BPES
MCID: BLP032
MIFTS: 42

Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 (BPES) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

About this section

Aliases & Descriptions for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:

Name: Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 52 12
Blepharophimosis, Ptosis, and Epicanthus Inversus 52 23 24 25 39 68
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 35 11 25 70 13
Blepharophimosis Syndrome 23 24 25 70
Bpes 23 24 25 70
Blepharophimosis Syndrome Type 1 48 27 68
Blepharophimosis Syndrome Type 2 48 27 68
Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome 54 27
Blepharophimosis, Ptosis, and Epicanthus Inversus Without Premature Ovarian Failure 48
Blepharophimosis, Ptosis, Epicanthus Inversus with Ovarian Failure 48
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 48
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 48
Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 2 52
Blepharophimosis, Ptosis, and Epicanthus Inversus Type Ii 24
Blepharophimosis, Ptosis, and Epicanthus Inversus Type 2 24
Blepharophimosis, Ptosis, and Epicanthus Inversus Type 1 24
Blepharophimosis, Ptosis, and Epicanthus Inversus Type I 24
 
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome 11
Bpes Without Premature Ovarian Failure 48
Bpes with Premature Ovarian Failure 48
Autosomal Recessive Bpes Type I 70
Autosomal Dominant Bpes Type I 70
Blepharophimosis Types 1 and 2 54
Bpes Without Ovarian Failure 70
Bpes with Ovarian Failure 70
Bpes Type Ii 70
Bpes Type 2 48
Bpes Type 1 48
Bpes Type I 70
Bpes Ii 24
Bpes I 24
Bpes 2 24
Bpes 1 24

Characteristics:

Orphanet epidemiological data:

54
blepharophimosis-epicanthus inversus-ptosis syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
blepharophimosis, epicanthus inversus, and ptosis, type 1:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: to date, almost all individuals heterozygous for a foxl2 pathogenic variant have the bpes phenotype; thus, penetrance is nearly complete for the eyelid phenotype...


Classifications:



External Ids:

OMIM52 110100
Disease Ontology11 DOID:14778
SNOMED-CT62 79833006
Orphanet54 ORPHA126
ICD10 via Orphanet31 Q10.3

Summaries for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

About this section
NIH Rare Diseases:48 Blepharophimosis, ptosis and epicanthus inversus syndrome type 1 (bpes i) is a condition, present at birth, that mainly effects the development of the eyelids.  people with this condition have narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus).  because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited.  blepharophimosis syndrome type 1 also causes premature ovarian failure (pof).  this condition is caused by mutations in the foxl2 gene and is inherited in an autosomal dominant pattern. last updated: 6/6/2011

MalaCards based summary: Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1, also known as blepharophimosis, ptosis, and epicanthus inversus, is related to blepharophimosis and blepharophimosis-epicanthus inversus-ptosis due to copy number variations, and has symptoms including Array, Array and Array. An important gene associated with Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 is FOXL2 (Forkhead Box L2). Affiliated tissues include skin, eye and breast, and related mouse phenotype Decreased shRNA abundance (Z-score < -2).

Genetics Home Reference:25 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited.

UniProtKB/Swiss-Prot:70 Blepharophimosis, ptosis, and epicanthus inversus syndrome: A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the inner canthus. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects.

Description from OMIM:52 110100

GeneReviews for NBK1441

Related Diseases for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

About this section

Graphical network of the top 20 diseases related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:



Diseases related to blepharophimosis, epicanthus inversus, and ptosis, type 1

Symptoms & Phenotypes for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

About this section

Symptoms by clinical synopsis from OMIM:

110100

Clinical features from OMIM:

110100

Human phenotypes related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:

 54 64 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epicanthus64 54 Very frequent (99-80%) HP:0000286
2 strabismus64 54 Occasional (29-5%) HP:0000486
3 blepharophimosis64 54 Very frequent (99-80%) HP:0000581
4 abnormality of the lacrimal duct64 54 Frequent (79-30%) HP:0011481
5 precocious menopause64 54 Frequent (79-30%) HP:0100805
6 ptosis64 54 Very frequent (99-80%) HP:0000508
7 myopia64 54 Frequent (79-30%) HP:0000545
8 nystagmus64 54 Occasional (29-5%) HP:0000639
9 synophrys64 54 Occasional (29-5%) HP:0000664
10 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
11 amenorrhea64 HP:0000141
12 high palate64 HP:0000218
13 cupped ear64 HP:0000378
14 wide nasal bridge64 HP:0000431
15 microcornea64 HP:0000482
16 telecanthus64 HP:0000506
17 epicanthus inversus64 HP:0000537
18 hypermetropia64 HP:0000540
19 microphthalmia64 HP:0000568
20 abnormality of the breast64 HP:0000769
21 increased circulating gonadotropin level64 HP:0000837
22 abnormality of the hair64 HP:0001595
23 premature ovarian failure64 HP:0008209
24 female infertility64 HP:0008222

GenomeRNAi Phenotypes related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-848.7DIAPH2, HNF1B, NR5A1

Drugs & Therapeutics for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1


Cochrane evidence based reviews: blepharophimosis, ptosis, and epicanthus inversus

Genetic Tests for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

About this section

Genetic tests related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:

id Genetic test Affiliating Genes
1 Blepharophimosis, Ptosis, and Epicanthus Inversus27 24 FOXL2
2 Blepharophimosis Syndrome Type 127
3 Blepharophimosis Syndrome Type 227
4 Bpes I24
5 Bpes Ii24

Anatomical Context for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

About this section

MalaCards organs/tissues related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:

36
Skin, Eye, Breast

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:
id TissueAnatomical CompartmentCell Relevance
1 OvaryPrimordial FolliclePre-Granulosa Cells Affected by disease

Publications for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

About this section

Variations for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

About this section

UniProtKB/Swiss-Prot genetic disease variations for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:

70 (show all 24)
id Symbol AA change Variation ID SNP ID
1FOXL2p.Ile84SerVAR_016883rs28937884
2FOXL2p.Leu106PheVAR_016885
3FOXL2p.Asn109LysVAR_016886
4FOXL2p.Ser217PheVAR_016887rs797044527
5FOXL2p.Ser58LeuVAR_021196
6FOXL2p.Ala66ValVAR_021197
7FOXL2p.Glu69LysVAR_021198rs387906920
8FOXL2p.His104ArgVAR_021199
9FOXL2p.Asn105SerVAR_021200
10FOXL2p.Lys193ArgVAR_021202
11FOXL2p.Tyr215CysVAR_021203
12FOXL2p.Met65ValVAR_046490
13FOXL2p.Ile80ThrVAR_046491
14FOXL2p.Ile84AsnVAR_046492
15FOXL2p.Phe90SerVAR_046493
16FOXL2p.Trp98GlyVAR_046494
17FOXL2p.Ser101ArgVAR_046495
18FOXL2p.Ile102ThrVAR_046496
19FOXL2p.Arg103CysVAR_046497
20FOXL2p.Leu106ProVAR_046498
21FOXL2p.Ile63ThrVAR_062545
22FOXL2p.Trp98ArgVAR_062546
23FOXL2p.Leu108ProVAR_062547
24FOXL2p.Ser217CysVAR_062549

Clinvar genetic disease variations for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:

5 (show all 55)
id Gene Variation Type Significance SNP ID Assembly Location
1FOXL2NM_ 023067.3(FOXL2): c.142_ 173del32insGCGCT (p.Lys48_ Ser58delinsAlaLeu)indelPathogenicrs672601357GRCh37Chr 3, 138665392: 138665423
2FOXL2NM_ 023067.3(FOXL2): c.965_ 983dup19 (p.Thr329Glnfs)duplicationPathogenicrs672601358GRCh37Chr 3, 138664582: 138664600
3FOXL2NM_ 023067.3(FOXL2): c.843_ 859dup17 (p.Pro287Argfs)duplicationPathogenicrs672601359GRCh37Chr 3, 138664706: 138664722
4FOXL2NM_ 023067.3(FOXL2): c.650C> T (p.Ser217Phe)SNVPathogenicrs797044527GRCh38Chr 3, 138946073: 138946073
5FOXL2NP_ 075555.1: p.Ala221(15_ 24)undetermined variantPathogenic
6FOXL2NM_ 023067.3(FOXL2): c.841_ 857dup17 (p.Pro287Argfs)duplicationPathogenicrs797044529GRCh38Chr 3, 138945866: 138945882
7FOXL2NM_ 023067.3(FOXL2): c.843_ 865dup23 (p.His289Argfs)duplicationPathogenicrs797044530GRCh38Chr 3, 138945858: 138945880
8FOXL2NM_ 023067.3(FOXL2): c.854delC (p.Pro285Argfs)deletionPathogenicrs797044531GRCh38Chr 3, 138945869: 138945869
9FOXL2NM_ 023067.3(FOXL2): c.15C> A (p.Tyr5Ter)SNVPathogenicrs1057516139GRCh37Chr 3, 138665550: 138665550
10FOXL2NM_ 023067.3(FOXL2): c.43delC (p.Leu15Cysfs)deletionPathogenicrs1057516140GRCh37Chr 3, 138665522: 138665522
11FOXL2NM_ 023067.3(FOXL2): c.171C> G (p.Tyr57Ter)SNVPathogenicrs1057516141GRCh37Chr 3, 138665394: 138665394
12FOXL2NM_ 023067.3(FOXL2): c.173C> A (p.Ser58Ter)SNVPathogenicrs1057516142GRCh37Chr 3, 138665392: 138665392
13FOXL2NM_ 023067.3(FOXL2): c.187A> C (p.Ile63Leu)SNVLikely pathogenicrs1057516144GRCh37Chr 3, 138665378: 138665378
14FOXL2NM_ 023067.3(FOXL2): c.195G> A (p.Met65Ile)SNVLikely pathogenicrs1057516145GRCh37Chr 3, 138665370: 138665370
15FOXL2NM_ 023067.3(FOXL2): c.205G> T (p.Glu69Ter)SNVPathogenicrs387906920GRCh38Chr 3, 138946518: 138946518
16FOXL2NM_ 023067.3(FOXL2): c.292T> C (p.Trp98Arg)SNVLikely pathogenicrs1057516149GRCh38Chr 3, 138946431: 138946431
17FOXL2NM_ 023067.3(FOXL2): c.293G> A (p.Trp98Ter)SNVPathogenicrs1057516150GRCh38Chr 3, 138946430: 138946430
18FOXL2NM_ 023067.3(FOXL2): c.303C> G (p.Ser101Arg)SNVLikely pathogenicrs1057516151GRCh37Chr 3, 138665262: 138665262
19FOXL2NM_ 023067.3(FOXL2): c.311A> G (p.His104Arg)SNVLikely pathogenicrs1057516153GRCh38Chr 3, 138946412: 138946412
20FOXL2NM_ 023067.3(FOXL2): c.316C> T (p.Leu106Phe)SNVLikely pathogenicrs1057516156GRCh38Chr 3, 138946407: 138946407
21FOXL2NM_ 023067.3(FOXL2): c.319A> G (p.Ser107Gly)SNVLikely pathogenicrs1057516157GRCh37Chr 3, 138665246: 138665246
22FOXL2NM_ 023067.3(FOXL2): c.338delT (p.Ile113Thrfs)deletionPathogenicrs1057516158GRCh38Chr 3, 138946385: 138946385
23FOXL2NM_ 023067.3(FOXL2): c.340A> G (p.Lys114Glu)SNVLikely pathogenicrs1057516159GRCh37Chr 3, 138665225: 138665225
24FOXL2NM_ 023067.3(FOXL2): c.353_ 476dup124 (p.His159Glnfs)duplicationPathogenicGRCh38Chr 3, 138946247: 138946370
25FOXL2NM_ 023067.3(FOXL2): c.576dupC (p.Lys193Glnfs)duplicationPathogenicrs1057516161GRCh38Chr 3, 138946147: 138946147
26FOXL2NM_ 023067.3(FOXL2): c.582C> G (p.Tyr194Ter)SNVPathogenicrs1057516163GRCh37Chr 3, 138664983: 138664983
27FOXL2NM_ 023067.3(FOXL2): c.612G> A (p.Trp204Ter)SNVPathogenicrs1057516164GRCh37Chr 3, 138664953: 138664953
28FOXL2NM_ 023067.3(FOXL2): c.618delA (p.Pro207Argfs)deletionPathogenicrs1057516165GRCh37Chr 3, 138664947: 138664947
29FOXL2NM_ 023067.3(FOXL2): c.630_ 651dup22 (p.Cys218Leufs)duplicationPathogenicrs1057516166GRCh37Chr 3, 138664914: 138664935
30FOXL2NM_ 023067.3(FOXL2): c.632C> A (p.Ser211Ter)SNVPathogenicrs1057516167GRCh37Chr 3, 138664933: 138664933
31FOXL2NM_ 023067.3(FOXL2): c.644A> G (p.Tyr215Cys)SNVPathogenicrs1057516168GRCh38Chr 3, 138946079: 138946079
32FOXL2NM_ 023067.3(FOXL2): c.662_ 689del28 (p.Ala221Glyfs)deletionPathogenicrs1057516170GRCh38Chr 3, 138946034: 138946061
33FOXL2NM_ 023067.3(FOXL2)duplicationPathogenicrs1057516171GRCh38Chr 3, 138946031: 138946060
34FOXL2NM_ 023067.3(FOXL2): c.674_ 695del22 (p.Ala225Glufs)deletionPathogenicrs1057516172GRCh37Chr 3, 138664870: 138664891
35FOXL2NM_ 023067.3(FOXL2)duplicationPathogenicrs1057516173GRCh37Chr 3, 138664862: 138664891
36FOXL2NM_ 023067.3(FOXL2): c.678_ 705del28 (p.Ala227Profs)deletionPathogenicrs1057516174GRCh38Chr 3, 138946018: 138946045
37FOXL2NM_ 023067.3(FOXL2): c.748_ 749delGG (p.Gly250Profs)deletionPathogenicrs1057516175GRCh38Chr 3, 138945974: 138945975
38FOXL2NM_ 023067.3(FOXL2): c.777dupA (p.Arg260Thrfs)duplicationPathogenicrs1057516176GRCh37Chr 3, 138664788: 138664788
39FOXL2NM_ 023067.3(FOXL2): c.804delC (p.Gly269Alafs)deletionPathogenicrs1057516177GRCh37Chr 3, 138664761: 138664761
40FOXL2NM_ 023067.3(FOXL2): c.827dupG (p.Leu277Profs)duplicationPathogenicrs1057516178GRCh38Chr 3, 138945896: 138945896
41FOXL2NM_ 023067.3(FOXL2): c.840_ 871del32 (p.Ala283Serfs)deletionPathogenicrs1057516179GRCh38Chr 3, 138945852: 138945883
42FOXL2NM_ 023067.3(FOXL2): c.856_ 857delCCinsA (p.Pro286Ilefs)indelPathogenicrs1057516180GRCh38Chr 3, 138945866: 138945867
43FOXL2NM_ 023067.3(FOXL2): c.892dupC (p.His298Profs)duplicationPathogenicrs1057516181GRCh38Chr 3, 138945831: 138945831
44FOXL2NM_ 023067.3(FOXL2): c.907_ 926dup20 (p.His312Argfs)duplicationPathogenicrs1057516182GRCh37Chr 3, 138664639: 138664658
45FOXL2NM_ 023067.3(FOXL2): c.951_ 961dupGCCGCCGGGCC (p.Gln321Argfs)duplicationPathogenicrs1057516183GRCh38Chr 3, 138945762: 138945772
46FOXL2NM_ 023067.3(FOXL2): c.982delG (p.Ala328Profs)deletionPathogenicrs1057516184GRCh37Chr 3, 138664583: 138664583
47FOXL2NM_ 023067.3(FOXL2): c.1011delC (p.Thr338Profs)deletionPathogenicrs1057516185GRCh38Chr 3, 138945712: 138945712
48FOXL2NM_ 023067.3(FOXL2): c.490A> T (p.Lys164Ter)SNVPathogenicrs1060499717GRCh38Chr 3, 138946233: 138946233
49FOXL2NM_ 023067.3(FOXL2): c.655C> T (p.Gln219Ter)SNVPathogenicrs104893741GRCh37Chr 3, 138664910: 138664910
50FOXL2NM_ 023067.3(FOXL2)duplicationPathogenicrs387906321GRCh37Chr 3, 138664864: 138664893
51FOXL2NM_ 023067.3(FOXL2): c.804dupC (p.Gly269Argfs)duplicationPathogenicrs797044528GRCh37Chr 3, 138664761: 138664761
52FOXL2NM_ 023067.3(FOXL2): c.855_ 871del17 (p.Pro287Alafs)deletionPathogenicrs797044533GRCh37Chr 3, 138664694: 138664710
53FOXL2NM_ 023067.3(FOXL2): c.586C> T (p.Gln196Ter)SNVPathogenicrs104893739GRCh37Chr 3, 138664979: 138664979
54FOXL2NM_ 023067.3(FOXL2): c.855_ 871dup17 (p.His291Argfs)duplicationPathogenicrs797044532GRCh37Chr 3, 138664694: 138664710
55FOXL2NM_ 023067.3(FOXL2): c.560G> A (p.Gly187Asp)SNVPathogenicrs121908359GRCh37Chr 3, 138665005: 138665005

Copy number variations for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11686633131500000156300000MicrodeletionFOXL2Blepharophimosis-ptosis-epicanthus inversus syndrome
21691693138663066138665982DeletionFOXL2Blepharophimosis-ptosis-epicanthus inversus syndrome
31693333140145755140148491DeletionFOXL2Blepharophimosis syndrome
41693343140145755140148491DeletionFOXL2Blepharophimosis syndrome

Expression for genes affiliated with Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

About this section
Search GEO for disease gene expression data for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1.

Pathways for genes affiliated with Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

About this section

GO Terms for genes affiliated with Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

About this section

Cellular components related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056547.8FOXL2, HNF1B, NR5A1, RFC2, ZIC1

Biological processes related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1ovarian follicle developmentGO:000154110.3BMP15, FOXL2
2female gamete generationGO:000729210.2BMP15, DIAPH2
3female gonad developmentGO:000858510.0FOXL2, NR5A1
4positive regulation of transcription from RNA polymerase II promoterGO:00459449.1FOXL2, HNF1B, NR5A1, ZIC1
5cell differentiationGO:00301549.1DIAPH2, FOXL2, NR5A1, ZIC1
6transcription from RNA polymerase II promoterGO:00063668.9FOXL2, NR5A1, ZIC1
7positive regulation of transcription, DNA-templatedGO:00458938.6BMP15, FOXL2, HNF1B, NR5A1, ZIC1

Molecular functions related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.9HNF1B, NR5A1
2sequence-specific DNA bindingGO:00435659.5FOXL2, HNF1B, NR5A1
3DNA bindingGO:00036778.5FOXL2, HNF1B, NR5A1, RFC2, ZIC1
4transcription factor activity, sequence-specific DNA bindingGO:00037008.4FOXL2, HNF1B, NR5A1, ZIC1

Sources for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet