MCID: BLP032
MIFTS: 43

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 50 12 33
Blepharophimosis, Ptosis, and Epicanthus Inversus 50 22 23 24 37 66
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 33 11 24 13 68
Blepharophimosis Syndrome 22 23 24 68
Bpes 22 23 24 68
Blepharophimosis Syndrome Type 2 46 25 66
Blepharophimosis Syndrome Type 1 46 25 66
Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome 52 25
Blepharophimosis, Ptosis, and Epicanthus Inversus Without Premature Ovarian Failure 46
Blepharophimosis, Ptosis, Epicanthus Inversus with Ovarian Failure 46
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 46
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 46
Blepharophimosis, Ptosis, and Epicanthus Inversus Type Ii 23
Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 2 50
Blepharophimosis, Ptosis, and Epicanthus Inversus Type I 23
Blepharophimosis, Ptosis, and Epicanthus Inversus Type 2 23
Blepharophimosis, Ptosis, and Epicanthus Inversus Type 1 23
 
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome 11
Bpes Without Premature Ovarian Failure 46
Bpes with Premature Ovarian Failure 46
Autosomal Recessive Bpes Type I 68
Blepharophimosis Types 1 and 2 52
Autosomal Dominant Bpes Type I 68
Bpes Without Ovarian Failure 68
Bpes with Ovarian Failure 68
Bpes Type Ii 68
Bpes Type 1 46
Bpes Type 2 46
Bpes Type I 68
Bpes Ii 23
Bpes 1 23
Bpes 2 23
Bpes I 23

Characteristics:

Orphanet epidemiological data:

52
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:

62
blepharophimosis, epicanthus inversus, and ptosis, type 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 110100
Disease Ontology11 DOID:14778
SNOMED-CT60 79833006
Orphanet52 ORPHA126
ICD10 via Orphanet29 Q10.3

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

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NIH Rare Diseases:46 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-epicanthus inversus-ptosis due to copy number variations and blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome, 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:24 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:68 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:50 110100

GeneReviews summary 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

Symptoms:

 52 (show all 10)
  • epicanthus
  • strabismus
  • blepharophimosis
  • abnormality of the lacrimal duct
  • precocious menopause
  • ptosis
  • myopia
  • nystagmus
  • synophrys
  • depressed nasal bridge

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

(show all 29)
id Description Frequency HPO Source Accession
1 epicanthus hallmark (90%) HP:0000286
2 ptosis hallmark (90%) HP:0000508
3 blepharophimosis hallmark (90%) HP:0000581
4 depressed nasal bridge hallmark (90%) HP:0005280
5 decreased fertility typical (50%) HP:0000144
6 myopia typical (50%) HP:0000545
7 lacrimation abnormality typical (50%) HP:0000632
8 strabismus occasional (7.5%) HP:0000486
9 nystagmus occasional (7.5%) HP:0000639
10 synophrys occasional (7.5%) HP:0000664
11 amenorrhea HP:0000141
12 high palate HP:0000218
13 cupped ear HP:0000378
14 wide nasal bridge HP:0000431
15 microcornea HP:0000482
16 strabismus HP:0000486
17 telecanthus HP:0000506
18 ptosis HP:0000508
19 epicanthus inversus HP:0000537
20 hypermetropia HP:0000540
21 microphthalmia HP:0000568
22 blepharophimosis HP:0000581
23 nystagmus HP:0000639
24 abnormality of the breast HP:0000769
25 increased circulating gonadotropin level HP:0000837
26 abnormality of the hair HP:0001595
27 depressed nasal bridge HP:0005280
28 premature ovarian failure HP:0008209
29 female infertility HP:0008222

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 Inversus25 23 FOXL2
2 Blepharophimosis Syndrome Type 125
3 Blepharophimosis Syndrome Type 225
4 Bpes I23
5 Bpes Ii23

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:

34
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:

68 (show all 24)
id Symbol AA change Variation ID SNP ID
1FOXL2p.Ile84SerVAR_016883rs28937884
2FOXL2p.Leu106PheVAR_016885
3FOXL2p.Asn109LysVAR_016886
4FOXL2p.Ser217PheVAR_016887
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 14)
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)single nucleotide variantPathogenicrs797044527GRCh38Chr 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.655C> T (p.Gln219Ter)single nucleotide variantPathogenicrs104893741GRCh37Chr 3, 138664910: 138664910
10FOXL2NM_023067.3(FOXL2): c.804dupC (p.Gly269Argfs)duplicationPathogenicrs797044528GRCh38Chr 3, 138945919: 138945919
11FOXL2NM_023067.3(FOXL2): c.855_871del17 (p.Pro287Alafs)deletionPathogenicrs797044533GRCh37Chr 3, 138664694: 138664710
12FOXL2NM_023067.3(FOXL2): c.586C> T (p.Gln196Ter)single nucleotide variantPathogenicrs104893739GRCh37Chr 3, 138664979: 138664979
13FOXL2NM_023067.3(FOXL2): c.855_871dup17 (p.His291Argfs)duplicationPathogenicrs797044532GRCh37Chr 3, 138664694: 138664710
14FOXL2NM_023067.3(FOXL2): c.560G> A (p.Gly187Asp)single nucleotide variantPathogenicrs121908359GRCh37Chr 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
1ovarian follicle developmentGO:00015419.9BMP15, FOXL2
2female gonad developmentGO:00085859.8FOXL2, NR5A1
3female gamete generationGO:00072929.7BMP15, DIAPH2
4cell differentiationGO:00301549.1FOXL2, NR5A1, ZIC1
5transcription from RNA polymerase II promoterGO:00063668.9FOXL2, NR5A1, ZIC1
6positive regulation of transcription from RNA polymerase II promoterGO:00459448.4FOXL2, HNF1B, NR5A1, ZIC1
7positive regulation of transcription, DNA-templatedGO:00458938.0BMP15, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet