MCID: BLP032
MIFTS: 47

Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 malady

Genetic diseases, Rare diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

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 49 11
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 32 10 23 12 67
Blepharophimosis, Ptosis, and Epicanthus Inversus 21 22 23 65
Blepharophimosis Syndrome 21 22 23 67
Bpes 21 23 67
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 45 22
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 45 22
Blepharophimosis - Epicanthus Inversus - Ptosis 51 24
Blepharophimosis Syndrome Type 1 45 65
Blepharophimosis Syndrome Type 2 45 65
Bpes Type 2 45 22
Bpes Type 1 45 22
Blepharophimosis, Ptosis, and Epicanthus Inversus Without Premature Ovarian Failure 45
 
Blepharophimosis, Ptosis, Epicanthus Inversus with Ovarian Failure 45
Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 2 49
Bpes Without Premature Ovarian Failure 45
Bpes with Premature Ovarian Failure 45
Autosomal Recessive Bpes Type I 67
Blepharophimosis Types 1 and 2 51
Autosomal Dominant Bpes Type I 67
Bpes Without Ovarian Failure 67
Bpes with Ovarian Failure 67
Bpes Type Ii 67
Bpes Type I 67
Bps 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
blepharophimosis - epicanthus inversus - ptosis:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 110100
Disease Ontology10 DOID:14778
Orphanet51 126
ICD10 via Orphanet28 Q10.3

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

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NIH Rare Diseases:45 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 syndrome, is related to blepharophimosis and ptosis, 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, and related mouse phenotype endocrine/exocrine gland.

Genetics Home Reference:23 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:67 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:49 110100

GeneReviews summary for bpes

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

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

Blepharophimosis - Epicanthus Inversus - Ptosis Due to Polya Expansion Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation

Diseases related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis11.1
2ptosis11.1
3blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion10.8
4blepharophimosis - epicanthus inversus - ptosis due to polya expansion10.7
5blepharophimosis - epicanthus inversus - ptosis due to a point mutation10.7
6hypogonadism10.6
7microcephaly10.5
8refractive error10.5
9strabismus10.5
10brachydactyly10.5
11premature menopause10.5
12ohdo syndrome10.3
13blepharophimosis intellectual disability syndromes10.1
14blepharophimosis-intellectual disability syndrome, ohdo type10.1
15breast cancer10.0
16trichohepatoenteric syndrome 210.0
17hydronephrosis10.0
18female breast carcinoma10.0
19bone cancer10.0
20male reproductive system disease10.0
21prostate disease10.0
22prostatic hypertrophy10.0
23dwarfism10.0
24male genital disorders10.0
25plagiocephaly10.0
26congenital hydronephrosis10.0
27upper limb hypertrophy10.0
28optic nerve hypoplasia10.0
29hypotonia10.0
30ovarian embryonal carcinoma9.9BMP15, FOXL2
31gonococcal seminal vesiculitis9.9BMP15, FOXL2
32female reproductive system disease9.9FOXL2, HNF1B
33female urethral cancer9.8BMP15, DIAPH2, FOXL2
34respiratory failure9.8BMP15, DIAPH2, FOXL2
35fabry disease9.7BMP15, DIAPH2, FOXL2
36blepharophimosis, epicanthus inversus, and ptosis, type 18.9BMP15, DDX20, DIAPH2, FOXL2, HNF1B, RFC2

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:

 51 (show all 11)
  • ptosis
  • blepharophimosis/short palpebral fissures
  • epicanthic folds
  • depressed nasal bridge
  • autosomal dominant inheritance
  • myopia
  • defect/anomaly of lacrimal system
  • sterility/hypofertility
  • strabismus/squint
  • nystagmus
  • synophris/synophrys

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

(show all 30)
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 autosomal dominant inheritance HP:0000006
12 amenorrhea HP:0000141
13 high palate HP:0000218
14 cupped ear HP:0000378
15 wide nasal bridge HP:0000431
16 microcornea HP:0000482
17 strabismus HP:0000486
18 telecanthus HP:0000506
19 ptosis HP:0000508
20 epicanthus inversus HP:0000537
21 hypermetropia HP:0000540
22 microphthalmos HP:0000568
23 blepharophimosis HP:0000581
24 nystagmus HP:0000639
25 abnormality of the breast HP:0000769
26 increased circulating gonadotropin level HP:0000837
27 abnormality of the hair HP:0001595
28 depressed nasal bridge HP:0005280
29 premature ovarian failure HP:0008209
30 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

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 Inversus22 24 FOXL2
2 Bpes I22
3 Bpes Ii22

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:

33
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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MGI Mouse Phenotypes related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.2BMP15, DDX20, FOXL2, HNF1B

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:

67 (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_021198
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.804dupC (p.Gly269Argfs)duplicationPathogenicrs797044528GRCh37Chr 3, 138664761: 138664761
7FOXL2NM_023067.3(FOXL2): c.841_857dup17 (p.Pro287Argfs)duplicationPathogenicrs797044529GRCh38Chr 3, 138945866: 138945882
8FOXL2NM_023067.3(FOXL2): c.843_865dup23 (p.His289Argfs)duplicationPathogenicrs797044530GRCh38Chr 3, 138945858: 138945880
9FOXL2NM_023067.3(FOXL2): c.854delC (p.Pro285Argfs)deletionPathogenicrs797044531GRCh38Chr 3, 138945869: 138945869
10FOXL2NM_023067.3(FOXL2): c.855_871dup17 (p.His291Argfs)duplicationPathogenicrs797044532GRCh38Chr 3, 138945852: 138945868
11FOXL2NM_023067.3(FOXL2): c.855_871del17 (p.Pro287Alafs)deletionPathogenicrs797044533GRCh38Chr 3, 138945852: 138945868
12FOXL2NM_023067.3(FOXL2): c.655C> T (p.Gln219Ter)single nucleotide variantPathogenicrs104893741GRCh37Chr 3, 138664910: 138664910
13FOXL2NM_023067.3(FOXL2): c.586C> T (p.Gln196Ter)single nucleotide variantPathogenicrs104893739GRCh37Chr 3, 138664979: 138664979
14FOXL2NM_023067.3(FOXL2): c.560G> A (p.Gly187Asp)single nucleotide variantPathogenicrs121908359GRCh37Chr 3, 138665005: 138665005

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:

idNameGO IDScoreTop Affiliating Genes
1ovarian follicle developmentGO:00015419.8BMP15, FOXL2
2positive regulation of transcription, DNA-templatedGO:00458939.5FOXL2, HNF1B, ZIC1
3female gamete generationGO:00072929.4BMP15, DIAPH2
4transcription from RNA polymerase II promoterGO:00063669.2FOXL2, HNF1B, ZIC1
5oogenesisGO:00484779.2DDX20, DIAPH2
6negative regulation of transcription from RNA polymerase II promoterGO:00001228.5DDX20, FOXL2, HNF1B

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet