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 47 49 38 13 67
Blepharophimosis, Ptosis, and Epicanthus Inversus 67
 
Blepharophimosis Syndrome 26

Classifications:



External Ids:

Disease Ontology11 DOID:10348
ICD1029 H02.52
ICD9CM31 374.46
MeSH38 D016569

Summaries for Blepharophimosis

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Wikipedia:70 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.

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 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

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 Blepharophimosis26

Anatomical Context for Blepharophimosis

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MalaCards organs/tissues related to Blepharophimosis:

35
Eye, Skin, Heart, Ovary

Animal Models for Blepharophimosis or affiliated genes

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Publications for Blepharophimosis

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Articles related to Blepharophimosis:

(show top 50)    (show all 238)
idTitleAuthorsYear
1
A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome. (27081523)
2015
2
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. (24715367)
2014
3
Single-stage surgery for Blepharophimosis syndrome. (23896456)
2013
4
Cosmetic outcome of Y-V medial canthoplasty in blepharophimosis syndrome. (23458039)
2013
5
Wakayama Symposium: Notch-FoxL2-I+-SMA axis in eyelid levator muscle development and congenital blepharophimosis. (23084143)
2012
6
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging. (21344633)
2011
7
FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES). (21146150)
2011
8
A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis. (19332160)
2009
9
Congenital alacrima in a patient with blepharophimosis syndrome. (19172509)
2009
10
One-stage correction for blepharophimosis syndrome. (17115018)
2008
11
Surgical strategy for congenital blepharophimosis syndrome. (17825170)
2007
12
Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex? (17322611)
2007
13
FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome. (17968144)
2007
14
FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (17277738)
2007
15
The mutation study of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome]. (17393695)
2007
16
Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (16454982)
2006
17
Correction of blepharophimosis with silicone implant suspensor. (16641709)
2006
18
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. (15962237)
2005
19
Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction. (16208278)
2005
20
Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis. (15366814)
2004
21
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. (12567411)
2003
22
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. (12673658)
2003
23
Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome. (11776388)
2001
24
Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2. (11960581)
2001
25
Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). (10777667)
2000
26
Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene. (9727204)
1998
27
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome? (9546834)
1998
28
Endometrial carcinoma in a patient with blepharophimosis syndrome and menstrual abnormality. (9402841)
1997
29
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci. (9272742)
1997
30
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. (8968762)
1996
31
Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. (7633459)
1995
32
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. (7519949)
1994
33
Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant. (8074148)
1994
34
Blepharophimosis syndrome: an atypical case. (7821483)
1994
35
Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]. (8074155)
1994
36
Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome? (8305965)
1993
37
Gore-Tex soft-tissue patch frontalis suspension technique in congenital ptosis and in blepharophimosis-ptosis syndrome. (8234502)
1993
38
Parental age in the blepharophimosis, ptosis, epicanthus inversus, telecanthus complex. (2389797)
1990
39
Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome. (2746615)
1989
40
Dominantly inherited syndromic blepharophimosis. (2596516)
1989
41
The five-flap technique for blepharophimosis. (2923572)
1989
42
Mental retardation with blepharophimosis. (3656379)
1987
43
Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. (3723552)
1986
44
Blepharophimosis and female infertility. (6148531)
1984
45
Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus--a syndrome with no name. (5568616)
1971
46
Congenital blepharophimosis, joint contractures, and muscular hypotonia. (5167313)
1971
47
A surgical solution in the treatment of blepharophimosis. (5977758)
1966
48
SURGICAL REPAIR OF THE SYNDROME OF EPICANTHUS INVERSUS, BLEPHAROPHIMOSIS AND PTOSIS. (14109036)
1964
49
Blepharophimosis. (13959047)
1963
50
Further considerations on the surgical correction of blepharophimosis (epicanthus). (13275545)
1956

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:005067910.1FOXP2, TWIST1
2positive regulation of follicle-stimulating hormone secretionGO:004688110.1FOXL2, SMAD4
3positive regulation of luteinizing hormone secretionGO:003368610.1FOXL2, SMAD4
4female gonad developmentGO:00085859.9FOXL2, SMAD4
5uterus developmentGO:00600659.9FOXL2, SMAD4
6embryonic digit morphogenesisGO:00427339.7SMAD4, TWIST1
7positive regulation of epithelial to mesenchymal transitionGO:00107189.7SMAD4, TWIST1
8ovarian follicle developmentGO:00015419.7FOXL2, SMAD4
9single fertilizationGO:00073389.5FOXL2, SMAD4
10endoderm developmentGO:00074929.5MED12, SMAD4
11positive regulation of transcription, DNA-templatedGO:00458938.8FOXL2, KAT6B, MED12, SMAD4
12negative regulation of transcription from RNA polymerase II promoterGO:00001228.3FOXL2, FOXP2, SMAD4, TWIST1
13negative regulation of transcription, DNA-templatedGO:00458928.3FOXL2, FOXP2, KAT6B, SMAD4, TWIST1
14positive regulation of transcription from RNA polymerase II promoterGO:00459448.0FOXL2, 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:00009819.6FOXL2, FOXP2, TWIST1
2transcription factor bindingGO:00081349.2KAT6B, MED12, TWIST1
3protein homodimerization activityGO:00428038.4FOXP2, MASP1, SMAD4, TWIST1

Sources for Blepharophimosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet