ASMD
MCID: ANT088
MIFTS: 54

Anterior Segment Dysgenesis (ASMD)

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

Aliases & Classifications for Anterior Segment Dysgenesis

MalaCards integrated aliases for Anterior Segment Dysgenesis:

Name: Anterior Segment Dysgenesis 12 20 58 36 29 6 15
Anterior Segment Developmental Anomaly 12 20 58
Anterior Segment Mesenchymal Dysgenesis 20 70
Familial Ocular Anterior Segment Mesenchymal Dysgenesis 20
Corneal Opacification and Other Ocular Anomalies 12
Sclerocornea with Other Ocular Anomalies 12
Anterior Segment Ocular Dysgenesis 20
Axenfeld-Rieger Syndrome, Type 3 70
Foxe3-Related Ocular Disorder 20
Dysgenesis, Anterior Segment 39
Irido-Corneal Dysgenesis 70
Asmd 20
Asod 20

Characteristics:

Orphanet epidemiological data:

58
anterior segment developmental anomaly
Inheritance: Autosomal dominant;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Anterior Segment Dysgenesis

GARD : 20 Anterior segment dysgenesis (ASD) refers to a spectrum of disorders that affect the development of the front of the eye (the anterior segment), which includes the cornea, iris, ciliary body, and lens. The specific eye abnormalities (alone or in combination) vary depending on the subtype of ASD and genetic cause, and some types may also be associated with neurological abnormalities. Glaucoma develops in approximately 60% of people with ASD, during infancy or much later. Specific eye signs and symptoms of ASD may include: Underdevelopment of the iris (iris hypoplasia). An enlarged or reduced cornea diameter. Growth of new blood vessels (vascularization) and opacity in the cornea. Posterior embryotoxon (a thickened and displaced Schwalbe's line). Corectopia (displacement of the pupil). Polycoria (more than one pupillary opening). An abnormal iridocorneal angle (the angle formed by the iris and cornea). Ectopia lentis (displacement of the lens). Aphakia (absent lens). Cataracts. Anterior synechiae (when the iris adheres to the cornea). Posterior keratoconus (thinning of the cornea). Individual disorders within the ASD spectrum include Axenfeld-Rieger syndrome (which includes disorders formerly known as Axenfeld anomaly, Axenfeld syndrome, Rieger anomaly, Rieger syndrome, and iridogoniodysgenesis) and Peters anomaly. ASD may be caused by mutations in any of several genes and inheritance can be autosomal dominant or autosomal recessive, depending on the responsible gene. Treatment of signs and symptoms depends on the specific features in each person with ASD and may involve medications, eye surgery, or corrective lenses for poor vision.

MalaCards based summary : Anterior Segment Dysgenesis, also known as anterior segment developmental anomaly, is related to anterior segment dysgenesis 2 and anterior segment dysgenesis 5. An important gene associated with Anterior Segment Dysgenesis is FOXE3 (Forkhead Box E3), and among its related pathways/superpathways is Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include anterior segment of the eye, eye and brain, and related phenotypes are visual impairment and aplasia/hypoplasia of the iris

Disease Ontology : 12 An eye disease that is characterized by 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 and is located in the anterior segment of the eye.

KEGG : 36 Anterior segment dysgenesis (ASGD) is a range of developmental defects in structures at the front of the eye. These defects are thought to result from abnormal migration or differentiation of the neural-crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Human ASGD phenotypes are genetically heterogeneous resulting from mutations in different transcription factor genes and a cytochrome enzyme gene. ASGD is sometimes divided into subtypes including aniridia, Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon.

Related Diseases for Anterior Segment Dysgenesis

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 169)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 2 33.6 PITX3 LINC01389 FOXE3
2 anterior segment dysgenesis 5 33.4 PAX6 CYP1B1
3 anterior segment dysgenesis 1 33.2 PXDN PITX3 PITX2 PAX6 LINC01389 ITPR1
4 microphthalmia 32.4 PXDN PITX3 PITX2 PAX6 HMX1 GJA8
5 peters-plus syndrome 32.4 PXDN PITX3 PITX2 PAX6 FOXE3 FOXC1
6 intraocular pressure quantitative trait locus 31.5 PITX2 PAX6 FOXC1 CYP1B1
7 axenfeld-rieger syndrome 31.3 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
8 coloboma of macula 31.1 PITX3 PITX2 PAX6 MAF HMX1 FOXE3
9 sclerocornea 31.1 PITX2 PAX6 GJA8 FOXE3
10 primary congenital glaucoma 31.1 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
11 aniridia 1 31.1 SLC38A8 PITX3 PITX2 PAX6 MAF ITPR1
12 early-onset glaucoma 31.1 PITX2 CYP1B1
13 cataract 31.1 PXDN PITX3 PITX2 PAX6 MAF LINC01389
14 axenfeld-rieger syndrome, type 1 30.9 PITX3 PITX2 PAX6 FOXE3 FOXC1
15 corneal disease 30.9 VSX1 PITX2 PAX6 FOXE3 FOXC1
16 early-onset non-syndromic cataract 30.8 PITX3 MAF LINC01389 GBF1 FOXE3
17 congenital aphakia 30.7 PAX6 FOXE3
18 persistent hyperplastic primary vitreous 30.7 PITX2 PAX6 FOXE3 FOXC1
19 colobomatous microphthalmia 30.7 PITX3 PITX2 PAX6
20 axenfeld-rieger syndrome, type 3 30.6 PXDN PITX3 PITX2 PAX6 MAF LINC01389
21 ayme-gripp syndrome 30.6 PITX3 MAF
22 glaucoma, primary open angle 30.6 PITX2 PAX6 FOXC1 CYP1B1 ADAMTS17
23 isolated aniridia 30.6 PAX6 FOXC1
24 juvenile glaucoma 30.6 PXDN PITX3 PITX2 PAX6 FOXE3 FOXC1
25 cataract 11, multiple types 30.6 PITX3 GBF1
26 glaucoma 3, primary congenital, a 30.5 PXDN PITX2 PAX6 FOXE3 FOXC1 CYP1B1
27 eye disease 30.5 PITX2 PAX6 GJA8 FOXC1 CYP1B1 ADAMTS17
28 anterior segment dysgenesis 3 11.9
29 anterior segment dysgenesis 6 11.9
30 anterior segment dysgenesis 7 11.9
31 foveal hypoplasia 2 11.9
32 anterior segment dysgenesis 4 11.9
33 anterior segment dysgenesis 8 11.9
34 craniofacial anomalies and anterior segment dysgenesis syndrome 11.8
35 oculoauricular syndrome 11.6
36 anterior segment developmental anomaly of genetic origin 11.4
37 anterior segment developmental anomaly without extraocular manifestations 11.4
38 microphthalmia, isolated, with coloboma 9 11.3
39 brachydactyly, coloboma, and anterior segment dysgenesis 11.3
40 edict syndrome 11.2
41 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.2
42 niemann-pick disease, type a 11.0
43 niemann-pick disease, type b 11.0
44 developmental defect of the eye 10.5 SLC38A8 PAX6
45 isolated foveal hypoplasia 10.5 SLC38A8 PAX6
46 axenfeld-rieger syndrome, type 2 10.5 PITX2 FOXC1
47 phacolytic glaucoma 10.5 PXDN FOXE3 COL4A1
48 acquired color blindness 10.5 PITX2 PAX6 FOXC1
49 glaucoma-related pigment dispersion syndrome 10.5 PITX2 FOXC1 CYP1B1
50 aortic aneurysm, familial thoracic 11 10.5 LINC01389 FOXE3

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



Diseases related to Anterior Segment Dysgenesis

Symptoms & Phenotypes for Anterior Segment Dysgenesis

Human phenotypes related to Anterior Segment Dysgenesis:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 hallmark (90%) HP:0000505
2 aplasia/hypoplasia of the iris 31 hallmark (90%) HP:0008053
3 ptosis 31 frequent (33%) HP:0000508
4 photophobia 31 frequent (33%) HP:0000613
5 opacification of the corneal stroma 31 frequent (33%) HP:0007759
6 strabismus 31 frequent (33%) HP:0000486
7 ectopia lentis 31 frequent (33%) HP:0001083
8 glaucoma 31 frequent (33%) HP:0000501
9 corneal neovascularization 31 frequent (33%) HP:0011496
10 keratoconjunctivitis sicca 31 frequent (33%) HP:0001097
11 corneal erosion 31 frequent (33%) HP:0200020
12 macular hypoplasia 31 frequent (33%) HP:0001104
13 short palpebral fissure 31 frequent (33%) HP:0012745
14 optic nerve hypoplasia 31 frequent (33%) HP:0000609
15 macular hypopigmentation 31 frequent (33%) HP:0007988
16 intellectual disability 31 occasional (7.5%) HP:0001249
17 nystagmus 31 occasional (7.5%) HP:0000639
18 global developmental delay 31 occasional (7.5%) HP:0001263
19 abnormality of the dentition 31 occasional (7.5%) HP:0000164
20 umbilical hernia 31 occasional (7.5%) HP:0001537
21 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
22 abnormality of the genital system 31 occasional (7.5%) HP:0000078
23 microcornea 31 occasional (7.5%) HP:0000482
24 abnormality of the sense of smell 31 occasional (7.5%) HP:0004408
25 aplasia/hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0007370
26 optic nerve coloboma 31 occasional (7.5%) HP:0000588
27 keratoconus 31 occasional (7.5%) HP:0000563
28 iris hypopigmentation 31 occasional (7.5%) HP:0007730
29 abnormality of the hypothalamus-pituitary axis 31 occasional (7.5%) HP:0000864

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.9 COL4A1 FOXC1 HMX1 ITPR1 LGR4 MAF
2 vision/eye MP:0005391 9.44 COL4A1 CYP1B1 FOXC1 GJA8 HMX1 ITPR1
3 pigmentation MP:0001186 9.35 FOXC1 PAX6 PITX2 PITX3 PXDN

Drugs & Therapeutics for Anterior Segment Dysgenesis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label, Multicenter, Ascending Dose Study of the Tolerability and Safety of Recombinant Human Acid Sphingomyelinase (rhASM) in Patients With Acid Sphingomyelinase Deficiency (ASMD) Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
2 A Phase I, Single-Center, Single Dose, Dose Escalation Study of Recombinant Human Acid Sphingomyelinase (rhASM) in Adults With Acid Sphingomyelinase Deficiency (ASMD) Terminated NCT00410566 Phase 1 rhASM;rhASM;rhASM;rhASM;rhASM
3 A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD) Recruiting NCT04106544

Search NIH Clinical Center for Anterior Segment Dysgenesis

Genetic Tests for Anterior Segment Dysgenesis

Genetic tests related to Anterior Segment Dysgenesis:

# Genetic test Affiliating Genes
1 Anterior Segment Dysgenesis 29

Anatomical Context for Anterior Segment Dysgenesis

The Foundational Model of Anatomy Ontology organs/tissues related to Anterior Segment Dysgenesis:

19
Anterior Segment Of The Eye

MalaCards organs/tissues related to Anterior Segment Dysgenesis:

40
Eye, Brain, Lung, Skin, Hypothalamus, Pituitary, Retina

Publications for Anterior Segment Dysgenesis

Articles related to Anterior Segment Dysgenesis:

(show top 50) (show all 292)
# Title Authors PMID Year
1
FOXE3 plays a significant role in autosomal recessive microphthalmia. 6 61
20140963 2010
2
Revealing hidden genetic diagnoses in the ocular anterior segment disorders. 6
32499604 2020
3
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 6
24033328 2014
4
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. 6
16826526 2006
5
Identification of a New Genetic Mutation Associated With Peters Anomaly. 61
33284162 2021
6
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. 61
33314030 2021
7
Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome. 61
33692098 2021
8
Progressive Loss of Retinal Ganglion Cells in Activating Protein-2β Neural Crest Cell Knockout Mice. 61
33689532 2021
9
Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3. 61
33620284 2021
10
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review. 61
33430815 2021
11
NOTCH Signaling Controls Ciliary Body Morphogenesis and Secretion by Directly Regulating Nectin Protein Expression. 61
33440163 2021
12
Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia. 61
33498813 2021
13
FOXC1 variant in a family with anterior segment dysgenesis and normal-tension glaucoma. 61
32905845 2020
14
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization. 61
32744312 2020
15
Normal and abnormal foveal development. 61
33148537 2020
16
Management of strabismus related to infantile glaucoma: Case series. 61
33268281 2020
17
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix. 61
32274568 2020
18
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). 61
32475988 2020
19
Histopathological examination of congenital corneal staphyloma and prognosis after penetrating keratoplasty. 61
33019387 2020
20
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom. 61
32830442 2020
21
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis. 61
32791987 2020
22
A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy. 61
32429730 2020
23
Evaluation of the genetic association between early-onset primary angle-closure glaucoma and retinitis pigmentosa. 61
32562694 2020
24
Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation. 61
32741584 2020
25
Ocular and brain imaging findings in Peters' anomaly: A case report and literature review. 61
32382368 2020
26
Ophthalmic manifestations of congenital protein C deficiency: a case report and mini review. 61
32660449 2020
27
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma. 61
32085876 2020
28
CPAMD8, a New Gene for Anterior Segment Dysgenesis and Childhood Glaucoma. 61
32444017 2020
29
Axenfeld-Rieger Anomaly and Neuropsychiatric Problems-More than Meets the Eye. 61
32045938 2020
30
Pax6 organizes the anterior eye segment by guiding two distinct neural crest waves. 61
32555736 2020
31
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis. 61
32015378 2020
32
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders. 61
31848469 2020
33
The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus. 61
32032626 2020
34
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida. 61
32224865 2020
35
Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism? 61
32016663 2020
36
Genetic testing for inherited ocular conditions in a developing country. 61
32141364 2020
37
Anterior Segment Dysgenesis With Accessory Iris Membranes in an Infant With Otopalatodigital Spectrum Disorder and Mutation in the FLNA Gene. 61
31978233 2020
38
Closing the Gap: Mechanisms of Epithelial Fusion During Optic Fissure Closure. 61
33505973 2020
39
Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss. 61
31836490 2020
40
Spatiotemporal Characterization of Anterior Segment Mesenchyme Heterogeneity During Zebrafish Ocular Anterior Segment Development. 61
32528955 2020
41
Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases. 61
32976546 2020
42
Novel Mutations in COL6A3 That Associated With Peters' Anomaly Caused Abnormal Intracellular Protein Retention and Decreased Cellular Resistance to Oxidative Stress. 61
33304895 2020
43
Peters Plus syndrome: a recognizable clinical entity. 61
32253880 2020
44
Biallelic Deletion of Pxdn in Mice Leads to Anophthalmia and Severe Eye Malformation. 61
31817535 2019
45
Primary cilia deficiency in neural crest cells models anterior segment dysgenesis in mouse. 61
31845891 2019
46
Lens-specific conditional knockout of Msx2 in mice leads to ocular anterior segment dysgenesis via activation of a calcium signaling pathway. 61
30683901 2019
47
Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining. 61
31795264 2019
48
Anterior segment dysgenesis and secondary glaucoma in Goldenhar syndrome. 61
31546553 2019
49
Childhood Glaucoma: Long-Term Outcomes of Glaucoma Drainage Device Implantation Within the First 2 Years of Life. 61
31394565 2019
50
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes. 61
30225942 2019

Variations for Anterior Segment Dysgenesis

ClinVar genetic disease variations for Anterior Segment Dysgenesis:

6 (show top 50) (show all 81)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAMTS17 NM_139057.4(ADAMTS17):c.526C>T (p.Arg176Ter) SNV Pathogenic 932287 GRCh37: 15:100871184-100871184
GRCh38: 15:100330979-100330979
2 PITX2 NM_000325.6(PITX2):c.409C>T (p.Arg137Trp) SNV Pathogenic 8089 rs121909248 GRCh37: 4:111542322-111542322
GRCh38: 4:110621166-110621166
3 PXDN NM_012293.3(PXDN):c.4085_4086del (p.Gln1362fs) Deletion Pathogenic 932291 GRCh37: 2:1642738-1642739
GRCh38: 2:1638966-1638967
4 FOXC1 NM_001453.3(FOXC1):c.1399C>T (p.Gln467Ter) SNV Pathogenic 932292 GRCh37: 6:1612079-1612079
GRCh38: 6:1611844-1611844
5 FOXC1 NM_001453.3(FOXC1):c.478_482dup (p.Met161fs) Duplication Pathogenic 932294 GRCh37: 6:1611157-1611158
GRCh38: 6:1610922-1610923
6 PITX2 NM_000325.6(PITX2):c.500dup (p.Asn168fs) Duplication Pathogenic 932289 GRCh37: 4:111539755-111539756
GRCh38: 4:110618599-110618600
7 CPAMD8 NM_015692.5(CPAMD8):c.4408-1G>A SNV Pathogenic 375311 rs369858688 GRCh37: 19:17014434-17014434
GRCh38: 19:16903624-16903624
8 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter) SNV Pathogenic 7737 rs72549387 GRCh37: 2:38302361-38302361
GRCh38: 2:38075218-38075218
9 CYP1B1 NM_000104.3(CYP1B1):c.1331G>A (p.Arg444Gln) SNV Pathogenic 845455 GRCh37: 2:38298166-38298166
GRCh38: 2:38071023-38071023
10 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter) SNV Pathogenic 8448 rs80358194 GRCh37: 1:47882707-47882707
GRCh38: 1:47417035-47417035
11 PITX2 NM_000325.6(PITX2):c.344G>A (p.Arg115His) SNV Pathogenic 8094 rs104893862 GRCh37: 4:111542387-111542387
GRCh38: 4:110621231-110621231
12 CYP1B1 NM_000104.3(CYP1B1):c.1200_1209dup (p.Thr404fs) Duplication Pathogenic 68466 rs587778873 GRCh37: 2:38298287-38298288
GRCh38: 2:38071144-38071145
13 PAX6 NM_000280.4(PAX6):c.152G>T (p.Gly51Val) SNV Likely pathogenic 68469 rs587778874 GRCh37: 11:31823314-31823314
GRCh38: 11:31801766-31801766
14 CPAMD8 NM_015692.5(CPAMD8):c.3008G>T (p.Gly1003Val) SNV Likely pathogenic 932293 GRCh37: 19:17039888-17039888
GRCh38: 19:16929078-16929078
15 GJA8 NM_005267.5(GJA8):c.280G>C (p.Gly94Arg) SNV Likely pathogenic 932290 GRCh37: 1:147380362-147380362
GRCh38: 1:147908235-147908235
16 ITPR1 NM_002222.6(ITPR1):c.7471G>A (p.Gly2491Arg) SNV Likely pathogenic 235922 rs752281590 GRCh37: 3:4856205-4856205
GRCh38: 3:4814521-4814521
17 COL4A1 NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) SNV Likely pathogenic 235568 rs878853070 GRCh37: 13:110861756-110861756
GRCh38: 13:110209409-110209409
18 FOXC1 NM_001453.3(FOXC1):c.504_506GCG[6] (p.Arg173dup) Microsatellite Likely pathogenic 570813 rs1183655796 GRCh37: 6:1611183-1611184
GRCh38: 6:1610948-1610949
19 FOXC1 NM_001453.3(FOXC1):c.518G>A (p.Arg173His) SNV Likely pathogenic 932288 GRCh37: 6:1611198-1611198
GRCh38: 6:1610963-1610963
20 GJA8 NM_005267.5(GJA8):c.281G>A (p.Gly94Glu) SNV Likely pathogenic 932286 GRCh37: 1:147380363-147380363
GRCh38: 1:147908236-147908236
21 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.181del (p.Arg61fs) Deletion Likely pathogenic 839342 GRCh37: 1:47882168-47882168
GRCh38: 1:47416496-47416496
22 PXDN NM_012293.3(PXDN):c.2459A>G (p.Gln820Arg) SNV Likely pathogenic 635164 rs1558489563 GRCh37: 2:1653093-1653093
GRCh38: 2:1649321-1649321
23 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
24 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.527C>T (p.Ala176Val) SNV Uncertain significance 643978 rs201955081 GRCh37: 1:47882514-47882514
GRCh38: 1:47416842-47416842
25 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.404A>G (p.Glu135Gly) SNV Uncertain significance 650898 rs372281087 GRCh37: 1:47882391-47882391
GRCh38: 1:47416719-47416719
26 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.575_580CGCCCG[1] (p.192_193AP[1]) Microsatellite Uncertain significance 655743 rs1336140217 GRCh37: 1:47882560-47882565
GRCh38: 1:47416888-47416893
27 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.106G>A (p.Glu36Lys) SNV Uncertain significance 498360 rs900562270 GRCh37: 1:47882093-47882093
GRCh38: 1:47416421-47416421
28 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.135_155del (p.Ala46_Ala52del) Deletion Uncertain significance 834580 GRCh37: 1:47882114-47882134
GRCh38: 1:47416442-47416462
29 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.838C>T (p.Pro280Ser) SNV Uncertain significance 836896 GRCh37: 1:47882825-47882825
GRCh38: 1:47417153-47417153
30 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.287C>G (p.Ala96Gly) SNV Uncertain significance 837571 GRCh37: 1:47882274-47882274
GRCh38: 1:47416602-47416602
31 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.736G>A (p.Ala246Thr) SNV Uncertain significance 838131 GRCh37: 1:47882723-47882723
GRCh38: 1:47417051-47417051
32 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.487C>T (p.Arg163Cys) SNV Uncertain significance 844460 GRCh37: 1:47882474-47882474
GRCh38: 1:47416802-47416802
33 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser) SNV Uncertain significance 848730 GRCh37: 1:47882690-47882690
GRCh38: 1:47417018-47417018
34 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) SNV Uncertain significance 427852 rs377669670 GRCh37: 1:47882219-47882219
GRCh38: 1:47416547-47416547
35 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser) SNV Uncertain significance 617853 rs745571457 GRCh37: 1:47882321-47882321
GRCh38: 1:47416649-47416649
36 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro) SNV Uncertain significance 856708 GRCh37: 1:47882039-47882039
GRCh38: 1:47416367-47416367
37 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.925C>A (p.Pro309Thr) SNV Uncertain significance 426214 rs1085307504 GRCh37: 1:47882912-47882912
GRCh38: 1:47417240-47417240
38 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.956T>A (p.Leu319Gln) SNV Uncertain significance 861248 GRCh37: 1:47882943-47882943
GRCh38: 1:47417271-47417271
39 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.61G>A (p.Ala21Thr) SNV Uncertain significance 861717 GRCh37: 1:47882048-47882048
GRCh38: 1:47416376-47416376
40 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.608C>A (p.Pro203Gln) SNV Uncertain significance 861732 GRCh37: 1:47882595-47882595
GRCh38: 1:47416923-47416923
41 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.625G>C (p.Gly209Arg) SNV Uncertain significance 862439 GRCh37: 1:47882612-47882612
GRCh38: 1:47416940-47416940
42 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.291C>G (p.Ile97Met) SNV Uncertain significance 935371 GRCh37: 1:47882278-47882278
GRCh38: 1:47416606-47416606
43 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.415C>G (p.Pro139Ala) SNV Uncertain significance 935933 GRCh37: 1:47882402-47882402
GRCh38: 1:47416730-47416730
44 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.204G>C (p.Gln68His) SNV Uncertain significance 938104 GRCh37: 1:47882191-47882191
GRCh38: 1:47416519-47416519
45 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.91C>T (p.Pro31Ser) SNV Uncertain significance 939105 GRCh37: 1:47882078-47882078
GRCh38: 1:47416406-47416406
46 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.619G>A (p.Gly207Arg) SNV Uncertain significance 939305 GRCh37: 1:47882606-47882606
GRCh38: 1:47416934-47416934
47 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.709C>T (p.Pro237Ser) SNV Uncertain significance 940300 GRCh37: 1:47882696-47882696
GRCh38: 1:47417024-47417024
48 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.338G>C (p.Arg113Pro) SNV Uncertain significance 941853 GRCh37: 1:47882325-47882325
GRCh38: 1:47416653-47416653
49 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3]) Microsatellite Uncertain significance 945230 GRCh37: 1:47882545-47882546
GRCh38: 1:47416873-47416874
50 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.145G>C (p.Gly49Arg) SNV Uncertain significance 952102 GRCh37: 1:47882132-47882132
GRCh38: 1:47416460-47416460

Expression for Anterior Segment Dysgenesis

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

Pathways for Anterior Segment Dysgenesis

Pathways related to Anterior Segment Dysgenesis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.42 PAX6 ITPR1 FOXC1

GO Terms for Anterior Segment Dysgenesis

Cellular components related to Anterior Segment Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.23 VSX1 PITX3 PITX2 PAX6 MAF HMX1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.13 VSX1 PITX3 PITX2 PAX6 MAF HMX1
2 multicellular organism development GO:0007275 10.05 VSX1 PITX3 PITX2 PAX6 LGR4 HMX1
3 regulation of transcription, DNA-templated GO:0006355 10.01 VSX1 PITX3 PITX2 PAX6 MAF HMX1
4 anatomical structure morphogenesis GO:0009653 9.67 PITX3 PITX2 FOXE3 FOXC1
5 collagen fibril organization GO:0030199 9.61 PXDN FOXC1 CYP1B1
6 negative regulation of neurogenesis GO:0050768 9.56 PITX3 PAX6
7 lens fiber cell differentiation GO:0070306 9.55 PITX3 MAF
8 cornea development in camera-type eye GO:0061303 9.54 PAX6 FOXE3
9 positive regulation of core promoter binding GO:1904798 9.49 PAX6 FOXC1
10 lacrimal gland development GO:0032808 9.48 PAX6 FOXC1
11 retinal blood vessel morphogenesis GO:0061304 9.46 CYP1B1 COL4A1
12 eye development GO:0001654 9.46 PAX6 FOXE3 FOXC1 CPAMD8
13 iris morphogenesis GO:0061072 9.43 PITX2 PAX6 FOXE3
14 camera-type eye development GO:0043010 9.35 PITX2 PAX6 GJA8 FOXE3 FOXC1
15 trabecular meshwork development GO:0002930 9.32 FOXE3 CYP1B1
16 lens development in camera-type eye GO:0002088 9.02 PITX3 PAX6 MAF GJA8 FOXE3

Molecular functions related to Anterior Segment Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.92 VSX1 PITX3 PITX2 PAX6 MAF HMX1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.85 PITX3 PITX2 PAX6 MAF FOXE3 FOXC1
3 sequence-specific double-stranded DNA binding GO:1990837 9.63 VSX1 PITX3 PITX2 PAX6 MAF HMX1
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.56 VSX1 PITX2 PAX6 FOXC1
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 VSX1 PITX3 PITX2 PAX6 MAF HMX1
6 DNA-binding transcription factor activity GO:0003700 9.17 VSX1 PITX3 PITX2 PAX6 MAF FOXE3

Sources for Anterior Segment Dysgenesis

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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