MCID: BLP004
MIFTS: 41

Blepharophimosis malady

Summaries for Blepharophimosis

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33MalaCards
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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, ovary and t cells, and related mouse phenotypes are digestive/alimentary and vision/eye.

Aliases & Classifications for Blepharophimosis

Sources:
8Disease Ontology, 61UMLS, 35MeSH, 27ICD9CM
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Aliases & Descriptions:

blepharophimosis 8 61


External Ids:

Disease Ontology8 DOID:10348
MeSH35 D016569
ICD9CM27 374.46

Related Diseases for Blepharophimosis

Sources:
17GeneCards, 18GeneDecks
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Diseases in the blepharophimosis with ptosis, syndactyly, and short stature family:

blepharophimosis

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

(show top 50)    (show all 179)
idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis, ptosis, and epicanthus inversus syndrome type 135.6SOX14, OSR2, FOXP2
2blepharophimosis, ptosis, and epicanthus inversus syndrome30.7ATM, FOXP2, FOXL2, UBE3B, SOX14, AIRE
3microcephaly30.1ATM, ATR
4premature ovarian failure29.9GDF9, FOXP2, FOXL2, FSHR
5amenorrhea29.7FSHR
6cleft palate13.3OSR2, TWIST1
7mental retardation10.4
8n syndrome10.3
9blepharophimosis, ptosis, and epicanthus inversus syndrome type 210.3
10blepharophimosis intellectual disability syndromes10.3
11blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion10.2
12blepharophimosis with ptosis, syndactyly, and short stature10.2
13blepharophimosis-intellectual deficit syndrome, ohdo type10.2
14micro syndrome10.2
15young syndrome10.2
16pseudopapilledema blepharophimosis hand anomalies10.2
17ohdo syndrome, say-barber-biesecker-young-simpson variant10.2
18blepharophimosis-ptosis-intellectual disability syndrome10.2
19coloboma10.1
20jorgenson lenz syndrome10.1
21levator syndrome10.1
22ptosis, congenital10.1
23atrioventricular defect - blepharophimosis -radial defects10.1
24blepharophimosis-intellectual deficit syndrome, verloes type10.1
25bloom syndrome10.1
26retinitis pigmentosa10.1
27infertility10.1
283-m syndrome10.1
29congenital contractures10.1
30corpus callosum agenesis of blepharophimosis robin type10.1
31nablus mask-like facial syndrome10.1
32ohdo syndrome, maat-kievit-brunner type10.1
33short stature10.1
34blepharophimosis - epicanthus inversus - ptosis due to polya expansion10.1
35blepharophimosis - epicanthus inversus - ptosis due to a point mutation10.1
36apraxia10.0ATM, FOXP2
37moebius syndrome10.0SOX14, FOXL2
38abrikosov's tumor10.0FOXL2, FSHR
39ovarian disease10.0GDF9, FSHR, FOXL2
40ovarian cancer10.0FSHR, ATM, ATR, RBP1
41breast cancer10.0RBP1, FOXP2, ATR, ATM, TWIST1
42dubowitz syndrome10.0
43brachydactyly10.0
44radioulnar synostosis10.0
45premature menopause10.0
46synostosis10.0
47char syndrome10.0
48marden walker like syndrome10.0
49schwartz jampel syndrome type 110.0
50chromosome 3q deletion10.0

Graphical network of the top 20 diseases related to Blepharophimosis:



Diseases related to blepharophimosis

Clinical Features for Blepharophimosis

Drugs & Therapeutics for Blepharophimosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Blepharophimosis

Drug clinical trials:

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Genetic Tests for Blepharophimosis

Anatomical Context for Blepharophimosis

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33MalaCards
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MalaCards organs/tissues related to Blepharophimosis:

33
Heart, Ovary, T cells

Animal Models for Blepharophimosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Blepharophimosis

Sources:
51PubMed
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Articles related to Blepharophimosis:

(show top 50)    (show all 211)
idTitleAuthorsYear
1
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. (24212221)
2013
2
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. (23513057)
2013
3
Single-stage surgery for Blepharophimosis syndrome. (23896456)
2013
4
Can single stage surgery in Blepharophimosis syndrome be practiced universally? (23896455)
2013
5
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
6
Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (21321671)
2011
7
Notch gain of function in mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenital blepharophimosis. (21730020)
2011
8
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
9
Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). (21068205)
2011
10
Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome]. (21055199)
2010
11
Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: a novel epidermal nevus syndrome. (20034083)
2010
12
Congenital alacrima in a patient with blepharophimosis syndrome. (19172509)
2009
13
Multistage correction of blepharophimosis: our rationale for 18 cases. (19205791)
2009
14
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
15
FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome. (17968144)
2007
16
Mutation analysis of FOXL2 in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome]. (16762234)
2006
17
Premature menopause in association with blepharophimosis, ptosis, and epicanthus inversus. (16147759)
2005
18
Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation. (16283882)
2005
19
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. (12567411)
2003
20
Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. (12630957)
2003
21
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. (11175783)
2001
22
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis- epicanthus inversus (BPES) families demonstrates a genotype -- phenotype correlation. (11468277)
2001
23
Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). (10777667)
2000
24
Fine mapping suggests that the goat Polled Intersex Syndrome and the human Blepharophimosis Ptosis Epicanthus Syndrome map to a 100-kb homologous region. (10720572)
2000
25
Bilateral granulosa cell tumor in a patient with blepharophimosis syndrome. (10329058)
1999
26
Vertical transmission of the Ohdo blepharophimosis syndrome. (9605288)
1998
27
Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis contractural arachnodactyly, and characteristic face. (9557887)
1998
28
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome? (9546834)
1998
29
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci. (9272742)
1997
30
Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. (7633459)
1995
31
Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. (7897621)
1995
32
Familial blepharophimosis: an uncommon marker of ovarian dysgenesis. (7584707)
1995
33
The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23? (7586651)
1995
34
Optic nerve hypoplasia and angle dysgenesis in a patient with blepharophimosis syndrome. (8172282)
1994
35
A case with blepharophimosis resembling Ohdo syndrome. (8055131)
1994
36
Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)). (7815425)
1994
37
Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. (8055130)
1994
38
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23. (8291545)
1993
39
Gore-Tex soft-tissue patch frontalis suspension technique in congenital ptosis and in blepharophimosis-ptosis syndrome. (8234502)
1993
40
Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay. (1694631)
1990
41
Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) (2769724)
1989
42
Mental retardation with blepharophimosis. (3656379)
1987
43
Ptosis with blepharophimosis and epicanthus inversus. (3697568)
1986
44
Additional lacrimal findings in the syndrome of blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus. (6864429)
1983
45
The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. (6613996)
1983
46
Blepharophimosis with associated cup-lop ears. (727653)
1978
47
Blepharophimosis and acquired somato-facial dysmorphism. Associated with congenital cataracts. (5791498)
1969
48
Further considerations on the surgical correction of blepharophimosis (epicanthus). (13275545)
1956
49
Operations for epicanthus and blepharophimosis; an evaluation and a method for shortening the medial canthal ligament. (13275546)
1956
50
Dystopia punctorum lacrimorum, blepharophimosis and partial atrophy of the iris in a deaf-mute patient. (18146433)
1949

Genetic Variations for Blepharophimosis

Expression for genes affiliated with Blepharophimosis

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

Search GEO for disease gene expression data for Blepharophimosis.

Pathways for genes affiliated with Blepharophimosis

Sources:
52QIAGEN, 54Reactome, 12EMD Millipore, 38NCBI 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

Sources:
60Tocris Bioscience
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Compounds related to Blepharophimosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ku 600196010.1ATM, ATR
2ku 55933609.8ATM, ATR

GO Terms for genes affiliated with Blepharophimosis

Sources:
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:09039910.1ATR, ATM
3female gamete generationGO:00729210.1ATM, FSHR, GDF9
4positive regulation of transcription, DNA-dependentGO:04589310.0FOXF2, FOXL2, KAT6B, AIRE
5positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:04351710.0ATR, ATM
6negative regulation of transcription from RNA polymerase II promoterGO:0001229.9TWIST1, SOX14, FOXL2, FOXP2
7positive regulation of transcription from RNA polymerase II promoterGO:0459449.9FOXL2, AIRE, TWIST1, FOXF2
8negative regulation of transcription, DNA-dependentGO:0458929.9KAT6B, FOXL2, FOXF2, FOXP2, SOX14
9cellular response to gamma radiationGO:0714809.8ATM, ATR

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet