BPES
MCID: BLP046
MIFTS: 46

Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic 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 58 25 26 30 6 45 41 74
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 39 12 26 76 15
Bpes 58 25 26 76
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 54 30 6
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 54 30 6
Blepharophimosis Syndrome 25 26 76
Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 58 13
Blepharophimosis Syndrome Type 1 54 74
Blepharophimosis Syndrome Type 2 54 74
Blepharophimosis, Ptosis, and Epicanthus Inversus Without Premature Ovarian Failure 54
Blepharophimosis-Epicanthus Inversus-Ptosis Due to 3q23 Rearrangement Syndrome 60
Blepharophimosis-Epicanthus Inversus-Ptosis Due to a Point Mutation Syndrome 60
Blepharophimosis-Epicanthus Inversus-Ptosis Due to Copy Number Variations 60
Blepharophimosis, Ptosis, Epicanthus Inversus with Ovarian Failure 54
Blepharophimosis Types 1 and 2 Due to Copy Number Variations 60
Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 2 58
Blepharophimosis-Epicanthus Inversus-Ptosis Due to a Cnv 60
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome 12
Blepharophimosis Types 1 and 2 Due to a Point Mutation 60
Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome 60
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome 38
Blepharophimosis, Ptosis, Epicanthus Inversus 77
Bpes Without Premature Ovarian Failure 54
Bpes with Premature Ovarian Failure 54
Bpes with Duane Retraction Syndrome 76
Autosomal Recessive Bpes Type I 76
Blepharophimosis Types 1 and 2 60
Autosomal Dominant Bpes Type I 76
Bpes Without Ovarian Failure 76
Bpes with Ovarian Failure 76
Bpes Type Ii 76
Bpes Type 1 54
Bpes Type 2 54
Bpes Type I 76

Characteristics:

Orphanet epidemiological data:

60
blepharophimosis-epicanthus inversus-ptosis syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;
blepharophimosis-epicanthus inversus-ptosis due to copy number variations
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal;
blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal;
blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
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:



Summaries for Blepharophimosis, Ptosis, and Epicanthus Inversus

NIH Rare Diseases : 54 Blepharophimosis, ptosis and epicanthus inversus syndrome type 1 (BPES I) is a condition, present at birth, that mainly effects the development of the eyelids.  People with this condition have narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus).  Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited.  Blepharophimosis syndrome type 1 also causes premature ovarian failure (POF).  This condition is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant pattern.

MalaCards based summary : Blepharophimosis, Ptosis, and Epicanthus Inversus, also known as blepharophimosis, ptosis, and epicanthus inversus syndrome, is related to blepharophimosis and epicanthus. An important gene associated with Blepharophimosis, Ptosis, and Epicanthus Inversus is FOXL2 (Forkhead Box L2). Affiliated tissues include Ovary, skin and eye, and related phenotypes are ptosis and depressed nasal bridge

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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 : 77 Blepharophimosis is a congenital condition characterized by a horizontally narrow palpebral fissure. It... more...

Description from OMIM: 110100
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 55)
# Related Disease Score Top Affiliating Genes
1 blepharophimosis 32.6 BPESC1 FOXL2 FOXP2
2 epicanthus 31.6 FOXL2 FOXP2
3 ptosis 31.1 BPESC1 FOXL2 PISRT1
4 premature ovarian failure 1 30.4 BMP15 FOXL2 FOXP2
5 ovarian disease 29.6 BMP15 FOXL2
6 3mc syndrome 1 11.5
7 ohdo syndrome 11.4
8 blepharophimosis intellectual disability syndromes 11.2
9 telecanthus 10.6
10 dandy-walker complex 10.5
11 hypogonadism 10.5
12 hypogonadotropism 10.5
13 persistent hyperplastic primary vitreous, autosomal recessive 10.4
14 propionic acidemia 10.4
15 alopecia 10.4
16 congenital hypothyroidism 10.4
17 spastic diplegia 10.4
18 hypothyroidism 10.4
19 axenfeld-rieger syndrome 10.4
20 ovarian cyst 10.4
21 alopecia areata 10.4
22 bowenoid papulosis 10.4
23 precocious puberty 10.4
24 wisconsin syndrome 10.4
25 suppression amblyopia 10.4
26 amblyopia 10.4
27 amenorrhea 10.4
28 strabismus 10.3
29 brachydactyly 10.3
30 congenital ptosis 10.3
31 albright's hereditary osteodystrophy 10.3
32 premature menopause 10.3
33 mechanical strabismus 10.3
34 refractive error 10.3
35 microcephaly 10.3
36 xp22.3 microdeletion syndrome 10.2
37 eyelid disease 10.0 FOXL2 PISRT1
38 breast cancer 10.0
39 moebius syndrome 10.0
40 hydronephrosis 10.0
41 heart disease 10.0
42 charlie m syndrome 10.0
43 chromosomal triplication 10.0
44 dwarfism 10.0
45 plagiocephaly 10.0
46 gonadal dysgenesis 9.9 BMP15 FOXL2
47 gonadal disease 9.9 BMP15 FOXL2
48 lacrimal duct defect 9.8
49 optic nerve hypoplasia, bilateral 9.8
50 ohdo syndrome, x-linked 9.8

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:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
2 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
3 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
4 blepharophimosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000581
5 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
6 premature ovarian insufficiency 33 frequent (33%) HP:0008209
7 abnormal lacrimal duct morphology 33 frequent (33%) HP:0011481
8 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
9 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
10 synophrys 60 33 occasional (7.5%) Occasional (29-5%) HP:0000664
11 high palate 33 HP:0000218
12 wide nasal bridge 33 HP:0000431
13 increased circulating gonadotropin level 33 HP:0000837
14 female infertility 33 HP:0008222
15 precocious menopause 60 Frequent (79-30%)
16 telecanthus 33 HP:0000506
17 microphthalmia 33 HP:0000568
18 microcornea 33 HP:0000482
19 abnormality of the lacrimal duct 60 Frequent (79-30%)
20 hypoplasia of the uterus 33 HP:0000013
21 cupped ear 33 HP:0000378
22 amenorrhea 33 HP:0000141
23 hypermetropia 33 HP:0000540
24 abnormality of the breast 33 HP:0000769
25 epicanthus inversus 33 HP:0000537
26 abnormal hair morphology 33 HP:0001595

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
nystagmus
strabismus
telecanthus
microphthalmia
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

Drugs & Therapeutics for Blepharophimosis, Ptosis, and Epicanthus Inversus

Search Clinical Trials , 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 30 FOXL2
2 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 30
3 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 30

Anatomical Context for Blepharophimosis, Ptosis, and Epicanthus Inversus

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

42
Skin, Eye, Breast, Uterus, Heart, Ovary
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 all 31)
# Title Authors Year
1
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. ( 31077882 )
2019
2
[Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome]. ( 28604951 )
2017
3
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype. ( 26506042 )
2016
4
Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome. ( 25416281 )
2015
5
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. ( 23513057 )
2013
6
A rare cause of congenital ptosis: Blepharophimosis, ptosis and epicanthus inversus syndrome. ( 23560022 )
2012
7
Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients. ( 21325395 )
2011
8
Histological and ultrastructural study on the medial canthal ligament of blepharophimosis, ptosis and epicanthus inversus syndrome. ( 19951599 )
2009
9
Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype. ( 18541966 )
2008
10
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. ( 18372316 )
2008
11
A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. ( 17089161 )
2007
12
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case. ( 16814186 )
2006
13
A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome. ( 16086270 )
2005
14
Premature menopause in association with blepharophimosis, ptosis, and epicanthus inversus. ( 16147759 )
2005
15
Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation. ( 16283882 )
2005
16
Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation. ( 16219626 )
2005
17
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. ( 12567411 )
2003
18
Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. ( 12630957 )
2003
19
The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). ( 14710475 )
2003
20
Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. ( 12938087 )
2003
21
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. ( 12529855 )
2003
22
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families. ( 12400065 )
2002
23
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. ( 11175783 )
2001
24
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. ( 11468277 )
2001
25
Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome. ( 11776388 )
2001
26
Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. ( 9762009 )
1998
27
Concerning the article by Ogata et al. Hypergonadotrophic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. ( 10206790 )
1998
28
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly. ( 7802022 )
1994
29
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. ( 8291545 )
1993
30
The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. ( 6613996 )
1983
31
Hereditary blepharophimosis, ptosis, and epicanthus inversus. ( 14429566 )
1960

Variations for Blepharophimosis, Ptosis, and Epicanthus Inversus

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

76 (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
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

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

6 (show top 50) (show all 169)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXL2 NM_023067.3(FOXL2): c.655C> T (p.Gln219Ter) single nucleotide variant Pathogenic rs104893741 GRCh37 Chromosome 3, 138664910: 138664910
2 FOXL2 NM_023067.3(FOXL2): c.655C> T (p.Gln219Ter) single nucleotide variant Pathogenic rs104893741 GRCh38 Chromosome 3, 138946068: 138946068
3 FOXL2 NM_023067.4(FOXL2) duplication Pathogenic rs387906321 GRCh37 Chromosome 3, 138664864: 138664893
4 FOXL2 NM_023067.4(FOXL2) duplication Pathogenic rs387906321 GRCh38 Chromosome 3, 138946022: 138946051
5 FOXL2 NM_023067.3(FOXL2): c.53_54delCA (p.Pro18Argfs) deletion Pathogenic rs863225450 GRCh37 Chromosome 3, 138665511: 138665512
6 FOXL2 NM_023067.3(FOXL2): c.53_54delCA (p.Pro18Argfs) deletion Pathogenic rs863225450 GRCh38 Chromosome 3, 138946669: 138946670
7 FOXL2 NM_023067.4(FOXL2): c.912_919dup (p.Pro307Hisfs) duplication Pathogenic rs863225451 GRCh37 Chromosome 3, 138664646: 138664653
8 FOXL2 NM_023067.4(FOXL2): c.912_919dup (p.Pro307Hisfs) duplication Pathogenic rs863225451 GRCh38 Chromosome 3, 138945804: 138945811
9 FOXL2 NM_023067.4(FOXL2): c.178_192dup (p.Ala64_Met65insValAlaLeuIleAla) duplication Pathogenic rs863225452 GRCh37 Chromosome 3, 138665373: 138665387
10 FOXL2 NM_023067.4(FOXL2): c.178_192dup (p.Ala64_Met65insValAlaLeuIleAla) duplication Pathogenic rs863225452 GRCh38 Chromosome 3, 138946531: 138946545
11 FOXL2 NM_023067.4(FOXL2): c.804dup (p.Gly269Argfs) duplication Pathogenic rs797044528 GRCh37 Chromosome 3, 138664761: 138664761
12 FOXL2 NM_023067.4(FOXL2): c.804dup (p.Gly269Argfs) duplication Pathogenic rs797044528 GRCh38 Chromosome 3, 138945919: 138945919
13 FOXL2 NM_023067.3(FOXL2): c.855_871del17 (p.Pro287Alafs) deletion Pathogenic rs797044532 GRCh37 Chromosome 3, 138664694: 138664710
14 FOXL2 NM_023067.3(FOXL2): c.855_871del17 (p.Pro287Alafs) deletion Pathogenic rs797044532 GRCh38 Chromosome 3, 138945852: 138945868
15 FOXL2 NM_023067.3(FOXL2): c.157C> T (p.Gln53Ter) single nucleotide variant Pathogenic rs104893737 GRCh37 Chromosome 3, 138665408: 138665408
16 FOXL2 NM_023067.3(FOXL2): c.157C> T (p.Gln53Ter) single nucleotide variant Pathogenic rs104893737 GRCh38 Chromosome 3, 138946566: 138946566
17 FOXL2 NM_023067.3(FOXL2): c.822C> G (p.Tyr274Ter) single nucleotide variant Pathogenic rs104893738 GRCh37 Chromosome 3, 138664743: 138664743
18 FOXL2 NM_023067.3(FOXL2): c.822C> G (p.Tyr274Ter) single nucleotide variant Pathogenic rs104893738 GRCh38 Chromosome 3, 138945901: 138945901
19 FOXL2 NM_023067.3(FOXL2) duplication Pathogenic rs387906322 GRCh37 Chromosome 3, 138664867: 138664867
20 FOXL2 NM_023067.3(FOXL2) duplication Pathogenic rs387906322 GRCh38 Chromosome 3, 138946025: 138946025
21 FOXL2 NM_023067.3(FOXL2): c.251T> G (p.Ile84Ser) single nucleotide variant Pathogenic rs28937884 GRCh37 Chromosome 3, 138665314: 138665314
22 FOXL2 NM_023067.3(FOXL2): c.251T> G (p.Ile84Ser) single nucleotide variant Pathogenic rs28937884 GRCh38 Chromosome 3, 138946472: 138946472
23 FOXL2 NM_023067.3(FOXL2): c.295C> T (p.Gln99Ter) single nucleotide variant Pathogenic rs121908358 GRCh37 Chromosome 3, 138665270: 138665270
24 FOXL2 NM_023067.3(FOXL2): c.295C> T (p.Gln99Ter) single nucleotide variant Pathogenic rs121908358 GRCh38 Chromosome 3, 138946428: 138946428
25 FOXL2 NM_023067.3(FOXL2): c.586C> T (p.Gln196Ter) single nucleotide variant Pathogenic rs104893739 GRCh37 Chromosome 3, 138664979: 138664979
26 FOXL2 NM_023067.3(FOXL2): c.586C> T (p.Gln196Ter) single nucleotide variant Pathogenic rs104893739 GRCh38 Chromosome 3, 138946137: 138946137
27 FOXL2 NM_023067.4(FOXL2): c.855_871dup (p.His291Argfs) duplication Pathogenic rs797044532 GRCh37 Chromosome 3, 138664694: 138664710
28 FOXL2 NM_023067.4(FOXL2): c.855_871dup (p.His291Argfs) duplication Pathogenic rs797044532 GRCh38 Chromosome 3, 138945852: 138945868
29 FOXL2 NM_023067.4(FOXL2): c.959dup (p.Gln321Profs) duplication Pathogenic rs863225453 GRCh37 Chromosome 3, 138664606: 138664606
30 FOXL2 NM_023067.4(FOXL2): c.959dup (p.Gln321Profs) duplication Pathogenic rs863225453 GRCh38 Chromosome 3, 138945764: 138945764
31 FOXL2 FOXL2, 15-BP DUP, NT684 duplication Pathogenic
32 FOXL2 NM_023067.3(FOXL2): c.560G> A (p.Gly187Asp) single nucleotide variant Pathogenic rs121908359 GRCh37 Chromosome 3, 138665005: 138665005
33 FOXL2 NM_023067.3(FOXL2): c.560G> A (p.Gly187Asp) single nucleotide variant Pathogenic rs121908359 GRCh38 Chromosome 3, 138946163: 138946163
34 FOXL2 NM_023067.3(FOXL2): c.205G> A (p.Glu69Lys) single nucleotide variant Pathogenic rs387906920 GRCh37 Chromosome 3, 138665360: 138665360
35 FOXL2 NM_023067.3(FOXL2): c.205G> A (p.Glu69Lys) single nucleotide variant Pathogenic rs387906920 GRCh38 Chromosome 3, 138946518: 138946518
36 FOXL2 NM_023067.4(FOXL2): c.965_983dup (p.Thr329Glnfs) duplication Pathogenic rs672601358 GRCh37 Chromosome 3, 138664582: 138664600
37 FOXL2 NM_023067.4(FOXL2): c.965_983dup (p.Thr329Glnfs) duplication Pathogenic rs672601358 GRCh38 Chromosome 3, 138945740: 138945758
38 FOXL2 NM_023067.4(FOXL2): c.843_859dup (p.Pro287Argfs) duplication Pathogenic rs672601359 GRCh37 Chromosome 3, 138664706: 138664722
39 FOXL2 NM_023067.4(FOXL2): c.843_859dup (p.Pro287Argfs) duplication Pathogenic rs672601359 GRCh38 Chromosome 3, 138945864: 138945880
40 FOXL2 NM_023067.4(FOXL2): c.142_173del32insGCGCT (p.Lys48_Ser58delinsAlaLeu) indel Pathogenic rs672601357 GRCh37 Chromosome 3, 138665392: 138665423
41 FOXL2 NM_023067.4(FOXL2): c.142_173del32insGCGCT (p.Lys48_Ser58delinsAlaLeu) indel Pathogenic rs672601357 GRCh38 Chromosome 3, 138946550: 138946581
42 FOXL2 NM_023067.4(FOXL2): c.843_865dup (p.His289Argfs) duplication Pathogenic rs797044530 GRCh38 Chromosome 3, 138945858: 138945880
43 FOXL2 NM_023067.4(FOXL2): c.843_865dup (p.His289Argfs) duplication Pathogenic rs797044530 GRCh37 Chromosome 3, 138664700: 138664722
44 FOXL2 NM_023067.4(FOXL2): c.841_857dup (p.Pro287Argfs) duplication Pathogenic rs797044529 GRCh38 Chromosome 3, 138945866: 138945882
45 FOXL2 NM_023067.4(FOXL2): c.841_857dup (p.Pro287Argfs) duplication Pathogenic rs797044529 GRCh37 Chromosome 3, 138664708: 138664724
46 FOXL2 NM_023067.3(FOXL2): c.854delC (p.Pro285Argfs) deletion Pathogenic rs797044531 GRCh38 Chromosome 3, 138945869: 138945869
47 FOXL2 NM_023067.3(FOXL2): c.854delC (p.Pro285Argfs) deletion Pathogenic rs797044531 GRCh37 Chromosome 3, 138664711: 138664711
48 FOXL2 NM_023067.3(FOXL2): c.650C> T (p.Ser217Phe) single nucleotide variant Pathogenic rs797044527 GRCh38 Chromosome 3, 138946073: 138946073
49 FOXL2 NM_023067.3(FOXL2): c.650C> T (p.Ser217Phe) single nucleotide variant Pathogenic rs797044527 GRCh37 Chromosome 3, 138664915: 138664915
50 FOXL2 NM_023067.4(FOXL2) indel Benign GRCh37 Chromosome 3, 138664863: 138664904

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

7
# CNVD ID Chromosom 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 169333 3 140145755 140148491 Deletion FOXL2 Blepharophimosis syndrome
4 169334 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

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.33 FOXL2 FOXP2 HNF1B
2 ovarian follicle development GO:0001541 8.96 BMP15 FOXL2
3 positive regulation of transcription, DNA-templated GO:0045893 8.92 BMP15 FOXL2 HNF1B ZIC1

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 transcription factor activity, RNA polymerase II-specific GO:0000981 9.46 FOXL2 FOXP2 HNF1B ZIC1
2 sequence-specific DNA binding GO:0043565 9.43 FOXL2 FOXP2 HNF1B
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.13 FOXL2 FOXP2 ZIC1
4 DNA-binding transcription factor activity GO:0003700 8.92 FOXL2 FOXP2 HNF1B ZIC1

Sources for Blepharophimosis, Ptosis, and Epicanthus Inversus

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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