MCID: BLP004
MIFTS: 39

Blepharophimosis malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Blepharophimosis

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Aliases & Descriptions for Blepharophimosis:

Name: Blepharophimosis 11 48 50 39 13 68
Blepharophimosis, Ptosis, and Epicanthus Inversus 68
 
Blepharophimosis Syndrome 27

Classifications:



External Ids:

Disease Ontology11 DOID:10348
ICD1030 H02.52
ICD9CM32 374.46
MeSH39 D016569

Summaries for Blepharophimosis

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Wikipedia:71 Blepharophimosis is a congenital condition characterized by a horizontally narrow palpebral fissure. It... more...

MalaCards based summary: Blepharophimosis, also known as blepharophimosis, ptosis, and epicanthus inversus, is related to blepharophimosis, epicanthus inversus, and ptosis, type 1 and blepharophimosis intellectual disability syndromes, and has symptoms including eyelash injury, lacrimal punctum enlarged and eyelid skin dryness. An important gene associated with Blepharophimosis is FOXL2 (Forkhead Box L2). Affiliated tissues include eye, skin and heart, and related mouse phenotype Decreased shRNA abundance (Z-score < -2).

Related Diseases for Blepharophimosis

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Diseases related to Blepharophimosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 87)
idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis, epicanthus inversus, and ptosis, type 112.3
2blepharophimosis intellectual disability syndromes12.0
3blepharophimosis with ptosis, syndactyly, and short stature11.8
4blepharophimosis with facial and genital anomalies and mental retardation11.8
5blepharophimosis-epicanthus inversus-ptosis due to copy number variations11.8
6atrioventricular septal defect with blepharophimosis and anal and radial defects11.7
7pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies11.7
8pseudopapilledema blepharophimosis hand anomalies11.7
9blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome11.7
10ohdo syndrome11.7
11corpus callosum agenesis of blepharophimosis robin type11.7
12blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome11.7
13blepharophimosis-intellectual disability syndrome due to ube3b deficiency11.7
14van den ende-gupta syndrome11.6
15kaufman oculocerebrofacial syndrome11.5
16sbbyss syndrome11.5
17ohdo syndrome, x-linked11.4
18jorgenson lenz syndrome10.9
193mc syndrome 210.9
203mc syndrome 110.9
21nablus mask-like facial syndrome10.9
22marden-walker syndrome10.9
23myhre syndrome10.9
24say-barber-biesecker variant of ohdo syndrome10.8
25ptosis, congenital10.7
26arthrogryposis, distal, type 2a10.7
27popliteal pterygium syndrome 2, lethal type10.7
28frontofacionasal dysplasia10.7
29chromosome 8q22.1 duplication syndrome10.7
30schwartz-jampel syndrome, type 110.7
31simosa craniofacial syndrome10.7
32corpus callosum, agenesis of, with facial anomalies and robin sequence10.7
33krieble bixler syndrome10.7
34marden walker like syndrome10.7
35van den ende-gupta sndrome10.7
36ohdo syndrome, maat-kievit-brunner type10.7
37ptosis10.6
38autosomal dominant chondrodysplasia punctata10.2FOXL2, KAT6B
39shprintzen-goldberg syndrome10.0KAT6B, MED12
40microcephaly10.0
41uterine ligament clear cell adenocarcinoma9.9FOXL2, KAT6B, SCARF2
42teeth, congenital absence of, with taurodontia and sparse hair9.9FOXL2, KAT6B, MED12
43porencephaly9.9BPESC1, FOXL2, UBE3B
44cataract9.9
45hypothyroidism9.9
46retinitis pigmentosa9.8
47brachydactyly9.8
48hypogonadism9.8
49retinitis9.8
50infertility9.8

Graphical network of the top 20 diseases related to Blepharophimosis:



Diseases related to blepharophimosis

Symptoms & Phenotypes for Blepharophimosis

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UMLS symptoms related to Blepharophimosis:


eyelash injury, lacrimal punctum enlarged, eyelid skin dryness, eyelids (symptom), lid, lash and lacrimal structural disorders, observation of narrowing of palpebral fissure, retraction of eyelid, lid retraction or lag

GenomeRNAi Phenotypes related to Blepharophimosis according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-589.2FOXL2, FOXP2, MED12

Drugs & Therapeutics for Blepharophimosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Blepharophimosis


Cochrane evidence based reviews: blepharophimosis

Genetic Tests for Blepharophimosis

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Genetic tests related to Blepharophimosis:

id Genetic test Affiliating Genes
1 Blepharophimosis27

Anatomical Context for Blepharophimosis

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MalaCards organs/tissues related to Blepharophimosis:

36
Eye, Skin, Heart, Ovary

Publications for Blepharophimosis

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Articles related to Blepharophimosis:

(show top 50)    (show all 238)
idTitleAuthorsYear
1
Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. (27914838)
2016
2
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome. (27283035)
2016
3
Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman-Sheldon Syndrome Presenting With Blepharophimosis Causing Near-Complete Visual Obstruction. (27380584)
2016
4
A unique and often overlooked cause of Blepharophimosis: "Whistling face syndrome". (27625150)
2016
5
An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature. (27525095)
2016
6
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. (27488160)
2016
7
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. (27115209)
2016
8
A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome. (27081523)
2015
9
A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome. (25988799)
2015
10
A Modified One-Stage Early Correction of Blepharophimosis Syndrome Using Tutopatch Slings. (26043072)
2015
11
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype. (26506042)
2015
12
Lost drill bit during medial canthoplasty for a blepharophimosis syndrome. (26586989)
2015
13
A Rare Association of Childhood Alopecia Areata and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: Successfully Treated with Diphenylcyclopropenone. (26180454)
2015
14
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1. (26100530)
2015
15
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. (26323275)
2015
16
Rail-roading technique using 18 gauge intravenous catheter and silicon rod for frontalis suspension in blepharophimosis syndrome. (25674190)
2015
17
Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome. (25416281)
2015
18
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. (24715367)
2014
19
Blepharophimosis Syndrome With Absent Tear Production. (24777257)
2014
20
Cosmetic Comparison Between the Modified Uchida Method and the Mustarde Method for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. (25180952)
2014
21
A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I. (24030029)
2014
22
Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. (24725350)
2014
23
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. (24458743)
2014
24
One-stage correction of blepharophimosis-ptosis-epicanthus inversus syndrome using a frontalis muscle transfer technique. (23968369)
2014
25
Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report. (24597293)
2014
26
Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus"). (25032695)
2014
27
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. (24722273)
2014
28
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). (25192944)
2014
29
Single-stage surgery for Blepharophimosis syndrome. (23896456)
2013
30
Cosmetic outcome of Y-V medial canthoplasty in blepharophimosis syndrome. (23458039)
2013
31
Differential Apoptotic and Proliferative Activities of Wild-type FOXL2 and Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)-associated Mutant FOXL2 Proteins. (24240106)
2013
32
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. (24212221)
2013
33
Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome. (23441113)
2013
34
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. (23513057)
2013
35
Can single stage surgery in Blepharophimosis syndrome be practiced universally? (23896455)
2013
36
Double jeopardy: Blepharophimosis syndrome with congenital nasolacrimal duct obstruction in twins. (23875786)
2013
37
Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome. (24265544)
2013
38
A Modified Staged Surgical Intervention for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: 125 Cases With Encouraging Results. (24164792)
2013
39
Wakayama Symposium: Notch-FoxL2-I+-SMA axis in eyelid levator muscle development and congenital blepharophimosis. (23084143)
2012
40
The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients. (22926839)
2012
41
A rare cause of congenital ptosis: Blepharophimosis, ptosis and epicanthus inversus syndrome. (23560022)
2012
42
Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay. (21934608)
2012
43
Single stage surgery for Blepharophimosis syndrome. (22569380)
2012
44
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female. (22906557)
2012
45
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (23044971)
2012
46
Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25). (22171663)
2012
47
A new method of medial epicanthoplasty for patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (22835816)
2012
48
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. (23200864)
2012
49
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging. (21344633)
2011
50
FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES). (21146150)
2011

Variations for Blepharophimosis

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Clinvar genetic disease variations for Blepharophimosis:

5 (show all 47)
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)SNVPathogenicrs797044527GRCh38Chr 3, 138946073: 138946073
5FOXL2NP_075555.1: p.Ala221(15_24)undetermined variantPathogenicChr na, -1: -1
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
946;XY;inv(1)(p22.3p34.1)dnTranslocationPathogenicChr na, -1: -1
10FOXL2NM_023067.3(FOXL2): c.15C> A (p.Tyr5Ter)SNVPathogenicGRCh38Chr 3, 138946708: 138946708
11FOXL2NM_023067.3(FOXL2): c.43delC (p.Leu15Cysfs)deletionPathogenicGRCh37Chr 3, 138665522: 138665522
12FOXL2NM_023067.3(FOXL2): c.171C> G (p.Tyr57Ter)SNVPathogenicGRCh38Chr 3, 138946552: 138946552
13FOXL2NM_023067.3(FOXL2): c.173C> A (p.Ser58Ter)SNVPathogenicGRCh38Chr 3, 138946550: 138946550
14FOXL2NM_023067.3(FOXL2): c.205G> T (p.Glu69Ter)SNVPathogenicrs387906920GRCh37Chr 3, 138665360: 138665360
15FOXL2NM_023067.3(FOXL2): c.293G> A (p.Trp98Ter)SNVPathogenicGRCh38Chr 3, 138946430: 138946430
16FOXL2NM_023067.3(FOXL2): c.338delT (p.Ile113Thrfs)deletionPathogenicGRCh38Chr 3, 138946385: 138946385
17FOXL2NM_023067.3(FOXL2): c.353_476dup124 (p.His159Glnfs)duplicationPathogenicGRCh38Chr 3, 138946247: 138946370
18FOXL2NM_023067.3(FOXL2): c.576dupC (p.Lys193Glnfs)duplicationPathogenicGRCh38Chr 3, 138946147: 138946147
19FOXL2NM_023067.3(FOXL2): c.582C> G (p.Tyr194Ter)SNVPathogenicGRCh38Chr 3, 138946141: 138946141
20FOXL2NM_023067.3(FOXL2): c.612G> A (p.Trp204Ter)SNVPathogenicGRCh38Chr 3, 138946111: 138946111
21FOXL2NM_023067.3(FOXL2): c.618delA (p.Pro207Argfs)deletionPathogenicGRCh38Chr 3, 138946105: 138946105
22FOXL2NM_023067.3(FOXL2): c.630_651dup22 (p.Cys218Leufs)duplicationPathogenicGRCh38Chr 3, 138946072: 138946093
23FOXL2NM_023067.3(FOXL2): c.632C> A (p.Ser211Ter)SNVPathogenicGRCh37Chr 3, 138664933: 138664933
24FOXL2NM_023067.3(FOXL2): c.644A> G (p.Tyr215Cys)SNVPathogenicGRCh38Chr 3, 138946079: 138946079
25FOXL2NM_023067.3(FOXL2): c.662_689del28 (p.Ala221Glyfs)deletionPathogenicGRCh38Chr 3, 138946034: 138946061
26FOXL2NM_023067.3(FOXL2)duplicationPathogenicGRCh38Chr 3, 138946031: 138946060
27FOXL2NM_023067.3(FOXL2): c.674_695del22 (p.Ala225Glufs)deletionPathogenicGRCh37Chr 3, 138664870: 138664891
28FOXL2NM_023067.3(FOXL2)duplicationPathogenicGRCh38Chr 3, 138946020: 138946049
29FOXL2NM_023067.3(FOXL2): c.678_705del28 (p.Ala227Profs)deletionPathogenicGRCh37Chr 3, 138664860: 138664887
30FOXL2NM_023067.3(FOXL2): c.748_749delGG (p.Gly250Profs)deletionPathogenicGRCh38Chr 3, 138945974: 138945975
31FOXL2NM_023067.3(FOXL2): c.777dupA (p.Arg260Thrfs)duplicationPathogenicGRCh37Chr 3, 138664788: 138664788
32FOXL2NM_023067.3(FOXL2): c.804delC (p.Gly269Alafs)deletionPathogenicGRCh37Chr 3, 138664761: 138664761
33FOXL2NM_023067.3(FOXL2): c.827dupG (p.Leu277Profs)duplicationPathogenicGRCh38Chr 3, 138945896: 138945896
34FOXL2NM_023067.3(FOXL2): c.840_871del32 (p.Ala283Serfs)deletionPathogenicGRCh38Chr 3, 138945852: 138945883
35FOXL2NM_023067.3(FOXL2): c.856_857delCCinsA (p.Pro286Ilefs)indelPathogenicGRCh38Chr 3, 138945866: 138945867
36FOXL2NM_023067.3(FOXL2): c.892dupC (p.His298Profs)duplicationPathogenicGRCh37Chr 3, 138664673: 138664673
37FOXL2NM_023067.3(FOXL2): c.907_926dup20 (p.His312Argfs)duplicationPathogenicGRCh37Chr 3, 138664639: 138664658
38FOXL2NM_023067.3(FOXL2): c.951_961dupGCCGCCGGGCC (p.Gln321Argfs)duplicationPathogenicGRCh37Chr 3, 138664604: 138664614
39FOXL2NM_023067.3(FOXL2): c.982delG (p.Ala328Profs)deletionPathogenicGRCh37Chr 3, 138664583: 138664583
40FOXL2NM_023067.3(FOXL2): c.1011delC (p.Thr338Profs)deletionPathogenicGRCh37Chr 3, 138664554: 138664554
41FOXL2NM_023067.3(FOXL2): c.655C> T (p.Gln219Ter)SNVPathogenicrs104893741GRCh37Chr 3, 138664910: 138664910
42FOXL2NM_023067.3(FOXL2)duplicationPathogenicrs387906321GRCh37Chr 3, 138664864: 138664893
43FOXL2NM_023067.3(FOXL2): c.804dupC (p.Gly269Argfs)duplicationPathogenicrs797044528GRCh37Chr 3, 138664761: 138664761
44FOXL2NM_023067.3(FOXL2): c.855_871del17 (p.Pro287Alafs)deletionPathogenicrs797044533GRCh37Chr 3, 138664694: 138664710
45FOXL2NM_023067.3(FOXL2): c.586C> T (p.Gln196Ter)SNVPathogenicrs104893739GRCh37Chr 3, 138664979: 138664979
46FOXL2NM_023067.3(FOXL2): c.855_871dup17 (p.His291Argfs)duplicationPathogenicrs797044532GRCh37Chr 3, 138664694: 138664710
47FOXL2NM_023067.3(FOXL2): c.560G> A (p.Gly187Asp)SNVPathogenicrs121908359GRCh37Chr 3, 138665005: 138665005

Expression for genes affiliated with Blepharophimosis

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Search GEO for disease gene expression data for Blepharophimosis.

Pathways for genes affiliated with Blepharophimosis

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GO Terms for genes affiliated with Blepharophimosis

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Biological processes related to Blepharophimosis according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of epithelial cell proliferationGO:005067910.5FOXP2, TWIST1
2female gonad developmentGO:000858510.1FOXL2, SMAD4
3ovarian follicle developmentGO:000154110.1FOXL2, SMAD4
4positive regulation of follicle-stimulating hormone secretionGO:004688110.1FOXL2, SMAD4
5positive regulation of luteinizing hormone secretionGO:003368610.1FOXL2, SMAD4
6embryonic digit morphogenesisGO:004273310.0SMAD4, TWIST1
7positive regulation of epithelial to mesenchymal transitionGO:001071810.0SMAD4, TWIST1
8endoderm developmentGO:00074929.8MED12, SMAD4
9single fertilizationGO:00073389.7FOXL2, SMAD4
10uterus developmentGO:00600659.4FOXL2, SMAD4
11negative regulation of transcription from RNA polymerase II promoterGO:00001229.4FOXL2, FOXP2, SMAD4, TWIST1
12negative regulation of transcription, DNA-templatedGO:00458929.1FOXL2, FOXP2, KAT6B, SMAD4, TWIST1
13positive regulation of transcription, DNA-templatedGO:00458939.0FOXL2, KAT6B, MED12, SMAD4
14positive regulation of transcription from RNA polymerase II promoterGO:00459448.7FOXL2, KAT6B, MED12, SMAD4, TWIST1

Molecular functions related to Blepharophimosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:000098110.1FOXL2, FOXP2, TWIST1
2transcription factor bindingGO:00081349.1KAT6B, MED12, TWIST1
3protein homodimerization activityGO:00428039.0FOXP2, MASP1, SMAD4, TWIST1

Sources for Blepharophimosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet