BPES
MCID: BLP002
MIFTS: 34

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

Summaries for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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Wikipedia:64 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:47 110100

GeneReviews summary for bpes

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

Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 43NIH Rare Diseases, 45Novoseek, 61UMLS, 19GeneReviews, 20GeneTests, 22GTR, 47OMIM
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Aliases & Descriptions:

blepharophimosis, ptosis, and epicanthus inversus syndrome 8 21 10
blepharophimosis, ptosis, and epicanthus inversus 19 20 22 21 61
blepharophimosis 43 10 45 61
blepharophimosis syndrome 19 21 61
bpes 19 21
popliteal pterygium syndrome, lethal type 61


External Ids:

Disease Ontology8 DOID:14778
OMIM47 110100

Related Diseases for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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17GeneCards, 18GeneDecks
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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 177)
idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis, ptosis, and epicanthus inversus syndrome type 136.1ZIC1, ZIC4, SOX14, FOXP2, OSR2
2dandy-walker syndrome34.7ZIC4, ZIC1
3premature ovarian failure29.9FOXP2, FOXL2
4developmental disabilities29.7FOXP2, FOXL2
5holoprosencephaly13.3ZIC1
6blepharophimosis11.0
7blepharophimosis, ptosis, and epicanthus inversus syndrome type 210.7
8popliteal pterygium syndrome lethal type10.6
9microcephaly10.5
10strabismus10.5
11micro syndrome10.5
12cant� syndrome10.5
13ptosis, congenital10.5
14hypogonadism, hypergonadotropic10.5
15mental retardation10.4
16popliteal pterygium syndrome 2, lethal type10.4
17n syndrome10.3
18blepharophimosis intellectual disability syndromes10.3
19blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion10.2
20blepharophimosis with ptosis, syndactyly, and short stature10.2
21blepharophimosis-intellectual deficit syndrome, ohdo type10.2
22young syndrome10.2
23pseudopapilledema blepharophimosis hand anomalies10.2
24ohdo syndrome, say-barber-biesecker-young-simpson variant10.2
25blepharophimosis-ptosis-intellectual disability syndrome10.2
26coloboma10.1
27jorgenson lenz syndrome10.1
28levator syndrome10.1
29atrioventricular defect - blepharophimosis -radial defects10.1
30blepharophimosis-intellectual deficit syndrome, verloes type10.1
31bloom syndrome10.1
32retinitis pigmentosa10.1
33infertility10.1
343-m syndrome10.1
35congenital contractures10.1
36corpus callosum agenesis of blepharophimosis robin type10.1
37nablus mask-like facial syndrome10.1
38ohdo syndrome, maat-kievit-brunner type10.1
39short stature10.1
40blepharophimosis - epicanthus inversus - ptosis due to polya expansion10.1
41blepharophimosis - epicanthus inversus - ptosis due to a point mutation10.1
42moebius syndrome10.0FOXL2, SOX14
43plagiocephaly10.0
44dubowitz syndrome10.0
45brachydactyly10.0
46radioulnar synostosis10.0
47premature menopause10.0
48synostosis10.0
49char syndrome10.0
50marden walker like syndrome10.0

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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47OMIM
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Clinical features from OMIM:

110100

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

Drug clinical trials:

Search ClinicalTrials for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

Search NIH Clinical Center for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

Search CenterWatch for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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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31LifeMap 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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome:

37
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

Genetic Variations for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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

Search GEO for disease gene expression data for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome.

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

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

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

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16Gene Ontology
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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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Sources for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet