MCID: BLP004
MIFTS: 38

Blepharophimosis malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Blepharophimosis

Aliases & Descriptions for Blepharophimosis:

Name: Blepharophimosis 12 50 52 42 14 69
Blepharophimosis, Ptosis, and Epicanthus Inversus 69
Blepharophimosis Syndrome 29

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology 12 DOID:10348
ICD10 33 H02.52
ICD9CM 35 374.46
MeSH 42 D016569
UMLS 69 C0005744

Summaries for Blepharophimosis

MalaCards based summary : Blepharophimosis, also known as blepharophimosis, ptosis, and epicanthus inversus, is related to blepharophimosis, epicanthus inversus, and ptosis, type 1 and blepharophimosis intellectual disability syndromes, and has symptoms including lid retraction or lag and observation of narrowing of palpebral fissure. An important gene associated with Blepharophimosis is FOXL2 (Forkhead Box L2). Affiliated tissues include eye, heart and ovary, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Wikipedia : 71 Blepharophimosis is a congenital condition characterized by a horizontally narrow palpebral fissure. It... more...

Related Diseases for Blepharophimosis

Diseases related to Blepharophimosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
id Related Disease Score Top Affiliating Genes
1 blepharophimosis, epicanthus inversus, and ptosis, type 1 12.3
2 blepharophimosis intellectual disability syndromes 12.2
3 blepharophimosis with ptosis, syndactyly, and short stature 11.8
4 blepharophimosis with facial and genital anomalies and mental retardation 11.8
5 blepharophimosis-epicanthus inversus-ptosis due to copy number variations 11.8
6 pseudopapilledema blepharophimosis hand anomalies 11.7
7 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies 11.7
8 blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome 11.7
9 atrioventricular septal defect with blepharophimosis and anal and radial defects 11.7
10 ohdo syndrome 11.7
11 corpus callosum agenesis of blepharophimosis robin type 11.7
12 blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome 11.7
13 blepharophimosis-intellectual disability syndrome due to ube3b deficiency 11.7
14 van den ende-gupta syndrome 11.6
15 kaufman oculocerebrofacial syndrome 11.5
16 sbbyss syndrome 11.5
17 ohdo syndrome, x-linked 11.4
18 3mc syndrome 11.0
19 jorgenson lenz syndrome 10.9
20 3mc syndrome 2 10.9
21 3mc syndrome 1 10.9
22 nablus mask-like facial syndrome 10.9
23 marden-walker syndrome 10.9
24 myhre syndrome 10.9
25 say-barber-biesecker variant of ohdo syndrome 10.8
26 corpus callosum, agenesis of, with facial anomalies and robin sequence 10.8
27 frontofacionasal dysplasia 10.7
28 ptosis, congenital 10.7
29 chromosome 8q22.1 duplication syndrome 10.7
30 popliteal pterygium syndrome 2, lethal type 10.7
31 simosa craniofacial syndrome 10.7
32 marden walker like syndrome 10.7
33 van den ende-gupta sndrome 10.7
34 ohdo syndrome, maat-kievit-brunner type 10.7
35 schwartz-jampel syndrome, type 1 10.7
36 krieble bixler syndrome 10.7
37 ptosis 10.6
38 hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency 10.1 FOXL2 KAT6B
39 adrenoleukodystrophy 10.1 FOXL2 FOXP2
40 thyroid hormone metabolism, abnormal 10.1 FOXL2 FOXP2
41 pontocerebellar hypoplasia 10.0 BPESC1 FOXL2 UBE3B
42 shprintzen-goldberg syndrome 10.0 KAT6B MED12
43 microcephaly 9.9
44 oculocerebral syndrome with hypopigmentation 9.9 FOXL2 KAT6B MED12
45 cataract 9.9
46 hypothyroidism 9.9
47 epicondylitis 9.9 MED12 TWIST1
48 ampulla of vater clear cell adenocarcinoma 9.8 FOXL2 KAT6B SCARF2 UBE3B
49 retinitis 9.8
50 infertility 9.8

Graphical network of the top 20 diseases related to Blepharophimosis:



Diseases related to Blepharophimosis

Symptoms & Phenotypes for Blepharophimosis

UMLS symptoms related to Blepharophimosis:


lid retraction or lag, observation of narrowing of palpebral fissure

GenomeRNAi Phenotypes related to Blepharophimosis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.6 MED12 FOXP2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.6 FOXL2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.6 FOXP2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.6 MED12
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.6 MED12
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.6 MED12
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.6 FOXP2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.6 MED12
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.6 FOXP2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.6 MED12
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.6 MED12
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.6 MED12
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.6 FOXP2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.6 FOXP2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.6 MED12 FOXL2 FOXP2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.6 MED12

Drugs & Therapeutics for Blepharophimosis

Search Clinical Trials , NIH Clinical Center for Blepharophimosis

Cochrane evidence based reviews: blepharophimosis

Genetic Tests for Blepharophimosis

Genetic tests related to Blepharophimosis:

id Genetic test Affiliating Genes
1 Blepharophimosis 29

Anatomical Context for Blepharophimosis

MalaCards organs/tissues related to Blepharophimosis:

39
Eye, Heart, Ovary

Publications for Blepharophimosis

Articles related to Blepharophimosis:

(show top 50) (show all 238)
id Title Authors Year
1
An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature. ( 27525095 )
2016
2
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome. ( 27283035 )
2016
3
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209 )
2016
4
Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman-Sheldon Syndrome Presenting With Blepharophimosis Causing Near-Complete Visual Obstruction. ( 27380584 )
2016
5
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. ( 27488160 )
2016
6
Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 27914838 )
2016
7
A unique and often overlooked cause of Blepharophimosis: "Whistling face syndrome". ( 27625150 )
2016
8
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 26323275 )
2015
9
A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome. ( 27081523 )
2015
10
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1. ( 26100530 )
2015
11
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype. ( 26506042 )
2015
12
A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome. ( 25988799 )
2015
13
Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome. ( 25416281 )
2015
14
Lost drill bit during medial canthoplasty for a blepharophimosis syndrome. ( 26586989 )
2015
15
Rail-roading technique using 18 gauge intravenous catheter and silicon rod for frontalis suspension in blepharophimosis syndrome. ( 25674190 )
2015
16
A Rare Association of Childhood Alopecia Areata and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: Successfully Treated with Diphenylcyclopropenone. ( 26180454 )
2015
17
A Modified One-Stage Early Correction of Blepharophimosis Syndrome Using Tutopatch Slings. ( 26043072 )
2015
18
Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. ( 24725350 )
2014
19
Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus"). ( 25032695 )
2014
20
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. ( 24458743 )
2014
21
Cosmetic Comparison Between the Modified Uchida Method and the Mustarde Method for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 25180952 )
2014
22
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24722273 )
2014
23
Blepharophimosis Syndrome With Absent Tear Production. ( 24777257 )
2014
24
Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report. ( 24597293 )
2014
25
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. ( 24715367 )
2014
26
One-stage correction of blepharophimosis-ptosis-epicanthus inversus syndrome using a frontalis muscle transfer technique. ( 23968369 )
2014
27
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). ( 25192944 )
2014
28
A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I. ( 24030029 )
2014
29
Cosmetic outcome of Y-V medial canthoplasty in blepharophimosis syndrome. ( 23458039 )
2013
30
Single-stage surgery for Blepharophimosis syndrome. ( 23896456 )
2013
31
Double jeopardy: Blepharophimosis syndrome with congenital nasolacrimal duct obstruction in twins. ( 23875786 )
2013
32
Differential Apoptotic and Proliferative Activities of Wild-type FOXL2 and Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)-associated Mutant FOXL2 Proteins. ( 24240106 )
2013
33
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. ( 23513057 )
2013
34
Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome. ( 23441113 )
2013
35
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24212221 )
2013
36
A Modified Staged Surgical Intervention for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: 125 Cases With Encouraging Results. ( 24164792 )
2013
37
Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome. ( 24265544 )
2013
38
Can single stage surgery in Blepharophimosis syndrome be practiced universally? ( 23896455 )
2013
39
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 23044971 )
2012
40
Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25). ( 22171663 )
2012
41
Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay. ( 21934608 )
2012
42
Single stage surgery for Blepharophimosis syndrome. ( 22569380 )
2012
43
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female. ( 22906557 )
2012
44
The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients. ( 22926839 )
2012
45
Wakayama Symposium: Notch-FoxL2-I+-SMA axis in eyelid levator muscle development and congenital blepharophimosis. ( 23084143 )
2012
46
A rare cause of congenital ptosis: Blepharophimosis, ptosis and epicanthus inversus syndrome. ( 23560022 )
2012
47
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. ( 23200864 )
2012
48
A new method of medial epicanthoplasty for patients with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 22835816 )
2012
49
The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). ( 21957947 )
2011
50
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging. ( 21344633 )
2011

Variations for Blepharophimosis

ClinVar genetic disease variations for Blepharophimosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ARID1B NM_020732.3(ARID1B): c.2306_2308delCCGinsTCCGCAGCCACTCC (p.Pro769Leufs) indel Pathogenic rs879253856 GRCh37 Chromosome 6, 157431630: 157431632
2 ARID1B NM_020732.3(ARID1B): c.3208_3209delAA (p.Lys1070Alafs) deletion Pathogenic rs879253745 GRCh37 Chromosome 6, 157502175: 157502176
3 ARID1B NM_020732.3(ARID1B): c.4273dupT (p.Tyr1425Leufs) duplication Pathogenic rs879253746 GRCh37 Chromosome 6, 157522001: 157522001
4 ARID1B NC_000006.11: g.(?_157099064)_(158366109_?)del deletion Pathogenic GRCh37 Chromosome 6, 157099064: 158366109
5 ARID1B NM_020732.3(ARID1B): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs879253747 GRCh37 Chromosome 6, 157488235: 157488235

Expression for Blepharophimosis

Search GEO for disease gene expression data for Blepharophimosis.

Pathways for Blepharophimosis

GO Terms for Blepharophimosis

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.17 FOXL2 KAT6B MASP1 MED12 RBP1 SMAD4

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.8 FOXL2 FOXP2 SMAD4 TWIST1
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.77 FOXL2 KAT6B MED12 SMAD4 TWIST1
3 positive regulation of transcription, DNA-templated GO:0045893 9.73 FOXL2 KAT6B MED12 SMAD4
4 positive regulation of epithelial cell proliferation GO:0050679 9.54 FOXP2 TWIST1
5 embryonic digit morphogenesis GO:0042733 9.51 SMAD4 TWIST1
6 ovarian follicle development GO:0001541 9.48 FOXL2 SMAD4
7 positive regulation of epithelial to mesenchymal transition GO:0010718 9.46 SMAD4 TWIST1
8 endoderm development GO:0007492 9.4 MED12 SMAD4
9 negative regulation of transcription, DNA-templated GO:0045892 9.35 FOXL2 FOXP2 KAT6B SMAD4 TWIST1
10 female gonad development GO:0008585 9.32 FOXL2 SMAD4
11 uterus development GO:0060065 9.26 FOXL2 SMAD4
12 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.16 FOXL2 SMAD4
13 positive regulation of luteinizing hormone secretion GO:0033686 8.62 FOXL2 SMAD4
14 transcription, DNA-templated GO:0006351 10 FOXL2 FOXP2 KAT6B MED12 SMAD4 TWIST1

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.43 FOXL2 FOXP2 SMAD4
2 transcription factor binding GO:0008134 9.33 KAT6B MED12 TWIST1
3 protein homodimerization activity GO:0042803 9.26 FOXP2 MASP1 SMAD4 TWIST1
4 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 8.8 FOXL2 FOXP2 TWIST1

Sources for Blepharophimosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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