Aliases & Classifications for Epicanthus

MalaCards integrated aliases for Epicanthus:

Name: Epicanthus 58 30 56 6

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
epicanthus:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 131500
MedGen 43 C0678230
SNOMED-CT via HPO 70 263681008

Summaries for Epicanthus

OMIM : 58 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 TFAP2A (Transcription Factor AP-2 Alpha). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotypes are epicanthus and growth/size/body region

Wikipedia : 77 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 62)
# Related Disease Score Top Affiliating Genes
1 blepharophimosis, ptosis, and epicanthus inversus 34.4 FOXL2 FOXP2
2 blepharophimosis 31.6 FOXL2 FOXP2 KAT6B RBP1 UBE3B
3 ptosis 30.9 ANKRD11 FOXL2 KAT6B UBE3B
4 amblyopia 29.8 FOXL2 TFAP2A
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 subaortic stenosis--short stature syndrome 11.0
11 rhizomelic chondrodysplasia punctata, type 3 11.0
12 rhizomelic chondrodysplasia punctata, type 5 11.0
13 van maldergem syndrome 11.0
14 collins pope syndrome 11.0
15 epiphyseal dysplasia hearing loss dysmorphism 11.0
16 phenobarbital antenatal exposure 11.0
17 ring chromosome 6 11.0
18 tetrasomy 21 11.0
19 tetrasomy 9p 11.0
20 telecanthus 10.4
21 epiblepharon 10.2
22 ohdo syndrome 10.2 FOXL2 KAT6B
23 ohdo syndrome, sbbys variant 10.1 FOXL2 KAT6B
24 hypogonadism 10.1
25 hypogonadotropism 10.1
26 microcephaly 10.1
27 distichiasis 10.0
28 premature ovarian failure 1 10.0
29 brachydactyly 10.0
30 ovarian disease 10.0
31 dandy-walker complex 10.0
32 eyelid disease 10.0 FOXL2 KAT6B UBE3B
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 albright's hereditary osteodystrophy 9.9
42 suppression amblyopia 9.9
43 premature menopause 9.9
44 spastic diplegia 9.9
45 hydronephrosis 9.9
46 entropion 9.9
47 amenorrhea 9.9
48 hypothyroidism 9.9
49 axenfeld-rieger syndrome 9.9
50 ectropion 9.9

Graphical network of the top 20 diseases related to Epicanthus:



Diseases related to Epicanthus

Symptoms & Phenotypes for Epicanthus

Human phenotypes related to Epicanthus:

33
# Description HPO Frequency HPO Source Accession
1 epicanthus 33 HP:0000286

Symptoms via clinical synopsis from OMIM:

58
Eyes:
epicanthus

Clinical features from OMIM:

131500

MGI Mouse Phenotypes related to Epicanthus:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.76 ANKRD11 ATP1A3 FOXF2 FOXL2 RBP1 TCF4
2 hearing/vestibular/ear MP:0005377 9.26 ANKRD11 RBP1 TFAP2A UBE3B
3 vision/eye MP:0005391 9.1 ANKRD11 FOXF2 FOXL2 RBP1 TFAP2A UBE3B

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, Investigational Phase 3 51-84-3 187
2 Cholinergic Agents Phase 3
3 abobotulinumtoxinA Phase 3
4 Neuromuscular Agents Phase 3
5 Acetylcholine Release Inhibitors Phase 3
6 Neurotransmitter Agents 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 30

Anatomical Context for Epicanthus

MalaCards organs/tissues related to Epicanthus:

42
Skin, Eye, Testes

Publications for Epicanthus

Articles related to Epicanthus:

(show top 50) (show all 162)
# Title Authors Year
1
Combined Transverse Incision and Pouch Incision for the Correction of Medial Epicanthus. ( 30817545 )
2019
2
Lower eyelid tension balance reconstruction: A new procedure for the repair of congenital epiblepharon with epicanthus. ( 30616908 )
2019
3
Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations. ( 31077882 )
2019
4
Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus. ( 31048069 )
2019
5
Efficacy of Inverted "V" Release Surgery in the Correction of a Special Type of Epicanthus. ( 29992338 )
2018
6
Upper Arch Flap Combined with Extended Incision of Lower Eyelid: A Modified Epicanthoplasty in Correcting Epicanthus. ( 29922841 )
2018
7
Genomic Disruption of FOXL2 in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2: A Novel Deletion-Insertion Compound Mutation. ( 30246734 )
2018
8
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
9
Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome. ( 30029625 )
2018
10
Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element. ( 29481440 )
2018
11
Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency. ( 29378385 )
2018
12
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 29339661 )
2018
13
Relationship between lower eyelid epiblepharon and epicanthus in Korean children. ( 29161299 )
2017
14
Restoration of Complicated Epicanthus: Modified Reverse Skin Redraping With Mini-epicanthoplasty for Rescue in Unsatisfied Epicanthoplasty Patients. ( 28177970 )
2017
15
Re: Duarte et al.: Lacrimal gland involvement in blepharophimosis-ptosis-epicanthus inversus syndrome (Ophthalmology. 2017;124:399-406). ( 29055375 )
2017
16
Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 28924383 )
2017
17
Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome. ( 28849110 )
2017
18
Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome. ( 28511421 )
2017
19
Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 27914838 )
2017
20
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209 )
2017
21
[Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome]. ( 28604951 )
2017
22
De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome. ( 28503614 )
2016
23
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. ( 27488160 )
2016
24
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome. ( 27283035 )
2016
25
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype. ( 26506042 )
2016
26
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1. ( 26100530 )
2016
27
Reconsideration of the Epicanthus: Evolution of the Eyelid and the Devolutional Concept of Asian Blepharoplasty. ( 26306084 )
2015
28
A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome. ( 27081523 )
2015
29
Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome. ( 25416281 )
2015
30
Cosmetic Comparison Between the Modified Uchida Method and the Mustarde Method for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 25180952 )
2015
31
A modified staged surgical intervention for blepharophimosis-ptosis-epicanthus inversus syndrome: 125 cases with encouraging results. ( 24164792 )
2015
32
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 26323275 )
2015
33
A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome. ( 25988799 )
2015
34
A Rare Association of Childhood Alopecia Areata and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: Successfully Treated with Diphenylcyclopropenone. ( 26180454 )
2015
35
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). ( 25192944 )
2014
36
Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. ( 24725350 )
2014
37
Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report. ( 24597293 )
2014
38
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. ( 24458743 )
2014
39
Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-associated mutant FOXL2 proteins. ( 24240106 )
2014
40
A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I. ( 24030029 )
2014
41
One-stage correction of blepharophimosis-ptosis-epicanthus inversus syndrome using a frontalis muscle transfer technique. ( 23968369 )
2014
42
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24722273 )
2014
43
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. ( 23513057 )
2013
44
Parotid tuberculosis associated with cutaneous tuberculosis on a medial epicanthus. ( 23163079 )
2012
45
A rare cause of congenital ptosis: Blepharophimosis, ptosis and epicanthus inversus syndrome. ( 23560022 )
2012
46
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 23044971 )
2012
47
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
48
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female. ( 22906557 )
2012
49
A new method of medial epicanthoplasty for patients with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 22835816 )
2012
50
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

Variations for Epicanthus

ClinVar genetic disease variations for Epicanthus:

6 (show all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XX;t(5;13)(q15;q32)dn Translocation Uncertain significance
2 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic rs1554110735 GRCh37 Chromosome 6, 10398926: 10398927
3 TCF4 NM_001243226.2(TCF4): c.806-1G> A single nucleotide variant Pathogenic rs1057518864 GRCh37 Chromosome 18, 53017640: 53017640
4 TCF4 NM_001243226.2(TCF4): c.806-1G> A single nucleotide variant Pathogenic rs1057518864 GRCh38 Chromosome 18, 55350409: 55350409
5 46;XY;t(18;20)(q21.1;p11.23)dn Translocation Uncertain significance
6 46;XX;t(19;21)(q13.3;q22.3)dn Translocation Pathogenic
7 46;XY;t(2;10)(p25;q26)dn Translocation Pathogenic
8 46;XX;t(5;17)(p15.31~32;q25.3)dn Translocation Uncertain significance
9 46;XY;inv(6)(p22q13)dn inversion Pathogenic
10 46;XY;t(5;15)(q11.2;q24) Translocation Pathogenic
11 46;XY;t(4;14)(p14;q11.2)dn Translocation Uncertain significance
12 Translocation Likely pathogenic
13 46;XX;t(6;15)(q23;q22)dn Translocation Likely pathogenic
14 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance
15 46;X;t(X;12)(p11.2;q24.33)dn Translocation Likely pathogenic
16 46;XX;inv(2)(p23q31)dn inversion Pathogenic
17 46;XX;t(1;5)(p31;q33)dn Translocation Likely pathogenic
18 46;XY;t(7;19)(q32;q13.1)dn Translocation Pathogenic
19 46;XY;t(1;9;5)(compleX)dn Translocation Likely pathogenic
20 46;XX;t(3;12)(q13.2;q14)dn Translocation Pathogenic
21 46;XY;t(1;5)(p35.3;q31.3)dn Translocation Pathogenic
22 complex Pathogenic
23 46;XX;ins(1;2)(p34.2;q22q24)dn Translocation Uncertain significance
24 46;XY;t(3;17)(p14.3;q24.3)dn Translocation Likely pathogenic
25 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh38 Chromosome 16, 89281225: 89281225
26 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh37 Chromosome 16, 89347633: 89347633
27 MYH7 NM_000257.3(MYH7): c.3667G> A (p.Glu1223Lys) single nucleotide variant Uncertain significance rs794727410 GRCh38 Chromosome 14, 23419904: 23419904
28 MYH7 NM_000257.3(MYH7): c.3667G> A (p.Glu1223Lys) single nucleotide variant Uncertain significance rs794727410 GRCh37 Chromosome 14, 23889113: 23889113
29 ATP1A3 NM_001256214.1(ATP1A3): c.449C> T (p.Ser150Phe) single nucleotide variant Pathogenic rs542652468 GRCh37 Chromosome 19, 42490329: 42490329
30 ATP1A3 NM_001256214.1(ATP1A3): c.449C> T (p.Ser150Phe) single nucleotide variant Pathogenic rs542652468 GRCh38 Chromosome 19, 41986177: 41986177
31 LMBR1; MNX1; NOM1 GRCh37/hg19 7q36.3(chr7: 156656444-156866708) copy number gain Uncertain significance GRCh37 Chromosome 7, 156656444: 156866708
32 LMBR1; RNF32 GRCh37/hg19 7q36.3(chr7: 156333296-156556779) copy number gain Uncertain significance GRCh37 Chromosome 7, 156333296: 156556779
33 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic rs1554844486 GRCh38 Chromosome 10, 75024984: 75024987
34 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic rs1554844486 GRCh37 Chromosome 10, 76784742: 76784745
35 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic rs1554110735 GRCh38 Chromosome 6, 10398693: 10398694

Expression for Epicanthus

Search GEO for disease gene expression data for Epicanthus.

Pathways for Epicanthus

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 9.65 FOXF2 FOXL2 KAT6B TCF4 TFAP2A
2 regulation of transcription, DNA-templated GO:0006355 9.63 FOXF2 FOXL2 FOXP2 KAT6B TCF4 TFAP2A
3 positive regulation of transcription, DNA-templated GO:0045893 9.35 FOXF2 FOXL2 KAT6B TCF4 TFAP2A
4 roof of mouth development GO:0060021 9.32 FOXF2 TFAP2A
5 negative regulation of transcription, DNA-templated GO:0045892 9.02 FOXF2 FOXL2 FOXP2 KAT6B TFAP2A

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.72 FOXF2 FOXL2 FOXP2 TCF4 TFAP2A
2 DNA binding GO:0003677 9.63 FOXF2 FOXL2 FOXP2 KAT6B TCF4 TFAP2A
3 sequence-specific DNA binding GO:0043565 9.56 FOXF2 FOXL2 FOXP2 TFAP2A
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.26 FOXL2 FOXP2 TCF4 TFAP2A
5 DNA-binding transcription factor activity GO:0003700 9.02 FOXF2 FOXL2 FOXP2 TCF4 TFAP2A

Sources for Epicanthus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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