MCID: ANT072
MIFTS: 21

Anterior Segment Dysgenesis 3, Multiple Subtypes

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

Aliases & Classifications for Anterior Segment Dysgenesis 3, Multiple Subtypes

MalaCards integrated aliases for Anterior Segment Dysgenesis 3, Multiple Subtypes:

Name: Anterior Segment Dysgenesis 3, Multiple Subtypes 54
Iridogoniodysgenesis, Type 1 71 13 69
Iridogoniodysgenesis Anomaly, Autosomal Dominant 71
Glaucoma Iridogoniodysplasia, Familial 71
Anterior Segment Dysgenesis 3 71
Iris Hypoplasia with Glaucoma 71
Iridogoniodysgenesis Anomaly 71
Irid1 71
Asgd3 71
Igda 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
variable features may be present


HPO:

32
anterior segment dysgenesis 3, multiple subtypes:
Inheritance autosomal dominant inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 54 601631
MeSH 42 D005124

Summaries for Anterior Segment Dysgenesis 3, Multiple Subtypes

OMIM : 54
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, Multiple Subtypes, also known as iridogoniodysgenesis, type 1, is related to anterior segment dysgenesis 4 and interstitial granulomatous dermatitis with arthritis, and has symptoms including glaucoma, cerebellar vermis hypoplasia and hypoplasia of the iris. An important gene associated with Anterior Segment Dysgenesis 3, Multiple Subtypes is FOXC1 (Forkhead Box C1). Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 71 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, 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 3, Multiple Subtypes via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 4 10.9
2 interstitial granulomatous dermatitis with arthritis 10.8

Symptoms & Phenotypes for Anterior Segment Dysgenesis 3, Multiple Subtypes

Symptoms via clinical synopsis from OMIM:

54

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


Clinical features from OMIM:

601631

Human phenotypes related to Anterior Segment Dysgenesis 3, Multiple Subtypes:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 glaucoma 32 HP:0000501
2 cerebellar vermis hypoplasia 32 occasional (7.5%) HP:0001320
3 hypoplasia of the iris 32 HP:0007676
4 hypoplastic iris stroma 32 HP:0007990
5 abnormal iris vasculature 32 HP:0007905
6 enlarged cisterna magna 32 occasional (7.5%) HP:0002280

Drugs & Therapeutics for Anterior Segment Dysgenesis 3, Multiple Subtypes

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

Genetic Tests for Anterior Segment Dysgenesis 3, Multiple Subtypes

Genetic tests related to Anterior Segment Dysgenesis 3, Multiple Subtypes:

id Genetic test Affiliating Genes
1 Iridogoniodysgenesis, Type 1 24 FOXC1

Anatomical Context for Anterior Segment Dysgenesis 3, Multiple Subtypes

MalaCards organs/tissues related to Anterior Segment Dysgenesis 3, Multiple Subtypes:

39
Eye

Publications for Anterior Segment Dysgenesis 3, Multiple Subtypes

Variations for Anterior Segment Dysgenesis 3, Multiple Subtypes

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

71
id 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
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, Multiple Subtypes:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FOXC1 FOXC1, 11-BP DEL deletion Pathogenic
2 FOXC1 NM_001453.2(FOXC1): c.392C> T (p.Ser131Leu) single nucleotide variant Pathogenic rs104893957 GRCh37 Chromosome 6, 1611072: 1611072
3 FOXC1 NM_001453.2(FOXC1): c.378C> G (p.Ile126Met) single nucleotide variant Pathogenic rs104893958 GRCh37 Chromosome 6, 1611058: 1611058
4 FOXC1 FOXC1, DUP duplication Pathogenic
5 FOXC1 FOXC1, 22-BP INS, NT26 insertion Pathogenic
6 FOXC1 NM_001453.2(FOXC1): c.261C> G (p.Ile87Met) single nucleotide variant Pathogenic rs104893954 GRCh37 Chromosome 6, 1610941: 1610941

Expression for Anterior Segment Dysgenesis 3, Multiple Subtypes

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

Pathways for Anterior Segment Dysgenesis 3, Multiple Subtypes

GO Terms for Anterior Segment Dysgenesis 3, Multiple Subtypes

Sources for Anterior Segment Dysgenesis 3, 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
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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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