BPES
MCID: BLP002
MIFTS: 45

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

Genetic diseases, Rare diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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Wikipedia:65 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 premature ovarian failure. An important gene associated with Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome is FOXL2 (forkhead box L2). Related mouse phenotypes are no phenotypic analysis and vision/eye.

Description from OMIM:47 110100

GeneReviews summary for bpes

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

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43NIH Rare Diseases, 10DISEASES, 45Novoseek, 62UMLS, 8Disease Ontology, 21Genetics Home Reference, 19GeneReviews, 20GeneTests, 22GTR, 47OMIM
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Classifications:



Aliases & Descriptions:

blepharophimosis, ptosis, and epicanthus inversus syndrome 8 21 10
blepharophimosis, ptosis, and epicanthus inversus 19 20 22 21 62
blepharophimosis 43 10 45 62
blepharophimosis syndrome 19 21 62
bpes 19 21
popliteal pterygium syndrome, lethal type 62


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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 169)
idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis, ptosis, and epicanthus inversus syndrome type 130.8ZIC1, OSR2, SOX14, FOXP2, ZIC4
2premature ovarian failure30.0FOXP2, FOXL2
3developmental disabilities29.8FOXL2, FOXP2
4blepharophimosis11.0
5blepharophimosis, ptosis, and epicanthus inversus syndrome type 210.7
6hypogonadism10.7
7microcephaly10.5
8refractive error10.5
9strabismus10.5
10mental retardation10.4
11blepharophimosis intellectual disability syndromes10.3
12blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion10.3
13blepharophimosis with ptosis, syndactyly, and short stature10.2
14pseudopapilledema blepharophimosis hand anomalies10.2
15ohdo syndrome, say-barber-biesecker-young-simpson variant10.2
16blepharophimosis-ptosis-intellectual disability syndrome10.2
17blepharophimosis-intellectual disability syndrome, ohdo type10.2
18jorgenson lenz syndrome10.1
19atrioventricular defect - blepharophimosis -radial defects10.1
20blepharophimosis-intellectual disability syndrome, verloes type10.1
21infertility10.1
22coloboma10.1
23cataract10.1
24hypothyroidism10.1
25corpus callosum agenesis of blepharophimosis robin type10.1
26nablus mask-like facial syndrome10.1
27ohdo syndrome, maat-kievit-brunner type10.1
28short stature10.1
29blepharophimosis - epicanthus inversus - ptosis due to polya expansion10.1
30blepharophimosis - epicanthus inversus - ptosis due to a point mutation10.1
31moebius syndrome10.0SOX14, FOXL2
32plagiocephaly10.0
33bloom syndrome10.0
34premature menopause10.0
35radioulnar synostosis10.0
36retinitis pigmentosa10.0
37dubowitz syndrome10.0
38brachydactyly10.0
39esotropia10.0
40retinitis10.0
41synostosis10.0
42congenital contractures10.0
43frontofacionasal dysplasia10.0
44leri pleonosteosis10.0
45marden walker like syndrome10.0
46marden-walker syndrome10.0
47michels syndrome10.0
48myhre syndrome10.0
49schwartz jampel syndrome type 110.0
50toriello carey 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

Symptoms 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

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

Search NIH Clinical Center 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

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37MGI
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MGI Mouse Phenotypes related to Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.9SOX14, FOXP2, FOXL2
2MP:00053918.8FOXL2, FOXP2, OSR2
3MP:00053788.3ZIC4, ZIC1, FOXL2, FOXP2
4MP:00107687.7ZIC4, ZIC1, FOXL2, FOXP2, OSR2

Publications for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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52PubMed
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Articles related to Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome:

(show all 11)
idTitleAuthorsYear
1
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. (23513057)
2013
2
A rare cause of congenital ptosis: Blepharophimosis, ptosis and epicanthus inversus syndrome. (23560022)
2012
3
Histological and ultrastructural study on the medial canthal ligament of blepharophimosis, ptosis and epicanthus inversus syndrome. (19951599)
2009
4
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case. (16814186)
2006
5
A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome. (16086270)
2005
6
The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). (14710475)
2003
7
Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. (9762009)
1998
8
Concerning the article by Ogata et al. Hypergonadotrophic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. (10206790)
1998
9
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly. (7802022)
1994
10
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
11
The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. (6613996)
1983

Variations for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1RIPK4NM_020639.2(RIPK4): c.1127C> A (p.Ser376Ter)single nucleotide variantPathogenicrs387906921GRCh37Chr 21, 43164110: 43164110
2RIPK4NM_020639.2(RIPK4): c.242T> A (p.Ile81Asn)single nucleotide variantPathogenicrs387906922GRCh37Chr 21, 43176917: 43176917
3RIPK4NM_020639.2(RIPK4): c.362T> A (p.Ile121Asn)single nucleotide variantPathogenicrs387906923GRCh37Chr 21, 43176797: 43176797
4FOXL2NM_023067.3(FOXL2): c.586C> T (p.Gln196Ter)single nucleotide variantPathogenicrs104893739GRCh37Chr 3, 138664979: 138664979

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

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2BioGPS, 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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16Gene Ontology
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Cellular components related to Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.1ZIC4, ZIC1, FOXL2, FOXP2, SOX14, OSR2

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

idNameGO IDScoreTop Affiliating Genes
1pattern specification processGO:0073899.2ZIC1, FOXL2, FOXP2
2embryo developmentGO:0097909.2FOXP2, OSR2
3negative regulation of transcription, DNA-templatedGO:0458929.0SOX14, FOXP2, FOXL2
4cell differentiationGO:0301548.8ZIC1, FOXL2, OSR2
5positive regulation of transcription, DNA-templatedGO:0458938.6ZIC1, FOXL2, OSR2
6negative regulation of transcription from RNA polymerase II promoterGO:0001228.3FOXL2, SOX14, OSR2

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

idNameGO IDScoreTop Affiliating Genes
1DNA binding, bendingGO:0083019.6FOXL2, FOXP2
2sequence-specific DNA binding transcription factor activityGO:0037009.1ZIC1, FOXL2, FOXP2
3DNA bindingGO:0036778.5FOXP2, FOXL2, ZIC1, ZIC4
4sequence-specific DNA bindingGO:0435658.2FOXL2, FOXP2, SOX14, OSR2
5metal ion bindingGO:0468727.9ZIC4, ZIC1, FOXP2, OSR2

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

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Sources for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet