MCID: ANT068
MIFTS: 31

Anterior Segment Dysgenesis 2, Multiple Subtypes

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

Aliases & Classifications for Anterior Segment Dysgenesis 2, Multiple Subtypes

MalaCards integrated aliases for Anterior Segment Dysgenesis 2, Multiple Subtypes:

Name: Anterior Segment Dysgenesis 2, Multiple Subtypes 54
Aphakia, Congenital Primary 71 29 13
Congenital Primary Aphakia 56 71
Anterior Segment Dysgenesis 2 71
Aphakia 42
Asgd2 71
Cpak 71
Cpa 71

Characteristics:

Orphanet epidemiological data:

56
congenital primary aphakia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable features may be present


HPO:

32
anterior segment dysgenesis 2, multiple subtypes:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 610256
Orphanet 56 ORPHA83461
MESH via Orphanet 43 C537786
UMLS via Orphanet 70 C1853230
ICD10 via Orphanet 34 Q12.3
MedGen 40 C1853230
MeSH 42 D001035
ICD10 33 H27.0

Summaries for Anterior Segment Dysgenesis 2, Multiple Subtypes

UniProtKB/Swiss-Prot : 71 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, Multiple Subtypes, also known as aphakia, congenital primary, is related to congenital aphakia and cataract 11, multiple types, and has symptoms including microphthalmia, congenital primary aphakia and sclerocornea. An important gene associated with Anterior Segment Dysgenesis 2, Multiple Subtypes is FOXE3 (Forkhead Box E3). Affiliated tissues include eye and retina, and related phenotype is Increased shRNA abundance (Z-score > 2).

OMIM : 54
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, Multiple Subtypes

Diseases in the Anterior Segment Dysgenesis 1, Multiple Subtypes family:

Anterior Segment Dysgenesis 2, Multiple Subtypes Anterior Segment Dysgenesis 6, Multiple Subtypes
Anterior Segment Dysgenesis 3, Multiple Subtypes Anterior Segment Dysgenesis 5, Multiple Subtypes

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

id Related Disease Score Top Affiliating Genes
1 congenital aphakia 11.2
2 cataract 11, multiple types 9.6 FOXE3 PITX3
3 isolated microphthalmia 9.5 FOXE3 PITX3
4 anorectal stricture 9.5 FOXE3 PITX3
5 breast-ovarian cancer, familial, 2 9.4 FOXE3 PITX3
6 anterior segment dysgenesis 5, multiple subtypes 9.3 FOXE3 PITX3
7 parkinson disease, late-onset 9.2 PDYN PITX3

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



Diseases related to Anterior Segment Dysgenesis 2, Multiple Subtypes

Symptoms & Phenotypes for Anterior Segment Dysgenesis 2, Multiple Subtypes

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
nystagmus
cataracts
microphthalmia
congenital primary aphakia
anterior segment of eye aplasia
more

Clinical features from OMIM:

610256

Human phenotypes related to Anterior Segment Dysgenesis 2, Multiple Subtypes:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microphthalmia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000568
2 congenital primary aphakia 56 32 hallmark (90%) Very frequent (99-80%) HP:0007707
3 sclerocornea 56 32 frequent (33%) Frequent (79-30%) HP:0000647
4 retinal dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0007973
5 abnormality of vision 56 32 frequent (33%) Frequent (79-30%) HP:0000504
6 anterior segment of eye aplasia 32 HP:0007779
7 aniridia 32 HP:0000526
8 aplasia/hypoplasia affecting the anterior segment of the eye 56 Very frequent (99-80%)

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.88 PITX3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.88 FOXE3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.88 PITX3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.88 FOXE3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.88 PITX3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.88 PITX3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.88 PITX3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.88 FOXE3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.88 FOXE3 PITX3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.88 PITX3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.88 FOXE3 PITX3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.88 PITX3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.88 PITX3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.88 PITX3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.88 PITX3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.88 PITX3
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.73 FOXE3
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.73 PITX3
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.73 FOXE3
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.73 FOXE3
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.73 FOXE3
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.73 PITX3
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.73 FOXE3
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.73 FOXE3 PITX3
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.73 PITX3
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.73 PITX3
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.73 PITX3

Drugs & Therapeutics for Anterior Segment Dysgenesis 2, Multiple Subtypes

Search Clinical Trials , NIH Clinical Center for Anterior Segment Dysgenesis 2, Multiple Subtypes

Cochrane evidence based reviews: aphakia

Genetic Tests for Anterior Segment Dysgenesis 2, Multiple Subtypes

Genetic tests related to Anterior Segment Dysgenesis 2, Multiple Subtypes:

id Genetic test Affiliating Genes
1 Aphakia, Congenital Primary 29
2 Congenital Primary Aphakia 24 FOXE3

Anatomical Context for Anterior Segment Dysgenesis 2, Multiple Subtypes

MalaCards organs/tissues related to Anterior Segment Dysgenesis 2, Multiple Subtypes:

39
Eye, Retina

Publications for Anterior Segment Dysgenesis 2, Multiple Subtypes

Variations for Anterior Segment Dysgenesis 2, Multiple Subtypes

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

71
id 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, Multiple Subtypes:

6
id 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.959G> T (p.Ter320Leu) single nucleotide variant Pathogenic rs387906793 GRCh37 Chromosome 1, 47882946: 47882946

Expression for Anterior Segment Dysgenesis 2, Multiple Subtypes

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

Pathways for Anterior Segment Dysgenesis 2, Multiple Subtypes

GO Terms for Anterior Segment Dysgenesis 2, Multiple Subtypes

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

id 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, Multiple Subtypes according to GeneCards Suite gene sharing:

id 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, Multiple Subtypes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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