MCID: BLP004
MIFTS: 34

Blepharophimosis

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Blepharophimosis

MalaCards integrated aliases for Blepharophimosis:

Name: Blepharophimosis 12 76 53 29 55 6 44 15 73

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 44 D016569
UMLS 73 C0005744

Summaries for Blepharophimosis

MalaCards based summary : Blepharophimosis is related to blepharophimosis, ptosis, and epicanthus inversus and ohdo syndrome, and has symptoms including lid retraction or lag and observation of narrowing of palpebral fissure. 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 : 76 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 34.0 FOXP2 FOXL2 BPESC1
2 ohdo syndrome 33.0 MED12 KAT6B FOXL2
3 ohdo syndrome, sbbys variant 32.8 KAT6B FOXL2
4 ptosis 31.0 UBE3B TWIST1 KAT6B FOXL2 BPESC1
5 epicanthus 30.5 UBE3B TWIST1 RBP1 FOXP2 FOXL2
6 blepharophimosis intellectual disability syndromes 12.5
7 blepharophimosis with ptosis, syndactyly, and short stature 12.3
8 blepharophimosis with facial and genital anomalies and mental retardation 12.1
9 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies 12.0
10 atrioventricular septal defect with blepharophimosis and anal and radial defects 12.0
11 pseudopapilledema blepharophimosis hand anomalies 12.0
12 corpus callosum agenesis of blepharophimosis robin type 12.0
13 van den ende-gupta syndrome 11.9
14 kaufman oculocerebrofacial syndrome 11.9
15 ohdo syndrome, x-linked 11.7
16 marden walker like syndrome 11.6
17 jorgenson lenz syndrome 11.4
18 krieble bixler syndrome 11.3
19 arthrogryposis, distal, type 2a 11.3
20 3mc syndrome 11.3
21 marden-walker syndrome 11.2
22 3mc syndrome 1 11.2
23 corpus callosum, agenesis of, with facial anomalies and robin sequence 11.1
24 ohdo syndrome, say-barber-biesecker-young-simpson variant 11.1
25 myhre syndrome 11.1
26 schilbach-rott syndrome 11.1
27 frontofacionasal dysplasia 11.1
28 3mc syndrome 3 11.1
29 3mc syndrome 2 11.1
30 nablus mask-like facial syndrome 11.1
31 simosa craniofacial syndrome 11.0
32 schwartz-jampel syndrome, type 1 11.0
33 ohdo syndrome, maat-kievit-brunner type 11.0
34 chromosome 8q22.1 duplication syndrome 10.9
35 ptosis, hereditary congenital 1 10.9
36 bartsocas-papas syndrome 10.9
37 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 10.9
38 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 10.9
39 orofaciodigital syndrome xi 10.9
40 intellectual developmental disorder with dysmorphic facies and ptosis 10.9
41 telecanthus 10.3
42 microcephaly 10.2
43 ovarian disease 10.1
44 hypothyroidism 10.1
45 craniosynostosis 1 10.1 TWIST1 KAT6B
46 retinitis pigmentosa 10.0
47 leber congenital amaurosis 4 10.0
48 cataract 10.0
49 brachydactyly 10.0
50 congenital ptosis 10.0

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 (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 29

Anatomical Context for Blepharophimosis

MalaCards organs/tissues related to Blepharophimosis:

41
Eye, Heart, Ovary

Publications for Blepharophimosis

Articles related to Blepharophimosis:

(show top 50) (show all 260)
# Title Authors Year
1
Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element. ( 29481440 )
2018
2
Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency. ( 29378385 )
2018
3
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 29339661 )
2018
4
Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome. ( 30029625 )
2018
5
Goldenhar syndrome with blepharophimosis and limb deformities: a case report. ( 30134872 )
2018
6
Seven Novel and Three Known Mutations in FOXL2 in 10 Chinese Families with Blepharophimosis Syndrome. ( 30198434 )
2018
7
Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 30234390 )
2018
8
Genomic Disruption of FOXL2 in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2: A Novel Deletion-Insertion Compound Mutation. ( 30246734 )
2018
9
[Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome]. ( 28604951 )
2017
10
Re: Duarte etA al.: Lacrimal gland involvement in blepharophimosis-ptosis-epicanthus inversus syndrome (Ophthalmology. 2017;124:399-406). ( 29055375 )
2017
11
Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities. ( 28815864 )
2017
12
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene. ( 28407407 )
2017
13
Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 28924383 )
2017
14
Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome. ( 28511421 )
2017
15
Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 27914838 )
2017
16
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome. ( 27283035 )
2016
17
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209 )
2016
18
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. ( 27488160 )
2016
19
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
20
De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome. ( 28503614 )
2016
21
An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature. ( 27525095 )
2016
22
A unique and often overlooked cause of Blepharophimosis: &amp;quot;Whistling face syndrome&amp;quot;. ( 27625150 )
2016
23
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1. ( 26100530 )
2015
24
A Rare Association of Childhood Alopecia Areata and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: Successfully Treated with Diphenylcyclopropenone. ( 26180454 )
2015
25
Lost drill bit during medial canthoplasty for a blepharophimosis syndrome. ( 26586989 )
2015
26
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 26323275 )
2015
27
Rail-roading technique using 18 gauge intravenous catheter and silicon rod for frontalis suspension in blepharophimosis syndrome. ( 25674190 )
2015
28
A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome. ( 25988799 )
2015
29
A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome. ( 27081523 )
2015
30
Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome. ( 25416281 )
2015
31
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype. ( 26506042 )
2015
32
A Modified One-Stage Early Correction of Blepharophimosis Syndrome Using Tutopatch Slings. ( 26043072 )
2015
33
Limited ocular motility in a child with 3q23 microdeletion (&amp;quot;blepharophimosis syndrome plus&amp;quot;). ( 25032695 )
2014
34
Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. ( 24725350 )
2014
35
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. ( 24715367 )
2014
36
Blepharophimosis Syndrome With Absent Tear Production. ( 24777257 )
2014
37
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24722273 )
2014
38
[Pay attention to patient's visual function in oculoplastic surgery for congenital blepharophimosis syndrome]. ( 25385371 )
2014
39
One-stage correction of blepharophimosis-ptosis-epicanthus inversus syndrome using a frontalis muscle transfer technique. ( 23968369 )
2014
40
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. ( 24458743 )
2014
41
A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I. ( 24030029 )
2014
42
Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report. ( 24597293 )
2014
43
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). ( 25192944 )
2014
44
Cosmetic Comparison Between the Modified Uchida Method and the Mustarde Method for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 25180952 )
2014
45
Can single stage surgery in Blepharophimosis syndrome be practiced universally? ( 23896455 )
2013
46
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. ( 23513057 )
2013
47
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24212221 )
2013
48
Cosmetic outcome of Y-V medial canthoplasty in blepharophimosis syndrome. ( 23458039 )
2013
49
Differential Apoptotic and Proliferative Activities of Wild-type FOXL2 and Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)-associated Mutant FOXL2 Proteins. ( 24240106 )
2013
50
A Modified Staged Surgical Intervention for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: 125 Cases With Encouraging Results. ( 24164792 )
2013

Variations for Blepharophimosis

ClinVar genetic disease variations for Blepharophimosis:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 HUWE1 NM_031407.6(HUWE1): c.6485G> C (p.Arg2162Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 53569655: 53569655
2 HUWE1 NM_031407.6(HUWE1): c.6485G> C (p.Arg2162Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 53596615: 53596615
3 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic GRCh38 Chromosome 10, 75024984: 75024987
4 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic GRCh37 Chromosome 10, 76784742: 76784745
5 covers 21 genes, none of which curated to show dosage sensitivity GRCh37/hg19 5q31.1(chr5: 131484039-132998360)x3 copy number gain Uncertain significance GRCh37 Chromosome 5, 131484039: 132998360
6 ARID1B NM_020732.3(ARID1B): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs879253747 GRCh38 Chromosome 6, 157167101: 157167101
7 ARID1B NM_020732.3(ARID1B): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs879253747 GRCh37 Chromosome 6, 157488235: 157488235
8 ARID1B NC_000006.11: g.(?_157099064)_(158366109_?)del deletion Pathogenic GRCh37 Chromosome 6, 157099064: 158366109
9 ARID1B NM_020732.3(ARID1B): c.4273dupT (p.Tyr1425Leufs) duplication Pathogenic rs879253746 GRCh38 Chromosome 6, 157200867: 157200867
10 ARID1B NM_020732.3(ARID1B): c.4273dupT (p.Tyr1425Leufs) duplication Pathogenic rs879253746 GRCh37 Chromosome 6, 157522001: 157522001
11 ARID1B NM_020732.3(ARID1B): c.3208_3209delAA (p.Lys1070Alafs) deletion Pathogenic rs879253745 GRCh38 Chromosome 6, 157181041: 157181042
12 ARID1B NM_020732.3(ARID1B): c.3208_3209delAA (p.Lys1070Alafs) deletion Pathogenic rs879253745 GRCh37 Chromosome 6, 157502175: 157502176
13 ARID1B NM_020732.3(ARID1B): c.2306_2308delCCGinsTCCGCAGCCACTCC (p.Pro769Leufs) indel Pathogenic rs879253856 GRCh38 Chromosome 6, 157110496: 157110498
14 ARID1B NM_020732.3(ARID1B): c.2306_2308delCCGinsTCCGCAGCCACTCC (p.Pro769Leufs) indel Pathogenic rs879253856 GRCh37 Chromosome 6, 157431630: 157431632

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 positive regulation of epithelial cell proliferation GO:0050679 8.96 FOXP2 TWIST1
2 negative regulation of transcription, DNA-templated GO:0045892 8.92 FOXL2 FOXP2 KAT6B TWIST1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 ADNP ARID1B FOXL2 FOXP2 TWIST1
2 transcription factor binding GO:0008134 9.33 KAT6B MED12 TWIST1
3 DNA binding GO:0003677 9.1 ADNP ARID1B FOXL2 FOXP2 KAT6B TWIST1

Sources for Blepharophimosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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