyelid. 38
29673273 2018
31
Hering's Law in Congenital Ptosis: Evaluation of the Contralateral Response to Unilateral Congenital Ptosis Repair. 38
28723733 2018
32
Simultaneous Versus Sequential Ptosis and Strabismus Surgery in Children. 38
28661930 2018
33
Amblyopia, Strabismus and Refractive Errors in Congenital Ptosis: a systematic review and meta-analysis. 38
29844360 2018
34
SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss. 38
29315086 2018
35
Ultrasound biomicroscopy image patterns in normal upper eyelid and congenital ptosis in the Indian population. 38
29480247 2018
36
Double Rhomboid Suture Technique for Congenital Ptosis. 38
29257186 2018
37
Tarsal buckle with conjunctival prolapse following levator plication for unilateral congenital ptosis. 38
29572371 2018
38
Determination of the Amount of Ptosis Correction in Levator Resection Surgery for Pediatric Congenital Ptosis. 38
29026970 2018
39
Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family. 38
29380764 2018
40
Therapeutic Algorithm for Congenital Ptosis Repair with Levator Resection and Frontalis Suspension: Results and Literature Review. 38
28296517 2018
41
Surgical treatment of unilateral severe simple congenital ptosis. 38
29675342 2018
42
Evaluation and Management of Unilateral Congenital Ptosis in a Healthy Child. 38
28910429 2017
43
Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy. 38
29456480 2017
44
Comment on "A Modified Levator Resection Technique Involving Retention of the Levator Palpebrae Superioris Muscle Suspension System for Treatment of Congenital Ptosis". 38
28550449 2017
45
Timing of surgical correction for the treatment of unilateral congenital ptosis: Effects on cosmetic and functional results. 38
28812934 2017
46
[Clinical characteristics and surgical effect observation of congenital aniridia combined with cataract]. 38
29141386 2017
47
[Whitnall's ligament suspension technique in ptosis surgery]. 38
29054480 2017
48
Levator resection for congenital ptosis: Does pre-operative levator function or degree of ptosis affect successful outcome? 38
28696799 2017
49
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. 38
29016863 2017
50
Congenital ptosis repair with a frontalis silicon sling: comparison between Fox's single pentagon technique and a modified Crawford double triangle technique. 38
28713059 2017

Variations for Congenital Ptosis

ClinVar genetic disease variations for Congenital Ptosis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MYH10 NM_001256012.2(MYH10): c.4505G> C (p.Arg1502Pro) single nucleotide variant Pathogenic 17:8395781-8395781 17:8492463-8492463
2 CSPP1 NM_024790.6(CSPP1): c.3281A> G (p.Glu1094Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201629827 8:68102960-68102960 8:67190725-67190725
3 AHI1 NM_001134831.2(AHI1): c.2299G> T (p.Val767Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs755688765 6:135752420-135752420 6:135431282-135431282

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 cytoplasm GO:0005737 9.65 TNNI3K RYR1 PAX6 MYH10 KIF21A CSPP1
2 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 platelet aggregation GO:0070527 9.32 ACTG1 ACTB
2 retina homeostasis GO:0001895 9.26 ACTG1 ACTB
3 regulation of cardiac conduction GO:1903779 9.16 TNNI3K RYR1
4 cell junction assembly GO:0034329 8.96 ACTG1 ACTB
5 postsynaptic actin cytoskeleton organization GO:0098974 8.62 MYH10 ACTB

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.26 ZFHX4 PAX6 FOXL2 ACTB
2 ATP binding GO:0005524 9.1 TNNI3K RYR1 MYH10 KIF21A 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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