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
One-stage correction of blepharophimosis-ptosis-epicanthus inversus syndrome using a frontalis muscle transfer technique. (23968369)
2014
2
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. (24212221)
2013
3
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. (23513057)
2013
4
A Modified Staged Surgical Intervention for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: 125 Cases With Encouraging Results. (24164792)
2013
5
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (23044971)
2012
6
Wakayama Symposium: Notch-FoxL2-I+-SMA axis in eyelid levator muscle development and congenital blepharophimosis. (23084143)
2012
7
A new method of medial epicanthoplasty for patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (22835816)
2012
8
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. (23200864)
2012
9
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging. (21344633)
2011
10
De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay. (21471554)
2011
11
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. (21567902)
2011
12
Mutation analysis of FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome]. (22336067)
2011
13
Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients. (21325395)
2011
14
FOXL2 mutations in Tunisian patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (20236120)
2010
15
Blepharophimosis-ptosis-epicanthus inversus syndrome in a Pakistani pedigree. (20392411)
2010
16
Age-related repair of prior blepharophimosis reconstruction in congenital twins. (20885207)
2010
17
Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (19371227)
2009
18
Multistage correction of blepharophimosis: our rationale for 18 cases. (19205791)
2009
19
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. (19659891)
2009
20
What's your diagnosis? Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). (19791720)
2009
21
Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome? (18266249)
2008
22
Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (16454982)
2006
23
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. (15962237)
2005
24
A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus. (15450400)
2004
25
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. (12673658)
2003
26
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. (11910558)
2002
27
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. (11175783)
2001
28
A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome. (10955481)
2000
29
Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: report of two sibs with a unique syndrome. (10528253)
1999
30
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome? (9546834)
1998
31
Blepharophimosis-ptosis-epicanthus inversus syndrome associated with interstitial deletion of chromosome 3q21-23. (9713802)
1998
32
Endometrial carcinoma in a patient with blepharophimosis syndrome and menstrual abnormality. (9402841)
1997
33
Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. (7633459)
1995
34
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. (7519949)
1994
35
One-stage repair of blepharophimosis: a new method. (8208806)
1994
36
A case with blepharophimosis resembling Ohdo syndrome. (8055131)
1994
37
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23. (8275574)
1993
38
Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene? (8256811)
1993
39
Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome. (1442882)
1992
40
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome? (1552551)
1992
41
Parental age in the blepharophimosis, ptosis, epicanthus inversus, telecanthus complex. (2389797)
1990
42
Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome. (2746615)
1989
43
Dominantly inherited syndromic blepharophimosis. (2596516)
1989
44
An association among blepharophimosis, resistant ovary syndrome, and true premature menopause. (3141218)
1988
45
Acquired blepharophimosis in a patient with juvenile blepharospasm. (3154564)
1986
46
Surgical management of blepharophimosis syndrome. (6677584)
1983
47
Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis. (6590784)
1983
48
Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus--a syndrome with no name. (5568616)
1971
49
SURGICAL REPAIR OF THE SYNDROME OF EPICANTHUS INVERSUS, BLEPHAROPHIMOSIS AND PTOSIS. (14109036)
1964
50
Further considerations on the surgical correction of blepharophimosis (epicanthus). (13275545)
1956

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