MCID: BLP004
MIFTS: 35

Blepharophimosis malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Blepharophimosis

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Aliases & Descriptions for Blepharophimosis:

Name: Blepharophimosis 10 45 47 12 36 65

Classifications:



External Ids:

Disease Ontology10 DOID:10348
ICD1027 H02.52
ICD9CM29 374.46
MeSH36 D016569
UMLS65 C0005744

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 blepharophimosis-intellectual disability syndrome, sbbys type and blepharophimosis, epicanthus inversus, and ptosis, type 1, and has symptoms including eyelash injury, lacrimal punctum enlarged and eyelid skin dryness. An important gene associated with Blepharophimosis is FOXL2 (Forkhead Box L2). Affiliated tissues include brain, thyroid and liver.

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 92)
idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis-intellectual disability syndrome, sbbys type32.3FOXL2, KAT6B, MED12
2blepharophimosis, epicanthus inversus, and ptosis, type 112.3
3blepharophimosis intellectual disability syndromes12.1
4blepharophimosis with ptosis, syndactyly, and short stature11.9
5blepharophimosis-intellectual disability syndrome, ohdo type11.9
6blepharophimosis-epicanthus inversus-ptosis due to copy number variations11.9
7pseudopapilledema blepharophimosis hand anomalies11.8
8blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome11.8
9blepharophimosis-intellectual disability syndrome, verloes type11.8
10blepharophimosis-intellectual disability syndrome, mkb type11.8
11corpus callosum agenesis of blepharophimosis robin type11.8
12atrioventricular defect-blepharophimosis-radial and anal defect syndrome11.8
13blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome11.8
14blepharophimosis-intellectual disability syndrome due to ube3b deficiency11.8
15ohdo syndrome11.6
16kaufman oculocerebrofacial syndrome11.5
17van den ende-gupta syndrome11.4
18ohdo syndrome, x-linked11.1
19jorgenson lenz syndrome11.0
20say-barber-biesecker variant of ohdo syndrome10.9
21schwartz-jampel syndrome, type 110.8
22krieble bixler syndrome10.8
23marden walker like syndrome10.8
24toriello carey syndrome10.8
25van den ende-gupta sndrome10.8
26ohdo syndrome, maat-kievit-brunner type10.8
27flat face-microstomia-ear anomaly syndrome10.8
28acro-oto-ocular syndrome10.8
29ptosis10.8
303mc syndrome10.4
31x-linked chondrodysplasia punctata10.1FOXL2, KAT6B
32microcephaly10.1
33cataract10.0
34hypothyroidism10.0
353mc syndrome 210.0
363mc syndrome 110.0
37nablus mask-like facial syndrome10.0
38sbbyss syndrome10.0
39marden-walker syndrome10.0
40myhre syndrome10.0
41michels syndrome10.0
42retinitis pigmentosa10.0
43brachydactyly10.0
44coloboma10.0
45hypogonadism10.0
46retinitis10.0
47infertility10.0
48chromosome xq27.3-q28 duplication syndrome9.9FOXL2, FOXP2
49gallbladder disease9.9BPESC1, FOXL2, UBE3B
50shprintzen-goldberg syndrome9.9KAT6B, MED12

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:


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

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
Brain, Thyroid, Liver, Breast, Lung, 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

Publications for Blepharophimosis

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Articles related to Blepharophimosis:

(show top 50)    (show all 234)
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
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
Congenital blepharophimosis and ptosis in a mentally retarded girl: a new case of Ohdo syndrome? (10631927)
1999
30
Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: report of two sibs with a unique syndrome. (10528253)
1999
31
Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. (9762009)
1998
32
Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene. (9727204)
1998
33
Vertical transmission of the Ohdo blepharophimosis syndrome. (9605288)
1998
34
Blepharophimosis syndrome (BPES) and additional abnormalities in a female with a balanced X:3 translocation. (8818456)
1996
35
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. (7519949)
1994
36
Optic nerve hypoplasia and angle dysgenesis in a patient with blepharophimosis syndrome. (8172282)
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
Epicanthal folds and blepharophimosis: a new technique. (3256097)
1988
43
Ptosis with blepharophimosis and epicanthus inversus. (3697568)
1986
44
Blepharophimosis and its association with female infertility. (6743620)
1984
45
Blepharophimosis and female infertility. (6148531)
1984
46
Surgical management of blepharophimosis syndrome. (6677584)
1983
47
Schwartz syndrome: myotonia with blepharophimosis and limitation of joints. (5042497)
1972
48
Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus--a syndrome with no name. (5568616)
1971
49
50

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
1cell differentiationGO:00301549.7FOXL2, FOXP2, TWIST1
2negative regulation of transcription, DNA-templatedGO:00458929.3FOXL2, FOXP2, TWIST1
3negative regulation of transcription from RNA polymerase II promoterGO:00001229.2FOXL2, FOXP2, TWIST1
4positive regulation of transcription from RNA polymerase II promoterGO:00459448.9FOXL2, KAT6B, 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