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


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 ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are epicanthus and vision/eye

Related Diseases for Epicanthus

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 blepharophimosis, ptosis, and epicanthus inversus 34.5 BPESC1 FOXL2 FOXP2
2 blepharophimosis 30.4 BPESC1 FOXL2 FOXP2 KAT6B RBP1 TWIST1
3 ptosis 29.9 ANKRD11 BPESC1 FOXL2 TWIST1 UBE3B
4 rhizomelic chondrodysplasia punctata, type 1 10.8
5 rhizomelic chondrodysplasia punctata, type 2 10.8
6 kaufman oculocerebrofacial syndrome 10.8
7 peroxisomal acyl-coa oxidase deficiency 10.8
8 rhizomelic chondrodysplasia punctata, type 3 10.8
9 rhizomelic chondrodysplasia punctata, type 5 10.8
10 van maldergem syndrome 10.8
11 phenobarbital antenatal exposure 10.8
12 premature ovarian failure 3 10.5 FOXL2 FOXL2NB LINC01391
13 ohdo syndrome, sbbys variant 10.4 FOXL2 KAT6B
14 craniosynostosis 1 10.3 KAT6B TWIST1
15 myopathy, distal, 1 10.3 MIR208B MYH7
16 myosin storage myopathy 10.2 MIR208B MYH7
17 eyelid disease 10.2 FOXL2 KAT6B UBE3B
18 telecanthus 10.1
19 ohdo syndrome 10.1 FOXL2 KAT6B
20 type i 10.0
21 microcephaly 9.9
22 hypogonadism 9.9
23 epiblepharon 9.9
24 premature ovarian failure 1 9.8
25 brachydactyly 9.8
26 ovarian disease 9.8
27 axenfeld-rieger syndrome 9.8
28 dandy-walker complex 9.8
29 scapuloperoneal myopathy 9.8 MIR208B MYH7
30 strabismus 9.7
31 vesicoureteral reflux 1 9.7
32 persistent hyperplastic primary vitreous, autosomal recessive 9.7
33 aging 9.7
34 propionic acidemia 9.7
35 alopecia 9.7
36 keratoconus 9.7
37 congenital hypothyroidism 9.7
38 congenital ptosis 9.7
39 amblyopia 9.7
40 premature menopause 9.7
41 spastic diplegia 9.7
42 hydronephrosis 9.7
43 entropion 9.7
44 amenorrhea 9.7
45 hypothyroidism 9.7
46 ectropion 9.7
47 phimosis 9.7
48 ovarian cyst 9.7
49 refractive error 9.7
50 alopecia areata 9.7

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

Publications for Epicanthus

Articles related to Epicanthus:

(show top 50) (show all 132)
# 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
Upper Arch Flap Combined with Extended Incision of Lower Eyelid: A Modified Epicanthoplasty in Correcting Epicanthus. ( 29922841 )
2018
5
Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosisa89-ptosis-epicanthus inversus syndrome. ( 28849110 )
2017
6
Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome. ( 28511421 )
2017
7
Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 28924383 )
2017
8
Relationship between lower eyelid epiblepharon and epicanthus in Korean children. ( 29161299 )
2017
9
[Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome]. ( 28604951 )
2017
10
Re: Duarte etA al.: Lacrimal gland involvement in blepharophimosis-ptosis-epicanthus inversus syndrome (Ophthalmology. 2017;124:399-406). ( 29055375 )
2017
11
Restoration of Complicated Epicanthus: Modified Reverse Skin Redraping With Mini-epicanthoplasty for Rescue in Unsatisfied Epicanthoplasty Patients. ( 28177970 )
2017
12
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome. ( 27283035 )
2016
13
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209 )
2016
14
De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome. ( 28503614 )
2016
15
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. ( 27488160 )
2016
16
Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 27914838 )
2016
17
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1. ( 26100530 )
2015
18
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype. ( 26506042 )
2015
19
Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome. ( 25416281 )
2015
20
A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome. ( 27081523 )
2015
21
A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome. ( 25988799 )
2015
22
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 26323275 )
2015
23
Reconsideration of the Epicanthus: Evolution of the Eyelid and the Devolutional Concept of Asian Blepharoplasty. ( 26306084 )
2015
24
A Rare Association of Childhood Alopecia Areata and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: Successfully Treated with Diphenylcyclopropenone. ( 26180454 )
2015
25
Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. ( 24725350 )
2014
26
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). ( 25192944 )
2014
27
Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report. ( 24597293 )
2014
28
Cosmetic Comparison Between the Modified Uchida Method and the Mustarde Method for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 25180952 )
2014
29
A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I. ( 24030029 )
2014
30
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24722273 )
2014
31
One-stage correction of blepharophimosis-ptosis-epicanthus inversus syndrome using a frontalis muscle transfer technique. ( 23968369 )
2014
32
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. ( 24458743 )
2014
33
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. ( 23513057 )
2013
34
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24212221 )
2013
35
A Modified Staged Surgical Intervention for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: 125 Cases With Encouraging Results. ( 24164792 )
2013
36
Differential Apoptotic and Proliferative Activities of Wild-type FOXL2 and Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)-associated Mutant FOXL2 Proteins. ( 24240106 )
2013
37
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 23044971 )
2012
38
A new method of medial epicanthoplasty for patients with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 22835816 )
2012
39
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
40
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
41
A rare cause of congenital ptosis: Blepharophimosis, ptosis and epicanthus inversus syndrome. ( 23560022 )
2012
42
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female. ( 22906557 )
2012
43
[Mutation analysis of FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome]. ( 22336067 )
2011
44
Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients. ( 21325395 )
2011
45
Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). ( 21068205 )
2011
46
Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination, and histopathologic examination. ( 22159675 )
2011
47
The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). ( 21957947 )
2011
48
De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay. ( 21471554 )
2011
49
Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome. ( 21562436 )
2011
50
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 21825186 )
2011

Variations for Epicanthus

ClinVar genetic disease variations for Epicanthus:

6
(show all 35)
# 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 MYH7 NM_000257.3(MYH7): c.3667G> A (p.Glu1223Lys) single nucleotide variant Uncertain significance rs794727410 GRCh37 Chromosome 14, 23889113: 23889113
4 MYH7 NM_000257.3(MYH7): c.3667G> A (p.Glu1223Lys) single nucleotide variant Uncertain significance rs794727410 GRCh38 Chromosome 14, 23419904: 23419904
5 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh37 Chromosome 16, 89347633: 89347633
6 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh38 Chromosome 16, 89281225: 89281225
7 46;XY;t(3;17)(p14.3;q24.3)dn Translocation Likely pathogenic
8 46;XX;ins(1;2)(p34.2;q22q24)dn Translocation Uncertain significance
9 complex Pathogenic
10 46;XY;t(1;5)(p35.3;q31.3)dn Translocation Pathogenic
11 46;XX;t(3;12)(q13.2;q14)dn Translocation Pathogenic
12 46;XX;t(5;13)(q15;q32)dn Translocation Uncertain significance
13 46;XY;t(1;9;5)(compleX)dn Translocation Likely pathogenic
14 46;XY;t(7;19)(q32;q13.1)dn Translocation Pathogenic
15 46;XX;t(1;5)(p31;q33)dn Translocation Likely pathogenic
16 46;XX;inv(2)(p23q31)dn inversion Pathogenic
17 46;X;t(X;12)(p11.2;q24.33)dn Translocation Likely pathogenic
18 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance
19 46;XX;t(6;15)(q23;q22)dn Translocation Likely pathogenic
20 Translocation Likely pathogenic
21 46;XY;t(4;14)(p14;q11.2)dn Translocation Uncertain significance
22 46;XY;t(5;15)(q11.2;q24) Translocation Pathogenic
23 46;XY;inv(6)(p22q13)dn inversion Pathogenic
24 46;XX;t(5;17)(p15.31~32;q25.3)dn Translocation Uncertain significance
25 46;XY;t(2;10)(p25;q26)dn Translocation Pathogenic
26 46;XX;t(19;21)(q13.3;q22.3)dn Translocation Pathogenic
27 46;XY;t(18;20)(q21.1;p11.23)dn Translocation Uncertain significance
28 TCF4 NM_001243226.2(TCF4): c.806-1G> A single nucleotide variant Pathogenic rs1057518864 GRCh38 Chromosome 18, 55350409: 55350409
29 TCF4 NM_001243226.2(TCF4): c.806-1G> A single nucleotide variant Pathogenic rs1057518864 GRCh37 Chromosome 18, 53017640: 53017640
30 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh37 Chromosome 6, 10398926: 10398927
31 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh38 Chromosome 6, 10398693: 10398694
32 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic GRCh37 Chromosome 10, 76784742: 76784745
33 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic GRCh38 Chromosome 10, 75024984: 75024987
34 LMBR1; RNF32 GRCh37/hg19 7q36.3(chr7: 156333296-156556779) copy number gain Uncertain significance GRCh37 Chromosome 7, 156333296: 156556779
35 LMBR1; MNX1; NOM1 GRCh37/hg19 7q36.3(chr7: 156656444-156866708) copy number gain Uncertain significance GRCh37 Chromosome 7, 156656444: 156866708

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:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.88 FOXF2 FOXL2 KAT6B TCF4 TFAP2A TWIST1
2 positive regulation of transcription, DNA-templated GO:0045893 9.77 FOXF2 FOXL2 KAT6B TCF4 TFAP2A
3 roof of mouth development GO:0060021 9.43 FOXF2 TFAP2A TWIST1
4 eyelid development in camera-type eye GO:0061029 9.32 TFAP2A TWIST1
5 anatomical structure morphogenesis GO:0009653 9.26 ANKRD11 FOXF2 FOXL2 FOXP2
6 negative regulation of transcription, DNA-templated GO:0045892 9.17 FOXF2 FOXL2 FOXP2 KAT6B SOX14 TFAP2A
7 transition between fast and slow fiber GO:0014883 9.16 MIR208B MYH7

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.8 FOXF2 FOXL2 FOXP2 TCF4 TFAP2A TWIST1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.67 FOXL2 FOXP2 TCF4 TFAP2A
3 sequence-specific DNA binding GO:0043565 9.55 FOXF2 FOXL2 FOXP2 SOX14 TFAP2A
4 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.5 FOXF2 FOXL2 FOXP2 SOX14 TCF4 TFAP2A
5 DNA binding GO:0003677 9.28 ATR FOXF2 FOXL2 FOXP2 KAT6B SOX14
6 bHLH transcription factor binding GO:0043425 9.26 TCF4 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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