MCID: BLP004
MIFTS: 33

Blepharophimosis malady

Rare diseases category

Summaries for Blepharophimosis

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Wikipedia:63 Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertically... more...

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

Aliases & Classifications for Blepharophimosis

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Blepharophimosis, Aliases & Descriptions:

Name: Blepharophimosis 9 41 11 43 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


External Ids:

Disease Ontology9 DOID:10348
ICD9CM27 374.46
MeSH33 D016569

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 220)
idRelated DiseaseScoreTop Affiliating Genes
1premature ovarian failure29.9FOXL2, FOXP2
2developmental disabilities29.8FOXL2, FOXP2
3ptosis10.9
4blepharophimosis, epicanthus inversus, and ptosis, type 110.6
5mental retardation10.4
6blepharophimosis-intellectual disability syndrome10.3
7ascher's syndrome10.3
8blepharophimosis with ptosis, syndactyly, and short stature10.3
9blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion10.3
10blepharophimosis-ptosis-intellectual disability syndrome10.3
11van den ende-gupta syndrome10.3
12blepharophimosis-intellectual disability syndrome, ohdo type10.3
13ohdo syndrome10.2
14pseudopapilledema blepharophimosis hand anomalies10.2
15nablus mask-like facial syndrome10.2
16microcephaly10.2
17atrioventricular defect - blepharophimosis -radial defects10.2
18blepharophimosis-intellectual disability syndrome, sbbys type10.2
19schwartz-jampel syndrome, type 110.1
20marden-walker syndrome10.1
21myhre syndrome10.1
22cataract10.1
23corpus callosum agenesis of blepharophimosis robin type10.1
24toriello carey syndrome10.1
25blepharophimosis - epicanthus inversus - ptosis due to polya expansion10.1
26blepharophimosis - epicanthus inversus - ptosis due to a point mutation10.1
27blepharophimosis-intellectual disability syndrome, verloes type10.1
28blepharophimosis-intellectual disability syndrome, mkb type10.1
29restrictive dermopathy, lethal10.1
30waardenburg syndrome, type 310.1
31oculodentodigital dysplasia10.1
32williams-beuren syndrome10.1
33microphthalmia with limb anomalies10.1
34koolen-de vries syndrome10.1
35burn-mckeown syndrome10.1
36arterial tortuosity syndrome10.1
37borjeson-forssman-lehmann syndrome10.1
38feingold syndrome10.1
39retinitis pigmentosa10.1
40infertility10.1
41dubowitz syndrome10.1
42hypogonadism10.1
43hypothyroidism10.1
44retinitis10.1
45acromegaloid facial appearance syndrome10.1
46pfeiffer palm teller syndrome10.1
47flat face - microstomia - ear anomaly10.1
48acro-oto-ocular syndrome10.1
49blepharophimosis-intellectual disability syndrome due to ube3b deficiency10.1
503mc syndrome 210.0

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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Drug clinical trials:

Search ClinicalTrials for Blepharophimosis

Search NIH Clinical Center for Blepharophimosis

Genetic Tests for Blepharophimosis

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Anatomical Context for Blepharophimosis

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MalaCards organs/tissues related to Blepharophimosis:

31
Heart, Eye, Ovary

Animal Models for Blepharophimosis or affiliated genes

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MGI Mouse Phenotypes related to Blepharophimosis:

35
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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Articles related to Blepharophimosis:

(show top 50)    (show all 219)
idTitleAuthorsYear
1
Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. (24725350)
2014
2
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. (24458743)
2014
3
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. (24715367)
2014
4
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. (24212221)
2013
5
Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome. (23441113)
2013
6
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. (23513057)
2013
7
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (23044971)
2012
8
Wakayama Symposium: Notch-FoxL2-I+-SMA axis in eyelid levator muscle development and congenital blepharophimosis. (23084143)
2012
9
Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (21321671)
2011
10
A one-stage correction of the blepharophimosis syndrome using a standard combination of surgical techniques. (21455822)
2011
11
Blepharophimosis-ptosis-epicanthus inversus syndrome. (21696507)
2011
12
Notch gain of function in mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenital blepharophimosis. (21730020)
2011
13
Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome]. (21055199)
2010
14
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome. (20184535)
2010
15
Histological and ultrastructural study on the medial canthal ligament of blepharophimosis, ptosis and epicanthus inversus syndrome. (19951599)
2009
16
One-stage correction for blepharophimosis syndrome. (17115018)
2008
17
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
18
Surgical strategy for congenital blepharophimosis syndrome. (17825170)
2007
19
Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex? (17322611)
2007
20
Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. (17050282)
2006
21
Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (16454982)
2006
22
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. (15962237)
2005
23
Premature menopause in association with blepharophimosis, ptosis, and epicanthus inversus. (16147759)
2005
24
Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis. (15366814)
2004
25
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. (12567411)
2003
26
Blepharophimosis: a recommendation for early surgery in patients with severe ptosis. (12648048)
2003
27
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. (11175783)
2001
28
Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome. (11776388)
2001
29
Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: report of two sibs with a unique syndrome. (10528253)
1999
30
Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. (9762009)
1998
31
Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene. (9727204)
1998
32
Vertical transmission of the Ohdo blepharophimosis syndrome. (9605288)
1998
33
Blepharophimosis syndrome (BPES) and additional abnormalities in a female with a balanced X:3 translocation. (8818456)
1996
34
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. (7519949)
1994
35
Optic nerve hypoplasia and angle dysgenesis in a patient with blepharophimosis syndrome. (8172282)
1994
36
Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant. (8074148)
1994
37
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
38
Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). (8474111)
1993
39
Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome? (8326500)
1993
40
Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome? (8305965)
1993
41
Correction of telecanthus in the blepharophimosis syndrome. (1639597)
1992
42
Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome. (2746615)
1989
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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Compounds for genes affiliated with Blepharophimosis

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GO Terms for genes affiliated with Blepharophimosis

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Cellular components related to Blepharophimosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.2FOXL2, FOXF2
2nucleusGO:00056347.3UBE3B, TWIST1, FOXL2, FOXF2, FOXP2

Biological processes related to Blepharophimosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1pattern specification processGO:00073899.4FOXL2, FOXP2
2palate developmentGO:00600218.9FOXF2, TWIST1
3positive regulation of transcription from RNA polymerase II promoterGO:00459448.8TWIST1, FOXL2, FOXF2
4negative regulation of transcription, DNA-templatedGO:00458928.7FOXL2, FOXF2, FOXP2

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

idNameGO IDScoreTop Affiliating Genes
1DNA binding, bendingGO:00083019.4FOXP2, FOXL2
2transcription factor bindingGO:00081348.8FOXF2, TWIST1, FOXL2
3sequence-specific DNA binding transcription factor activityGO:00037008.7FOXP2, FOXF2, FOXL2
4sequence-specific DNA bindingGO:00435658.4FOXF2, FOXL2, FOXP2

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet