BPES
MCID: BLP002
MIFTS: 40

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES) malady

Summaries for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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Wikipedia:63 Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertically... more...

MalaCards: Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome, also known as blepharophimosis, ptosis, and epicanthus inversus, is related to blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 and dandy-walker syndrome. An important gene associated with Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome is FOXL2 (forkhead box L2). Related mouse phenotypes are craniofacial and vision/eye.

Description from OMIM:46 110100

GeneReviews summary for bpes

Aliases & Classifications for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 42NIH Rare Diseases, 44Novoseek, 60UMLS, 19GeneReviews, 20GeneTests, 22GTR, 46OMIM
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Aliases & Descriptions:

blepharophimosis, ptosis, and epicanthus inversus syndrome 8 21 10
blepharophimosis, ptosis, and epicanthus inversus 19 20 22 21 60
blepharophimosis 42 10 44 60
blepharophimosis syndrome 19 21 60
bpes 19 21
popliteal pterygium syndrome, lethal type 60


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Disease Ontology8 DOID:14778
OMIM46 110100

Related Diseases for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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Diseases in the Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 family:

blepharophimosis, ptosis, and epicanthus inversus syndrome Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2
Blepharophimosis - Epicanthus Inversus - Ptosis Due to Polya Expansion Blepharophimosis - Epicanthus Inversus - Ptosis Due to 3q23 Microdeletion
Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation

Diseases related to Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 167)
idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis, ptosis, and epicanthus inversus syndrome type 136.1ZIC1, ZIC4, SOX14, FOXP2, OSR2
2dandy-walker syndrome34.6ZIC4, ZIC1
3premature ovarian failure29.9FOXP2, FOXL2
4developmental disabilities29.7FOXP2, FOXL2
5holoprosencephaly13.3ZIC1
6blepharophimosis11.0
7blepharophimosis, ptosis, and epicanthus inversus syndrome type 210.7
8hypogonadism10.6
9popliteal pterygium syndrome lethal type10.6
10microcephaly10.5
11refractive error10.5
12strabismus10.5
13bloom syndrome10.4
14brachydactyly10.4
15premature menopause10.4
16popliteal pterygium syndrome 2, lethal type10.4
17blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion10.2
18blepharophimosis with ptosis, syndactyly, and short stature10.2
19blepharophimosis intellectual disability syndromes10.2
20pseudopapilledema blepharophimosis hand anomalies10.1
21ohdo syndrome, say-barber-biesecker-young-simpson variant10.1
22cataract10.1
23jorgenson lenz syndrome10.1
24blepharophimosis-ptosis-intellectual disability syndrome10.1
25atrioventricular defect - blepharophimosis -radial defects10.1
26blepharophimosis-intellectual deficit syndrome, verloes type10.1
27blepharophimosis-intellectual deficit syndrome, ohdo type10.1
28coloboma10.0
29retinitis pigmentosa10.0
30infertility10.0
31hypothyroidism10.0
32retinitis10.0
33corpus callosum agenesis of blepharophimosis robin type10.0
34nablus mask-like facial syndrome10.0
35ohdo syndrome, maat-kievit-brunner type10.0
36blepharophimosis - epicanthus inversus - ptosis due to polya expansion10.0
37blepharophimosis - epicanthus inversus - ptosis due to a point mutation10.0
38moebius syndrome10.0FOXL2, SOX14
39congenital heart defect10.0
40dwarfism10.0
41dubowitz syndrome9.9
42radioulnar synostosis9.9
43esotropia9.9
44synostosis9.9
45congenital contractural arachnodactyly9.9
46marden walker like syndrome9.9
47schwartz jampel syndrome type 19.9
48marden-walker syndrome9.9
49toriello carey syndrome9.9
50michels syndrome9.9

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



Diseases related to blepharophimosis, ptosis, and epicanthus inversus syndrome

Clinical Features for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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Clinical features from OMIM:

110100

Drugs & Therapeutics for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome:

id Genetic test Affiliating Genes
1 Blepharophimosis, Ptosis, and Epicanthus Inversus20 22 FOXL2

Anatomical Context for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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30LifeMap Discovery™
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LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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

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

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MGI Mouse Phenotypes related to Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1ATR, FOXP2, FOXF2
2MP:00053918.8FOXL2, FOXF2, FOXP2, RBP1
3MP:00107688.6FOXL2, FOXF2, FOXP2, ATR
4MP:00053788.3ATR, RBP1, FOXP2, FOXF2, FOXL2
5MP:00036318.2FOXF2, FOXP2, RBP1, ATR

Publications for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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Articles related to Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome:

(show all 32)
idTitleAuthorsYear
1
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. (23513057)
2013
2
Differential Apoptotic and Proliferative Activities of Wild-type FOXL2 and Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)-associated Mutant FOXL2 Proteins. (24240106)
2013
3
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
4
A rare cause of congenital ptosis: Blepharophimosis, ptosis and epicanthus inversus syndrome. (23560022)
2012
5
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
6
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female. (22906557)
2012
7
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
8
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
9
Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome]. (21055199)
2010
10
Identification of a novel mutation in FOXL2 gene that leads to blepharophimosis ptosis epicanthus inversus and telecanthus syndrome in a Tunisian consanguineous family. (19929410)
2010
11
A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome. (19969293)
2010
12
Histological and ultrastructural study on the medial canthal ligament of blepharophimosis, ptosis and epicanthus inversus syndrome. (19951599)
2009
13
FOXL2 gene mutations and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): a novel mutation detected in a Chinese family and a statistic model for summarizing previous reported records. (19592504)
2009
14
Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism. (18793770)
2008
15
Tamoxifen treatment in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome and peripheral precocious puberty. (17451085)
2007
16
Mutation analysis of FOXL2 gene and its structure protein in patients of blepharophimosis-ptosis-epicanthus inversus syndrome]. (17897532)
2007
17
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case. (16814186)
2006
18
Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature. (16015581)
2005
19
Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction. (16208278)
2005
20
A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome. (16086270)
2005
21
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. (16131596)
2005
22
The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). (14710475)
2003
23
Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. (12630957)
2003
24
Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. (9762009)
1998
25
Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene. (9727204)
1998
26
Concerning the article by Ogata et al. Hypergonadotrophic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. (10206790)
1998
27
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci. (9272742)
1997
28
The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23? (7586651)
1995
29
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly. (7802022)
1994
30
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23. (8291545)
1993
31
The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. (6613996)
1983
32
SURGICAL REPAIR OF THE SYNDROME OF EPICANTHUS INVERSUS, BLEPHAROPHIMOSIS AND PTOSIS. (14109036)
1964

Genetic Variations for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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Expression for genes affiliated with Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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Pathways for genes affiliated with Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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Compounds for genes affiliated with Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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

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Biological processes related to Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell differentiationGO:03015410.1FOXL2
2pattern specification processGO:0073899.9FOXP2, FOXL2
3palate developmentGO:0600219.8FOXF2
4positive regulation of transcription, DNA-dependentGO:0458939.7FOXL2, FOXF2
5negative regulation of transcription from RNA polymerase II promoterGO:0001228.8SOX14, FOXL2, FOXP2
6negative regulation of transcription, DNA-dependentGO:0458928.6FOXP2, FOXF2, FOXL2, SOX14

Molecular functions related to Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA binding, bendingGO:0083019.5FOXP2, FOXL2
2sequence-specific DNA binding transcription factor activityGO:0037009.3FOXP2, FOXF2, FOXL2
3DNA bindingGO:0036778.6FOXL2, FOXF2, FOXP2, ATR
4sequence-specific DNA bindingGO:0435658.5FOXP2, FOXF2, FOXL2, SOX14

Products for genes affiliated with Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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