ASGD2
MCID: ANT086
MIFTS: 48

Anterior Segment Dysgenesis 2 (ASGD2)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Anterior Segment Dysgenesis 2

MalaCards integrated aliases for Anterior Segment Dysgenesis 2:

Name: Anterior Segment Dysgenesis 2 57 12 72
Congenital Primary Aphakia 20 58 72 36 29 6
Aphakia, Congenital Primary 57 20 72 13
Cpa 57 20 72
Anterior Segment Dysgenesis 2, Multiple Subtypes 57 29
Aphakia 44 32
Asgd2 57 72
Cpak 57 72
Dysgenesis, Anterior Segment, Type 2 39
Aphakia, Congenital Primary; Cpak 57

Characteristics:

Orphanet epidemiological data:

58
congenital primary aphakia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

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

Miscellaneous:
variable features may be present


HPO:

31
anterior segment dysgenesis 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080607
OMIM® 57 610256
OMIM Phenotypic Series 57 PS107250
KEGG 36 H00676
MeSH 44 D001035
ICD10 32 H27.0
MESH via Orphanet 45 C537786
ICD10 via Orphanet 33 Q12.3
UMLS via Orphanet 71 C1853230
Orphanet 58 ORPHA83461
MedGen 41 C1853230

Summaries for Anterior Segment Dysgenesis 2

UniProtKB/Swiss-Prot : 72 Anterior segment dysgenesis 2: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. Some ASGD2 patients show congenital primary aphakia, a defect caused by eye development arrest around the 4th-5th week of gestation. This prevents the formation of any lens structure and leads to severe secondary ocular anomalies, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less severe ocular defects. ASGD2 inheritance is autosomal recessive.

MalaCards based summary : Anterior Segment Dysgenesis 2, also known as congenital primary aphakia, is related to aniseikonia and cataract. An important gene associated with Anterior Segment Dysgenesis 2 is FOXE3 (Forkhead Box E3). The drugs Dipivefrin and Adrenergic Agonists have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and heart, and related phenotypes are microphthalmia and congenital aphakia

Disease Ontology : 12 An anterior segment dysgenesis that has material basis in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33.

GARD : 20 Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Mutations in the FOXE3 gene have been associated with this condition. CPA is thought to be inherited in an autosomal recessive fashion. Click here to view a diagram of the eye.

OMIM® : 57 Anterior segment dysgeneses are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes, including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Some patients with ASGD2 have been reported with a congenital primary aphakia subtype. Congenital primary aphakia is a rare developmental disorder characterized by absence of the lens, the development of which is normally induced during the fourth to fifth week of human embryogenesis. This original failure leads, in turn, to complete aplasia of the anterior segment of the eye, which is the diagnostic histologic criterion for CPAK. In contrast, in secondary aphakia, lens induction occurs and the lens vesicle develops to some degree, but is progressively resorbed perinatally, resulting in less severe ocular defects (summary by Valleix et al., 2006). (610256) (Updated 20-May-2021)

KEGG : 36 Congenital primary aphakia (CPA) is a rare congenital eye disorder characterized by the absence of lens. Formation of lens and lens-induced anterior structures does not take place in CPA, resulting in complete aplasia of the anterior segment of the eye. CPA is caused by mutations in FOXE3, a lens-specific transcription factor.

Related Diseases for Anterior Segment Dysgenesis 2

Diseases in the Anterior Segment Dysgenesis family:

Anterior Segment Dysgenesis 1 Anterior Segment Dysgenesis 4
Anterior Segment Dysgenesis 7 Anterior Segment Dysgenesis 3
Anterior Segment Dysgenesis 5 Anterior Segment Dysgenesis 2
Anterior Segment Dysgenesis 6 Anterior Segment Dysgenesis 8

Diseases related to Anterior Segment Dysgenesis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 214)
# Related Disease Score Top Affiliating Genes
1 aniseikonia 30.5 PITX3 FOXE3
2 cataract 30.3 PITX3 LINC01389 FOXE3
3 aniridia 1 30.3 PITX3 FOXE3
4 amblyopia 30.3 PITX3 FOXE3
5 peters-plus syndrome 29.4 PITX3 FOXE3
6 coloboma of macula 29.4 PITX3 FOXE3
7 axenfeld-rieger syndrome 29.3 PITX3 FOXE3
8 axenfeld-rieger syndrome, type 1 29.3 PITX3 FOXE3
9 anterior segment dysgenesis 29.2 PITX3 LINC01389 FOXE3
10 anterior segment dysgenesis 1 29.2 PITX3 LINC01389 FOXE3
11 axenfeld-rieger syndrome, type 3 29.2 PITX3 LINC01389 FOXE3
12 congenital aphakia 11.2
13 retinal detachment 10.7
14 astigmatism 10.5
15 strabismus 10.5
16 mechanical strabismus 10.5
17 macular retinal edema 10.5
18 intraocular pressure quantitative trait locus 10.5
19 myopia 10.4
20 refractive error 10.4
21 suppression amblyopia 10.4
22 uveitis 10.4
23 keratoconus 10.3
24 corneal edema 10.3
25 iridocyclitis 10.2
26 pathologic nystagmus 10.2
27 marfan syndrome 10.2
28 ifap syndrome 2 10.2
29 alternating exotropia 10.2
30 exotropia 10.2
31 keratopathy 10.2
32 senile cataract 10.2
33 persistent hyperplastic primary vitreous, autosomal recessive 10.1
34 monocular esotropia 10.1
35 ocular hypertension 10.1
36 esotropia 10.1
37 heritable thoracic aortic disease 10.1
38 lung cancer susceptibility 3 10.1
39 aspergillosis 10.1
40 adenocarcinoma 10.1
41 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
42 anisometropia 10.1
43 rubella 10.1
44 kala-azar 1 10.1
45 acoustic neuroma 10.1
46 leishmaniasis 10.1
47 gas gangrene 10.1
48 isolated ectopia lentis 10.1
49 bullous keratopathy 10.1
50 irregular astigmatism 10.1

Graphical network of the top 20 diseases related to Anterior Segment Dysgenesis 2:



Diseases related to Anterior Segment Dysgenesis 2

Symptoms & Phenotypes for Anterior Segment Dysgenesis 2

Human phenotypes related to Anterior Segment Dysgenesis 2:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
2 congenital aphakia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007707
3 abnormality of vision 58 31 frequent (33%) Frequent (79-30%) HP:0000504
4 sclerocornea 58 31 frequent (33%) Frequent (79-30%) HP:0000647
5 retinal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0007973
6 nystagmus 31 HP:0000639
7 cataract 31 HP:0000518
8 microcornea 31 HP:0000482
9 aniridia 31 HP:0000526
10 peters anomaly 31 HP:0000659
11 coloboma 31 HP:0000589
12 aplasia/hypoplasia affecting the anterior segment of the eye 58 Very frequent (99-80%)
13 ocular hypertension 31 HP:0007906
14 posterior synechiae of the anterior chamber 31 HP:0011484
15 anterior segment of eye aplasia 31 HP:0007779

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
microphthalmia
sclerocornea
microcornea
peters anomaly
more

Clinical features from OMIM®:

610256 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Anterior Segment Dysgenesis 2 according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.83 FOXE3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.83 FOXE3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.83 PITX3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.83 PITX3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.83 FOXE3 PITX3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.83 FOXE3 PITX3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.83 FOXE3 PITX3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.83 PITX3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.83 PITX3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.83 PITX3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.83 PITX3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.83 PITX3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.83 PITX3

Drugs & Therapeutics for Anterior Segment Dysgenesis 2

Drugs for Anterior Segment Dysgenesis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dipivefrin Approved 52365-63-6 3105
2 Adrenergic Agonists
3 Adrenergic Agents
4 Neurotransmitter Agents
5 Anesthetics

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 Aphakia vs Pseudophakia - Randomized Clinical Trial in Children Under 2 Years Undergoing Bilateral Congenital Cataract Surgery Completed NCT01297153 Phase 4
2 Monocular Study to Evaluate the Safety and Effectiveness of the Akreos™ Toric IOL When Used to Correct Primary Aphakia With the Reduction of Astigmatism Completed NCT00825513 Phase 4
3 Evaluation of the Tecnis™ Multifocal and Crystalens™ Accommodating Intraocular Lenses Completed NCT01061281 Phase 4
4 A Prospective, Multi-Center Clinical Investigation to Evaluate the Safety & Effectiveness of the Bausch & Lomb AKREOS® TL (Model MI60) Intraocular Lens Completed NCT00838045 Phase 4
5 Co-Axial Micro-incision Cataract Surgery(C-MICS) Versus Standard Co-Axial Small Incision Cataract Surgery Using the Stellaris Enhancement System Completed NCT01261975 Phase 4
6 A Randomized Fellow-eye Controlled Clinical Trial to Compare the Visual and Refractive Outcomes Between Two Aspheric IOLs With Different Dioptric Increments and Manufacturing Tolerances in Patients Undergoing Bilateral Cataract Surgery Terminated NCT01249144 Phase 4
7 Prospective Clinical Study to Evaluate Usability of Mesotest II for Assessment of Night Driving Capacity of Pseudophakic Patients Implanted With Monofocal IOL *AT.Smart 46LC Withdrawn NCT00876278 Phase 4
8 A Prospective Multicenter Clinical Study to Evaluate the Safety and Effectiveness of a Bausch + Lomb One-Piece Hydrophobic Acrylic Intraocular Lens in Subjects Undergoing Cataract Extraction Completed NCT01230060 Phase 3
9 Artisan Aphakia Lens for the Correction of Aphakia in Children Recruiting NCT01547442 Phase 3
10 Clinical Evaluation of the Lenstec Softec HP1 Intraocular Lens Unknown status NCT03900260
11 Gore-Tex Suture and BunnyLens Scleral Fixation - Historical Retrospective Trial Unknown status NCT03437434
12 Phase 1 Evaluate Capsular Apposition to Intraocular Lens in Subjects With High Myopia by Ultra-long Scan Depth Optical Coherence Tomography; Phase 2 Evaluate Capsular Apposition to Different Types of Intraocular Lens in Subjects Unknown status NCT01605812
13 Clinical Outcomes of Implantationof Black Diaphragm Intraocular Lens in Complete Aniridia and Aphakia Due to Posttraumatic Eye Rupture Completed NCT03581864
14 A Prospective, Multi-center, Single-phase, Non-randomized, Open-label Study to Assess the Safety and Efficacy of the HMY Model YA-60BB Intraocular Lens (IOL) for the Correction of Aphakia Following Phacoemulsification Cataract Extraction Completed NCT00625313
15 Visual Quality Following Aspheric and Monovision Lens Implantation - a Comparative Clinical Study Completed NCT01544777
16 Prospective Multicenter Clinical Trial With the PRECIZON Presbyopic Multifocal Intraocular Lens Completed NCT02409771
17 Retrospective, Observational, Monocenter And Single-Arm Trial Following Subjects Bilaterally Implanted With Mini Well Ready For 2 Years After The Second Eye Implant Completed NCT04801992
18 A Prospective, Multi-Center, Feasibility Trial of the ClarVista HARMONI™ Modular Intraocular Lens System for the Treatment of Aphakia Following Cataract Surgery Completed NCT02521766
19 A Multi-center, Prospective Clinical Trial to Evaluate the Safety and Effectiveness of a Posterior Chamber Intraocular Lens for Correction of Aphakia Following Cataract Removal Completed NCT03451786
20 A Prospective, Multicenter Study to Evaluate the Safety and Performance of the Exchangeable ClarVista HARMONI Modular Toric Intraocular Lens System for the Treatment of Pre-Existing Corneal Astigmatism and Aphakia Following Cataract Surgery Completed NCT03050697
21 A Prospective, Multicenter Study to Evaluate the Safety and Performance of the Exchangeable ClarVista HARMONI Modular Toric Intraocular Lens System for the Treatment of Pre-Existing Corneal Astigmatism and Aphakia Following Cataract Surgery Completed NCT03054649
22 Intraocular Architecture of Secondary Implanted Anterior Chamber Iris-Fixated Lenses in Aphakic Eyes Evaluated With Anterior Segment Optical Coherence Tomography Completed NCT00773266
23 Clinical Evaluation of the FluidVision™ Accommodating Intraocular Lens With an Improved Injector System Completed NCT02418871
24 Comparison of the HSO iSert 251 Posterior Chamber Aspheric Aphakic Intraocular Lens to Historical / Literature Controls. Completed NCT01292629
25 Comparison of Aspheric Toric & Non-toric Aphakic Intraocular Lenses Completed NCT01268540
26 A Prospective, Randomized, Controlled, Multi-center Clinical Study to Evaluate the Safety and Effectiveness of the RxSight Light Adjustable Lens (LAL) in Subjects With Prior Corneal Refractive Surgery Completed NCT03660865
27 Clinical Evaluation of the FluidVision™ Accommodating Intraocular Lens Completed NCT02049567
28 Clinical Observation of Transscleral Suture Fixation of Posterior Chamber Intraocular Lens in Eyes With Inadequate Capsule Support Completed NCT03817151
29 Evaluation of Visual and Refractive Outcomes of The ClarVista HARMONI™ Modular Intraocular Lens System Completed NCT03681886
30 Neuartige Kontaktlose Biometrische Messungen Completed NCT00494390
31 Accuracy of Holladay 2 Formula Using IOLMaster Parameters in the Absence of Lens Thickness Completed NCT01846078
32 Artisan Aphakia Lens for the Correction of Aphakia in Adults Recruiting NCT01547429
33 Post Approval Study of the AcrySof® IQ ReSTOR® Toric IOLs Recruiting NCT03733730
34 Post-Market Follow-up Clinical Trial to Investigate Safety and Efficacy of a Trifocal Intraocular Lens (IOL) POD L GF In Comparison With a Multifocal (TECNIS Symfony® Extended Range of Vision IOL) and a Monofocal (AcrySof® IQ Monofocal IOL) Recruiting NCT04005651
35 Clinical Investigation of the Visual Outcomes and Safety of AcrySof® IQ PanOptix® Toric Trifocal IOLs in an Asian Population Recruiting NCT04528069
36 Infant Aphakia Treatment Study (IATS) Active, not recruiting NCT00212134
37 A Prospective, Randomized, Controlled, Multi-Center Clinical Investigation of the AcrySof IQ Vivity Extended Vision IOL vs. TECNIS Symfony and AT LARA Extended Depth of Focus IOLs Active, not recruiting NCT04098367
38 A Clinical Trial to Evaluate the Safety and Effectiveness of Model SC9 Silicone IOL for the Visual Correction of Aphakia Secondary to the Removal of a Cataractous Lens in Adult Patients With or Without Presbyopia Active, not recruiting NCT03179397
39 Real-World Study of AcrySof™ IQ Vivity Extended Vision Intraocular Lenses (IOLs) Not yet recruiting NCT04800016
40 Post-Market Clinical Study of the AcrySof® IQ PanOptix® Presbyopia Correcting Intraocular Lens in a Chinese Population Not yet recruiting NCT04755231
41 Evaluating Safety and Efficacy of a Modified Technique of Scleral Fixation Intraocular Lens Implantation Not yet recruiting NCT04516889
42 Clinical Investigational Plan of the Rayner M-flex Multifocal Intraocular Lens (IOL) With Different Near Additions Terminated NCT00960700

Search NIH Clinical Center for Anterior Segment Dysgenesis 2

Cochrane evidence based reviews: aphakia

Genetic Tests for Anterior Segment Dysgenesis 2

Genetic tests related to Anterior Segment Dysgenesis 2:

# Genetic test Affiliating Genes
1 Congenital Primary Aphakia 29
2 Anterior Segment Dysgenesis 2, Multiple Subtypes 29

Anatomical Context for Anterior Segment Dysgenesis 2

MalaCards organs/tissues related to Anterior Segment Dysgenesis 2:

40
Eye, Retina, Heart, Myeloid, Brain, Spinal Cord, Liver

Publications for Anterior Segment Dysgenesis 2

Articles related to Anterior Segment Dysgenesis 2:

(show all 26)
# Title Authors PMID Year
1
A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family. 61 6 57
20361012 2010
2
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. 61 57 6
16826526 2006
3
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. 6 57
21150893 2011
4
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. 57 6
11159941 2001
5
Congenital cataract with microcornea and Peters' anomaly as expressions of one autosomal dominant gene. 57 6
3550563 1986
6
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. 61 6
19708017 2009
7
Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature. 6
29878917 2018
8
FOXE3 mutations: genotype-phenotype correlations. 6
29136273 2018
9
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. 57
27839872 2016
10
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. 57
27218149 2016
11
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 6
24033328 2014
12
FOXE3 plays a significant role in autosomal recessive microphthalmia. 6
20140963 2010
13
Anterior segment dysgenesis and the developmental glaucomas are complex traits. 57
12015278 2002
14
Anterior segment alterations in congenital primary aphakia-a clinicopathologic report of five cases. 61
32709777 2020
15
CUGC for congenital primary aphakia. 61
29769628 2018
16
Keratoplasty in congenital primary aphakia. 61
29380803 2018
17
Lack of FOXE3 coding mutation in a case of congenital aphakia. 61
28805541 2018
18
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. 61
26130484 2016
19
Ultrasound prenatal diagnosis of congenital primary aphakia: case report. 61
26918094 2015
20
Homeodomain protein Pitx3 maintains the mitotic activity of lens epithelial cells. 54
19007884 2009
21
Foxe view of lens development and disease. 61
17344231 2007
22
Striatal neuroadaptation and rescue of locomotor deficit by L-dopa in aphakia mice, a model of Parkinson's disease. 54
16269007 2006
23
Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice. 54
10861284 2000
24
Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19. 54
9328475 1997
25
[Congenital primary aphakia from the genetic point of view]. 61
5356001 1969
26
Congenital primary aphakia with retinal dysplasia and heart defect. 61
5733903 1968

Variations for Anterior Segment Dysgenesis 2

ClinVar genetic disease variations for Anterior Segment Dysgenesis 2:

6 (show top 50) (show all 73)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.942dup (p.Leu315fs) Duplication Pathogenic 8447 rs1570406175 GRCh37: 1:47882925-47882926
GRCh38: 1:47417253-47417254
2 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter) SNV Pathogenic 8448 rs80358194 GRCh37: 1:47882707-47882707
GRCh38: 1:47417035-47417035
3 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.959G>T (p.Ter320Leu) SNV Pathogenic 30157 rs387906793 GRCh37: 1:47882946-47882946
GRCh38: 1:47417274-47417274
4 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) SNV Likely pathogenic 427852 rs377669670 GRCh37: 1:47882219-47882219
GRCh38: 1:47416547-47416547
5 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) SNV Likely pathogenic 427853 rs755377651 GRCh37: 1:47882297-47882297
GRCh38: 1:47416625-47416625
6 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.244A>G (p.Met82Val) SNV Likely pathogenic 667373 rs746531116 GRCh37: 1:47882231-47882231
GRCh38: 1:47416559-47416559
7 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.181del (p.Arg61fs) Deletion Likely pathogenic 839342 GRCh37: 1:47882168-47882168
GRCh38: 1:47416496-47416496
8 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.289A>G (p.Ile97Val) SNV Likely pathogenic 983475 GRCh37: 1:47882276-47882276
GRCh38: 1:47416604-47416604
9 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.178G>T (p.Gly60Trp) SNV Uncertain significance 998594 GRCh37: 1:47882165-47882165
GRCh38: 1:47416493-47416493
10 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.166G>A (p.Ala56Thr) SNV Uncertain significance 1004513 GRCh37: 1:47882153-47882153
GRCh38: 1:47416481-47416481
11 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.854C>T (p.Pro285Leu) SNV Uncertain significance 1007221 GRCh37: 1:47882841-47882841
GRCh38: 1:47417169-47417169
12 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.19A>G (p.Met7Val) SNV Uncertain significance 1007471 GRCh37: 1:47882006-47882006
GRCh38: 1:47416334-47416334
13 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.672C>G (p.Asn224Lys) SNV Uncertain significance 1009484 GRCh37: 1:47882659-47882659
GRCh38: 1:47416987-47416987
14 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.191G>T (p.Arg64Leu) SNV Uncertain significance 1009731 GRCh37: 1:47882178-47882178
GRCh38: 1:47416506-47416506
15 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.851A>G (p.Glu284Gly) SNV Uncertain significance 1014988 GRCh37: 1:47882838-47882838
GRCh38: 1:47417166-47417166
16 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.701C>T (p.Ala234Val) SNV Uncertain significance 1017109 GRCh37: 1:47882688-47882688
GRCh38: 1:47417016-47417016
17 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.97G>A (p.Ala33Thr) SNV Uncertain significance 1039597 GRCh37: 1:47882084-47882084
GRCh38: 1:47416412-47416412
18 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.413A>G (p.Asn138Ser) SNV Uncertain significance 1044928 GRCh37: 1:47882400-47882400
GRCh38: 1:47416728-47416728
19 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.283G>T (p.Ala95Ser) SNV Uncertain significance 1057924 GRCh37: 1:47882270-47882270
GRCh38: 1:47416598-47416598
20 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.663C>G (p.Ser221Arg) SNV Uncertain significance 1060316 GRCh37: 1:47882650-47882650
GRCh38: 1:47416978-47416978
21 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.358C>T (p.Arg120Cys) SNV Uncertain significance 931025 GRCh37: 1:47882345-47882345
GRCh38: 1:47416673-47416673
22 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.291C>G (p.Ile97Met) SNV Uncertain significance 935371 GRCh37: 1:47882278-47882278
GRCh38: 1:47416606-47416606
23 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.415C>G (p.Pro139Ala) SNV Uncertain significance 935933 GRCh37: 1:47882402-47882402
GRCh38: 1:47416730-47416730
24 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.204G>C (p.Gln68His) SNV Uncertain significance 938104 GRCh37: 1:47882191-47882191
GRCh38: 1:47416519-47416519
25 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.91C>T (p.Pro31Ser) SNV Uncertain significance 939105 GRCh37: 1:47882078-47882078
GRCh38: 1:47416406-47416406
26 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.619G>A (p.Gly207Arg) SNV Uncertain significance 939305 GRCh37: 1:47882606-47882606
GRCh38: 1:47416934-47416934
27 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.709C>T (p.Pro237Ser) SNV Uncertain significance 940300 GRCh37: 1:47882696-47882696
GRCh38: 1:47417024-47417024
28 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.338G>C (p.Arg113Pro) SNV Uncertain significance 941853 GRCh37: 1:47882325-47882325
GRCh38: 1:47416653-47416653
29 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3]) Microsatellite Uncertain significance 945230 GRCh37: 1:47882545-47882546
GRCh38: 1:47416873-47416874
30 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.145G>C (p.Gly49Arg) SNV Uncertain significance 952102 GRCh37: 1:47882132-47882132
GRCh38: 1:47416460-47416460
31 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.542G>A (p.Gly181Glu) SNV Uncertain significance 956742 GRCh37: 1:47882529-47882529
GRCh38: 1:47416857-47416857
32 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.812T>C (p.Leu271Pro) SNV Uncertain significance 958656 GRCh37: 1:47882799-47882799
GRCh38: 1:47417127-47417127
33 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.269G>T (p.Arg90Leu) SNV Uncertain significance 960001 GRCh37: 1:47882256-47882256
GRCh38: 1:47416584-47416584
34 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.266G>A (p.Gly89Asp) SNV Uncertain significance 960209 GRCh37: 1:47882253-47882253
GRCh38: 1:47416581-47416581
35 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.566C>T (p.Ala189Val) SNV Uncertain significance 970390 GRCh37: 1:47882553-47882553
GRCh38: 1:47416881-47416881
36 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.135_155del (p.Ala46_Ala52del) Deletion Uncertain significance 834580 GRCh37: 1:47882114-47882134
GRCh38: 1:47416442-47416462
37 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.838C>T (p.Pro280Ser) SNV Uncertain significance 836896 GRCh37: 1:47882825-47882825
GRCh38: 1:47417153-47417153
38 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.287C>G (p.Ala96Gly) SNV Uncertain significance 837571 GRCh37: 1:47882274-47882274
GRCh38: 1:47416602-47416602
39 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.736G>A (p.Ala246Thr) SNV Uncertain significance 838131 GRCh37: 1:47882723-47882723
GRCh38: 1:47417051-47417051
40 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.487C>T (p.Arg163Cys) SNV Uncertain significance 844460 GRCh37: 1:47882474-47882474
GRCh38: 1:47416802-47416802
41 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser) SNV Uncertain significance 848730 GRCh37: 1:47882690-47882690
GRCh38: 1:47417018-47417018
42 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) SNV Uncertain significance 427852 rs377669670 GRCh37: 1:47882219-47882219
GRCh38: 1:47416547-47416547
43 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser) SNV Uncertain significance 617853 rs745571457 GRCh37: 1:47882321-47882321
GRCh38: 1:47416649-47416649
44 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro) SNV Uncertain significance 856708 GRCh37: 1:47882039-47882039
GRCh38: 1:47416367-47416367
45 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.925C>A (p.Pro309Thr) SNV Uncertain significance 426214 rs1085307504 GRCh37: 1:47882912-47882912
GRCh38: 1:47417240-47417240
46 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.956T>A (p.Leu319Gln) SNV Uncertain significance 861248 GRCh37: 1:47882943-47882943
GRCh38: 1:47417271-47417271
47 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.61G>A (p.Ala21Thr) SNV Uncertain significance 861717 GRCh37: 1:47882048-47882048
GRCh38: 1:47416376-47416376
48 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.608C>A (p.Pro203Gln) SNV Uncertain significance 861732 GRCh37: 1:47882595-47882595
GRCh38: 1:47416923-47416923
49 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.625G>C (p.Gly209Arg) SNV Uncertain significance 862439 GRCh37: 1:47882612-47882612
GRCh38: 1:47416940-47416940
50 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.837_843CCCGCTG[3] (p.Glu284delinsAlaArgTer) Microsatellite Uncertain significance 639324 rs1476879051 GRCh37: 1:47882822-47882823
GRCh38: 1:47417150-47417151

UniProtKB/Swiss-Prot genetic disease variations for Anterior Segment Dysgenesis 2:

72
# Symbol AA change Variation ID SNP ID
1 FOXE3 p.Arg90Leu VAR_062584 rs371048362
2 FOXE3 p.Arg120Gly VAR_072783

Expression for Anterior Segment Dysgenesis 2

Search GEO for disease gene expression data for Anterior Segment Dysgenesis 2.

Pathways for Anterior Segment Dysgenesis 2

GO Terms for Anterior Segment Dysgenesis 2

Biological processes related to Anterior Segment Dysgenesis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 8.96 PITX3 FOXE3
2 lens development in camera-type eye GO:0002088 8.62 PITX3 FOXE3

Sources for Anterior Segment Dysgenesis 2

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
Content
Loading form....