Aliases & Classifications for Epicanthus

MalaCards integrated aliases for Epicanthus:

Name: Epicanthus 57 29 55 6

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
epicanthus:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 131500
MedGen 42 C0678230
SNOMED-CT via HPO 69 263681008

Summaries for Epicanthus

OMIM : 57 Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100). (131500)

MalaCards based summary : Epicanthus is related to blepharophimosis, ptosis, and epicanthus inversus and blepharophimosis. An important gene associated with Epicanthus is ANKRD11 (Ankyrin Repeat Domain 11), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Acetylcholine and Acetylcholine Release Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are epicanthus and growth/size/body region

Wikipedia : 76 The epicanthic fold is the skin fold of the upper eyelid, covering the inner corner (medial canthus) of... more...

Related Diseases for Epicanthus

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 blepharophimosis, ptosis, and epicanthus inversus 34.2 FOXP2 FOXL2
2 blepharophimosis 31.5 UBE3B TWIST1 RBP1 FOXP2 FOXL2
3 ptosis 31.1 UBE3B TWIST1 FOXL2 ANKRD11
4 amblyopia 29.7 TFAP2A FOXL2
5 rhizomelic chondrodysplasia punctata, type 1 11.0
6 rhizomelic chondrodysplasia punctata, type 2 11.0
7 kaufman oculocerebrofacial syndrome 11.0
8 3mc syndrome 1 11.0
9 peroxisomal acyl-coa oxidase deficiency 11.0
10 rhizomelic chondrodysplasia punctata, type 3 11.0
11 rhizomelic chondrodysplasia punctata, type 5 11.0
12 van maldergem syndrome 11.0
13 collins pope syndrome 11.0
14 epiphyseal dysplasia hearing loss dysmorphism 11.0
15 phenobarbital antenatal exposure 11.0
16 ring chromosome 6 11.0
17 tetrasomy 21 11.0
18 tetrasomy 9p 11.0
19 telecanthus 10.3
20 microcephaly 10.1
21 hypogonadism 10.1
22 epiblepharon 10.1
23 eyelid disease 10.1 UBE3B FOXL2
24 distichiasis 10.0
25 premature ovarian failure 1 10.0
26 brachydactyly 10.0
27 ovarian disease 10.0
28 axenfeld-rieger syndrome 10.0
29 dandy-walker complex 10.0
30 hemidystonia 10.0 TWIST1 ATP1A3
31 esotropia 9.9 TFAP2A ANKRD11
32 hypertelorism 9.9 TWIST1 TFAP2A ANKRD11
33 strabismus 9.9
34 vesicoureteral reflux 1 9.9
35 persistent hyperplastic primary vitreous, autosomal recessive 9.9
36 propionic acidemia 9.9
37 alopecia 9.9
38 keratoconus 9.9
39 congenital hypothyroidism 9.9
40 congenital ptosis 9.9
41 premature menopause 9.9
42 spastic diplegia 9.9
43 hydronephrosis 9.9
44 entropion 9.9
45 amenorrhea 9.9
46 hypothyroidism 9.9
47 ectropion 9.9
48 phimosis 9.9
49 ovarian cyst 9.9
50 refractive error 9.9

Graphical network of the top 20 diseases related to Epicanthus:



Diseases related to Epicanthus

Symptoms & Phenotypes for Epicanthus

Symptoms via clinical synopsis from OMIM:

57
Eyes:
epicanthus


Clinical features from OMIM:

131500

Human phenotypes related to Epicanthus:

32
# Description HPO Frequency HPO Source Accession
1 epicanthus 32 HP:0000286

MGI Mouse Phenotypes related to Epicanthus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 ANKRD11 ATP1A3 FOXF2 FOXL2 RBP1 TCF4
2 behavior/neurological MP:0005386 9.91 ANKRD11 ATP1A3 FOXF2 TCF4 TFAP2A TWIST1
3 mortality/aging MP:0010768 9.76 ANKRD11 ATP1A3 FOXF2 FOXL2 TCF4 TFAP2A
4 hearing/vestibular/ear MP:0005377 9.56 ANKRD11 RBP1 TFAP2A UBE3B
5 nervous system MP:0003631 9.5 ATP1A3 FOXF2 RBP1 TCF4 TFAP2A TWIST1
6 vision/eye MP:0005391 9.17 ANKRD11 FOXF2 FOXL2 RBP1 TCF4 TFAP2A

Drugs & Therapeutics for Epicanthus

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 3 51-84-3 187
2 Acetylcholine Release Inhibitors Phase 3
3 abobotulinumtoxinA Phase 3
4 Cholinergic Agents Phase 3
5 Neurotransmitter Agents Phase 3
6 Neuromuscular Agents Phase 3
7 Peripheral Nervous System Agents Phase 3
8 Botulinum Toxins, Type A Phase 3
9 onabotulinumtoxinA Phase 3
10 Botulinum Toxins Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Botulinum Toxin to Improve Results in Epicanthoplasty Recruiting NCT03294382 Phase 3 Botulinum toxin type A;Placebo
2 A Multi Center Clinical Trial of Rph With the Simplified Milligan-Morgan Surgery on Treatment of Mixed Hemorrhoids Unknown status NCT02306421 Not Applicable

Search NIH Clinical Center for Epicanthus

Genetic Tests for Epicanthus

Genetic tests related to Epicanthus:

# Genetic test Affiliating Genes
1 Epicanthus 29

Anatomical Context for Epicanthus

MalaCards organs/tissues related to Epicanthus:

41
Skin, Eye

Publications for Epicanthus

Articles related to Epicanthus:

(show top 50) (show all 159)
# Title Authors Year
1
Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element. ( 29481440 )
2018
2
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 29339661 )
2018
3
Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency. ( 29378385 )
2018
4
Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome. ( 30029625 )
2018
5
Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 30234390 )
2018
6
Genomic Disruption of FOXL2 in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2: A Novel Deletion-Insertion Compound Mutation. ( 30246734 )
2018
7
Upper Arch Flap Combined with Extended Incision of Lower Eyelid: A Modified Epicanthoplasty in Correcting Epicanthus. ( 29922841 )
2018
8
Efficacy of Inverted "V" Release Surgery in the Correction of a Special Type of Epicanthus. ( 29992338 )
2018
9
Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosisa89-ptosis-epicanthus inversus syndrome. ( 28849110 )
2017
10
Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome. ( 28511421 )
2017
11
Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 28924383 )
2017
12
Relationship between lower eyelid epiblepharon and epicanthus in Korean children. ( 29161299 )
2017
13
[Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome]. ( 28604951 )
2017
14
Re: Duarte etA al.: Lacrimal gland involvement in blepharophimosis-ptosis-epicanthus inversus syndrome (Ophthalmology. 2017;124:399-406). ( 29055375 )
2017
15
Restoration of Complicated Epicanthus: Modified Reverse Skin Redraping With Mini-epicanthoplasty for Rescue in Unsatisfied Epicanthoplasty Patients. ( 28177970 )
2017
16
Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 27914838 )
2017
17
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome. ( 27283035 )
2016
18
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209 )
2016
19
De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome. ( 28503614 )
2016
20
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. ( 27488160 )
2016
21
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1. ( 26100530 )
2015
22
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype. ( 26506042 )
2015
23
Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome. ( 25416281 )
2015
24
A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome. ( 27081523 )
2015
25
A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome. ( 25988799 )
2015
26
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 26323275 )
2015
27
Reconsideration of the Epicanthus: Evolution of the Eyelid and the Devolutional Concept of Asian Blepharoplasty. ( 26306084 )
2015
28
A Rare Association of Childhood Alopecia Areata and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: Successfully Treated with Diphenylcyclopropenone. ( 26180454 )
2015
29
Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. ( 24725350 )
2014
30
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). ( 25192944 )
2014
31
Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report. ( 24597293 )
2014
32
Cosmetic Comparison Between the Modified Uchida Method and the Mustarde Method for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 25180952 )
2014
33
A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I. ( 24030029 )
2014
34
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24722273 )
2014
35
One-stage correction of blepharophimosis-ptosis-epicanthus inversus syndrome using a frontalis muscle transfer technique. ( 23968369 )
2014
36
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. ( 24458743 )
2014
37
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. ( 23513057 )
2013
38
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24212221 )
2013
39
A Modified Staged Surgical Intervention for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: 125 Cases With Encouraging Results. ( 24164792 )
2013
40
Differential Apoptotic and Proliferative Activities of Wild-type FOXL2 and Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)-associated Mutant FOXL2 Proteins. ( 24240106 )
2013
41
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 23044971 )
2012
42
A new method of medial epicanthoplasty for patients with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 22835816 )
2012
43
Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay. ( 21934608 )
2012
44
The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients. ( 22926839 )
2012
45
A rare cause of congenital ptosis: Blepharophimosis, ptosis and epicanthus inversus syndrome. ( 23560022 )
2012
46
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female. ( 22906557 )
2012
47
Parotid tuberculosis associated with cutaneous tuberculosis on a medial epicanthus. ( 23163079 )
2012
48
[Mutation analysis of FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome]. ( 22336067 )
2011
49
Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients. ( 21325395 )
2011
50
Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). ( 21068205 )
2011

Variations for Epicanthus

ClinVar genetic disease variations for Epicanthus:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A3 NM_001256214.1(ATP1A3): c.449C> T (p.Ser150Phe) single nucleotide variant Pathogenic rs542652468 GRCh38 Chromosome 19, 41986177: 41986177
2 ATP1A3 NM_001256214.1(ATP1A3): c.449C> T (p.Ser150Phe) single nucleotide variant Pathogenic rs542652468 GRCh37 Chromosome 19, 42490329: 42490329
3 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh37 Chromosome 16, 89347633: 89347633
4 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh38 Chromosome 16, 89281225: 89281225
5 TCF4 NM_001243226.2(TCF4): c.806-1G> A single nucleotide variant Pathogenic rs1057518864 GRCh38 Chromosome 18, 55350409: 55350409
6 TCF4 NM_001243226.2(TCF4): c.806-1G> A single nucleotide variant Pathogenic rs1057518864 GRCh37 Chromosome 18, 53017640: 53017640
7 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh37 Chromosome 6, 10398926: 10398927
8 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh38 Chromosome 6, 10398693: 10398694
9 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic GRCh37 Chromosome 10, 76784742: 76784745
10 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic GRCh38 Chromosome 10, 75024984: 75024987
11 LMBR1; RNF32 GRCh37/hg19 7q36.3(chr7: 156333296-156556779) copy number gain Uncertain significance GRCh37 Chromosome 7, 156333296: 156556779
12 LMBR1; MNX1; NOM1 GRCh37/hg19 7q36.3(chr7: 156656444-156866708) copy number gain Uncertain significance GRCh37 Chromosome 7, 156656444: 156866708
13 MYH7 NM_000257.3(MYH7): c.3667G> A (p.Glu1223Lys) single nucleotide variant Uncertain significance rs794727410 GRCh38 Chromosome 14, 23419904: 23419904
14 MYH7 NM_000257.3(MYH7): c.3667G> A (p.Glu1223Lys) single nucleotide variant Uncertain significance rs794727410 GRCh37 Chromosome 14, 23889113: 23889113

Expression for Epicanthus

Search GEO for disease gene expression data for Epicanthus.

Pathways for Epicanthus

Pathways related to Epicanthus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 TCF4 TFAP2A TWIST1

GO Terms for Epicanthus

Biological processes related to Epicanthus according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.83 FOXF2 FOXL2 FOXP2 TCF4 TFAP2A
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.76 FOXL2 FOXP2 TFAP2A TWIST1
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.65 FOXF2 FOXL2 TCF4 TFAP2A TWIST1
4 positive regulation of transcription, DNA-templated GO:0045893 9.62 FOXF2 FOXL2 TCF4 TFAP2A
5 positive regulation of epithelial cell proliferation GO:0050679 9.49 FOXP2 TWIST1
6 bone development GO:0060348 9.48 ANKRD11 TWIST1
7 embryonic cranial skeleton morphogenesis GO:0048701 9.4 TFAP2A TWIST1
8 embryonic forelimb morphogenesis GO:0035115 9.37 TFAP2A TWIST1
9 eyelid development in camera-type eye GO:0061029 9.16 TFAP2A TWIST1
10 roof of mouth development GO:0060021 9.13 FOXF2 TFAP2A TWIST1
11 negative regulation of transcription, DNA-templated GO:0045892 9.02 FOXF2 FOXL2 FOXP2 TFAP2A TWIST1

Molecular functions related to Epicanthus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.85 FOXF2 FOXL2 FOXP2 TCF4 TFAP2A TWIST1
2 protein homodimerization activity GO:0042803 9.78 FOXP2 TCF4 TFAP2A TWIST1
3 sequence-specific DNA binding GO:0043565 9.71 FOXF2 FOXL2 FOXP2 TFAP2A
4 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.63 FOXL2 TCF4 TFAP2A
5 protein dimerization activity GO:0046983 9.5 TCF4 TFAP2A TWIST1
6 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.46 FOXL2 FOXP2 TCF4 TFAP2A
7 E-box binding GO:0070888 9.43 TCF4 TWIST1
8 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 FOXF2 FOXL2 FOXP2 TCF4 TFAP2A TWIST1
9 bHLH transcription factor binding GO:0043425 9.26 TCF4 TWIST1
10 DNA-binding transcription factor activity GO:0003700 9.1 FOXF2 FOXL2 FOXP2 TCF4 TFAP2A TWIST1

Sources for Epicanthus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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