MCID: BLP032
MIFTS: 42

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

Characteristics:

Orphanet epidemiological data:

51
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:

61
blepharophimosis, epicanthus inversus, and ptosis, type 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 110100
Disease Ontology10 DOID:14778
SNOMED-CT59 79833006
Orphanet51 126
ICD10 via Orphanet28 Q10.3
UMLS65 C0220663, C2931135, C2931136 C1849718, more

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-epicanthus inversus-ptosis due to copy number variations and blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome, and has symptoms including depressed nasal bridge, blepharophimosis and ptosis. 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 NBK1441

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 Copy Number Variations Blepharophimosis-Epicanthus Inversus-Ptosis Due to 3q23 Rearrangement Syndrome
Blepharophimosis-Epicanthus Inversus-Ptosis Due to a Point Mutation Syndrome

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

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis-epicanthus inversus-ptosis due to copy number variations11.5
2blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome11.5
3ohdo syndrome11.4
4blepharophimosis intellectual disability syndromes11.4
5blepharophimosis-intellectual disability syndrome, ohdo type11.3
6malaria10.7
7asthma10.7
8familial adenomatous polyposis10.7
9cerebritis10.7
10neuropathy10.7
11prostate cancer10.5
12obesity10.5
13critical limb ischemia10.5
14intermittent claudication10.5
15artery disease10.5
16limb ischemia10.5
17dysplastic nevus syndrome10.5
18placenta praevia10.5
19prostatitis10.5
20melanoma10.5
21testicular cancer10.5
22ischemia10.5
23lung disease10.5
24stenotrophomonas maltophilia infection10.2
25rheumatoid arthritis10.1
26systemic lupus erythematosus10.1
27chromosome xq27.3-q28 duplication syndrome10.1BMP15, FOXL2
28breast cancer10.0
29leptospirosis10.0BMP15, FOXL2
30anorectal stricture10.0BMP15, FOXL2
3146 xy gonadal dysgenesis9.9BMP15, FOXL2
32disease of mental health9.8BMP15, FOXL2
33fabry disease9.7BMP15, DIAPH2, FOXL2
34premature ovarian failure 38.3BMP15, 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 29)
id Description Frequency HPO Source Accession
1 depressed nasal bridge hallmark (90%) HP:0005280
2 blepharophimosis hallmark (90%) HP:0000581
3 ptosis hallmark (90%) HP:0000508
4 epicanthus hallmark (90%) HP:0000286
5 lacrimation abnormality typical (50%) HP:0000632
6 myopia typical (50%) HP:0000545
7 decreased fertility typical (50%) HP:0000144
8 synophrys occasional (7.5%) HP:0000664
9 nystagmus occasional (7.5%) HP:0000639
10 strabismus occasional (7.5%) HP:0000486
11 female infertility HP:0008222
12 premature ovarian failure HP:0008209
13 depressed nasal bridge HP:0005280
14 abnormality of the hair HP:0001595
15 increased circulating gonadotropin level HP:0000837
16 abnormality of the breast HP:0000769
17 nystagmus HP:0000639
18 blepharophimosis HP:0000581
19 microphthalmia HP:0000568
20 hypermetropia HP:0000540
21 epicanthus inversus HP:0000537
22 ptosis HP:0000508
23 telecanthus HP:0000506
24 strabismus HP:0000486
25 microcornea HP:0000482
26 wide nasal bridge HP:0000431
27 cupped ear HP:0000378
28 high palate HP:0000218
29 amenorrhea HP:0000141

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 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:00053798.3BMP15, 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.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)duplicationPathogenicrs797044528GRCh37Chr 3, 138664761: 138664761
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

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
1positive regulation of transcription, DNA-templatedGO:00458939.5FOXL2, HNF1B, ZIC1
2positive regulation of transcription from RNA polymerase II promoterGO:00459449.2FOXL2, HNF1B, ZIC1

Molecular functions related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.6FOXL2, 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