MCID: BLP004
MIFTS: 41

Blepharophimosis malady

Summaries for Blepharophimosis

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MalaCards: Blepharophimosis is related to blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 and blepharophimosis, ptosis, and epicanthus inversus syndrome. An important gene associated with Blepharophimosis is FOXL2 (forkhead box L2), and among its related pathways are DNA Damage Induced 14-3-3Sigma Signaling and Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex. The compounds ku 60019 and ku 55933 have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and ovary, and related mouse phenotypes are digestive/alimentary and vision/eye.

Aliases & Classifications for Blepharophimosis

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8Disease Ontology, 60UMLS, 34MeSH, 27ICD9CM
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Aliases & Descriptions:

blepharophimosis 8 60


External Ids:

Disease Ontology8 DOID:10348
MeSH34 D016569
ICD9CM27 374.46

Related Diseases for Blepharophimosis

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17GeneCards, 18GeneDecks
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Diseases related to Blepharophimosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 169)
idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis, ptosis, and epicanthus inversus syndrome type 135.5SOX14, FOXP2, OSR2
2blepharophimosis, ptosis, and epicanthus inversus syndrome30.9FSHR, MRPS22, SOX14, UBE3B, FOXL2, FOXP2
3microcephaly30.1ATM, ATR
4premature ovarian failure29.9FOXL2, FOXP2, GDF9, FSHR
5amenorrhea29.7FSHR
6cleft palate13.3OSR2, TWIST1
7blepharophimosis, ptosis, and epicanthus inversus syndrome type 210.3
8blepharophimosis intellectual disability syndromes10.3
9blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion10.2
10blepharophimosis with ptosis, syndactyly, and short stature10.2
11blepharophimosis-intellectual deficit syndrome, ohdo type10.2
12pseudopapilledema blepharophimosis hand anomalies10.1
13ohdo syndrome, say-barber-biesecker-young-simpson variant10.1
14cataract10.1
15jorgenson lenz syndrome10.1
16blepharophimosis-ptosis-intellectual disability syndrome10.1
17atrioventricular defect - blepharophimosis -radial defects10.1
18blepharophimosis-intellectual deficit syndrome, verloes type10.1
19coloboma10.0
20retinitis pigmentosa10.0
21infertility10.0
22hypogonadism10.0
23hypothyroidism10.0
24retinitis10.0
25corpus callosum agenesis of blepharophimosis robin type10.0
26nablus mask-like facial syndrome10.0
27ohdo syndrome, maat-kievit-brunner type10.0
28blepharophimosis - epicanthus inversus - ptosis due to polya expansion10.0
29blepharophimosis - epicanthus inversus - ptosis due to a point mutation10.0
30apraxia10.0ATM, FOXP2
31moebius syndrome10.0FOXL2, SOX14
32abrikosov's tumor10.0FSHR, FOXL2
33ovarian disease10.0FOXL2, GDF9, FSHR
34ovarian cancer10.0FSHR, ATM, ATR, RBP1
35breast cancer10.0FOXP2, RBP1, ATR, ATM, TWIST1
36bloom syndrome9.9
37dubowitz syndrome9.9
38brachydactyly9.9
39radioulnar synostosis9.9
40premature menopause9.9
41esotropia9.9
42synostosis9.9
43congenital contractural arachnodactyly9.9
44marden walker like syndrome9.9
45schwartz jampel syndrome type 19.9
46marden-walker syndrome9.9
47toriello carey syndrome9.9
48michels syndrome9.9
49myhre syndrome9.9
50frontofacionasal dysplasia9.9

Graphical network of the top 20 diseases related to Blepharophimosis:



Diseases related to blepharophimosis

Clinical Features for Blepharophimosis

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Drugs & Therapeutics for Blepharophimosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Blepharophimosis

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Anatomical Context for Blepharophimosis

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32MalaCards
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MalaCards organs/tissues related to Blepharophimosis:

32
Heart, Eye, Ovary

Animal Models for Blepharophimosis or affiliated genes

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36MGI
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Publications for Blepharophimosis

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50PubMed
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Articles related to Blepharophimosis:

(show top 50)    (show all 211)
idTitleAuthorsYear
1
A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I. (24030029)
2014
2
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
3
Single stage surgery for Blepharophimosis syndrome. (22569380)
2012
4
Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination, and histopathologic examination. (22159675)
2011
5
Successful anesthetic management of a child with blepharophimosis syndrome and atrial septal defect for reconstructive ocular surgery. (22096296)
2011
6
Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome]. (21055199)
2010
7
Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature. (18262484)
2008
8
Surgical strategy for congenital blepharophimosis syndrome. (17825170)
2007
9
Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex? (17322611)
2007
10
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). (17214723)
2007
11
FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (17277738)
2007
12
The mutation study of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome]. (17393695)
2007
13
Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. (17050282)
2006
14
Correction of blepharophimosis with silicone implant suspensor. (16641709)
2006
15
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. (16700052)
2006
16
Mutation analysis of FOXL2 in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome]. (16762234)
2006
17
Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome? (17103436)
2006
18
Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction. (16208278)
2005
19
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures. (15971261)
2005
20
A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome. (16086270)
2005
21
A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome. (16131596)
2005
22
A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly. (14699621)
2004
23
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. (12567411)
2003
24
Blepharophimosis: a recommendation for early surgery in patients with severe ptosis. (12648048)
2003
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
Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis contractural arachnodactyly, and characteristic face. (9557887)
1998
28
Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). (9782438)
1998
29
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. (7635472)
1995
30
Blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality in sisters. (8538074)
1995
31
Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24. (8558553)
1995
32
Ovum donation for blepharophimosis-related infertility. (7593537)
1995
33
Optic nerve hypoplasia and angle dysgenesis in a patient with blepharophimosis syndrome. (8172282)
1994
34
Blepharophimosis syndrome: an atypical case. (7821483)
1994
35
Blepharophimosis, Ptosis, and Epicanthus Inversus (20301614)
1993
36
Two additional cases of the Ohdo blepharophimosis syndrome. (8279489)
1993
37
Correction of telecanthus in the blepharophimosis syndrome. (1639597)
1992
38
Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible assignment of the trait to 3q23. (1746616)
1991
39
Epicanthal folds and blepharophimosis: a new technique. (3256097)
1988
40
Mental retardation with blepharophimosis. (3656379)
1987
41
Blepharophimosis and female infertility. (6148531)
1984
42
Autosomal dominant blepharophimosis with multiple congenital anomalies. (6587013)
1984
43
Additional lacrimal findings in the syndrome of blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus. (6864429)
1983
44
The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. (6613996)
1983
45
Blepharophimosis and cardiopathy. (7411333)
1980
46
Blepharophimosis, ptosis, epicanthus inversus, and primary amenorrhea. A dominant trait. (475637)
1979
47
Congenital blepharophimosis, joint contractures, and muscular hypotonia. (5167313)
1971
48
Blepharophimosis, ptosis, epicanthus inversus and lacrimal stenosis. (5782860)
1969
49
A surgical solution in the treatment of blepharophimosis. (5977758)
1966
50
Hereditary blepharophimosis, ptosis, and epicanthus inversus. (14429566)
1960

Genetic Variations for Blepharophimosis

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Expression for genes affiliated with Blepharophimosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Blepharophimosis

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Pathways for genes affiliated with Blepharophimosis

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51QIAGEN, 53Reactome, 12EMD Millipore, 37NCBI BioSystems Database
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Pathways related to Blepharophimosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1ATM, ATR
2
Hide members
10.1ATM, ATR
310.1ATM, ATR
49.9FSHR, GDF9, ATM

Compounds for genes affiliated with Blepharophimosis

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59Tocris Bioscience
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Compounds related to Blepharophimosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ku 600195910.1ATM, ATR
2ku 55933599.8ATM, ATR

GO Terms for genes affiliated with Blepharophimosis

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16Gene Ontology
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Biological processes related to Blepharophimosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1eyelid development in camera-type eyeGO:06102910.5TWIST1
2replicative senescenceGO:09039910.1ATM, ATR
3female gamete generationGO:00729210.1FSHR, GDF9, ATM
4positive regulation of transcription, DNA-dependentGO:04589310.0KAT6B, FOXL2, FOXF2, AIRE
5positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:04351710.0ATM, ATR
6negative regulation of transcription from RNA polymerase II promoterGO:0001229.9SOX14, FOXL2, FOXP2, TWIST1
7positive regulation of transcription from RNA polymerase II promoterGO:0459449.9TWIST1, AIRE, FOXF2, FOXL2
8negative regulation of transcription, DNA-dependentGO:0458929.9SOX14, KAT6B, FOXL2, FOXF2, FOXP2
9cellular response to gamma radiationGO:0714809.8ATR, ATM

Molecular functions related to Blepharophimosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor bindingGO:0081349.9TWIST1, FOXF2, FOXL2, KAT6B
2sequence-specific DNA bindingGO:0435659.6FOXP2, FOXF2, FOXL2, SOX14

Products for genes affiliated with Blepharophimosis

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Sources for Blepharophimosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet