MCID: BLP032
MIFTS: 36

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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Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1, Aliases & Descriptions:

Name: Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 45 10
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 30 9 21 11
Blepharophimosis, Ptosis, and Epicanthus Inversus 45 19 21 60
Blepharophimosis - Epicanthus Inversus - Ptosis 41 20 47 22
Blepharophimosis Syndrome Type 1 41 60
Blepharophimosis Syndrome Type 2 41 60
Blepharophimosis Types 1 and 2 41 47
Blepharophimosis Syndrome 19 21
Bpes Type 1 41 20
 
Bpes Type 2 41 20
Bpes 19 21
Blepharophimosis, Ptosis, and Epicanthus Inversus Without Premature Ovarian Failure 41
Blepharophimosis, Ptosis, Epicanthus Inversus with Ovarian Failure 41
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 41
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 41
Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 2 45
Bpes Without Premature Ovarian Failure 41
Bpes with Premature Ovarian Failure 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
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:

OMIM45 110100
Disease Ontology9 DOID:14778
Orphanet47 126
ICD10 via Orphanet26 Q10.3

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

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NIH Rare Diseases:41 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 eye, skin and breast.

Genetics Home Reference:21 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.

Description from OMIM:45 110100

GeneReviews summary for bpes

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:

 47 (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 31)
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 gonadotropin excess HP:0000837
27 menstrual irregularities HP:0000858
28 abnormality of the hair HP:0001595
29 depressed nasal bridge HP:0005280
30 premature ovarian failure HP:0008209
31 female infertility HP:0008222

Drugs & Therapeutics for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

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Drug clinical trials:

Search ClinicalTrials for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

Search 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 Inversus20 22 FOXL2
2 Bpes I20
3 Bpes Ii20

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:

31
Eye, Skin, 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:

62 (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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FOXL2NM_023067.3(FOXL2): c.586C> T (p.Gln196Ter)single nucleotide variantPathogenicrs104893739GRCh37Chr 3, 138664979: 138664979

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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Compounds 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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Products for genes affiliated with Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet