MCID: BLP004
MIFTS: 38

Blepharophimosis

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Blepharophimosis

MalaCards integrated aliases for Blepharophimosis:

Name: Blepharophimosis 12 75 53 29 55 6 44 15 72

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology 12 DOID:10348
ICD9CM 35 374.46
MeSH 44 D016569
ICD10 33 H02.52
UMLS 72 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.

Wikipedia : 75 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 217)
# Related Disease Score Top Affiliating Genes
1 blepharophimosis, ptosis, and epicanthus inversus 34.5 FOXP2 FOXL2
2 ohdo syndrome, sbbys variant 33.8 KAT6B FOXL2
3 ohdo syndrome 33.3 MED12 KAT6B FOXL2
4 ptosis 31.2 UBE3B TWIST1 KAT6B FOXL2
5 epicanthus 30.0 UBE3B TWIST1 RBP1 FOXP2 FOXL2
6 goldberg-shprintzen syndrome 29.7 MED12 KAT6B
7 blepharophimosis intellectual disability syndromes 12.7
8 blepharophimosis with ptosis, syndactyly, and short stature 12.6
9 blepharophimosis with facial and genital anomalies and mental retardation 12.4
10 atrioventricular septal defect with blepharophimosis and anal and radial defects 12.3
11 kaufman oculocerebrofacial syndrome 12.2
12 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies 12.2
13 pseudopapilledema blepharophimosis hand anomalies 12.2
14 corpus callosum agenesis of blepharophimosis robin type 12.1
15 obsolete: blepharophimosis-radioulnar synostosis syndrome 12.1
16 van den ende-gupta syndrome 12.1
17 ohdo syndrome, x-linked 12.1
18 ohdo syndrome, say-barber-biesecker-young-simpson variant 12.0
19 marden walker like syndrome 12.0
20 schwartz-jampel syndrome, type 1 11.9
21 ohdo syndrome, maat-kievit-brunner type 11.9
22 marden-walker syndrome 11.7
23 3mc syndrome 1 11.6
24 3mc syndrome 11.6
25 jorgenson lenz syndrome 11.6
26 arthrogryposis, distal, type 2a 11.6
27 krieble bixler syndrome 11.4
28 corpus callosum, agenesis of, with facial anomalies and robin sequence 11.3
29 myhre syndrome 11.2
30 schilbach-rott syndrome 11.2
31 frontofacionasal dysplasia 11.2
32 3mc syndrome 3 11.2
33 3mc syndrome 2 11.2
34 nablus mask-like facial syndrome 11.2
35 orofaciodigital syndrome xi 11.2
36 simosa craniofacial syndrome 11.1
37 chromosome 8q22.1 duplication syndrome 11.1
38 skin creases, congenital symmetric circumferential, 1 11.1
39 ptosis, hereditary congenital 1 11.1
40 arterial tortuosity syndrome 11.1
41 bartsocas-papas syndrome 11.1
42 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.1
43 koolen-de vries syndrome 11.1
44 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.1
45 intellectual developmental disorder with dysmorphic facies and ptosis 11.1
46 telecanthus 10.6
47 premature ovarian failure 1 10.6
48 infertility 10.4
49 microcephaly 10.4
50 suppression amblyopia 10.4

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

Drugs & Therapeutics for Blepharophimosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Recruiting NCT01144741

Search 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, Skin, Testes, Testis

Publications for Blepharophimosis

Articles related to Blepharophimosis:

(show top 50) (show all 650)
# Title Authors PMID Year
1
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions. 9 38
20232352 2010
2
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome. 9 38
20184535 2010
3
The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity. 9 38
20209145 2010
4
Identification of a novel mutation in FOXL2 gene that leads to blepharophimosis ptosis epicanthus inversus and telecanthus syndrome in a Tunisian consanguineous family. 9 38
19929410 2010
5
The forkhead factor FOXL2: a novel tumor suppressor? 9 38
19747961 2010
6
Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. 9 38
19543368 2009
7
FOXL2 mutations and genomic rearrangements in BPES. 9 38
18726931 2009
8
Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations. 9 38
19010791 2009
9
FOXL2: at the crossroads of female sex determination and ovarian function. 9 38
20429427 2009
10
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. 9 38
18642388 2008
11
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. 9 38
18372316 2008
12
A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. 9 38
17089161 2007
13
Foxl2 function in ovarian development. 9 38
16647286 2006
14
Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation. 9 38
16283882 2005
15
A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome. 9 38
16131596 2005
16
A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome. 9 38
16086270 2005
17
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. 9 38
15962237 2005
18
A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea: case report. 9 38
15459170 2004
19
FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences. 9 38
15081106 2004
20
The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance. 9 38
14736745 2004
21
Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian development. 9 38
12810580 2003
22
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. 9 38
12529855 2003
23
Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. 9 38
12630957 2003
24
Genetic disorders in premature ovarian failure. 9 38
12398227 2002
25
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. 9 38
11910558 2002
26
A fork in the road to fertility. 9 38
11175772 2001
27
Characterization of the human TBX20 gene, a new member of the T-Box gene family closely related to the Drosophila H15 gene. 9 38
10936053 2000
28
Genes and premature ovarian failure. 9 38
9922102 1998
29
Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene. 9 38
9727204 1998
30
Blepharophimosis syndrome is linked to chromosome 3q. 9 38
7795600 1995
31
Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum. 38
31176769 2019
32
Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report. 38
31366388 2019
33
Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations. 38
31077882 2019
34
Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus. 38
31048069 2019
35
A study of changes in levator muscle in congenital ptosis. 38
29705893 2019
36
New STAT3-FOXL2 pathway and its function in cancer cells. 38
31221094 2019
37
BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family. 38
31020800 2019
38
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review. 38
31162149 2019
39
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature. 38
31191203 2019
40
Nonsense variants in STAG2 result in distinct sex-dependent phenotypes. 38
30765867 2019
41
A Novel Medial Canthal Reconstruction Technique in Children With Blepharophimosis Syndrome. 38
31033640 2019
42
Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb. 38
30587846 2019
43
Prevalence of amblyopia in congenital blepharoptosis: a systematic review and Meta-analysis. 38
31341812 2019
44
Nablus syndrome: Easy to diagnose yet difficult to solve. 38
30580486 2018
45
Factors related to amblyopia in congenital ptosis after frontalis sling surgery. 38
30463547 2018
46
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance. 38
30079495 2018
47
Genomic Disruption of FOXL2 in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2: A Novel Deletion-Insertion Compound Mutation. 38
30246734 2018
48
Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. 38
30234390 2018
49
[Analysis of FOXL2 gene mutation and genotype-phenotype correlation in a Chinese pedigree affected with blepharophimosis-ptosis-epicanthus inversus syndrome]. 38
30098246 2018
50
Goldenhar syndrome with blepharophimosis and limb deformities: a case report. 38
30134872 2018

Variations for Blepharophimosis

ClinVar genetic disease variations for Blepharophimosis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ARID1B NM_020732.3(ARID1B): c.2306_2308delinsTCCGCAGCCACTCC (p.Pro769fs) indel Pathogenic rs879253856 6:157431630-157431632 6:157110496-157110498
2 ARID1B NM_020732.3(ARID1B): c.3208_3209del (p.Lys1070fs) deletion Pathogenic rs879253745 6:157502175-157502176 6:157181041-157181042
3 ARID1B NM_020732.3(ARID1B): c.4273dup (p.Tyr1425fs) duplication Pathogenic rs879253746 6:157522001-157522001 6:157200867-157200867
4 ARID1B deletion Pathogenic 6:157099064-158366109 :0-0
5 ARID1B NM_020732.3(ARID1B): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs879253747 6:157488235-157488235 6:157167101-157167101
6 46;XY;inv(1)(p22.3p34.1)dn inversion Pathogenic
7 KAT6B NM_012330.4(KAT6B): c.3399_3402del (p.Arg1133fs) deletion Likely pathogenic rs1554844486 10:76784742-76784745 10:75024984-75024987
8 HUWE1 NM_031407.7(HUWE1): c.6485G> C (p.Arg2162Pro) single nucleotide variant Uncertain significance rs1556948950 X:53596615-53596615 X:53569655-53569655
9 covers 21 genes, none of which curated to show dosage sensitivity GRCh37/hg19 5q31.1(chr5: 131484039-132998360)x3 copy number gain Uncertain significance 5:131484039-132998360 :0-0
10 ARG2 ; RDH11 ; RDH12 ; VTI1B ; ZFYVE26 GRCh37/hg19 14q24.1(chr14: 68126321-68269053)x3 copy number gain Uncertain significance 14:68110557-68283783 :0-0

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 TWIST1 FOXP2
2 negative regulation of transcription, DNA-templated GO:0045892 8.92 TWIST1 KAT6B FOXP2 FOXL2

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 TWIST1 FOXP2 FOXL2 ARID1B ADNP
2 transcription factor binding GO:0008134 9.33 TWIST1 MED12 KAT6B
3 DNA binding GO:0003677 9.1 TWIST1 KAT6B FOXP2 FOXL2 ARID1B ADNP

Sources for Blepharophimosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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