BPES
MCID: BLP046
MIFTS: 56

Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Blepharophimosis, Ptosis, and Epicanthus Inversus

MalaCards integrated aliases for Blepharophimosis, Ptosis, and Epicanthus Inversus:

Name: Blepharophimosis, Ptosis, and Epicanthus Inversus 57 25 43 29 6 44 39 70
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 12 20 43 72 15
Bpes 57 25 43 58 72
Blepharophimosis Syndrome 25 43 72
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 29 6
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 29 6
Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 57 13
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome 58 36
Bpes with Duane Retraction Syndrome 72 6
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure 58
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome with Premature Ovarian Failure 58
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2 58
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1 58
Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 2 57
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus 58
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome 12
Blepharophimosis, Ptosis, Epicanthus Inversus 73
Blepharophimosis Syndrome Type 1 70
Blepharophimosis Syndrome Type 2 70
Autosomal Recessive Bpes Type I 72
Autosomal Dominant Bpes Type I 72
Bpes Without Ovarian Failure 72
3q23 Microdeletion Syndrome 58
Bpes with Ovarian Failure 72
Bpes Type Ii 72
Bpes Type 2 58
Bpes Type 1 58
Bpes Type I 72
Bpes Plus 58

Characteristics:

Orphanet epidemiological data:

58
blepharophimosis-ptosis-epicanthus inversus syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
autosomal recessive (less common)

Miscellaneous:
two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2)


HPO:

31
blepharophimosis, ptosis, and epicanthus inversus:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance To date, almost all individuals heterozygous for a foxl2 pathogenic variant have the bpes phenotype; thus, penetrance is nearly complete for the eyelid phenotype....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14778
OMIM® 57 110100
KEGG 36 H00826
SNOMED-CT 67 79833006
ICD10 via Orphanet 33 Q10.3
UMLS via Orphanet 71 C0220663
UMLS 70 C0220663 C2931135 C2931136

Summaries for Blepharophimosis, Ptosis, and Epicanthus Inversus

MedlinePlus Genetics : 43 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited.Other structures in the eyes and face may be mildly affected by BPES. Affected individuals are at an increased risk of developing vision problems such as nearsightedness (myopia) or farsightedness (hyperopia) beginning in childhood. They may also have eyes that do not point in the same direction (strabismus) or "lazy eye" (amblyopia) affecting one or both eyes. People with BPES may also have distinctive facial features including a broad nasal bridge, low-set ears, or a shortened distance between the nose and upper lip (a short philtrum).There are two types of BPES, which are distinguished by their signs and symptoms. Both types I and II include the eyelid malformations and other facial features. Type I is also associated with an early loss of ovarian function (primary ovarian insufficiency) in women, which causes their menstrual periods to become less frequent and eventually stop before age 40. Primary ovarian insufficiency can lead to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility).

MalaCards based summary : Blepharophimosis, Ptosis, and Epicanthus Inversus, also known as blepharophimosis, ptosis, and epicanthus inversus syndrome, is related to epicanthus and blepharophimosis. An important gene associated with Blepharophimosis, Ptosis, and Epicanthus Inversus is FOXL2 (Forkhead Box L2). The drugs Ethanol and Finasteride have been mentioned in the context of this disorder. Affiliated tissues include Ovary, eye and breast, and related phenotypes are ptosis and depressed nasal bridge

Disease Ontology : 12 A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has material basis in heterozygous or rarely homozygous mutation in FOXL2 on chromosome 3q22.3.

GARD : 20 Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is present at birth and mainly involves the development of the eyelids. Symptoms of BPES include a narrow eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the lower eyelid (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus). Because the eyelids cannot open fully, vision may be limited. There are two types of BPES. Type 1 includes the eye involvement and premature ovarian failure (POF). In type 2, only the eyes are involved. BPES is caused by variants in the FOXL2 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, and confirmed by the results of genetic testing. Treatment is based on managing the symptoms and involves eyelid surgery. BPES, type 1 may also be treated with hormone replacement therapy.

OMIM® : 57 BPES syndrome includes a characteristic eyelid dysplasia, namely, small palpebral fissures (blepharophimosis), drooping eyelids (ptosis), and a tiny skin fold running inward and upward from the lower lid (epicanthus inversus). In type I BPES, the eyelid abnormalities are coinherited with ovarian failure; type II BPES consists of the eyelid defects only (summary by Crisponi et al., 2001). (110100) (Updated 20-May-2021)

KEGG : 36 Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease. The cardinal feature of this disease is a complex eyelid/ocular malformation such as blepharophimosis, ptosis, epicanthus inversus and telecanthus. The horizontal shortening of the palpebral aperture can lead to amblyopia. It is caused by mutations in FOXL2 gene that is involved in palpebral and ovarian development. Some of the female patients have premature ovarian failure (POF) and this condition is classified as BPES type I. BPES with normal ovarian function is referred to as BPES type II.

UniProtKB/Swiss-Prot : 72 Blepharophimosis, ptosis, and epicanthus inversus syndrome: A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the inner canthus. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects.

Wikipedia : 73 Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot... more...

GeneReviews: NBK1441

Related Diseases for Blepharophimosis, Ptosis, and Epicanthus Inversus

Diseases related to Blepharophimosis, Ptosis, and Epicanthus Inversus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 epicanthus 31.8 FOXP2 FOXL2 BPESC1
2 blepharophimosis 31.0 SOX14 PISRT1 MRPS22 FOXP2 FOXL2 BPESC1
3 ptosis 30.9 ZFHX4 SOX14 PISRT1 MRPS22 FOXL2 BPESC1
4 premature menopause 30.5 NR5A1 MRPS22 FOXL2 DIAPH2 BMP15
5 amenorrhea 30.4 NR5A1 FOXL2 DIAPH2 BMP15
6 congenital ptosis 30.3 ZFHX4 FOXL2
7 ohdo syndrome 11.4
8 46,xx sex reversal 5 10.9
9 suppression amblyopia 10.6
10 amblyopia 10.6
11 strabismus 10.5
12 mechanical strabismus 10.5
13 refractive error 10.5
14 telecanthus 10.5
15 hypogonadism 10.5
16 keratitis, hereditary 10.3
17 mccune-albright syndrome 10.3
18 persistent hyperplastic primary vitreous, autosomal recessive 10.3
19 propionic acidemia 10.3
20 endometrial cancer 10.3
21 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
22 alacrima, achalasia, and mental retardation syndrome 10.3
23 helix syndrome 10.3
24 congenital hypothyroidism 10.3
25 fibrous dysplasia 10.3
26 b-lymphoblastic leukemia/lymphoma 10.3
27 microphthalmia 10.3
28 spastic diplegia 10.3
29 lagophthalmos 10.3
30 corpus luteum cyst 10.3
31 hypothyroidism 10.3
32 axenfeld-rieger syndrome 10.3
33 ectropion 10.3
34 keratopathy 10.3
35 ovarian cyst 10.3
36 cataract 10.3
37 mitochondrial encephalomyopathy 10.3
38 alopecia areata 10.3
39 alopecia 10.3
40 chromosome 3q deletion 10.3
41 precocious puberty 10.3
42 wisconsin syndrome 10.3
43 euryblepharon 10.3
44 cleft palate, isolated 10.3
45 down syndrome 10.3
46 branchiootic syndrome 1 10.3
47 chudley-mccullough syndrome 10.3
48 brachydactyly 10.3
49 monocular esotropia 10.3
50 microcephaly 10.3

Graphical network of the top 20 diseases related to Blepharophimosis, Ptosis, and Epicanthus Inversus:



Diseases related to Blepharophimosis, Ptosis, and Epicanthus Inversus

Symptoms & Phenotypes for Blepharophimosis, Ptosis, and Epicanthus Inversus

Human phenotypes related to Blepharophimosis, Ptosis, and Epicanthus Inversus:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
4 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
5 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
6 abnormal lacrimal duct morphology 58 31 frequent (33%) Frequent (79-30%) HP:0011481
7 premature ovarian insufficiency 31 frequent (33%) HP:0008209
8 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
9 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
10 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
11 high palate 31 HP:0000218
12 wide nasal bridge 31 HP:0000431
13 increased circulating gonadotropin level 31 HP:0000837
14 female infertility 31 HP:0008222
15 precocious menopause 58 Frequent (79-30%)
16 microphthalmia 31 HP:0000568
17 highly arched eyebrow 31 HP:0002553
18 telecanthus 31 HP:0000506
19 microcornea 31 HP:0000482
20 cupped ear 31 HP:0000378
21 sparse pubic hair 31 HP:0002225
22 hypoplasia of the uterus 31 HP:0000013
23 irregular menstruation 31 HP:0000858
24 hypermetropia 31 HP:0000540
25 amenorrhea 31 HP:0000141
26 epicanthus inversus 31 HP:0000537

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
nystagmus
strabismus
microphthalmia
telecanthus
more
Head And Neck Mouth:
high-arched palate

Head And Neck Ears:
simple ears
cup-shaped ears

Head And Neck Nose:
flat, broad nasal bridge

Genitourinary External Genitalia Female:
scant pubic hair

Endocrine Features:
female infertility
amenorrhea
menstrual irregularities
elevated gonadotropins
low estrogen and progesterone
more
Head And Neck Head:
characteristic backward head tilt

Skin Nails Hair Hair:
pronounced convex arch of eyebrows
scant pubic hair (females)
scant pubic and axillary hair (females)

Chest Breasts:
normal breast development

Genitourinary Internal Genitalia Female:
small uterus
small atrophic ovaries

Clinical features from OMIM®:

110100 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Blepharophimosis, Ptosis, and Epicanthus Inversus according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.55 NR5A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.55 FOXE3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.55 HNF1B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.55 NR5A1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.55 FOXE3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.55 DIAPH2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.55 NR5A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.55 DIAPH2 NR5A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.55 FOXE3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.55 NR5A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.55 FOXE3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.55 FOXE3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.55 NR5A1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.55 HNF1B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.55 DIAPH2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.55 DIAPH2

Drugs & Therapeutics for Blepharophimosis, Ptosis, and Epicanthus Inversus

Drugs for Blepharophimosis, Ptosis, and Epicanthus Inversus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved 64-17-5 702
2
Finasteride Approved 98319-26-7 57363
3
Dutasteride Approved, Investigational 164656-23-9 152945 6918296
4
Imidacloprid Vet_approved 105827-78-9 86418
5 Anesthetics
6 Anesthetics, Local
7 5-alpha Reductase Inhibitors
8 Hormone Antagonists
9 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Implementation of a Screening Tool for Subjects With Benign Prostatic Enlargement/Obstruction to Identify Men >=50 Years Presenting in General Practice With Other Co-morbidities Who Should be Assessed for BPH Completed NCT02757963 Phase 4
2 ROPE Registry Project to Determine the Safety and Efficacy of Prostate Artery Embolisation (PAE) for Lower Urinary Tract Symptoms Secondary to Benign Prostatic Enlargement (LUTS BPE). Unknown status NCT02849522
3 ROPE Registry Project to Determine the Safety and Efficacy of Prostate Artery Embolisation (PAE) for Lower Urinary Tract Symptoms Secondary to Benign Prostatic Enlargement (LUTS BPE) Completed NCT02434575
4 A Pilot Investigation of Dutasteride (Avodart) After Failure of Finasteride (Proscar) In the Management of Symptomatic Prostatic Enlargement/Hypertrophy (BPE/H) Completed NCT00382356 Dutasteride
5 Prospective Analysis of Changes in Background Parenchymal Enhancement (BPE) and Amount of Fibroglandular Tissue on Breast MRI in Early Stage Breast Cancer Patients on Tamoxifen Withdrawn NCT01297231

Search NIH Clinical Center for Blepharophimosis, Ptosis, and Epicanthus Inversus

Cochrane evidence based reviews: blepharophimosis, ptosis, and epicanthus inversus

Genetic Tests for Blepharophimosis, Ptosis, and Epicanthus Inversus

Genetic tests related to Blepharophimosis, Ptosis, and Epicanthus Inversus:

# Genetic test Affiliating Genes
1 Blepharophimosis, Ptosis, and Epicanthus Inversus 29 FOXL2
2 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 29
3 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 29

Anatomical Context for Blepharophimosis, Ptosis, and Epicanthus Inversus

MalaCards organs/tissues related to Blepharophimosis, Ptosis, and Epicanthus Inversus:

40
Eye, Breast, Ovary, Uterus, Heart, Prostate, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Blepharophimosis, Ptosis, and Epicanthus Inversus:
# Tissue Anatomical CompartmentCell Relevance
1 Ovary Primordial Follicle Pre-Granulosa Cells Affected by disease

Publications for Blepharophimosis, Ptosis, and Epicanthus Inversus

Articles related to Blepharophimosis, Ptosis, and Epicanthus Inversus:

(show top 50) (show all 363)
# Title Authors PMID Year
1
A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. 25 57 61 6
17089161 2007
2
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. 61 25 6 57
11175783 2001
3
Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients. 61 57 6
21325395 2011
4
Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation. 6 57 61
16283882 2005
5
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. 25 6 61
18372316 2008
6
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. 25 57 61
15962237 2005
7
Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. 61 25 6
12938087 2003
8
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. 61 6 25
12529855 2003
9
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. 6 61 25
11468277 2001
10
Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). 61 25 57
10777667 2000
11
Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint. 57 25 61
10191085 1999
12
Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. 61 25 57
7633459 1995
13
Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]. 61 57 25
8074155 1994
14
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23. 25 61 57
8291545 1993
15
The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. 57 25 61
6613996 1983
16
Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation. 6 25
16219626 2005
17
A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice. 57 61
24565867 2014
18
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. 6 61
12567411 2003
19
Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. 61 6
12630957 2003
20
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families. 61 6
12400065 2002
21
Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22. 61 57
11474656 2001
22
Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome. 6 61
11776388 2001
23
Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23. 57 61
9799597 1998
24
A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q. 57 61
9321768 1997
25
Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion. 61 57
9266197 1997
26
Blepharophimosis syndrome (BPES) and additional abnormalities in a female with a balanced X:3 translocation. 61 57
8818456 1996
27
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. 61 57
7635472 1995
28
The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23? 61 57
7586651 1995
29
Blepharophimosis syndrome is linked to chromosome 3q. 57 61
7795600 1995
30
Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. 57 61
7897621 1995
31
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly. 61 57
7802022 1994
32
Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)). 61 57
7815425 1994
33
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23. 61 57
8275574 1993
34
Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene? 61 57
8256811 1993
35
Another example favouring the location of BPES at 3q2. 57 61
8481195 1993
36
Further evidence for the location of the BPES gene at 3q2. 61 57
1941972 1991
37
Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) 57 61
2769724 1989
38
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome) 61 57
3270326 1988
39
Blepharophimosis, ptosis, epicanthus inversus, and primary amenorrhea. A dominant trait. 61 57
475637 1979
40
Hereditary blepharophimosis, ptosis, and epicanthus inversus. 57 61
14429566 1960
41
One-stage correction of blepharophimosis-ptosis-epicanthus inversus syndrome using a frontalis muscle transfer technique. 61 25
23968369 2014
42
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. 61 25
23516377 2013
43
A new method of medial epicanthoplasty for patients with blepharophimosis-ptosis-epicanthus inversus syndrome. 61 25
22835816 2012
44
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female. 61 25
22906557 2012
45
BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1). 61 25
22887799 2012
46
Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25). 61 25
22171663 2012
47
A one-stage correction of the blepharophimosis syndrome using a standard combination of surgical techniques. 61 25
21455822 2011
48
Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome. 61 25
21562436 2011
49
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. 25 61
21825186 2011
50
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions. 61 25
20232352 2010

Variations for Blepharophimosis, Ptosis, and Epicanthus Inversus

ClinVar genetic disease variations for Blepharophimosis, Ptosis, and Epicanthus Inversus:

6 (show top 50) (show all 134)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXL2 FOXL2, 15-BP DUP, NT684 Duplication Pathogenic 4870 GRCh37:
GRCh38:
2 overlap with 2 genes Deletion Pathogenic 433554 GRCh37: 3:138925589-139157532
GRCh38:
3 FOXL2 NM_023067.4(FOXL2):c.205G>A (p.Glu69Lys) SNV Pathogenic 30507 rs387906920 GRCh37: 3:138665360-138665360
GRCh38: 3:138946518-138946518
4 FOXL2 NM_023067.4(FOXL2):c.142_173delinsGCGCT (p.Lys48_Ser58delinsAlaLeu) Indel Pathogenic 162043 rs672601357 GRCh37: 3:138665392-138665423
GRCh38: 3:138946550-138946581
5 FOXL2 NM_023067.4(FOXL2):c.965_983dup (p.Thr329fs) Duplication Pathogenic 162044 rs672601358 GRCh37: 3:138664581-138664582
GRCh38: 3:138945739-138945740
6 FOXL2 NM_023067.4(FOXL2):c.804dup (p.Gly269fs) Duplication Pathogenic 4858 rs797044528 GRCh37: 3:138664760-138664761
GRCh38: 3:138945918-138945919
7 FOXL2 NM_023067.4(FOXL2):c.843_865dup (p.His289fs) Duplication Pathogenic 180599 rs797044530 GRCh37: 3:138664699-138664700
GRCh38: 3:138945857-138945858
8 FOXL2 NM_023067.4(FOXL2):c.855_871del (p.Pro287fs) Deletion Pathogenic 4859 rs797044532 GRCh37: 3:138664694-138664710
GRCh38: 3:138945852-138945868
9 FOXL2 NM_023067.4(FOXL2):c.663_692dup (p.Ala225_Ala234dup) Duplication Pathogenic 369923 rs764243782 GRCh37: 3:138664872-138664873
GRCh38: 3:138946030-138946031
10 FOXL2 NM_023067.4(FOXL2):c.353_476dup (p.His159fs) Duplication Pathogenic 369909 rs1553752890 GRCh37: 3:138665088-138665089
GRCh38: 3:138946246-138946247
11 FOXL2 NM_023067.4(FOXL2):c.15C>A (p.Tyr5Ter) SNV Pathogenic 369886 rs1057516139 GRCh37: 3:138665550-138665550
GRCh38: 3:138946708-138946708
12 FOXL2 NM_023067.4(FOXL2):c.982del (p.Ala328fs) Deletion Pathogenic 369937 rs1057516184 GRCh37: 3:138664583-138664583
GRCh38: 3:138945741-138945741
13 FOXL2 NM_023067.4(FOXL2):c.674_703dup (p.Ala225_Ala234dup) Duplication Pathogenic 369925 rs1057516173 GRCh37: 3:138664861-138664862
GRCh38: 3:138946019-138946020
14 FOXL2 NM_023067.4(FOXL2):c.55G>T (p.Glu19Ter) SNV Pathogenic 634951 rs759236439 GRCh37: 3:138665510-138665510
GRCh38: 3:138946668-138946668
15 FOXL2 NM_023067.4(FOXL2):c.160A>G (p.Lys54Glu) SNV Pathogenic 634952 rs1559922657 GRCh37: 3:138665405-138665405
GRCh38: 3:138946563-138946563
16 FOXL2 NM_023067.4(FOXL2):c.998dup (p.Ala334fs) Duplication Pathogenic 634964 rs1559921797 GRCh37: 3:138664566-138664567
GRCh38: 3:138945724-138945725
17 FOXL2 NM_023067.4(FOXL2):c.1103del (p.Gly368fs) Deletion Pathogenic 634965 rs1559921677 GRCh37: 3:138664462-138664462
GRCh38: 3:138945620-138945620
18 FOXL2 NM_023067.4(FOXL2):c.18del (p.Glu7fs) Deletion Pathogenic 634966 rs1559922829 GRCh37: 3:138665547-138665547
GRCh38: 3:138946705-138946705
19 FOXL2 NM_023067.4(FOXL2):c.52_53del (p.Pro18fs) Deletion Pathogenic 634967 rs1559922782 GRCh37: 3:138665512-138665513
GRCh38: 3:138946670-138946671
20 FOXL2 NM_023067.4(FOXL2):c.377_380dup (p.Tyr127Ter) Duplication Pathogenic 634968 rs1559922476 GRCh37: 3:138665184-138665185
GRCh38: 3:138946342-138946343
21 FOXL2 NM_023067.4(FOXL2):c.384del (p.Tyr127_Trp128insTer) Deletion Pathogenic 634969 rs1559922473 GRCh37: 3:138665181-138665181
GRCh38: 3:138946339-138946339
22 FOXL2 NM_023067.4(FOXL2):c.384G>A (p.Trp128Ter) SNV Pathogenic 634970 rs1559922472 GRCh37: 3:138665181-138665181
GRCh38: 3:138946339-138946339
23 FOXL2 NM_023067.4(FOXL2):c.387del (p.Leu130fs) Deletion Pathogenic 634971 rs1559922470 GRCh37: 3:138665178-138665178
GRCh38: 3:138946336-138946336
24 FOXL2 NM_023067.4(FOXL2):c.399del (p.Cys134fs) Deletion Pathogenic 634972 rs1559922462 GRCh37: 3:138665166-138665166
GRCh38: 3:138946324-138946324
25 FOXL2 NM_023067.4(FOXL2):c.445_469dup (p.Pro157fs) Duplication Pathogenic 634973 rs1559922381 GRCh37: 3:138665095-138665096
GRCh38: 3:138946253-138946254
26 FOXL2 NM_023067.4(FOXL2):c.525del (p.Cys176fs) Deletion Pathogenic 634974 rs1559922308 GRCh37: 3:138665040-138665040
GRCh38: 3:138946198-138946198
27 FOXL2 NM_023067.4(FOXL2):c.549dup (p.Asp184fs) Duplication Pathogenic 634975 rs1559922261 GRCh37: 3:138665015-138665016
GRCh38: 3:138946173-138946174
28 FOXL2 NM_023067.4(FOXL2):c.551dup (p.Asp184fs) Duplication Pathogenic 634976 rs1559922257 GRCh37: 3:138665013-138665014
GRCh38: 3:138946171-138946172
29 FOXL2 NM_023067.4(FOXL2):c.669_681del (p.Ala224fs) Deletion Pathogenic 634977 rs1559922136 GRCh37: 3:138664884-138664896
GRCh38: 3:138946042-138946054
30 FOXL2 NM_023067.4(FOXL2):c.675_769dup (p.Pro257fs) Duplication Pathogenic 634978 rs1559922033 GRCh37: 3:138664795-138664796
GRCh38: 3:138945953-138945954
31 FOXL2 NM_023067.4(FOXL2):c.174_186del (p.Tyr59fs) Deletion Pathogenic 634955 rs1559922628 GRCh37: 3:138665379-138665391
GRCh38: 3:138946537-138946549
32 FOXL2 NM_023067.4(FOXL2):c.773del (p.Tyr258fs) Deletion Pathogenic 634980 rs1559922026 GRCh37: 3:138664792-138664792
GRCh38: 3:138945950-138945950
33 FOXL2 NM_023067.4(FOXL2):c.784C>T (p.Gln262Ter) SNV Pathogenic 634981 rs1559922013 GRCh37: 3:138664781-138664781
GRCh38: 3:138945939-138945939
34 FOXL2 NM_023067.4(FOXL2):c.700_701insAGCGGCTGCAGCAGCTGCGGCTGCAGCCGC (p.Ala234delinsGluArgLeuGlnGlnLeuArgLeuGlnProPro) Insertion Pathogenic 559900 rs1553752849 GRCh37: 3:138664864-138664865
GRCh38: 3:138946022-138946023
35 FOXL2 NM_023067.4(FOXL2):c.102dup (p.Gly35fs) Duplication Pathogenic 375303 rs1553752945 GRCh37: 3:138665462-138665463
GRCh38: 3:138946620-138946621
36 FOXL2 NM_023067.4(FOXL2):c.490A>T (p.Lys164Ter) SNV Pathogenic 397612 rs1060499717 GRCh37: 3:138665075-138665075
GRCh38: 3:138946233-138946233
37 FOXL2 NM_023067.4(FOXL2):c.632C>A (p.Ser211Ter) SNV Pathogenic 369918 rs1057516167 GRCh37: 3:138664933-138664933
GRCh38: 3:138946091-138946091
38 FOXL2 NM_023067.4(FOXL2):c.840_871del (p.Ala283fs) Deletion Pathogenic 369932 rs1057516179 GRCh37: 3:138664694-138664725
GRCh38: 3:138945852-138945883
39 FOXL2 NM_023067.4(FOXL2):c.612G>A (p.Trp204Ter) SNV Pathogenic 369915 rs1057516164 GRCh37: 3:138664953-138664953
GRCh38: 3:138946111-138946111
40 FOXL2 NM_023067.4(FOXL2):c.804del (p.Gly269fs) Deletion Pathogenic 369930 rs797044528 GRCh37: 3:138664761-138664761
GRCh38: 3:138945919-138945919
41 FOXL2 NM_023067.4(FOXL2):c.576dup (p.Lys193fs) Duplication Pathogenic 369912 rs1057516161 GRCh37: 3:138664988-138664989
GRCh38: 3:138946146-138946147
42 FOXL2 NM_023067.4(FOXL2):c.748_749del (p.Gly250fs) Deletion Pathogenic 369927 rs1057516175 GRCh37: 3:138664816-138664817
GRCh38: 3:138945974-138945975
43 FOXL2 NM_023067.4(FOXL2):c.171C>G (p.Tyr57Ter) SNV Pathogenic 369888 rs1057516141 GRCh37: 3:138665394-138665394
GRCh38: 3:138946552-138946552
44 FOXL2 NM_023067.4(FOXL2):c.674_695del (p.Ala225fs) Deletion Pathogenic 369924 rs1057516172 GRCh37: 3:138664870-138664891
GRCh38: 3:138946028-138946049
45 FOXL2 NM_023067.4(FOXL2):c.662_689del (p.Ala221fs) Deletion Pathogenic 369922 rs1057516170 GRCh37: 3:138664876-138664903
GRCh38: 3:138946034-138946061
46 FOXL2 NM_023067.4(FOXL2):c.856_857delinsA (p.Pro286fs) Indel Pathogenic 369933 rs1057516180 GRCh37: 3:138664708-138664709
GRCh38: 3:138945866-138945867
47 FOXL2 NM_023067.4(FOXL2):c.892dup (p.His298fs) Duplication Pathogenic 369934 rs1057516181 GRCh37: 3:138664672-138664673
GRCh38: 3:138945830-138945831
48 FOXL2 NM_023067.4(FOXL2):c.951_961dup (p.Gln321fs) Duplication Pathogenic 369936 rs1057516183 GRCh37: 3:138664603-138664604
GRCh38: 3:138945761-138945762
49 FOXL2 NM_023067.4(FOXL2):c.630_651dup (p.Cys218fs) Duplication Pathogenic 369917 rs1057516166 GRCh37: 3:138664913-138664914
GRCh38: 3:138946071-138946072
50 FOXL2 NM_023067.4(FOXL2):c.827dup (p.Leu277fs) Duplication Pathogenic 369931 rs1057516178 GRCh37: 3:138664737-138664738
GRCh38: 3:138945895-138945896

UniProtKB/Swiss-Prot genetic disease variations for Blepharophimosis, Ptosis, and Epicanthus Inversus:

72 (show all 24)
# Symbol AA change Variation ID SNP ID
1 FOXL2 p.Ile84Ser VAR_016883 rs28937884
2 FOXL2 p.Leu106Phe VAR_016885 rs105751615
3 FOXL2 p.Asn109Lys VAR_016886
4 FOXL2 p.Ser217Phe VAR_016887 rs797044527
5 FOXL2 p.Ser58Leu VAR_021196
6 FOXL2 p.Ala66Val VAR_021197
7 FOXL2 p.Glu69Lys VAR_021198 rs387906920
8 FOXL2 p.His104Arg VAR_021199 rs105751615
9 FOXL2 p.Asn105Ser VAR_021200
10 FOXL2 p.Lys193Arg VAR_021202 rs105751616
11 FOXL2 p.Tyr215Cys VAR_021203 rs105751616
12 FOXL2 p.Met65Val VAR_046490 rs155992262
13 FOXL2 p.Ile80Thr VAR_046491
14 FOXL2 p.Ile84Asn VAR_046492
15 FOXL2 p.Phe90Ser VAR_046493
16 FOXL2 p.Trp98Gly VAR_046494
17 FOXL2 p.Ser101Arg VAR_046495 rs105751615
18 FOXL2 p.Ile102Thr VAR_046496
19 FOXL2 p.Arg103Cys VAR_046497
20 FOXL2 p.Leu106Pro VAR_046498
21 FOXL2 p.Ile63Thr VAR_062545 rs131507348
22 FOXL2 p.Trp98Arg VAR_062546 rs105751614
23 FOXL2 p.Leu108Pro VAR_062547
24 FOXL2 p.Ser217Cys VAR_062549

Copy number variations for Blepharophimosis, Ptosis, and Epicanthus Inversus from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 168663 3 131500000 156300000 Microdeletion FOXL2 Blepharophimosis-ptosis-epicanthus inversus syndrome
2 169169 3 138663066 138665982 Deletion FOXL2 Blepharophimosis-ptosis-epicanthus inversus syndrome
3 169334 3 140145755 140148491 Deletion FOXL2 Blepharophimosis syndrome
4 169333 3 140145755 140148491 Deletion FOXL2 Blepharophimosis syndrome

Expression for Blepharophimosis, Ptosis, and Epicanthus Inversus

Search GEO for disease gene expression data for Blepharophimosis, Ptosis, and Epicanthus Inversus.

Pathways for Blepharophimosis, Ptosis, and Epicanthus Inversus

GO Terms for Blepharophimosis, Ptosis, and Epicanthus Inversus

Cellular components related to Blepharophimosis, Ptosis, and Epicanthus Inversus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.23 ZFHX4 SOX14 NR5A1 HNF1B FOXP2 FOXL2

Biological processes related to Blepharophimosis, Ptosis, and Epicanthus Inversus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.87 ZFHX4 SOX14 NR5A1 FOXP2 FOXL2 FOXE3
2 positive regulation of transcription, DNA-templated GO:0045893 9.7 ZIC1 OSR2 NR5A1 HNF1B FOXL2 FOXE1
3 anatomical structure morphogenesis GO:0009653 9.56 SOX14 FOXL2 FOXE3 FOXE1
4 cell differentiation GO:0030154 9.56 ZIC1 SOX14 OSR2 NR5A1 FOXL2 FOXE3
5 ovarian follicle development GO:0001541 9.4 FOXL2 BMP15
6 female gamete generation GO:0007292 9.37 DIAPH2 BMP15
7 regulation of transcription by RNA polymerase II GO:0006357 9.32 ZIC4 ZIC1 ZFHX4 OSR2 NR5A1 HNF1B

Molecular functions related to Blepharophimosis, Ptosis, and Epicanthus Inversus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.07 ZIC4 ZIC1 ZFHX4 SOX14 NR5A1 HNF1B
2 DNA-binding transcription factor activity GO:0003700 9.87 ZIC1 NR5A1 HNF1B FOXP2 FOXL2 FOXE3
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.85 ZIC4 ZIC1 ZFHX4 SOX14 NR5A1 HNF1B
4 sequence-specific double-stranded DNA binding GO:1990837 9.8 ZIC4 ZIC1 SOX14 OSR2 NR5A1 FOXL2
5 sequence-specific DNA binding GO:0043565 9.56 SOX14 OSR2 NR5A1 HNF1B FOXP2 FOXL2
6 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.36 ZIC4 ZIC1 ZFHX4 SOX14 OSR2 NR5A1

Sources for Blepharophimosis, Ptosis, and Epicanthus Inversus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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