ASGD3
MCID: ANT084
MIFTS: 36

Anterior Segment Dysgenesis 3 (ASGD3)

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

Aliases & Classifications for Anterior Segment Dysgenesis 3

MalaCards integrated aliases for Anterior Segment Dysgenesis 3:

Name: Anterior Segment Dysgenesis 3 57 12 73 29 6 15
Iridogoniodysgenesis, Type 1 57 73 13 39 71
Irid1 57 73 54
Iridogoniodysgenesis Anomaly, Autosomal Dominant 57 73
Glaucoma Iridogoniodysplasia, Familial 57 73
Iris Hypoplasia with Glaucoma 57 73
Asgd3 57 73
Igda 57 73
Iridogoniodysgenesis Anomaly, Autosomal Dominant; Igda 57
Anterior Segment Dysgenesis 3, Multiple Subtypes 57
Iridogoniodysgenesis, Type 1; Irid1 57
Iridogoniodysgenesis Anomaly 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable features may be present


HPO:

31
anterior segment dysgenesis 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080608
OMIM® 57 601631
OMIM Phenotypic Series 57 PS107250
MeSH 44 D005124
UMLS 71 C1866560

Summaries for Anterior Segment Dysgenesis 3

OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Anterior Segment Dysgenesis 3, also known as iridogoniodysgenesis, type 1, is related to anterior segment dysgenesis 4 and iris hypoplasia with glaucoma. 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

Disease Ontology : 12 An anterior segment dysgenesis that has material basis in heterozygous mutation in the FOXC1 gene on chromosome 6p25.

UniProtKB/Swiss-Prot : 73 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 cerebellar vermis hypoplasia 31 occasional (7.5%) HP:0001320
2 enlarged cisterna magna 31 occasional (7.5%) HP:0002280
3 glaucoma 31 HP:0000501
4 posterior embryotoxon 31 HP:0000627
5 ectopia pupillae 31 HP:0009918
6 peters anomaly 31 HP:0000659
7 hypoplastic iris stroma 31 HP:0007990
8 rieger anomaly 31 HP:0000558
9 axenfeld anomaly 31 HP:0001492
10 abnormal iris vasculature 31 HP:0007905

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
posterior embryotoxon
peters anomaly
rieger anomaly
axenfeld anomaly
abnormal iris vasculature
more
Neurologic Central Nervous System:
cerebellar vermis hypoplasia (in some patients)
enlarged cisterna magna (in some patients)

Clinical features from OMIM®:

601631 (Updated 05-Mar-2021)

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 29 FOXC1

Anatomical Context for Anterior Segment Dysgenesis 3

MalaCards organs/tissues related to Anterior Segment Dysgenesis 3:

40
Eye

Publications for Anterior Segment Dysgenesis 3

Articles related to Anterior Segment Dysgenesis 3:

(show all 24)
# Title Authors PMID Year
1
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. 57 6 54
9792859 1998
2
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. 57 6
19668217 2009
3
Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis. 57 6
19793056 2009
4
Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. 6 57
12036988 2002
5
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. 6 57
11170889 2001
6
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. 57 6
11007653 2000
7
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. 57 6
9620769 1998
8
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. 57
27839872 2016
9
A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. 57
18694899 2008
10
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. 57
12614756 2003
11
Anterior segment dysgenesis and the developmental glaucomas are complex traits. 57
12015278 2002
12
Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly. 57
9382099 1997
13
Identification of the human chromosomal region containing the iridogoniodysgenesis anomaly locus by genomic-mismatch scanning. 57
9245991 1997
14
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. 57
8940278 1996
15
Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. 57
8942889 1996
16
Distal deletion of the short arm of chromosome 6. 57
2309766 1990
17
Autosomal dominant iridogoniodysgenesis: genetic features. 57
6839205 1983
18
Autosomal dominant iridogoniodysgenesis. A genetic and clinical study. 57
7171775 1982
19
Familial glaucoma. In nine generations of a South Hampshire family. 57
4421809 1974
20
Dominant goniodysgenesis with late congenital glaucoma. A re-examination of Berg's pedigree. 57
4624765 1972
21
Familial hypoplasia of the iris stroma associated with glaucoma. 57
5804028 1969
22
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). 61
32475988 2020
23
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders. 61
31848469 2020
24
An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development. 54
10507730 1999

Variations for Anterior Segment Dysgenesis 3

ClinVar genetic disease variations for Anterior Segment Dysgenesis 3:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXC1 FOXC1, 11-BP DEL Deletion Pathogenic 8451
2 FOXC1 NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu) SNV Pathogenic 8452 rs104893957 6:1611072-1611072 6:1610837-1610837
3 FOXC1 NM_001453.3(FOXC1):c.378C>G (p.Ile126Met) SNV Pathogenic 8453 rs104893958 6:1611058-1611058 6:1610823-1610823
4 FOXC1 FOXC1, DUP Duplication Pathogenic 8456
5 FOXC1 FOXC1, 22-BP INS, NT26 Insertion Pathogenic 8457
6 FOXC1 NM_001453.3(FOXC1):c.261C>G (p.Ile87Met) SNV Pathogenic 8459 rs104893954 6:1610941-1610941 6:1610706-1610706
7 FOXC1 NM_001453.3(FOXC1):c.349del (p.Asp117fs) Deletion Pathogenic 495293 rs1554100953 6:1611027-1611027 6:1610792-1610792
8 GMDS GRCh37/hg19 6p25.3(chr6:1318643-1837594)x3 copy number gain Pathogenic 973776 6:1307929-1856280
9 FOXC1 NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) SNV Pathogenic 30156 rs79691946 6:1611569-1611569 6:1611334-1611334
10 FOXC1 NM_001453.3(FOXC1):c.1157del (p.Gly386fs) Deletion Likely pathogenic 992653 6:1611832-1611832 6:1611597-1611597
11 FOXC1 NM_001453.3(FOXC1):c.532G>C (p.Asp178His) SNV Uncertain significance 469653 rs751970827 6:1611212-1611212 6:1610977-1610977
12 FOXC1 NM_001453.3(FOXC1):c.89C>T (p.Ala30Val) SNV Uncertain significance 973775 6:1610769-1610769 6:1610534-1610534
13 FOXC1 NM_001453.3(FOXC1):c.-244C>T SNV Benign 183250 rs185790394 6:1610437-1610437 6:1610202-1610202

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

73
# 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

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

Biological processes related to Anterior Segment Dysgenesis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 somitogenesis GO:0001756 9.26 FOXC1 DLL1
2 cellular response to epidermal growth factor stimulus GO:0071364 9.16 FOXC1 DUSP22
3 positive regulation of DNA binding GO:0043388 8.96 IRF4 FOXC1
4 Notch signaling pathway GO:0007219 8.8 GMDS FOXC1 DLL1

Molecular functions related to Anterior Segment Dysgenesis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.92 IRF4 FOXQ1 FOXF2 FOXC1

Sources for Anterior Segment Dysgenesis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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