Aliases & Classifications for Epicanthus

MalaCards integrated aliases for Epicanthus:

Name: Epicanthus 57 29 54 6

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
epicanthus:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 131500
MedGen 41 C0678230
SNOMED-CT via HPO 68 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) (Updated 20-May-2021)

MalaCards based summary : Epicanthus is related to blepharophimosis, ptosis, and epicanthus inversus and telecanthus. An important gene associated with Epicanthus is ABCC9 (ATP Binding Cassette Subfamily C Member 9). The drug Daminozide has been mentioned in the context of this disorder. Affiliated tissues include eye, ovary and pancreas, and related phenotypes are epicanthus and growth/size/body region

Wikipedia : 73 An epicanthic fold or epicanthus is a skin fold of the upper eyelid that covers the inner corner (medial... more...

Related Diseases for Epicanthus

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

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 blepharophimosis, ptosis, and epicanthus inversus 32.9 FOXP2 FOXL2 BPESC1
2 telecanthus 31.0 KAT6B FOXL2
3 ptosis 31.0 KAT6B FOXL2 BPESC1 ANKRD11
4 blepharophimosis 30.8 RBP1 KAT6B FOXP2 FOXL2 BPESC1
5 amblyopia 30.1 TFAP2A FOXL2
6 esotropia 29.5 TFAP2A ANKRD11
7 alacrima, achalasia, and mental retardation syndrome 28.9 TCF4 KCNQ2 KAT6B ANKRD11
8 46,xx sex reversal 5 11.0
9 syndromic epicanthus 11.0
10 jacobsen syndrome 10.8
11 rhizomelic chondrodysplasia punctata, type 1 10.8
12 rhizomelic chondrodysplasia punctata, type 2 10.8
13 kaufman oculocerebrofacial syndrome 10.8
14 peroxisomal acyl-coa oxidase deficiency 10.8
15 subaortic stenosis--short stature syndrome 10.8
16 rhizomelic chondrodysplasia punctata, type 3 10.8
17 rhizomelic chondrodysplasia punctata, type 5 10.8
18 intellectual developmental disorder with impaired language and dysmorphic facies 10.8
19 suleiman-el-hattab syndrome 10.8
20 3mc syndrome 10.8
21 van maldergem syndrome 10.8
22 rhizomelic chondrodysplasia punctata 10.8
23 collins pope syndrome 10.8
24 epiphyseal dysplasia hearing loss dysmorphism 10.8
25 phenobarbital antenatal exposure 10.8
26 ring chromosome 6 10.8
27 tetrasomy 21 10.8
28 tetrasomy 9p 10.8
29 premature menopause 10.5
30 suppression amblyopia 10.3
31 ovarian disease 10.2
32 strabismus 10.2
33 amenorrhea 10.2
34 hypogonadism 10.2
35 mechanical strabismus 10.2
36 epiblepharon 10.2
37 eyelid disease 10.2 KAT6B FOXL2
38 premature ovarian failure 1 10.1
39 microcephaly 10.1
40 entropion 10.1
41 infertility 10.1
42 congenital ptosis 10.1
43 ectropion 10.1
44 refractive error 10.1
45 kbg syndrome 10.0 KAT6B ANKRD11
46 cleft palate, isolated 9.9
47 distichiasis 9.9
48 down syndrome 9.9
49 brachydactyly 9.9
50 monocular esotropia 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:

31
# Description HPO Frequency HPO Source Accession
1 epicanthus 31 HP:0000286

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
epicanthus

Clinical features from OMIM®:

131500 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Epicanthus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.23 ABCC9 ANKRD11 ATP1A3 FOXL2 KCNQ2 RBP1

Drugs & Therapeutics for Epicanthus

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Daminozide 1596-84-5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Detection of Correlation Between Facial Measurements and Tooth Size and Pulp Volume Using Cone Beam Computed Tomography Recruiting NCT04346641

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:

40
Eye, Ovary, Pancreas, Heart, Skin, Brain, Bone

Publications for Epicanthus

Articles related to Epicanthus:

(show top 50) (show all 577)
# Title Authors PMID Year
1
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome. 54 61
20184535 2010
2
The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity. 54 61
20209145 2010
3
Identification of a novel mutation in FOXL2 gene that leads to blepharophimosis ptosis epicanthus inversus and telecanthus syndrome in a Tunisian consanguineous family. 61 54
19929410 2010
4
The forkhead factor FOXL2: a novel tumor suppressor? 54 61
19747961 2010
5
Foxl2 function in ovarian development. 54 61
16647286 2006
6
A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome. 61 54
16131596 2005
7
A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome. 54 61
16086270 2005
8
A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea: case report. 61 54
15459170 2004
9
FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences. 54 61
15081106 2004
10
The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance. 61 54
14736745 2004
11
Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian development. 61 54
12810580 2003
12
A fork in the road to fertility. 54 61
11175772 2001
13
Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene. 61 54
9727204 1998
14
Experience of Two Different Techniques of Medial Epicanthoplasty with Four-Point Homologous Design: A Cohort Study. 61
33797579 2021
15
Management of congenital lacrimal gland agenesis in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). 61
33423812 2021
16
The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome. 61
33806295 2021
17
Common Trajectories for Freehand Frontal Ventriculostomy: A Systematic Review. 61
33271380 2021
18
Medial Epicanthoplasty Using a Lower Palpebral Margin Incision Combined With a Tiny Triangular Flap. 61
33575878 2021
19
Complex genomic alterations and intellectual disability: an interpretative challenge. 61
33140510 2021
20
Modified Z-Epicanthoplasty Based on the Movement and Tension of Medial Canthal Area in Asian Females. 61
33587520 2021
21
Functional Studies of Novel FOXL2 Variants in Chinese Families With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. 61
33796131 2021
22
[Management of blepharophimosis, ptosis, epicanthus inversus syndrome at a referral center in Tunisia]. 61
33279286 2021
23
Dual-plane epicanthoplasty in Chinese blepharoplasty. 61
32314863 2020
24
Photogrammetric Analysis of Eyebrow and Eyelid Dimensions in Indian American Adults. 61
33136915 2020
25
Epicanthoplasty With Rotated-advanced-back Cut Flap. 61
33027181 2020
26
[Autosomal dominant intellectual disability-40 caused by a de novo mutation of the CHAMP1 gene: a case report]. 61
33059813 2020
27
Modified Infrabrow Excision Blepharoplasty for Severity of Medial Blepharochalasia. 61
32879873 2020
28
Photogrammetric Analysis of Eyebrow and Eyelid Dimensions in Indian American Adults. 61
32675767 2020
29
Reduction in Recurrence Rate by Combining Modified Hotz Procedure With Epicanthoplasty to Treat Congenital Epiblepharon. 61
32149850 2020
30
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report. 61
32311999 2020
31
Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association. 61
32904596 2020
32
A novel FOXL2 mutation in two infertile patients with blepharophimosis-ptosis-epicanthus inversus syndrome. 61
31823134 2020
33
Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations. 61
32454486 2020
34
Three rare disease diagnoses in one patient through exome sequencing. 61
31427378 2019
35
A rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction. 61
31752537 2019
36
A Novel Medial Canthal Reconstruction Technique in Children With Blepharophimosis Syndrome. 61
31033640 2019
37
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. 61
31422817 2019
38
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. 61
31077882 2019
39
Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report. 61
31366388 2019
40
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. 61
31048069 2019
41
Combined Transverse Incision and Pouch Incision for the Correction of Medial Epicanthus. 61
31299753 2019
42
The Effective Fixation Level for Cosmetic Lateral Canthoplasty. 61
30839464 2019
43
New STAT3-FOXL2 pathway and its function in cancer cells. 61
31221094 2019
44
A study of changes in levator muscle in congenital ptosis. 61
29705893 2019
45
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature. 61
31191203 2019
46
Correction of Congenital Telecanthus by Extended Medial Epicanthoplasty With Skin Redraping Method. 61
30870171 2019
47
Lower eyelid tension balance reconstruction: A new procedure for the repair of congenital epiblepharon with epicanthus. 61
30616908 2019
48
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 61
30827496 2019
49
[Effectiveness of upper eyelid rotation flap via blepharoplasty incision for correction of mild to moderate epicanthus]. 61
30739416 2019
50
Intraoperative Ventriculostomy Using K Point in Surgical Management of Aneurysmal Subarachnoid Hemorrhage. 61
30312820 2019

Variations for Epicanthus

ClinVar genetic disease variations for Epicanthus:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TCF4 NM_001083962.2(TCF4):c.500-1G>A SNV Pathogenic 374054 rs1057518864 GRCh37: 18:53017640-53017640
GRCh38: 18:55350409-55350409
2 ANKRD11 NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) SNV Pathogenic 242882 rs1114167291 GRCh37: 16:89347633-89347633
GRCh38: 16:89281225-89281225
3 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs) Deletion Pathogenic 523459 rs1554110735 GRCh37: 6:10398926-10398927
GRCh38: 6:10398693-10398694
4 ABCC9 NM_020297.3(ABCC9):c.3460C>T (p.Arg1154Trp) SNV Pathogenic 31946 rs387907208 GRCh37: 12:21995261-21995261
GRCh38: 12:21842327-21842327
5 ATP1A3 NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) SNV Pathogenic 161122 rs542652468 GRCh37: 19:42490329-42490329
GRCh38: 19:41986177-41986177
6 KAT6B NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs) Deletion Likely pathogenic 523499 rs1554844486 GRCh37: 10:76784742-76784745
GRCh38: 10:75024984-75024987
7 KCNQ2 NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) SNV Likely pathogenic 205892 rs796052641 GRCh37: 20:62069997-62069997
GRCh38: 20:63438644-63438644
8 MYH7 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) SNV Uncertain significance 195928 rs794727410 GRCh37: 14:23889113-23889113
GRCh38: 14:23419904-23419904
9 overlap with 2 genes GRCh37/hg19 7q36.3(chr7:156333296-156556779) copy number gain Uncertain significance 523286 GRCh37: 7:156333296-156556779
GRCh38:
10 overlap with 3 genes GRCh37/hg19 7q36.3(chr7:156656444-156866708) copy number gain Uncertain significance 523287 GRCh37: 7:156656444-156866708
GRCh38:

Expression for Epicanthus

Search GEO for disease gene expression data for Epicanthus.

Pathways for Epicanthus

GO Terms for Epicanthus

Cellular components related to Epicanthus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.02 TFAP2A TCF4 KAT6B FOXP2 FOXL2

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.62 TFAP2A TCF4 KAT6B FOXL2
2 negative regulation of transcription, DNA-templated GO:0045892 9.46 TFAP2A KAT6B FOXP2 FOXL2
3 regulation of cardiac conduction GO:1903779 9.37 ATP1A3 ABCC9
4 potassium ion import across plasma membrane GO:1990573 9.26 ATP1A3 ABCC9
5 potassium ion transport GO:0006813 9.13 KCNQ2 ATP1A3 ABCC9
6 potassium ion transmembrane transport GO:0071805 8.8 KCNQ2 ATP1A3 ABCC9

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 8.92 TFAP2A TCF4 FOXP2 FOXL2

Sources for Epicanthus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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