MCID: ANT086
MIFTS: 34

Anterior Segment Dysgenesis 2

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

Aliases & Classifications for Anterior Segment Dysgenesis 2

MalaCards integrated aliases for Anterior Segment Dysgenesis 2:

Name: Anterior Segment Dysgenesis 2 57 75
Congenital Primary Aphakia 53 59 75 37 29 6
Aphakia, Congenital Primary 57 53 75 13 40
Cpa 57 53 75
Asgd2 57 75
Cpak 57 75
Anterior Segment Dysgenesis 2, Multiple Subtypes 57
Aphakia, Congenital Primary; Cpak 57
Aphakia 44

Characteristics:

Orphanet epidemiological data:

59
congenital primary aphakia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable features may be present


HPO:

32
anterior segment dysgenesis 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610256
Orphanet 59 ORPHA83461
ICD10 via Orphanet 34 Q12.3
MESH via Orphanet 45 C537786
UMLS via Orphanet 74 C1853230
MedGen 42 C1853230
MeSH 44 D001035
KEGG 37 H00676
ICD10 33 H27.0

Summaries for Anterior Segment Dysgenesis 2

UniProtKB/Swiss-Prot : 75 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 aspergillosis and congenital aphakia. An important gene associated with Anterior Segment Dysgenesis 2 is FOXE3 (Forkhead Box E3). Affiliated tissues include eye and retina, and related phenotypes are abnormality of vision and microphthalmia

NIH Rare Diseases : 53 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)

Related Diseases for Anterior Segment Dysgenesis 2

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
microphthalmia
sclerocornea
microcornea
peters anomaly
more

Clinical features from OMIM:

610256

Human phenotypes related to Anterior Segment Dysgenesis 2:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of vision 59 32 frequent (33%) Frequent (79-30%) HP:0000504
2 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
3 retinal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0007973
4 sclerocornea 59 32 frequent (33%) Frequent (79-30%) HP:0000647
5 nystagmus 32 HP:0000639
6 cataract 32 HP:0000518
7 microcornea 32 HP:0000482
8 aniridia 32 HP:0000526
9 peters anomaly 32 HP:0000659
10 congenital primary aphakia 59 Very frequent (99-80%)
11 aplasia/hypoplasia affecting the anterior segment of the eye 59 Very frequent (99-80%)
12 anterior segment of eye aplasia 32 HP:0007779
13 posterior synechiae of the anterior chamber 32 HP:0011484
14 aphakia 32 hallmark (90%) HP:0007707

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

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.85 PITX3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.85 FOXE3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.85 PITX3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.85 FOXE3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.85 PITX3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.85 PITX3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.85 PITX3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.85 FOXE3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.85 FOXE3 PITX3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.85 FOXE3 PITX3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.85 PITX3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.85 PITX3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.85 PITX3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.85 PITX3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.85 PITX3
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.77 FOXE3
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.77 PITX3
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.77 FOXE3
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.77 FOXE3
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.77 FOXE3
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.77 PITX3
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.77 FOXE3
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.77 PITX3 FOXE3
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.77 PITX3
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.77 PITX3
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.77 PITX3
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.77 PITX3

Drugs & Therapeutics for Anterior Segment Dysgenesis 2

Search Clinical Trials , 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 FOXE3

Anatomical Context for Anterior Segment Dysgenesis 2

MalaCards organs/tissues related to Anterior Segment Dysgenesis 2:

41
Eye, Retina

Publications for Anterior Segment Dysgenesis 2

Articles related to Anterior Segment Dysgenesis 2:

# Title Authors Year
1
A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family. ( 20361012 )
2010
2
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. ( 16826526 )
2006

Variations for Anterior Segment Dysgenesis 2

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

75
# Symbol AA change Variation ID SNP ID
1 FOXE3 p.Arg90Leu VAR_062584 rs371048362
2 FOXE3 p.Arg120Gly VAR_072783

ClinVar genetic disease variations for Anterior Segment Dysgenesis 2:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXE3 FOXE3, 1-BP INS, 943G insertion Pathogenic
2 FOXE3 NM_012186.2(FOXE3): c.720C> A (p.Cys240Ter) single nucleotide variant Pathogenic rs80358194 GRCh37 Chromosome 1, 47882707: 47882707
3 FOXE3 NM_012186.2(FOXE3): c.720C> A (p.Cys240Ter) single nucleotide variant Pathogenic rs80358194 GRCh38 Chromosome 1, 47417035: 47417035
4 FOXE3 NM_012186.2(FOXE3): c.959G> T (p.Ter320Leu) single nucleotide variant Pathogenic rs387906793 GRCh37 Chromosome 1, 47882946: 47882946
5 FOXE3 NM_012186.2(FOXE3): c.959G> T (p.Ter320Leu) single nucleotide variant Pathogenic rs387906793 GRCh38 Chromosome 1, 47417274: 47417274
6 FOXE3 NM_012186.2(FOXE3): c.232G> A (p.Ala78Thr) single nucleotide variant Likely pathogenic rs377669670 GRCh38 Chromosome 1, 47416547: 47416547
7 FOXE3 NM_012186.2(FOXE3): c.232G> A (p.Ala78Thr) single nucleotide variant Likely pathogenic rs377669670 GRCh37 Chromosome 1, 47882219: 47882219
8 FOXE3 NM_012186.2(FOXE3): c.310C> T (p.Arg104Cys) single nucleotide variant Likely pathogenic rs755377651 GRCh38 Chromosome 1, 47416625: 47416625
9 FOXE3 NM_012186.2(FOXE3): c.310C> T (p.Arg104Cys) single nucleotide variant Likely pathogenic rs755377651 GRCh37 Chromosome 1, 47882297: 47882297
10 FOXE3 NM_012186.2(FOXE3): c.587G> C (p.Gly196Ala) single nucleotide variant Benign/Likely benign rs281865461 GRCh37 Chromosome 1, 47882574: 47882574
11 FOXE3 NM_012186.2(FOXE3): c.587G> C (p.Gly196Ala) single nucleotide variant Benign/Likely benign rs281865461 GRCh38 Chromosome 1, 47416902: 47416902

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

Cellular components related to Anterior Segment Dysgenesis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 8.62 PDYN PITX3

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

# Name GO ID Score Top Affiliating Genes
1 lens development in camera-type eye GO:0002088 8.62 FOXE3 PITX3

Sources for Anterior Segment Dysgenesis 2

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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