ASGD3
MCID: ANT084
MIFTS: 28

Anterior Segment Dysgenesis 3 (ASGD3)

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

Aliases & Classifications for Anterior Segment Dysgenesis 3

MalaCards integrated aliases for Anterior Segment Dysgenesis 3:

Name: Anterior Segment Dysgenesis 3 58 76 30 6
Iridogoniodysgenesis, Type 1 58 76 13 41 74
Irid1 58 76 56
Iridogoniodysgenesis Anomaly, Autosomal Dominant 58 76
Glaucoma Iridogoniodysplasia, Familial 58 76
Iris Hypoplasia with Glaucoma 58 76
Asgd3 58 76
Igda 58 76
Iridogoniodysgenesis Anomaly, Autosomal Dominant; Igda 58
Anterior Segment Dysgenesis 3, Multiple Subtypes 58
Iridogoniodysgenesis, Type 1; Irid1 58
Iridogoniodysgenesis Anomaly 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable features may be present


HPO:

33
anterior segment dysgenesis 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Anterior Segment Dysgenesis 3

OMIM : 58 Anterior segment dysgeneses (ASGD or ASMD) 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 ASGD3 have been reported with the following subtypes: iridogoniodysgenesis, Peters anomaly, Axenfeld anomaly, and Rieger anomaly. Iridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by Mears et al., 1996). Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906). In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012). (601631)

MalaCards based summary : Anterior Segment Dysgenesis 3, also known as iridogoniodysgenesis, type 1, is related to iris hypoplasia with glaucoma and anterior segment dysgenesis 4. An important gene associated with Anterior Segment Dysgenesis 3 is FOXC1 (Forkhead Box C1). Affiliated tissues include eye, and related phenotypes are cerebellar vermis hypoplasia and enlarged cisterna magna

UniProtKB/Swiss-Prot : 76 Anterior segment dysgenesis 3: 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. ASGD3 inheritance is autosomal dominant.

Related Diseases for Anterior Segment Dysgenesis 3

Graphical network of the top 20 diseases related to Anterior Segment Dysgenesis 3:



Diseases related to Anterior Segment Dysgenesis 3

Symptoms & Phenotypes for Anterior Segment Dysgenesis 3

Human phenotypes related to Anterior Segment Dysgenesis 3:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 cerebellar vermis hypoplasia 33 occasional (7.5%) HP:0001320
2 enlarged cisterna magna 33 occasional (7.5%) HP:0002280
3 glaucoma 33 HP:0000501
4 posterior embryotoxon 33 HP:0000627
5 ectopia pupillae 33 HP:0009918
6 hypoplastic iris stroma 33 HP:0007990
7 rieger anomaly 33 HP:0000558
8 peters anomaly 33 HP:0000659
9 axenfeld anomaly 33 HP:0001492
10 abnormal iris vasculature 33 HP:0007905

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
posterior embryotoxon
rieger anomaly
peters anomaly
axenfeld anomaly
goniodysgenesis
more
Neurologic Central Nervous System:
cerebellar vermis hypoplasia (in some patients)
enlarged cisterna magna (in some patients)

Clinical features from OMIM:

601631

Drugs & Therapeutics for Anterior Segment Dysgenesis 3

Search Clinical Trials , NIH Clinical Center for Anterior Segment Dysgenesis 3

Genetic Tests for Anterior Segment Dysgenesis 3

Genetic tests related to Anterior Segment Dysgenesis 3:

# Genetic test Affiliating Genes
1 Anterior Segment Dysgenesis 3 30 FOXC1

Anatomical Context for Anterior Segment Dysgenesis 3

MalaCards organs/tissues related to Anterior Segment Dysgenesis 3:

42
Eye

Publications for Anterior Segment Dysgenesis 3

Articles related to Anterior Segment Dysgenesis 3:

# Title Authors Year
1
Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly. ( 9382099 )
1997
2
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. ( 8940278 )
1996

Variations for Anterior Segment Dysgenesis 3

UniProtKB/Swiss-Prot genetic disease variations for Anterior Segment Dysgenesis 3:

76
# Symbol AA change Variation ID SNP ID
1 FOXC1 p.Phe112Ser VAR_007815 rs104893951
2 FOXC1 p.Ile126Met VAR_007816 rs104893958
3 FOXC1 p.Ser131Leu VAR_007817 rs104893957
4 FOXC1 p.Met161Lys VAR_018150
5 FOXC1 p.Met109Val VAR_078502 rs917382067
6 FOXC1 p.Ser131Trp VAR_078506
7 FOXC1 p.Lys138Glu VAR_078508
8 FOXC1 p.Trp152Gly VAR_078509
9 FOXC1 p.Pro297Ser VAR_078511 rs79691946

ClinVar genetic disease variations for Anterior Segment Dysgenesis 3:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXC1 FOXC1, 11-BP DEL deletion Pathogenic
2 FOXC1 NM_001453.3(FOXC1): c.392C> T (p.Ser131Leu) single nucleotide variant Pathogenic rs104893957 GRCh37 Chromosome 6, 1611072: 1611072
3 FOXC1 NM_001453.3(FOXC1): c.392C> T (p.Ser131Leu) single nucleotide variant Pathogenic rs104893957 GRCh38 Chromosome 6, 1610837: 1610837
4 FOXC1 NM_001453.3(FOXC1): c.378C> G (p.Ile126Met) single nucleotide variant Pathogenic rs104893958 GRCh37 Chromosome 6, 1611058: 1611058
5 FOXC1 NM_001453.3(FOXC1): c.378C> G (p.Ile126Met) single nucleotide variant Pathogenic rs104893958 GRCh38 Chromosome 6, 1610823: 1610823
6 FOXC1 FOXC1, DUP duplication Pathogenic
7 FOXC1 FOXC1, 22-BP INS, NT26 insertion Pathogenic
8 FOXC1 NM_001453.3(FOXC1): c.261C> G (p.Ile87Met) single nucleotide variant Pathogenic rs104893954 GRCh37 Chromosome 6, 1610941: 1610941
9 FOXC1 NM_001453.3(FOXC1): c.261C> G (p.Ile87Met) single nucleotide variant Pathogenic rs104893954 GRCh38 Chromosome 6, 1610706: 1610706
10 FOXC1 NM_001453.3(FOXC1): c.889C> T (p.Pro297Ser) single nucleotide variant Benign rs79691946 GRCh37 Chromosome 6, 1611569: 1611569
11 FOXC1 NM_001453.3(FOXC1): c.889C> T (p.Pro297Ser) single nucleotide variant Benign rs79691946 GRCh38 Chromosome 6, 1611334: 1611334
12 FOXC1 NM_001453.2(FOXC1): c.349delG (p.Asp117Thrfs) deletion Pathogenic rs1554100953 GRCh37 Chromosome 6, 1611029: 1611029
13 FOXC1 NM_001453.2(FOXC1): c.349delG (p.Asp117Thrfs) deletion Pathogenic rs1554100953 GRCh38 Chromosome 6, 1610794: 1610794

Expression for Anterior Segment Dysgenesis 3

Search GEO for disease gene expression data for Anterior Segment Dysgenesis 3.

Pathways for Anterior Segment Dysgenesis 3

GO Terms for Anterior Segment Dysgenesis 3

Sources for Anterior Segment Dysgenesis 3

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
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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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