MCID: BLP004
MIFTS: 38

Blepharophimosis malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Blepharophimosis

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Aliases & Descriptions for Blepharophimosis:

Name: Blepharophimosis 11 46 13 48 37 66
 
Blepharophimosis Syndrome 25

Classifications:



External Ids:

Disease Ontology11 DOID:10348
ICD1028 H02.52
ICD9CM30 374.46
MeSH37 D016569

Summaries for Blepharophimosis

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Wikipedia:69 Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertically... more...

MalaCards based summary: Blepharophimosis, also known as blepharophimosis syndrome, is related to blepharophimosis, epicanthus inversus, and ptosis, type 1 and blepharophimosis intellectual disability syndromes, and has symptoms including lid retraction or lag, retraction of eyelid and observation of narrowing of palpebral fissure. 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 89)
idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis, epicanthus inversus, and ptosis, type 112.3
2blepharophimosis intellectual disability syndromes12.2
3blepharophimosis with ptosis, syndactyly, and short stature11.9
4blepharophimosis with facial and genital anomalies and mental retardation11.9
5blepharophimosis-epicanthus inversus-ptosis due to copy number variations11.9
6atrioventricular septal defect with blepharophimosis and anal and radial defects11.8
7pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies11.8
8blepharophimosis-intellectual disability syndrome, sbbys type11.8
9pseudopapilledema blepharophimosis hand anomalies11.8
10blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome11.8
11corpus callosum agenesis of blepharophimosis robin type11.8
12blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome11.8
13ohdo syndrome11.7
14kaufman oculocerebrofacial syndrome11.4
15van den ende-gupta syndrome11.4
16ohdo syndrome, x-linked11.4
17sbbyss syndrome11.2
18jorgenson lenz syndrome11.0
19say-barber-biesecker variant of ohdo syndrome10.9
20schwartz-jampel syndrome, type 110.8
21moved to10.8
22simosa craniofacial syndrome10.8
23corpus callosum, agenesis of, with facial anomalies and robin sequence10.8
24krieble bixler syndrome10.8
25marden walker like syndrome10.8
26van den ende-gupta sndrome10.8
27ohdo syndrome, maat-kievit-brunner type10.8
28ptosis10.8
29autosomal dominant chondrodysplasia punctata10.2FOXL2, KAT6B
30microcephaly10.1
31cataract10.0
32hypothyroidism10.0
333mc syndrome 210.0
343mc syndrome 110.0
35nablus mask-like facial syndrome10.0
36marden-walker syndrome10.0
37myhre syndrome10.0
38michels syndrome10.0
39retinitis pigmentosa10.0
40brachydactyly10.0
41hypogonadism10.0
42retinitis10.0
43infertility10.0
44premature ovarian failure9.9
45radioulnar synostosis9.9
46premature menopause9.9
47hydronephrosis9.9
48synostosis9.9
49esotropia9.9
50congenital contractures9.9

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:


lid retraction or lag, retraction of eyelid, observation of narrowing of palpebral fissure, lid, lash and lacrimal structural disorders, eyelids (symptom), eyelid skin dryness, lacrimal punctum enlarged, eyelash injury

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 Blepharophimosis25

Anatomical Context for Blepharophimosis

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MalaCards organs/tissues related to Blepharophimosis:

34
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 237)
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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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 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of follicle-stimulating hormone secretionGO:004688110.1FOXL2, SMAD4
2positive regulation of luteinizing hormone secretionGO:003368610.1FOXL2, SMAD4
3uterus developmentGO:00600659.9FOXL2, SMAD4
4female gonad developmentGO:00085859.9FOXL2, SMAD4
5neural tube closureGO:00018439.9MED12, TWIST1
6positive regulation of epithelial cell proliferationGO:00506799.8FOXP1, TWIST1
7embryonic digit morphogenesisGO:00427339.8SMAD4, TWIST1
8positive regulation of epithelial to mesenchymal transitionGO:00107189.7SMAD4, TWIST1
9ovarian follicle developmentGO:00015419.7FOXL2, SMAD4
10endothelial cell activationGO:00421189.6FOXP1, SMAD4
11single fertilizationGO:00073389.5FOXL2, SMAD4
12palate developmentGO:00600219.5SMAD4, TWIST1
13endoderm developmentGO:00074929.4MED12, SMAD4
14in utero embryonic developmentGO:00017019.2FOXP1, SMAD4, TWIST1
15positive regulation of transcription, DNA-templatedGO:00458938.1FOXL2, FOXP1, KAT6B, MED12, SMAD4
16negative regulation of transcription, DNA-templatedGO:00458928.0FOXL2, FOXP1, KAT6B, SMAD4, TWIST1
17positive regulation of transcription from RNA polymerase II promoterGO:00459447.5FOXL2, FOXP1, 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, FOXP1, TWIST1
2transcription factor bindingGO:00081349.2KAT6B, MED12, TWIST1
3RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.0FOXL2, FOXP1, SMAD4
4transcription factor activity, sequence-specific DNA bindingGO:00037008.4FOXL2, FOXP1, SMAD4, TWIST1

Sources for Blepharophimosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet