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 57 24 25 29 6 44 40 73
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 38 12 25 75 15
Bpes 57 24 25 75
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 53 29 6
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 53 29 6
Blepharophimosis Syndrome 24 25 75
Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 57 13
Blepharophimosis Syndrome Type 1 53 73
Blepharophimosis Syndrome Type 2 53 73
Blepharophimosis, Ptosis, and Epicanthus Inversus Without Premature Ovarian Failure 53
Blepharophimosis-Epicanthus Inversus-Ptosis Due to 3q23 Rearrangement Syndrome 59
Blepharophimosis-Epicanthus Inversus-Ptosis Due to a Point Mutation Syndrome 59
Blepharophimosis-Epicanthus Inversus-Ptosis Due to Copy Number Variations 59
Blepharophimosis, Ptosis, Epicanthus Inversus with Ovarian Failure 53
Blepharophimosis Types 1 and 2 Due to Copy Number Variations 59
Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 2 57
Blepharophimosis-Epicanthus Inversus-Ptosis Due to a Cnv 59
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome 12
Blepharophimosis Types 1 and 2 Due to a Point Mutation 59
Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome 59
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome 37
Blepharophimosis, Ptosis, Epicanthus Inversus 76
Bpes Without Premature Ovarian Failure 53
Bpes with Premature Ovarian Failure 53
Bpes with Duane Retraction Syndrome 75
Autosomal Recessive Bpes Type I 75
Blepharophimosis Types 1 and 2 59
Autosomal Dominant Bpes Type I 75
Bpes Without Ovarian Failure 75
Bpes with Ovarian Failure 75
Bpes Type Ii 75
Bpes Type 1 53
Bpes Type 2 53
Bpes Type I 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

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


HPO:

32
blepharophimosis, ptosis, and epicanthus inversus:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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 : 53 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 nystagmus

Genetics Home Reference : 25 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 : 75 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 : 76 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 all 42)
# Related Disease Score Top Affiliating Genes
1 blepharophimosis 32.6 FOXP2 FOXL2 BPESC1
2 epicanthus 31.5 FOXP2 FOXL2
3 ptosis 31.2 PISRT1 FOXL2 BPESC1
4 premature ovarian failure 1 30.5 FOXP2 FOXL2 BMP15
5 ovarian disease 29.7 FOXL2 BMP15
6 3mc syndrome 1 11.5
7 ohdo syndrome 11.3
8 blepharophimosis intellectual disability syndromes 11.2
9 telecanthus 10.6
10 axenfeld-rieger syndrome 10.5
11 dandy-walker complex 10.5
12 hypogonadism 10.5
13 persistent hyperplastic primary vitreous, autosomal recessive 10.3
14 propionic acidemia 10.3
15 alopecia 10.3
16 congenital hypothyroidism 10.3
17 spastic diplegia 10.3
18 hypothyroidism 10.3
19 ovarian cyst 10.3
20 alopecia areata 10.3
21 neonatal hypothyroidism 10.3
22 precocious puberty 10.3
23 wisconsin syndrome 10.3
24 amblyopia 10.3
25 amenorrhea 10.3
26 strabismus 10.3
27 brachydactyly 10.3
28 congenital ptosis 10.3
29 premature menopause 10.3
30 microcephaly 10.3
31 refractive error 10.3
32 eyelid disease 10.0 PISRT1 FOXL2
33 gonadal dysgenesis 10.0 FOXL2 BMP15
34 hydronephrosis 10.0
35 heart disease 10.0
36 dwarfism 10.0
37 plagiocephaly 10.0
38 gonadal disease 9.9 FOXL2 BMP15
39 lacrimal duct defect 9.8
40 optic nerve hypoplasia, bilateral 9.8
41 atrial heart septal defect 9.8
42 hypotonia 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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
2 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
3 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
4 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
5 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
6 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
7 blepharophimosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000581
8 synophrys 59 32 occasional (7.5%) Occasional (29-5%) HP:0000664
9 high palate 32 HP:0000218
10 wide nasal bridge 32 HP:0000431
11 increased circulating gonadotropin level 32 HP:0000837
12 premature ovarian insufficiency 32 frequent (33%) HP:0008209
13 female infertility 32 HP:0008222
14 precocious menopause 59 Frequent (79-30%)
15 telecanthus 32 HP:0000506
16 microphthalmia 32 HP:0000568
17 abnormality of the hair 32 HP:0001595
18 microcornea 32 HP:0000482
19 abnormality of the lacrimal duct 59 Frequent (79-30%)
20 hypoplasia of the uterus 32 HP:0000013
21 cupped ear 32 HP:0000378
22 amenorrhea 32 HP:0000141
23 hypermetropia 32 HP:0000540
24 abnormality of the breast 32 HP:0000769
25 epicanthus inversus 32 HP:0000537
26 abnormal lacrimal duct morphology 32 frequent (33%) HP:0011481

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 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:

41
Skin, Eye, Uterus, Ovary, Heart
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 18)
# Title Authors Year
1
[Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome]. ( 28604951 )
2017
2
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype. ( 26506042 )
2015
3
Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome. ( 25416281 )
2015
4
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. ( 23513057 )
2013
5
A rare cause of congenital ptosis: Blepharophimosis, ptosis and epicanthus inversus syndrome. ( 23560022 )
2012
6
Histological and ultrastructural study on the medial canthal ligament of blepharophimosis, ptosis and epicanthus inversus syndrome. ( 19951599 )
2009
7
Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype. ( 18541966 )
2008
8
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case. ( 16814186 )
2006
9
Premature menopause in association with blepharophimosis, ptosis, and epicanthus inversus. ( 16147759 )
2005
10
A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome. ( 16086270 )
2005
11
The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). ( 14710475 )
2003
12
Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. ( 9762009 )
1998
13
Concerning the article by Ogata et al. Hypergonadotrophic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. ( 10206790 )
1998
14
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly. ( 7802022 )
1994
15
Blepharophimosis, Ptosis, and Epicanthus Inversus ( 20301614 )
1993
16
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
17
The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. ( 6613996 )
1983
18
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:

75 (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.157C> T (p.Gln53Ter) single nucleotide variant Pathogenic rs104893737 GRCh38 Chromosome 3, 138946566: 138946566
2 FOXL2 NM_023067.3(FOXL2): c.822C> G (p.Tyr274Ter) single nucleotide variant Pathogenic rs104893738 GRCh37 Chromosome 3, 138664743: 138664743
3 FOXL2 NM_023067.3(FOXL2): c.822C> G (p.Tyr274Ter) single nucleotide variant Pathogenic rs104893738 GRCh38 Chromosome 3, 138945901: 138945901
4 FOXL2 NM_023067.3(FOXL2) duplication Pathogenic rs387906322 GRCh37 Chromosome 3, 138664867: 138664867
5 FOXL2 NM_023067.3(FOXL2) duplication Pathogenic rs387906322 GRCh38 Chromosome 3, 138946025: 138946025
6 FOXL2 NM_023067.3(FOXL2): c.251T> G (p.Ile84Ser) single nucleotide variant Pathogenic rs28937884 GRCh37 Chromosome 3, 138665314: 138665314
7 FOXL2 NM_023067.3(FOXL2): c.251T> G (p.Ile84Ser) single nucleotide variant Pathogenic rs28937884 GRCh38 Chromosome 3, 138946472: 138946472
8 FOXL2 NM_023067.3(FOXL2): c.295C> T (p.Gln99Ter) single nucleotide variant Pathogenic rs121908358 GRCh37 Chromosome 3, 138665270: 138665270
9 FOXL2 NM_023067.3(FOXL2): c.295C> T (p.Gln99Ter) single nucleotide variant Pathogenic rs121908358 GRCh38 Chromosome 3, 138946428: 138946428
10 FOXL2 NM_023067.3(FOXL2): c.586C> T (p.Gln196Ter) single nucleotide variant Pathogenic rs104893739 GRCh37 Chromosome 3, 138664979: 138664979
11 FOXL2 NM_023067.3(FOXL2): c.586C> T (p.Gln196Ter) single nucleotide variant Pathogenic rs104893739 GRCh38 Chromosome 3, 138946137: 138946137
12 FOXL2 NM_023067.3(FOXL2): c.855_871dup17 (p.His291Argfs) duplication Pathogenic rs797044532 GRCh37 Chromosome 3, 138664694: 138664710
13 FOXL2 NM_023067.3(FOXL2): c.855_871dup17 (p.His291Argfs) duplication Pathogenic rs797044532 GRCh38 Chromosome 3, 138945852: 138945868
14 FOXL2 NM_023067.3(FOXL2): c.959dupG (p.Gln321Profs) duplication Pathogenic rs863225453 GRCh37 Chromosome 3, 138664606: 138664606
15 FOXL2 NM_023067.3(FOXL2): c.959dupG (p.Gln321Profs) duplication Pathogenic rs863225453 GRCh38 Chromosome 3, 138945764: 138945764
16 FOXL2 NM_023067.3(FOXL2): c.560G> A (p.Gly187Asp) single nucleotide variant Pathogenic rs121908359 GRCh37 Chromosome 3, 138665005: 138665005
17 FOXL2 NM_023067.3(FOXL2): c.560G> A (p.Gly187Asp) single nucleotide variant Pathogenic rs121908359 GRCh38 Chromosome 3, 138946163: 138946163
18 FOXL2 NM_023067.3(FOXL2): c.843_865dup23 (p.His289Argfs) duplication Pathogenic rs797044530 GRCh38 Chromosome 3, 138945858: 138945880
19 FOXL2 NM_023067.3(FOXL2): c.843_865dup23 (p.His289Argfs) duplication Pathogenic rs797044530 GRCh37 Chromosome 3, 138664700: 138664722
20 FOXL2 NM_023067.3(FOXL2): c.841_857dup17 (p.Pro287Argfs) duplication Pathogenic rs797044529 GRCh38 Chromosome 3, 138945866: 138945882
21 FOXL2 NM_023067.3(FOXL2): c.841_857dup17 (p.Pro287Argfs) duplication Pathogenic rs797044529 GRCh37 Chromosome 3, 138664708: 138664724
22 FOXL2 NM_023067.3(FOXL2): c.854delC (p.Pro285Argfs) deletion Pathogenic rs797044531 GRCh38 Chromosome 3, 138945869: 138945869
23 FOXL2 NM_023067.3(FOXL2): c.854delC (p.Pro285Argfs) deletion Pathogenic rs797044531 GRCh37 Chromosome 3, 138664711: 138664711
24 FOXL2 NM_023067.3(FOXL2): c.650C> T (p.Ser217Phe) single nucleotide variant Pathogenic rs797044527 GRCh38 Chromosome 3, 138946073: 138946073
25 FOXL2 NM_023067.3(FOXL2): c.650C> T (p.Ser217Phe) single nucleotide variant Pathogenic rs797044527 GRCh37 Chromosome 3, 138664915: 138664915
26 FOXL2 NM_023067.3(FOXL2) indel Benign GRCh37 Chromosome 3, 138664863: 138664904
27 FOXL2 NM_023067.3(FOXL2) indel Benign GRCh38 Chromosome 3, 138946021: 138946062
28 FOXL2 NP_075555.1: p.Ala221[(15_24)] NT expansion Pathogenic
29 FOXL2 NM_023067.3(FOXL2): c.1011delC (p.Thr338Profs) deletion Pathogenic rs1057516185 GRCh38 Chromosome 3, 138945712: 138945712
30 FOXL2 NM_023067.3(FOXL2): c.1011delC (p.Thr338Profs) deletion Pathogenic rs1057516185 GRCh37 Chromosome 3, 138664554: 138664554
31 FOXL2 NM_023067.3(FOXL2): c.982delG (p.Ala328Profs) deletion Pathogenic rs1057516184 GRCh37 Chromosome 3, 138664583: 138664583
32 FOXL2 NM_023067.3(FOXL2): c.982delG (p.Ala328Profs) deletion Pathogenic rs1057516184 GRCh38 Chromosome 3, 138945741: 138945741
33 FOXL2 NM_023067.3(FOXL2): c.951_961dupGCCGCCGGGCC (p.Gln321Argfs) duplication Pathogenic rs1057516183 GRCh38 Chromosome 3, 138945762: 138945772
34 FOXL2 NM_023067.3(FOXL2): c.951_961dupGCCGCCGGGCC (p.Gln321Argfs) duplication Pathogenic rs1057516183 GRCh37 Chromosome 3, 138664604: 138664614
35 FOXL2 NM_023067.3(FOXL2): c.907_926dup20 (p.His312Argfs) duplication Pathogenic rs1057516182 GRCh37 Chromosome 3, 138664639: 138664658
36 FOXL2 NM_023067.3(FOXL2): c.907_926dup20 (p.His312Argfs) duplication Pathogenic rs1057516182 GRCh38 Chromosome 3, 138945797: 138945816
37 FOXL2 NM_023067.3(FOXL2): c.892dupC (p.His298Profs) duplication Pathogenic rs1057516181 GRCh38 Chromosome 3, 138945831: 138945831
38 FOXL2 NM_023067.3(FOXL2): c.892dupC (p.His298Profs) duplication Pathogenic rs1057516181 GRCh37 Chromosome 3, 138664673: 138664673
39 FOXL2 NM_023067.3(FOXL2): c.840_871del32 (p.Ala283Serfs) deletion Pathogenic rs1057516179 GRCh38 Chromosome 3, 138945852: 138945883
40 FOXL2 NM_023067.3(FOXL2): c.840_871del32 (p.Ala283Serfs) deletion Pathogenic rs1057516179 GRCh37 Chromosome 3, 138664694: 138664725
41 FOXL2 NM_023067.3(FOXL2): c.856_857delCCinsA (p.Pro286Ilefs) indel Pathogenic rs1057516180 GRCh38 Chromosome 3, 138945866: 138945867
42 FOXL2 NM_023067.3(FOXL2): c.856_857delCCinsA (p.Pro286Ilefs) indel Pathogenic rs1057516180 GRCh37 Chromosome 3, 138664708: 138664709
43 FOXL2 NM_023067.3(FOXL2): c.827dupG (p.Leu277Profs) duplication Pathogenic rs1057516178 GRCh38 Chromosome 3, 138945896: 138945896
44 FOXL2 NM_023067.3(FOXL2): c.827dupG (p.Leu277Profs) duplication Pathogenic rs1057516178 GRCh37 Chromosome 3, 138664738: 138664738
45 FOXL2 NM_023067.3(FOXL2): c.804delC (p.Gly269Alafs) deletion Pathogenic rs1057516177 GRCh37 Chromosome 3, 138664761: 138664761
46 FOXL2 NM_023067.3(FOXL2): c.804delC (p.Gly269Alafs) deletion Pathogenic rs1057516177 GRCh38 Chromosome 3, 138945919: 138945919
47 FOXL2 NM_023067.3(FOXL2): c.799C> A (p.Pro267Thr) single nucleotide variant Likely benign rs753641620 GRCh38 Chromosome 3, 138945924: 138945924
48 FOXL2 NM_023067.3(FOXL2): c.799C> A (p.Pro267Thr) single nucleotide variant Likely benign rs753641620 GRCh37 Chromosome 3, 138664766: 138664766
49 FOXL2 NM_023067.3(FOXL2): c.777dupA (p.Arg260Thrfs) duplication Pathogenic rs1057516176 GRCh37 Chromosome 3, 138664788: 138664788
50 FOXL2 NM_023067.3(FOXL2): c.777dupA (p.Arg260Thrfs) duplication Pathogenic rs1057516176 GRCh38 Chromosome 3, 138945946: 138945946

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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