MCID: ANT088
MIFTS: 43

Anterior Segment Dysgenesis

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

Aliases & Classifications for Anterior Segment Dysgenesis

MalaCards integrated aliases for Anterior Segment Dysgenesis:

Name: Anterior Segment Dysgenesis 54 38 30
Anterior Segment Mesenchymal Dysgenesis 54 74
Familial Ocular Anterior Segment Mesenchymal Dysgenesis 54
Anterior Segment Developmental Anomaly 54
Anterior Segment Ocular Dysgenesis 54
Axenfeld-Rieger Syndrome, Type 3 74
Foxe3-Related Ocular Disorder 54
Dysgenesis, Anterior Segment 41
Irido-Corneal Dysgenesis 74
Asmd 54
Asod 54

Classifications:



Summaries for Anterior Segment Dysgenesis

NIH Rare Diseases : 54 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 2. An important gene associated with Anterior Segment Dysgenesis is PXDN (Peroxidasin). Affiliated tissues include eye, heart and skin, and related phenotypes are visual impairment and aplasia/hypoplasia of the iris

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
Autosomal Recessive Anterior Segment Dysgenesis

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

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 5 34.6 CYP1B1 PAX6
2 anterior segment dysgenesis 2 34.6 FOXE3 PITX3
3 anterior segment dysgenesis 4 34.4 FOXC1 PITX2
4 autosomal recessive anterior segment dysgenesis 34.1 A2M CPAMD8
5 anterior segment dysgenesis 1 33.8 FOXE3 MAF PAX6 PITX2 PITX3
6 axenfeld-rieger syndrome, type 3 33.3 CYP1B1 FOXC1 PAX6 PITX2
7 early-onset glaucoma 30.5 CYP1B1 PITX2
8 coloboma of macula 30.4 CYP1B1 FOXE3 PAX6
9 glaucoma 3, primary congenital, a 30.2 CYP1B1 FOXC1 PAX6 PITX2
10 peters-plus syndrome 30.1 CYP1B1 FOXC1 FOXE3 PAX6 PITX2 PITX3
11 optic nerve hypoplasia, bilateral 30.1 COL4A1 PAX6
12 cataract 30.1 FOXE3 MAF PAX6 PITX3
13 axenfeld-rieger syndrome 30.0 CYP1B1 FOXC1 PAX6 PITX2
14 aniridia 1 29.8 CYP1B1 FOXC1 FOXE3 PAX6 PITX2 SLC38A8
15 anterior segment dysgenesis 7 12.8
16 anterior segment dysgenesis 3 12.8
17 anterior segment dysgenesis 8 12.8
18 anterior segment dysgenesis 6 12.7
19 craniofacial anomalies and anterior segment dysgenesis syndrome 12.7
20 brachydactyly, coloboma, and anterior segment dysgenesis 12.5
21 foveal hypoplasia 2 12.4
22 oculoauricular syndrome 12.2
23 edict syndrome 11.6
24 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.3
25 acid sphingomyelinase deficiency 10.4
26 isolated foveal hypoplasia 10.4 PAX6 SLC38A8
27 isolated aniridia 10.4 FOXC1 PAX6
28 axenfeld-rieger syndrome, type 2 10.3 FOXC1 PITX2
29 glaucoma-related pigment dispersion syndrome 10.3 CYP1B1 PITX2
30 intestinal atresia 10.3 FOXC1 PAX6 PITX2
31 hydrophthalmos 10.2 CYP1B1 FOXC1 PITX2
32 primary congenital glaucoma 10.2 CYP1B1 FOXC1 PITX2
33 microphthalmia 10.2
34 keloids 10.2
35 axenfeld-rieger syndrome, type 1 10.2 PAX6 PITX2 PITX3
36 autism spectrum disorder 10.2
37 coloboma, ocular, autosomal dominant 10.1 CYP1B1 PAX6
38 lens disease 10.1 FOXE3 PAX6 PITX3
39 iris disease 10.1 FOXC1 PAX6 PITX2 SLC38A8
40 cataract 11, multiple types 10.1
41 congenital aphakia 10.1 FOXE3 PAX6
42 chromosomal triplication 10.1
43 adamantinoma of long bones 10.1 CYP1B1 FOXC1 PAX6 PITX2
44 melnick-needles syndrome 10.0
45 chromosome 16p13.3 deletion syndrome, proximal 10.0
46 bowenoid papulosis 10.0
47 corneal degeneration 10.0 TGFBI VSX1
48 congenital nystagmus 10.0 PAX6 SLC38A8
49 fuchs' endothelial dystrophy 10.0 PITX2 TGFBI VSX1
50 linear skin defects with multiple congenital anomalies 1 9.9

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:

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

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 COL4A1 FOXC1 HMX1 LGR4 PAX6 PIK3R1
2 growth/size/body region MP:0005378 10.02 COL4A1 FOXC1 HMX1 LGR4 MAF PAX6
3 immune system MP:0005387 9.91 COL4A1 LGR4 MAF PAX6 PIK3R1 PITX2
4 nervous system MP:0003631 9.85 COL4A1 FOXC1 HMX1 LGR4 MAF PAX6
5 vision/eye MP:0005391 9.4 COL4A1 CYP1B1 FOXC1 HMX1 LGR4 MAF
6 pigmentation MP:0001186 9.35 FOXC1 PAX6 PITX2 PITX3 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 30

Anatomical Context for Anterior Segment Dysgenesis

MalaCards organs/tissues related to Anterior Segment Dysgenesis:

42
Eye, Heart, Skin, Pituitary, Hypothalamus, Bone, Endothelial

Publications for Anterior Segment Dysgenesis

Articles related to Anterior Segment Dysgenesis:

(show top 50) (show all 79)
# Title Authors Year
1
CGH array for the identification of a compound heterozygous mutation in the CYP1B1 gene in a patient with bilateral anterior segment dysgenesis. ( 30207287 )
2019
2
Feline Neovascular Vitreoretinopathy and Anterior Segment Dysgenesis With Concurrent Glaucoma in Domestic Cats. ( 30222091 )
2019
3
Lens-specific conditional knockout of Msx2 in mice leads to ocular anterior segment dysgenesis via activation of a calcium signaling pathway. ( 30683901 )
2019
4
An unusual case of bilateral pigmented maculopathy and anterior segment dysgenesis. ( 29148029 )
2018
5
Bilateral anterior segment dysgenesis with the presumed Peters' anomaly in a cat. ( 29249729 )
2018
6
Trabecular meshwork morphogenesis: A comparative analysis of wildtype and anterior segment dysgenesis mouse models. ( 29452107 )
2018
7
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes. ( 30225942 )
2018
8
Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis. ( 30242500 )
2018
9
Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma. ( 30585077 )
2018
10
Hand-held optical coherence tomography imaging in children with anterior segment dysgenesis. ( 27130748 )
2017
11
COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis. ( 28043398 )
2017
12
Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse. ( 28237965 )
2017
13
A novel mouse model of anterior segment dysgenesis (ASD): conditional deletion of Tsc1 disrupts ciliary body and iris development. ( 28250050 )
2017
14
Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase. ( 28632845 )
2017
15
A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations. ( 28979898 )
2017
16
Conditional deletion of AP-2β in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma. ( 27483349 )
2016
17
Anterior segment dysgenesis correlation with epithelial-mesenchymal transition in Smad4 knockout mice. ( 27500098 )
2016
18
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. ( 27839872 )
2016
19
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. ( 24939590 )
2015
20
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy. ( 25574057 )
2015
21
Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis. ( 26273469 )
2015
22
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. ( 26310487 )
2015
23
Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice. ( 26567795 )
2015
24
A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18. ( 27617135 )
2015
25
Genomics and anterior segment dysgenesis: a review. ( 24433355 )
2014
26
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
27
Anterior segment dysgenesis. ( 24879108 )
2014
28
Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature. ( 24885071 )
2014
29
Familial juvenile normal-tension glaucoma with anterior segment dysgenesis: a clinical report of a new phenotype. ( 22525125 )
2013
30
Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs. ( 23217015 )
2013
31
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. ( 23394911 )
2013
32
Unilateral persistent fetal vasculature coexisting with anterior segment dysgenesis. ( 23504283 )
2013
33
A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. ( 24194637 )
2013
34
Clinical features of anterior segment dysgenesis associated with congenital corneal opacities. ( 22157569 )
2012
35
Loss of Msx2 function down-regulates the FoxE3 expression and results in anterior segment dysgenesis resembling Peters anomaly. ( 22503753 )
2012
36
Ocular anterior segment dysgenesis upon ablation of p120 catenin in neural crest cells. ( 22736606 )
2012
37
Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p. ( 23084388 )
2012
38
Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. ( 21282566 )
2011
39
Genetics of anterior segment dysgenesis disorders. ( 21730847 )
2011
40
Foxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 gene. ( 22022403 )
2011
41
Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous. ( 22946409 )
2011
42
Forme fruste anterior segment dysgenesis. ( 20805124 )
2011
43
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. ( 21150893 )
2011
44
A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum. ( 18616618 )
2009
45
Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis. ( 19793056 )
2009
46
Anterior segment dysgenesis in the eyes of mice deficient for the high-mobility-group transcription factor Sox11. ( 18423449 )
2008
47
Deletion of G protein-coupled receptor 48 leads to ocular anterior segment dysgenesis (ASD) through down-regulation of Pitx2. ( 18424556 )
2008
48
Anterior segment dysgenesis: Peters anomaly and sclerocornea. ( 18427259 )
2008
49
Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. ( 18989383 )
2008
50
Molecular and developmental mechanisms of anterior segment dysgenesis. ( 17914434 )
2007

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

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 8.92 A2M COL4A1 PXDN TGFBI

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.8 CYP1B1 PAX6 TGFBI VSX1
2 anatomical structure morphogenesis GO:0009653 9.67 FOXC1 FOXE3 PITX2 PITX3
3 transcription by RNA polymerase II GO:0006366 9.58 FOXE3 MAF PAX6
4 blood vessel morphogenesis GO:0048514 9.57 COL4A1 CYP1B1
5 negative regulation of neurogenesis GO:0050768 9.56 PAX6 PITX3
6 camera-type eye development GO:0043010 9.56 FOXC1 FOXE3 PAX6 PITX2
7 lens fiber cell differentiation GO:0070306 9.54 MAF PITX3
8 cornea development in camera-type eye GO:0061303 9.52 FOXE3 PAX6
9 lacrimal gland development GO:0032808 9.51 FOXC1 PAX6
10 retinal blood vessel morphogenesis GO:0061304 9.48 COL4A1 CYP1B1
11 iris morphogenesis GO:0061072 9.33 FOXE3 PAX6 PITX2
12 trabecular meshwork development GO:0002930 9.32 CYP1B1 FOXE3
13 lens development in camera-type eye GO:0002088 9.26 FOXE3 MAF PAX6 PITX3
14 eye development GO:0001654 8.92 CPAMD8 FOXC1 FOXE3 PAX6
15 regulation of transcription, DNA-templated GO:0006355 10.03 FOXC1 FOXE3 HMX1 MAF PAX6 PITX2
16 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 FOXC1 MAF PAX6 PIK3R1 PITX2 PITX3
17 multicellular organism development GO:0007275 10 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, RNA polymerase II-specific GO:0000981 9.76 FOXC1 FOXE3 HMX1 MAF PAX6 PITX2
3 transcription factor binding GO:0008134 9.67 FOXC1 PAX6 PIK3R1 PITX2
4 extracellular matrix structural constituent GO:0005201 9.5 COL4A1 PXDN TGFBI
5 DNA-binding transcription factor activity GO:0003700 9.5 FOXC1 FOXE3 MAF PAX6 PITX2 PITX3
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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