MCID: BLP004
MIFTS: 33

Blepharophimosis malady

Rare diseases, Eye diseases categories

Aliases & Classifications for Blepharophimosis

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Aliases & Descriptions for Blepharophimosis:

Name: Blepharophimosis 10 45 47 12 65 36


Classifications:



External Ids:

Disease Ontology10 DOID:10348
ICD9CM29 374.46
MeSH36 D016569

Summaries for Blepharophimosis

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Wikipedia:68 Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertically... more...

MalaCards based summary: Blepharophimosis is related to ptosis and blepharophimosis, epicanthus inversus, and ptosis, type 1. An important gene associated with Blepharophimosis is FOXL2 (Forkhead Box L2). Affiliated tissues include eye, heart and ovary, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

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 238)
idRelated DiseaseScoreTop Affiliating Genes
1ptosis10.9
2blepharophimosis, epicanthus inversus, and ptosis, type 110.7
3ohdo syndrome10.4
4van den ende-gupta syndrome10.4
5blepharophimosis intellectual disability syndromes10.3
6blepharophimosis with ptosis, syndactyly, and short stature10.3
7blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion10.3
8kaufman oculocerebrofacial syndrome10.3
9blepharophimosis-intellectual disability syndrome, sbbys type10.3
10pseudopapilledema blepharophimosis hand anomalies10.3
11blepharophimosis-intellectual disability syndrome, ohdo type10.3
12nablus mask-like facial syndrome10.2
13marden-walker syndrome10.2
14myhre syndrome10.2
15microcephaly10.2
16jorgenson lenz syndrome10.2
17schwartz-jampel syndrome, type 110.2
18cataract10.2
19corpus callosum agenesis of blepharophimosis robin type10.2
20atrioventricular defect - blepharophimosis -radial defects10.2
21blepharophimosis - epicanthus inversus - ptosis due to polya expansion10.2
22blepharophimosis - epicanthus inversus - ptosis due to a point mutation10.2
23blepharophimosis-intellectual disability syndrome, verloes type10.2
24blepharophimosis-intellectual disability syndrome, mkb type10.2
253mc syndrome 210.1
26waardenburg syndrome, type 310.1
273mc syndrome 110.1
28oculodentodigital dysplasia10.1
29williams-beuren syndrome10.1
30sbbyss syndrome10.1
31microphthalmia with limb anomalies10.1
32koolen-de vries syndrome10.1
33burn-mckeown syndrome10.1
34arterial tortuosity syndrome10.1
35ohdo syndrome, x-linked10.1
36borjeson-forssman-lehmann syndrome10.1
37feingold syndrome10.1
38retinitis pigmentosa10.1
39coloboma10.1
40infertility10.1
41hypogonadism10.1
42hypothyroidism10.1
43retinitis10.1
44acromegaloid facial appearance syndrome10.1
45pfeiffer palm teller syndrome10.1
46blepharophimosis-intellectual disability syndrome due to ube3b deficiency10.1
47restrictive dermopathy, lethal10.0
48peters anomaly10.0
49chromosome 2p16.1-p15 deletion syndrome10.0
50craniofacial-deafness-hand syndrome10.0

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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Blepharophimosis


Cochrane evidence based reviews: Blepharophimosis

Genetic Tests for Blepharophimosis

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Anatomical Context for Blepharophimosis

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MalaCards organs/tissues related to Blepharophimosis:

33
Eye, Heart, Ovary

Animal Models for Blepharophimosis or affiliated genes

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MGI Mouse Phenotypes related to Blepharophimosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2FOXP2, KAT6B, RBP1, UBE3B
2MP:00053828.7FOXP2, KAT6B, MED12, TWIST1, UBE3B
3MP:00053918.6FOXL2, FOXP2, KAT6B, RBP1, UBE3B
4MP:00036318.0FOXP2, KAT6B, MED12, RBP1, TWIST1, UBE3B

Publications for Blepharophimosis

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Articles related to Blepharophimosis:

(show top 50)    (show all 226)
idTitleAuthorsYear
1
A Rare Association of Childhood Alopecia Areata and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: Successfully Treated with Diphenylcyclopropenone. (26180454)
2015
2
Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. (24725350)
2014
3
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. (24458743)
2014
4
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. (24715367)
2014
5
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. (24212221)
2013
6
Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome. (23441113)
2013
7
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. (23513057)
2013
8
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (23044971)
2012
9
Wakayama Symposium: Notch-FoxL2-I+-SMA axis in eyelid levator muscle development and congenital blepharophimosis. (23084143)
2012
10
Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (21321671)
2011
11
A one-stage correction of the blepharophimosis syndrome using a standard combination of surgical techniques. (21455822)
2011
12
Blepharophimosis-ptosis-epicanthus inversus syndrome. (21696507)
2011
13
Notch gain of function in mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenital blepharophimosis. (21730020)
2011
14
Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome]. (21055199)
2010
15
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome. (20184535)
2010
16
Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities. (19339880)
2009
17
One-stage correction for blepharophimosis syndrome. (17115018)
2008
18
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
19
Surgical strategy for congenital blepharophimosis syndrome. (17825170)
2007
20
Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex? (17322611)
2007
21
Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. (17050282)
2006
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
Premature menopause in association with blepharophimosis, ptosis, and epicanthus inversus. (16147759)
2005
25
Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis. (15366814)
2004
26
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. (12567411)
2003
27
Blepharophimosis: a recommendation for early surgery in patients with severe ptosis. (12648048)
2003
28
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. (11175783)
2001
29
Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome. (11776388)
2001
30
Congenital blepharophimosis and ptosis in a mentally retarded girl: a new case of Ohdo syndrome? (10631927)
1999
31
Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: report of two sibs with a unique syndrome. (10528253)
1999
32
Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. (9762009)
1998
33
Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene. (9727204)
1998
34
Vertical transmission of the Ohdo blepharophimosis syndrome. (9605288)
1998
35
Blepharophimosis syndrome (BPES) and additional abnormalities in a female with a balanced X:3 translocation. (8818456)
1996
36
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. (7519949)
1994
37
Optic nerve hypoplasia and angle dysgenesis in a patient with blepharophimosis syndrome. (8172282)
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
Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). (8474111)
1993
40
Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome? (8326500)
1993
41
Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome? (8305965)
1993
42
Correction of telecanthus in the blepharophimosis syndrome. (1639597)
1992
43
Epicanthal folds and blepharophimosis: a new technique. (3256097)
1988
44
Ptosis with blepharophimosis and epicanthus inversus. (3697568)
1986
45
Blepharophimosis and its association with female infertility. (6743620)
1984
46
Blepharophimosis and female infertility. (6148531)
1984
47
Surgical management of blepharophimosis syndrome. (6677584)
1983
48
Schwartz syndrome: myotonia with blepharophimosis and limitation of joints. (5042497)
1972
49
Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus--a syndrome with no name. (5568616)
1971
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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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:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of epithelial cell proliferationGO:005067910.1FOXP2, TWIST1
2neural tube closureGO:00018439.7MED12, TWIST1
3positive regulation of transcription from RNA polymerase II promoterGO:00459448.9FOXL2, KAT6B, MED12, TWIST1
4negative regulation of transcription, DNA-templatedGO:00458928.7FOXL2, FOXP2, KAT6B, TWIST1

Molecular functions related to Blepharophimosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor bindingGO:00081349.2KAT6B, MED12, TWIST1

Sources for Blepharophimosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet