MCID: BLP004
MIFTS: 37

Blepharophimosis malady

Eye diseases category

Summaries for Blepharophimosis

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MalaCards: Blepharophimosis is related to blepharophimosis, ptosis, and epicanthus inversus syndrome and premature ovarian failure. An important gene associated with Blepharophimosis is FOXL2 (forkhead box L2). Affiliated tissues include eye, heart and ovary, and related mouse phenotypes are no phenotypic analysis and digestive/alimentary.

Aliases & Classifications for Blepharophimosis

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9Disease Ontology, 63UMLS, 28ICD9CM, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Aliases & Descriptions:

blepharophimosis 9 63


External Ids:

Disease Ontology9 DOID:10348
ICD9CM28 374.46
MeSH36 D016569

Related Diseases for Blepharophimosis

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Blepharophimosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 167)
idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis, ptosis, and epicanthus inversus syndrome30.7UBE3B, FOXL2, FOXP2, MRPS22
2premature ovarian failure30.0FOXL2, FOXP2
3developmental disabilities29.8FOXL2, FOXP2
4mental retardation10.4
5blepharophimosis, ptosis, and epicanthus inversus syndrome type 110.4
6blepharophimosis, ptosis, and epicanthus inversus syndrome type 210.3
7blepharophimosis intellectual disability syndromes10.3
8blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion10.3
9blepharophimosis with ptosis, syndactyly, and short stature10.2
10pseudopapilledema blepharophimosis hand anomalies10.2
11ohdo syndrome, say-barber-biesecker-young-simpson variant10.2
12blepharophimosis-ptosis-intellectual disability syndrome10.2
13blepharophimosis-intellectual disability syndrome, ohdo type10.2
14microcephaly10.1
15jorgenson lenz syndrome10.1
16atrioventricular defect - blepharophimosis -radial defects10.1
17blepharophimosis-intellectual disability syndrome, verloes type10.1
18infertility10.1
19coloboma10.1
20cataract10.1
21hypogonadism10.1
22hypothyroidism10.1
23corpus callosum agenesis of blepharophimosis robin type10.1
24nablus mask-like facial syndrome10.1
25ohdo syndrome, maat-kievit-brunner type10.1
26short stature10.1
27blepharophimosis - epicanthus inversus - ptosis due to polya expansion10.1
28blepharophimosis - epicanthus inversus - ptosis due to a point mutation10.1
29bloom syndrome10.0
30premature menopause10.0
31radioulnar synostosis10.0
32retinitis pigmentosa10.0
33dubowitz syndrome10.0
34brachydactyly10.0
35esotropia10.0
36retinitis10.0
37synostosis10.0
38congenital contractures10.0
39frontofacionasal dysplasia10.0
40leri pleonosteosis10.0
41marden walker like syndrome10.0
42marden-walker syndrome10.0
43michels syndrome10.0
44myhre syndrome10.0
45schwartz jampel syndrome type 110.0
46toriello carey syndrome10.0
47hypotonia10.0
48flat face - microstomia - ear anomaly10.0
49acro-oto-ocular syndrome10.0
50williams-beuren syndrome9.8

Graphical network of the top 20 diseases related to Blepharophimosis:



Diseases related to blepharophimosis

Symptoms for Blepharophimosis

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Drugs & Therapeutics for Blepharophimosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Blepharophimosis

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Anatomical Context for Blepharophimosis

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34MalaCards
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MalaCards organs/tissues related to Blepharophimosis:

34
Eye, Heart, Ovary

Animal Models for Blepharophimosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Blepharophimosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.6FOXP2, FOXF2, FOXL2
2MP:00053818.4TWIST1, FOXF2, FOXP2
3MP:00053918.3FOXP2, FOXF2, FOXL2, UBE3B
4MP:00053828.3UBE3B, TWIST1, FOXF2, FOXP2
5MP:00053868.1FOXP2, FOXF2, TWIST1, UBE3B
6MP:00053768.1UBE3B, FOXL2, FOXF2, FOXP2
7MP:00036318.1UBE3B, TWIST1, FOXF2, FOXP2
8MP:00053787.8FOXP2, FOXF2, FOXL2, TWIST1, UBE3B
9MP:00107687.8UBE3B, TWIST1, FOXL2, FOXF2, FOXP2

Publications for Blepharophimosis

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53PubMed
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Articles related to Blepharophimosis:

(show top 50)    (show all 208)
idTitleAuthorsYear
1
Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome. (23441113)
2013
2
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. (23513057)
2013
3
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (23044971)
2012
4
Wakayama Symposium: Notch-FoxL2-I+-SMA axis in eyelid levator muscle development and congenital blepharophimosis. (23084143)
2012
5
Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (21321671)
2011
6
A one-stage correction of the blepharophimosis syndrome using a standard combination of surgical techniques. (21455822)
2011
7
Blepharophimosis-ptosis-epicanthus inversus syndrome. (21696507)
2011
8
Notch gain of function in mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenital blepharophimosis. (21730020)
2011
9
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging. (21344633)
2011
10
Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome]. (21055199)
2010
11
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome. (20184535)
2010
12
Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities. (19339880)
2009
13
Histological and ultrastructural study on the medial canthal ligament of blepharophimosis, ptosis and epicanthus inversus syndrome. (19951599)
2009
14
One-stage correction for blepharophimosis syndrome. (17115018)
2008
15
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
16
Surgical strategy for congenital blepharophimosis syndrome. (17825170)
2007
17
Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. (17050282)
2006
18
Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (16454982)
2006
19
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. (15962237)
2005
20
Premature menopause in association with blepharophimosis, ptosis, and epicanthus inversus. (16147759)
2005
21
Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis. (15366814)
2004
22
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. (12567411)
2003
23
Blepharophimosis: a recommendation for early surgery in patients with severe ptosis. (12648048)
2003
24
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. (11175783)
2001
25
Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome. (11776388)
2001
26
Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: report of two sibs with a unique syndrome. (10528253)
1999
27
Bilateral granulosa cell tumor in a patient with blepharophimosis syndrome. (10329058)
1999
28
Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. (9762009)
1998
29
Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene. (9727204)
1998
30
Vertical transmission of the Ohdo blepharophimosis syndrome. (9605288)
1998
31
Blepharophimosis syndrome (BPES) and additional abnormalities in a female with a balanced X:3 translocation. (8818456)
1996
32
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. (7519949)
1994
33
Optic nerve hypoplasia and angle dysgenesis in a patient with blepharophimosis syndrome. (8172282)
1994
34
Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant. (8074148)
1994
35
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
36
Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). (8474111)
1993
37
Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome? (8326500)
1993
38
Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome? (8305965)
1993
39
Correction of telecanthus in the blepharophimosis syndrome. (1639597)
1992
40
Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome. (2746615)
1989
41
Epicanthal folds and blepharophimosis: a new technique. (3256097)
1988
42
Ptosis with blepharophimosis and epicanthus inversus. (3697568)
1986
43
Blepharophimosis and its association with female infertility. (6743620)
1984
44
Blepharophimosis and female infertility. (6148531)
1984
45
Surgical management of blepharophimosis syndrome. (6677584)
1983
46
Schwartz syndrome: myotonia with blepharophimosis and limitation of joints. (5042497)
1972
47
Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus--a syndrome with no name. (5568616)
1971
48
SURGICAL REPAIR OF THE SYNDROME OF EPICANTHUS INVERSUS, BLEPHAROPHIMOSIS AND PTOSIS. (14109036)
1964
49
Further considerations on the surgical correction of blepharophimosis (epicanthus). (13275545)
1956
50
Hereditary bilateral ptosis and blepharophimosis associated with other developmental abnormalities of the outer eye. (14808191)
1950

Variations for Blepharophimosis

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Expression for genes affiliated with Blepharophimosis

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Blepharophimosis

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GO Terms for genes affiliated with Blepharophimosis

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17Gene Ontology
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Cellular components related to Blepharophimosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.2FOXL2, FOXF2
2nucleusGO:0056347.3UBE3B, TWIST1, FOXL2, FOXF2, FOXP2

Biological processes related to Blepharophimosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pattern specification processGO:0073899.4FOXL2, FOXP2
2palate developmentGO:0600218.9TWIST1, FOXF2
3positive regulation of transcription from RNA polymerase II promoterGO:0459448.8FOXL2, FOXF2, TWIST1
4negative regulation of transcription, DNA-templatedGO:0458928.7FOXL2, FOXF2, FOXP2

Molecular functions related to Blepharophimosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA binding, bendingGO:0083019.4FOXP2, FOXL2
2transcription factor bindingGO:0081348.8FOXF2, TWIST1, FOXL2
3sequence-specific DNA binding transcription factor activityGO:0037008.7FOXP2, FOXF2, FOXL2
4sequence-specific DNA bindingGO:0435658.4FOXF2, FOXL2, FOXP2

Products for genes affiliated with Blepharophimosis

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Sources for Blepharophimosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet