MCID: BLP032
MIFTS: 42

Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 malady

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

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

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

Name: Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 51 12
Blepharophimosis, Ptosis, and Epicanthus Inversus 51 23 24 25 38 67
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 34 11 25 69 13
Blepharophimosis Syndrome 23 24 25 69
Bpes 23 24 25 69
Blepharophimosis Syndrome Type 1 47 26 67
Blepharophimosis Syndrome Type 2 47 26 67
Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome 53 26
Blepharophimosis, Ptosis, and Epicanthus Inversus Without Premature Ovarian Failure 47
Blepharophimosis, Ptosis, Epicanthus Inversus with Ovarian Failure 47
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 47
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 47
Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 2 51
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 47
Bpes with Premature Ovarian Failure 47
Autosomal Recessive Bpes Type I 69
Autosomal Dominant Bpes Type I 69
Blepharophimosis Types 1 and 2 53
Bpes Without Ovarian Failure 69
Bpes with Ovarian Failure 69
Bpes Type Ii 69
Bpes Type 2 47
Bpes Type 1 47
Bpes Type I 69
Bpes Ii 24
Bpes I 24
Bpes 2 24
Bpes 1 24

Characteristics:

Orphanet epidemiological data:

53
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:

63
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:

OMIM51 110100
Disease Ontology11 DOID:14778
SNOMED-CT61 79833006
Orphanet53 ORPHA126
ICD10 via Orphanet30 Q10.3

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

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NIH Rare Diseases:47 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 epicanthus, ptosis and blepharophimosis. An important gene associated with Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 is FOXL2 (Forkhead Box L2). Affiliated tissues include skin, eye and breast.

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:69 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:51 110100

GeneReviews for NBK1441

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

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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 for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

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Symptoms by clinical synopsis from OMIM:

110100

Clinical features from OMIM:

110100

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

 63 53 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epicanthus63 53 hallmark (90%) Very frequent (99-80%) HP:0000286
2 ptosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000508
3 blepharophimosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000581
4 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
5 decreased fertility63 typical (50%) HP:0000144
6 myopia63 53 typical (50%) Frequent (79-30%) HP:0000545
7 lacrimation abnormality63 typical (50%) HP:0000632
8 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
9 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
10 synophrys63 53 occasional (7.5%) Occasional (29-5%) HP:0000664
11 amenorrhea63 HP:0000141
12 high palate63 HP:0000218
13 cupped ear63 HP:0000378
14 wide nasal bridge63 HP:0000431
15 microcornea63 HP:0000482
16 telecanthus63 HP:0000506
17 epicanthus inversus63 HP:0000537
18 hypermetropia63 HP:0000540
19 microphthalmia63 HP:0000568
20 abnormality of the breast63 HP:0000769
21 increased circulating gonadotropin level63 HP:0000837
22 abnormality of the hair63 HP:0001595
23 premature ovarian failure63 HP:0008209
24 female infertility63 HP:0008222
25 abnormality of the lacrimal duct53 Frequent (79-30%)
26 precocious menopause53 Frequent (79-30%)

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

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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

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

id Genetic test Affiliating Genes
1 Blepharophimosis, Ptosis, and Epicanthus Inversus26 24 FOXL2
2 Blepharophimosis Syndrome Type 126
3 Blepharophimosis Syndrome Type 226
4 Bpes I24
5 Bpes Ii24

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

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

35
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

Animal Models for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 or affiliated genes

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

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

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

69 (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 variantPathogenicChr na, -1: -1
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
946;XY;inv(1)(p22.3p34.1)dnTranslocationPathogenicChr na, -1: -1
10FOXL2NM_023067.3(FOXL2): c.15C> A (p.Tyr5Ter)SNVPathogenicGRCh38Chr 3, 138946708: 138946708
11FOXL2NM_023067.3(FOXL2): c.43delC (p.Leu15Cysfs)deletionPathogenicGRCh37Chr 3, 138665522: 138665522
12FOXL2NM_023067.3(FOXL2): c.171C> G (p.Tyr57Ter)SNVPathogenicGRCh38Chr 3, 138946552: 138946552
13FOXL2NM_023067.3(FOXL2): c.173C> A (p.Ser58Ter)SNVPathogenicGRCh38Chr 3, 138946550: 138946550
14FOXL2NM_023067.3(FOXL2): c.187A> C (p.Ile63Leu)SNVLikely pathogenicGRCh37Chr 3, 138665378: 138665378
15FOXL2NM_023067.3(FOXL2): c.195G> A (p.Met65Ile)SNVLikely pathogenicGRCh37Chr 3, 138665370: 138665370
16FOXL2NM_023067.3(FOXL2): c.205G> T (p.Glu69Ter)SNVPathogenicrs387906920GRCh37Chr 3, 138665360: 138665360
17FOXL2NM_023067.3(FOXL2): c.292T> C (p.Trp98Arg)SNVLikely pathogenicGRCh38Chr 3, 138946431: 138946431
18FOXL2NM_023067.3(FOXL2): c.293G> A (p.Trp98Ter)SNVPathogenicGRCh38Chr 3, 138946430: 138946430
19FOXL2NM_023067.3(FOXL2): c.303C> G (p.Ser101Arg)SNVLikely pathogenicGRCh38Chr 3, 138946420: 138946420
20FOXL2NM_023067.3(FOXL2): c.311A> G (p.His104Arg)SNVLikely pathogenicGRCh38Chr 3, 138946412: 138946412
21FOXL2NM_023067.3(FOXL2): c.316C> T (p.Leu106Phe)SNVLikely pathogenicGRCh37Chr 3, 138665249: 138665249
22FOXL2NM_023067.3(FOXL2): c.319A> G (p.Ser107Gly)SNVLikely pathogenicGRCh37Chr 3, 138665246: 138665246
23FOXL2NM_023067.3(FOXL2): c.338delT (p.Ile113Thrfs)deletionPathogenicGRCh38Chr 3, 138946385: 138946385
24FOXL2NM_023067.3(FOXL2): c.340A> G (p.Lys114Glu)SNVLikely pathogenicGRCh37Chr 3, 138665225: 138665225
25FOXL2NM_023067.3(FOXL2): c.353_476dup124 (p.His159Glnfs)duplicationPathogenicGRCh38Chr 3, 138946247: 138946370
26FOXL2NM_023067.3(FOXL2): c.576dupC (p.Lys193Glnfs)duplicationPathogenicGRCh38Chr 3, 138946147: 138946147
27FOXL2NM_023067.3(FOXL2): c.582C> G (p.Tyr194Ter)SNVPathogenicGRCh38Chr 3, 138946141: 138946141
28FOXL2NM_023067.3(FOXL2): c.612G> A (p.Trp204Ter)SNVPathogenicGRCh38Chr 3, 138946111: 138946111
29FOXL2NM_023067.3(FOXL2): c.618delA (p.Pro207Argfs)deletionPathogenicGRCh38Chr 3, 138946105: 138946105
30FOXL2NM_023067.3(FOXL2): c.630_651dup22 (p.Cys218Leufs)duplicationPathogenicGRCh38Chr 3, 138946072: 138946093
31FOXL2NM_023067.3(FOXL2): c.632C> A (p.Ser211Ter)SNVPathogenicGRCh37Chr 3, 138664933: 138664933
32FOXL2NM_023067.3(FOXL2): c.644A> G (p.Tyr215Cys)SNVPathogenicGRCh38Chr 3, 138946079: 138946079
33FOXL2NM_023067.3(FOXL2): c.662_689del28 (p.Ala221Glyfs)deletionPathogenicGRCh38Chr 3, 138946034: 138946061
34FOXL2NM_023067.3(FOXL2)duplicationPathogenicGRCh38Chr 3, 138946031: 138946060
35FOXL2NM_023067.3(FOXL2): c.674_695del22 (p.Ala225Glufs)deletionPathogenicGRCh37Chr 3, 138664870: 138664891
36FOXL2NM_023067.3(FOXL2)duplicationPathogenicGRCh38Chr 3, 138946020: 138946049
37FOXL2NM_023067.3(FOXL2): c.678_705del28 (p.Ala227Profs)deletionPathogenicGRCh37Chr 3, 138664860: 138664887
38FOXL2NM_023067.3(FOXL2): c.748_749delGG (p.Gly250Profs)deletionPathogenicGRCh38Chr 3, 138945974: 138945975
39FOXL2NM_023067.3(FOXL2): c.777dupA (p.Arg260Thrfs)duplicationPathogenicGRCh37Chr 3, 138664788: 138664788
40FOXL2NM_023067.3(FOXL2): c.804delC (p.Gly269Alafs)deletionPathogenicGRCh37Chr 3, 138664761: 138664761
41FOXL2NM_023067.3(FOXL2): c.827dupG (p.Leu277Profs)duplicationPathogenicGRCh38Chr 3, 138945896: 138945896
42FOXL2NM_023067.3(FOXL2): c.840_871del32 (p.Ala283Serfs)deletionPathogenicGRCh38Chr 3, 138945852: 138945883
43FOXL2NM_023067.3(FOXL2): c.856_857delCCinsA (p.Pro286Ilefs)indelPathogenicGRCh38Chr 3, 138945866: 138945867
44FOXL2NM_023067.3(FOXL2): c.892dupC (p.His298Profs)duplicationPathogenicGRCh37Chr 3, 138664673: 138664673
45FOXL2NM_023067.3(FOXL2): c.907_926dup20 (p.His312Argfs)duplicationPathogenicGRCh37Chr 3, 138664639: 138664658
46FOXL2NM_023067.3(FOXL2): c.951_961dupGCCGCCGGGCC (p.Gln321Argfs)duplicationPathogenicGRCh37Chr 3, 138664604: 138664614
47FOXL2NM_023067.3(FOXL2): c.982delG (p.Ala328Profs)deletionPathogenicGRCh37Chr 3, 138664583: 138664583
48FOXL2NM_023067.3(FOXL2): c.1011delC (p.Thr338Profs)deletionPathogenicGRCh37Chr 3, 138664554: 138664554
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

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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

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

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1female gonad developmentGO:00085859.8FOXL2, NR5A1
2ovarian follicle developmentGO:00015419.7BMP15, FOXL2
3female gamete generationGO:00072929.5BMP15, DIAPH2
4transcription from RNA polymerase II promoterGO:00063669.2FOXL2, NR5A1, ZIC1
5cell differentiationGO:00301548.8FOXL2, NR5A1, ZIC1
6positive regulation of transcription from RNA polymerase II promoterGO:00459448.4FOXL2, HNF1B, NR5A1, ZIC1
7positive regulation of transcription, DNA-templatedGO:00458938.1BMP15, 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:00037059.6HNF1B, NR5A1
2transcription factor activity, sequence-specific DNA bindingGO:00037008.4FOXL2, HNF1B, NR5A1, ZIC1

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet