MCID: BLP004
MIFTS: 34

Blepharophimosis

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Blepharophimosis

MalaCards integrated aliases for Blepharophimosis:

Name: Blepharophimosis 12 72 49 28 51 41 14 69

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology 12 DOID:10348
ICD10 32 H02.52
ICD9CM 34 374.46
MeSH 41 D016569
UMLS 69 C0005744

Summaries for Blepharophimosis

MalaCards based summary : Blepharophimosis is related to blepharophimosis, ptosis, and epicanthus inversus and ohdo syndrome, and has symptoms including observation of narrowing of palpebral fissure and lid retraction or lag. An important gene associated with Blepharophimosis is ARID1B (AT-Rich Interaction Domain 1B). Affiliated tissues include eye, heart and ovary, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 72 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 115)
# Related Disease Score Top Affiliating Genes
1 blepharophimosis, ptosis, and epicanthus inversus 33.5 ARID1B FOXL2 FOXP2
2 ohdo syndrome 32.8 FOXL2 KAT6B MED12
3 ohdo syndrome, sbbys variant 32.8 FOXL2 KAT6B
4 ptosis 30.8 BPESC1 FOXL2 TWIST1 UBE3B
5 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 29.6 FOXL2 FOXP2
6 epicanthus 29.1 BPESC1 FOXL2 FOXP2 KAT6B RBP1 TWIST1
7 blepharophimosis intellectual disability syndromes 12.3
8 blepharophimosis with ptosis, syndactyly, and short stature 12.1
9 blepharophimosis with facial and genital anomalies and mental retardation 11.9
10 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies 11.9
11 atrioventricular septal defect with blepharophimosis and anal and radial defects 11.9
12 pseudopapilledema blepharophimosis hand anomalies 11.9
13 corpus callosum agenesis of blepharophimosis robin type 11.8
14 van den ende-gupta syndrome 11.7
15 kaufman oculocerebrofacial syndrome 11.7
16 ohdo syndrome, x-linked 11.6
17 marden walker like syndrome 11.5
18 jorgenson lenz syndrome 11.4
19 krieble bixler syndrome 11.1
20 arthrogryposis, distal, type 2a 11.1
21 3mc syndrome 11.1
22 corpus callosum, agenesis of, with facial anomalies and robin sequence 11.0
23 ohdo syndrome, say-barber-biesecker-young-simpson variant 11.0
24 myhre syndrome 10.9
25 schilbach-rott syndrome 10.9
26 3mc syndrome 3 10.9
27 marden-walker syndrome 10.9
28 3mc syndrome 1 10.9
29 3mc syndrome 2 10.9
30 nablus mask-like facial syndrome 10.9
31 simosa craniofacial syndrome 10.8
32 schwartz-jampel syndrome, type 1 10.8
33 ohdo syndrome, maat-kievit-brunner type 10.8
34 chromosome 8q22.1 duplication syndrome 10.8
35 ptosis, hereditary congenital 1 10.8
36 frontofacionasal dysplasia 10.8
37 popliteal pterygium syndrome, lethal type 10.8
38 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 10.8
39 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 10.8
40 intellectual developmental disorder with dysmorphic facies and ptosis 10.8
41 telecanthus 10.1
42 vestibular nystagmus 10.0 MED12 TWIST1
43 corpus callosum, agenesis of 10.0 ARID1B MED12
44 microcephaly 10.0
45 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0 ARID1B MED12
46 cataract 10.0
47 ovarian disease 10.0
48 hypothyroidism 10.0
49 goldberg-shprintzen syndrome 9.9 KAT6B MED12
50 coloboma of macula 9.9

Graphical network of the top 20 diseases related to Blepharophimosis:



Diseases related to Blepharophimosis

Symptoms & Phenotypes for Blepharophimosis

UMLS symptoms related to Blepharophimosis:


observation of narrowing of palpebral fissure, lid retraction or lag

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

25 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.6 FOXP2 MED12
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 FOXL2 FOXP2 MED12
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:

# Genetic test Affiliating Genes
1 Blepharophimosis 28

Anatomical Context for Blepharophimosis

MalaCards organs/tissues related to Blepharophimosis:

38
Eye, Heart, Ovary

Publications for Blepharophimosis

Articles related to Blepharophimosis:

(show top 50) (show all 247)
# Title Authors Year
1
Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency. ( 29378385 )
2018
2
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 29339661 )
2018
3
Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome. ( 28511421 )
2017
4
[Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome]. ( 28604951 )
2017
5
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene. ( 28407407 )
2017
6
Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities. ( 28815864 )
2017
7
Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 28924383 )
2017
8
Re: Duarte etA al.: Lacrimal gland involvement in blepharophimosis-ptosis-epicanthus inversus syndrome (Ophthalmology. 2017;124:399-406). ( 29055375 )
2017
9
A unique and often overlooked cause of Blepharophimosis: "Whistling face syndrome". ( 27625150 )
2016
10
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
11
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. ( 27488160 )
2016
12
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209 )
2016
13
An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature. ( 27525095 )
2016
14
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome. ( 27283035 )
2016
15
Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 27914838 )
2016
16
De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome. ( 28503614 )
2016
17
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 26323275 )
2015
18
A Rare Association of Childhood Alopecia Areata and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: Successfully Treated with Diphenylcyclopropenone. ( 26180454 )
2015
19
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype. ( 26506042 )
2015
20
Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome. ( 25416281 )
2015
21
A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome. ( 25988799 )
2015
22
A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome. ( 27081523 )
2015
23
Lost drill bit during medial canthoplasty for a blepharophimosis syndrome. ( 26586989 )
2015
24
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1. ( 26100530 )
2015
25
A Modified One-Stage Early Correction of Blepharophimosis Syndrome Using Tutopatch Slings. ( 26043072 )
2015
26
Rail-roading technique using 18 gauge intravenous catheter and silicon rod for frontalis suspension in blepharophimosis syndrome. ( 25674190 )
2015
27
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. ( 24458743 )
2014
28
Blepharophimosis Syndrome With Absent Tear Production. ( 24777257 )
2014
29
Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus"). ( 25032695 )
2014
30
One-stage correction of blepharophimosis-ptosis-epicanthus inversus syndrome using a frontalis muscle transfer technique. ( 23968369 )
2014
31
Cosmetic Comparison Between the Modified Uchida Method and the Mustarde Method for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 25180952 )
2014
32
A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I. ( 24030029 )
2014
33
Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. ( 24725350 )
2014
34
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). ( 25192944 )
2014
35
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24722273 )
2014
36
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. ( 24715367 )
2014
37
Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report. ( 24597293 )
2014
38
Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome. ( 23441113 )
2013
39
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. ( 23513057 )
2013
40
Double jeopardy: Blepharophimosis syndrome with congenital nasolacrimal duct obstruction in twins. ( 23875786 )
2013
41
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24212221 )
2013
42
Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome. ( 24265544 )
2013
43
A Modified Staged Surgical Intervention for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: 125 Cases With Encouraging Results. ( 24164792 )
2013
44
Can single stage surgery in Blepharophimosis syndrome be practiced universally? ( 23896455 )
2013
45
Cosmetic outcome of Y-V medial canthoplasty in blepharophimosis syndrome. ( 23458039 )
2013
46
Differential Apoptotic and Proliferative Activities of Wild-type FOXL2 and Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)-associated Mutant FOXL2 Proteins. ( 24240106 )
2013
47
Single-stage surgery for Blepharophimosis syndrome. ( 23896456 )
2013
48
Single stage surgery for Blepharophimosis syndrome. ( 22569380 )
2012
49
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
50
A rare cause of congenital ptosis: Blepharophimosis, ptosis and epicanthus inversus syndrome. ( 23560022 )
2012

Variations for Blepharophimosis

ClinVar genetic disease variations for Blepharophimosis:

6
# 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

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.5 ADNP ARID1B FOXL2 FOXP2 KAT6B MED12
2 negative regulation of transcription, DNA-templated GO:0045892 9.46 FOXL2 FOXP2 KAT6B TWIST1
3 positive regulation of epithelial cell proliferation GO:0050679 9.26 FOXP2 TWIST1
4 transcription, DNA-templated GO:0006351 9.17 ADNP ARID1B FOXL2 FOXP2 KAT6B MED12

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.43 ADNP ARID1B FOXL2 FOXP2 KAT6B TWIST1
2 transcription factor binding GO:0008134 9.33 KAT6B MED12 TWIST1
3 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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