MCID: BLP004
MIFTS: 33

Blepharophimosis

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Blepharophimosis

MalaCards integrated aliases for Blepharophimosis:

Name: Blepharophimosis 12 77 54 30 56 6 45 15 74

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology 12 DOID:10348
ICD9CM 36 374.46
MeSH 45 D016569
ICD10 34 H02.52
UMLS 74 C0005744

Summaries for Blepharophimosis

MalaCards based summary : Blepharophimosis is related to blepharophimosis, ptosis, and epicanthus inversus and ohdo syndrome, sbbys variant, 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 : 77 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 118)
# Related Disease Score Top Affiliating Genes
1 blepharophimosis, ptosis, and epicanthus inversus 34.0 BPESC1 FOXL2 FOXP2
2 ohdo syndrome, sbbys variant 33.0 FOXL2 KAT6B
3 ohdo syndrome 33.0 FOXL2 KAT6B MED12
4 ptosis 30.8 BPESC1 FOXL2 KAT6B TWIST1 UBE3B
5 epicanthus 30.1 FOXL2 FOXP2 RBP1 TWIST1 UBE3B
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 11.8
16 marden walker like syndrome 11.7
17 jorgenson lenz syndrome 11.5
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 orofaciodigital syndrome xi 11.1
32 simosa craniofacial syndrome 11.0
33 schwartz-jampel syndrome, type 1 11.0
34 ohdo syndrome, maat-kievit-brunner type 11.0
35 chromosome 8q22.1 duplication syndrome 11.0
36 skin creases, congenital symmetric circumferential, 1 11.0
37 ptosis, hereditary congenital 1 11.0
38 bartsocas-papas syndrome 11.0
39 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.0
40 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.0
41 intellectual developmental disorder with dysmorphic facies and ptosis 11.0
42 telecanthus 10.3
43 microcephaly 10.2
44 craniosynostosis 1 10.1 KAT6B TWIST1
45 ovarian disease 10.1
46 hypothyroidism 10.1
47 retinitis pigmentosa 10.1
48 leber congenital amaurosis 4 10.1
49 cataract 10.1
50 brachydactyly 10.1

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:

27 (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 30

Anatomical Context for Blepharophimosis

MalaCards organs/tissues related to Blepharophimosis:

42
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
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 29339661 )
2018
3
Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency. ( 29378385 )
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
Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome. ( 28511421 )
2017
10
Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. ( 28924383 )
2017
11
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene. ( 28407407 )
2017
12
Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities. ( 28815864 )
2017
13
[Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome]. ( 28604951 )
2017
14
Re: Duarte etA al.: Lacrimal gland involvement in blepharophimosis-ptosis-epicanthus inversus syndrome (Ophthalmology. 2017;124:399-406). ( 29055375 )
2017
15
A unique and often overlooked cause of Blepharophimosis: &amp;quot;Whistling face syndrome&amp;quot;. ( 27625150 )
2016
16
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome. ( 27283035 )
2016
17
An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature. ( 27525095 )
2016
18
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209 )
2016
19
De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome. ( 28503614 )
2016
20
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. ( 27488160 )
2016
21
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
22
Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 27914838 )
2016
23
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1. ( 26100530 )
2015
24
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype. ( 26506042 )
2015
25
Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome. ( 25416281 )
2015
26
A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome. ( 27081523 )
2015
27
A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome. ( 25988799 )
2015
28
Rail-roading technique using 18 gauge intravenous catheter and silicon rod for frontalis suspension in blepharophimosis syndrome. ( 25674190 )
2015
29
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 26323275 )
2015
30
A Rare Association of Childhood Alopecia Areata and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: Successfully Treated with Diphenylcyclopropenone. ( 26180454 )
2015
31
Lost drill bit during medial canthoplasty for a blepharophimosis syndrome. ( 26586989 )
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
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). ( 25192944 )
2014
36
Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report. ( 24597293 )
2014
37
Cosmetic Comparison Between the Modified Uchida Method and the Mustarde Method for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. ( 25180952 )
2014
38
A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I. ( 24030029 )
2014
39
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. ( 24715367 )
2014
40
Blepharophimosis Syndrome With Absent Tear Production. ( 24777257 )
2014
41
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24722273 )
2014
42
[Pay attention to patient's visual function in oculoplastic surgery for congenital blepharophimosis syndrome]. ( 25385371 )
2014
43
One-stage correction of blepharophimosis-ptosis-epicanthus inversus syndrome using a frontalis muscle transfer technique. ( 23968369 )
2014
44
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. ( 24458743 )
2014
45
Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome. ( 23441113 )
2013
46
Can single stage surgery in Blepharophimosis syndrome be practiced universally? ( 23896455 )
2013
47
Single-stage surgery for Blepharophimosis syndrome. ( 23896456 )
2013
48
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. ( 23513057 )
2013
49
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24212221 )
2013
50
Cosmetic outcome of Y-V medial canthoplasty in blepharophimosis syndrome. ( 23458039 )
2013

Variations for Blepharophimosis

ClinVar genetic disease variations for Blepharophimosis:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;inv(1)(p22.3p34.1)dn inversion Pathogenic
2 ARID1B NM_020732.3(ARID1B): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs879253747 GRCh38 Chromosome 6, 157167101: 157167101
3 ARID1B NM_020732.3(ARID1B): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs879253747 GRCh37 Chromosome 6, 157488235: 157488235
4 ARID1B NC_000006.11: g.(?_157099064)_(158366109_?)del deletion Pathogenic GRCh37 Chromosome 6, 157099064: 158366109
5 ARID1B NM_020732.3(ARID1B): c.4273dupT (p.Tyr1425Leufs) duplication Pathogenic rs879253746 GRCh38 Chromosome 6, 157200867: 157200867
6 ARID1B NM_020732.3(ARID1B): c.4273dupT (p.Tyr1425Leufs) duplication Pathogenic rs879253746 GRCh37 Chromosome 6, 157522001: 157522001
7 ARID1B NM_020732.3(ARID1B): c.3208_3209delAA (p.Lys1070Alafs) deletion Pathogenic rs879253745 GRCh38 Chromosome 6, 157181041: 157181042
8 ARID1B NM_020732.3(ARID1B): c.3208_3209delAA (p.Lys1070Alafs) deletion Pathogenic rs879253745 GRCh37 Chromosome 6, 157502175: 157502176
9 ARID1B NM_020732.3(ARID1B): c.2306_2308delCCGinsTCCGCAGCCACTCC (p.Pro769Leufs) indel Pathogenic rs879253856 GRCh38 Chromosome 6, 157110496: 157110498
10 ARID1B NM_020732.3(ARID1B): c.2306_2308delCCGinsTCCGCAGCCACTCC (p.Pro769Leufs) indel Pathogenic rs879253856 GRCh37 Chromosome 6, 157431630: 157431632
11 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
12 HUWE1 NM_031407.6(HUWE1): c.6485G> C (p.Arg2162Pro) single nucleotide variant Uncertain significance rs1556948950 GRCh38 Chromosome X, 53569655: 53569655
13 HUWE1 NM_031407.6(HUWE1): c.6485G> C (p.Arg2162Pro) single nucleotide variant Uncertain significance rs1556948950 GRCh37 Chromosome X, 53596615: 53596615
14 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic rs1554844486 GRCh37 Chromosome 10, 76784742: 76784745
15 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic rs1554844486 GRCh38 Chromosome 10, 75024984: 75024987

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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