MCID: ANT088
MIFTS: 38

Anterior Segment Dysgenesis

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

Aliases & Classifications for Anterior Segment Dysgenesis

MalaCards integrated aliases for Anterior Segment Dysgenesis:

Name: Anterior Segment Dysgenesis 53 37 29
Anterior Segment Mesenchymal Dysgenesis 53 73
Familial Ocular Anterior Segment Mesenchymal Dysgenesis 53
Anterior Segment Ocular Dysgenesis 53
Axenfeld-Rieger Syndrome, Type 3 73
Foxe3-Related Ocular Disorder 53
Dysgenesis, Anterior Segment 40
Irido-Corneal Dysgenesis 73
Asmd 53
Asod 53

Classifications:



External Ids:

KEGG 37 H01159

Summaries for Anterior Segment Dysgenesis

NIH Rare Diseases : 53 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 mesenchymal dysgenesis, is related to anterior segment dysgenesis 5 and anterior segment dysgenesis 4. An important gene associated with Anterior Segment Dysgenesis is PXDN (Peroxidasin). Affiliated tissues include eye and heart, and related phenotypes are cellular and growth/size/body region

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 54)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 5 34.8 CYP1B1 PAX6
2 anterior segment dysgenesis 4 34.6 FOXC1 PITX2
3 anterior segment dysgenesis 2 34.5 FOXE3 PITX3
4 anterior segment dysgenesis 1 33.2 FOXE3 MAF PAX6 PITX2 PITX3
5 peters-plus syndrome 31.4 CYP1B1 FOXC1 FOXE3 PAX6 PITX2 PITX3
6 early-onset glaucoma 30.6 CYP1B1 PITX2
7 persistent hyperplastic primary vitreous 30.4 FOXC1 PAX6 PITX2
8 axenfeld-rieger syndrome 30.0 CYP1B1 FOXC1 PAX6 PITX2
9 microphthalmia 29.9 FOXE3 PAX6 PITX3 PXDN
10 cataract 29.0 FOXE3 MAF PAX6 PITX2 PITX3 PXDN
11 anterior segment dysgenesis 7 12.6
12 anterior segment dysgenesis 3 12.6
13 anterior segment dysgenesis 6 12.6
14 craniofacial anomalies and anterior segment dysgenesis syndrome 12.5
15 anterior segment dysgenesis 8 12.5
16 brachydactyly, coloboma, and anterior segment dysgenesis 12.3
17 foveal hypoplasia 2 12.3
18 oculoauricular syndrome 12.0
19 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.1
20 edict syndrome 11.1
21 isolated aniridia 10.8 FOXC1 PAX6
22 axenfeld-rieger syndrome, type 3 10.7 FOXC1 PITX2
23 axenfeld-rieger syndrome, type 2 10.6 FOXC1 PITX2
24 glaucoma-related pigment dispersion syndrome 10.6 CYP1B1 PITX2
25 intestinal atresia 10.5 FOXC1 PAX6 PITX2
26 iris disease 10.5 FOXC1 PAX6 PITX2
27 hydrophthalmos 10.5 CYP1B1 FOXC1 PITX2
28 intraocular pressure quantitative trait locus 10.5 CYP1B1 FOXC1 PITX2
29 optic nerve hypoplasia, bilateral 10.5 COL4A1 PAX6
30 primary congenital glaucoma 10.5 CYP1B1 FOXC1 PITX2
31 coloboma, ocular, autosomal dominant 10.5 CYP1B1 PAX6
32 cornea plana 10.4 FOXC1 PITX2
33 axenfeld-rieger syndrome, type 1 10.3 PAX6 PITX2 PITX3
34 coloboma of macula 10.3 CYP1B1 FOXE3 PAX6
35 lens disease 10.3 FOXE3 PAX6 PITX3
36 pathologic nystagmus 10.3 PAX6 SLC38A8
37 glaucoma 3, primary congenital, a 10.2 CYP1B1 FOXC1 PAX6 PITX2
38 congenital aphakia 10.0 FOXE3 PAX6
39 retinitis 9.9
40 corneal degeneration 9.9 TGFBI VSX1
41 fuchs' endothelial dystrophy 9.9 PITX2 TGFBI VSX1
42 williams-beuren syndrome 9.8
43 factor vii deficiency 9.8
44 alveolar capillary dysplasia with misalignment of pulmonary veins 9.8
45 cataract 9, multiple types 9.8
46 brachydactyly 9.8
47 sclerocornea 9.8
48 heart disease 9.8
49 ectropion 9.8
50 cerebritis 9.8

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



Diseases related to Anterior Segment Dysgenesis

Symptoms & Phenotypes for Anterior Segment Dysgenesis

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 PXDN TGFBI LGR4 PAX6 PIK3R1 COL4A1
2 growth/size/body region MP:0005378 9.96 HMX1 TGFBI LGR4 MAF PAX6 PIK3R1
3 nervous system MP:0003631 9.85 LGR4 VSX1 MAF PAX6 COL4A1 PITX2
4 vision/eye MP:0005391 9.4 TGFBI LGR4 VSX1 MAF PAX6 PITX2
5 pigmentation MP:0001186 9.35 PAX6 PITX2 PITX3 FOXC1 PXDN

Drugs & Therapeutics for Anterior Segment Dysgenesis

Search Clinical Trials , 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

MalaCards organs/tissues related to Anterior Segment Dysgenesis:

41
Eye, Heart

Publications for Anterior Segment Dysgenesis

Articles related to Anterior Segment Dysgenesis:

(show all 45)
# Title Authors Year
1
Bilateral anterior segment dysgenesis with the presumed Peters' anomaly in a cat. ( 29249729 )
2018
2
Trabecular meshwork morphogenesis: A comparative analysis of wildtype and anterior segment dysgenesis mouse models. ( 29452107 )
2018
3
An unusual case of bilateral pigmented maculopathy and anterior segment dysgenesis. ( 29148029 )
2018
4
Genetic dissection of anterior segment dysgenesis caused by a <i>Col4a1</i> mutation in mouse. ( 28237965 )
2017
5
COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis. ( 28043398 )
2017
6
A Novel Mutation in <i>FOXC1</i> in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for <i>NFATC1</i> and <i>DPT</i> in the Phenotypic Variations. ( 28979898 )
2017
7
Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase. ( 28632845 )
2017
8
A novel mouse model of anterior segment dysgenesis (ASD): conditional deletion of <i>Tsc1</i> disrupts ciliary body and iris development. ( 28250050 )
2017
9
Hand-held optical coherence tomography imaging in children with anterior segment dysgenesis. ( 27130748 )
2017
10
Anterior segment dysgenesis correlation with epithelial-mesenchymal transition in Smad4 knockout mice. ( 27500098 )
2016
11
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. ( 27839872 )
2016
12
Conditional deletion of AP-2I^ in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma. ( 27483349 )
2016
13
Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis. ( 26273469 )
2015
14
A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18. ( 27617135 )
2015
15
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy. ( 25574057 )
2015
16
Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice. ( 26567795 )
2015
17
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. ( 26310487 )
2015
18
Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature. ( 24885071 )
2014
19
Anterior segment dysgenesis. ( 24879108 )
2014
20
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. ( 24939590 )
2014
21
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. ( 24555714 )
2014
22
Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs. ( 23217015 )
2013
23
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. ( 23394911 )
2013
24
Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. ( 21282566 )
2011
25
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. ( 21150893 )
2011
26
Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous. ( 22946409 )
2011
27
Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis. ( 19793056 )
2009
28
A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum. ( 18616618 )
2009
29
Deletion of G protein-coupled receptor 48 leads to ocular anterior segment dysgenesis (ASD) through down-regulation of Pitx2. ( 18424556 )
2008
30
Anterior segment dysgenesis: Peters anomaly and sclerocornea. ( 18427259 )
2008
31
Anterior segment dysgenesis in a child with factor VII deficiency. ( 19668491 )
2007
32
Molecular and developmental mechanisms of anterior segment dysgenesis. ( 17914434 )
2007
33
Anterior segment dysgenesis after overexpression of transforming growth factor-beta-induced gene, beta igh3, in the mouse eye. ( 17982418 )
2007
34
Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). ( 17106362 )
2006
35
Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. ( 16449236 )
2006
36
A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2. ( 15466012 )
2004
37
Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis. ( 15621880 )
2004
38
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. ( 11772997 )
2002
39
Alveolar capillary dysplasia with misalignment of pulmonary veins and anterior segment dysgenesis of the eye: a report of a new association and review of the literature. ( 11536028 )
2001
40
Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure. ( 11722794 )
2001
41
Formation of corneal endothelium is essential for anterior segment development - a transgenic mouse model of anterior segment dysgenesis. ( 10631174 )
2000
42
Corneal coloboma, aphakia and retinal neovascularization with anterior segment dysgenesis (Peters' anomaly). ( 8887396 )
1996
43
Genetics of aniridia and anterior segment dysgenesis. ( 8795384 )
1996
44
Congenital iris ectropion and a new classification for anterior segment dysgenesis. ( 2324918 )
1990
45
Anterior segment dysgenesis keratolenticular adhesion and aniridia. ( 6988567 )
1980

Variations for Anterior Segment Dysgenesis

Expression for Anterior Segment Dysgenesis

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

Pathways for Anterior Segment Dysgenesis

GO Terms for Anterior Segment Dysgenesis

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.93 FOXC1 LGR4 PAX6 PITX2 PITX3
2 transcription by RNA polymerase II GO:0006366 9.85 FOXC1 FOXE3 MAF PAX6 PITX2 PITX3
3 brain development GO:0007420 9.81 COL4A1 FOXC1 PAX6 PITX2
4 visual perception GO:0007601 9.76 CYP1B1 PAX6 TGFBI VSX1
5 anatomical structure morphogenesis GO:0009653 9.75 FOXC1 FOXE3 PITX2
6 animal organ morphogenesis GO:0009887 9.74 PAX6 PITX2 PITX3
7 branching involved in blood vessel morphogenesis GO:0001569 9.61 COL4A1 PITX2
8 pituitary gland development GO:0021983 9.6 PAX6 PITX2
9 positive regulation of DNA binding GO:0043388 9.59 FOXC1 PITX2
10 blood vessel morphogenesis GO:0048514 9.58 COL4A1 CYP1B1
11 negative regulation of neurogenesis GO:0050768 9.56 PAX6 PITX3
12 camera-type eye development GO:0043010 9.56 FOXC1 FOXE3 PAX6 PITX2
13 lens fiber cell differentiation GO:0070306 9.52 MAF PITX3
14 cornea development in camera-type eye GO:0061303 9.49 FOXE3 PAX6
15 lacrimal gland development GO:0032808 9.43 FOXC1 PAX6
16 retinal blood vessel morphogenesis GO:0061304 9.4 COL4A1 CYP1B1
17 iris morphogenesis GO:0061072 9.33 FOXE3 PAX6 PITX2
18 trabecular meshwork development GO:0002930 9.32 CYP1B1 FOXE3
19 lens development in camera-type eye GO:0002088 9.26 FOXE3 MAF PAX6 PITX3
20 eye development GO:0001654 8.92 CPAMD8 FOXC1 FOXE3 PAX6
21 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 FOXC1 MAF PAX6 PIK3R1 PITX2 PITX3
22 multicellular organism development GO:0007275 10.02 FOXC1 HMX1 LGR4 PAX6 PITX2 PITX3

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 9.86 FOXC1 FOXE3 HMX1 MAF PAX6 PITX2
2 DNA binding transcription factor activity GO:0003700 9.7 FOXC1 FOXE3 MAF PAX6 PITX2 PITX3
3 transcription factor binding GO:0008134 9.62 FOXC1 PAX6 PIK3R1 PITX2
4 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.56 FOXC1 FOXE3 HMX1 MAF PAX6 PITX2
5 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.54 FOXC1 MAF PAX6
6 sequence-specific DNA binding GO:0043565 9.23 FOXC1 FOXE3 HMX1 MAF PAX6 PITX2

Sources for Anterior Segment Dysgenesis

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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