MCID: ANT074
MIFTS: 22

Anterior Segment Dysgenesis 5, Multiple Subtypes

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

Aliases & Classifications for Anterior Segment Dysgenesis 5, Multiple Subtypes

MalaCards integrated aliases for Anterior Segment Dysgenesis 5, Multiple Subtypes:

Name: Anterior Segment Dysgenesis 5, Multiple Subtypes 54
Anterior Segment Dysgenesis 5 71
Asgd5 71

Characteristics:

HPO:

32
anterior segment dysgenesis 5, multiple subtypes:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Anterior Segment Dysgenesis 5, 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). Patients with ASGD5 have been reported with the Peters anomaly, Axenfeld anomaly, and Rieger anomaly subtypes. 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). It occurs as an isolated ocular abnormality or in association with other ocular defects. 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). (604229)

MalaCards based summary : Anterior Segment Dysgenesis 5, Multiple Subtypes, also known as anterior segment dysgenesis 5, is related to foveal hypoplasia 1 and isolated microphthalmia, and has symptoms including nystagmus, strabismus and peters anomaly. An important gene associated with Anterior Segment Dysgenesis 5, Multiple Subtypes is PAX6 (Paired Box 6). Affiliated tissues include eye, and related phenotype is neoplasm.

UniProtKB/Swiss-Prot : 71 Anterior segment dysgenesis 5: 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.

Related Diseases for Anterior Segment Dysgenesis 5, 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 5, Multiple Subtypes via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 foveal hypoplasia 1 9.7 CYP1B1 PAX6
2 isolated microphthalmia 9.7 CYP1B1 PAX6
3 glaucoma 3a, primary open angle, congenital, juvenile, or adult onset 9.6 CYP1B1 PAX6
4 lactocele 9.6 CYP1B1 PAX6
5 type i ehlers-danlos syndrome 9.5 CYP1B1 PAX6
6 breast-ovarian cancer, familial, 2 9.4 CYP1B1 PAX6
7 histiocytic and dendritic cell cancer 9.2 CYP1B1 PAX6

Graphical network of the top 20 diseases related to Anterior Segment Dysgenesis 5, Multiple Subtypes:



Diseases related to Anterior Segment Dysgenesis 5, Multiple Subtypes

Symptoms & Phenotypes for Anterior Segment Dysgenesis 5, Multiple Subtypes

Clinical features from OMIM:

604229

Human phenotypes related to Anterior Segment Dysgenesis 5, Multiple Subtypes:

32
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 very rare (1%) HP:0000639
2 strabismus 32 very rare (1%) HP:0000486
3 peters anomaly 32 HP:0000659
4 corneal opacity 32 hallmark (90%) HP:0007957
5 congenital glaucoma 32 frequent (33%) HP:0001087

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis 5, Multiple Subtypes:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 CYP1B1 PAX6

Drugs & Therapeutics for Anterior Segment Dysgenesis 5, Multiple Subtypes

Search Clinical Trials , NIH Clinical Center for Anterior Segment Dysgenesis 5, Multiple Subtypes

Genetic Tests for Anterior Segment Dysgenesis 5, Multiple Subtypes

Anatomical Context for Anterior Segment Dysgenesis 5, Multiple Subtypes

MalaCards organs/tissues related to Anterior Segment Dysgenesis 5, Multiple Subtypes:

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Eye

Publications for Anterior Segment Dysgenesis 5, Multiple Subtypes

Variations for Anterior Segment Dysgenesis 5, Multiple Subtypes

UniProtKB/Swiss-Prot genetic disease variations for Anterior Segment Dysgenesis 5, Multiple Subtypes:

71
id Symbol AA change Variation ID SNP ID
1 PAX6 p.Arg26Gly VAR_003810 rs121907913
2 PAX6 p.Val53Asp VAR_008700
3 PAX6 p.Ser363Pro VAR_017544

ClinVar genetic disease variations for Anterior Segment Dysgenesis 5, Multiple Subtypes:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_001604.5(PAX6): c.161T> A (p.Val54Asp) single nucleotide variant Pathogenic rs121907921 GRCh37 Chromosome 11, 31823441: 31823441
2 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh37 Chromosome 2, 38302361: 38302361
3 CYP1B1 NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs) duplication Pathogenic rs587778873 GRCh37 Chromosome 2, 38298288: 38298297
4 PAX6 NM_000280.4(PAX6): c.152G> T (p.Gly51Val) single nucleotide variant Pathogenic rs587778874 GRCh37 Chromosome 11, 31823314: 31823314
5 CYP1B1 NM_000104.3(CYP1B1): c.1063_1075delCGAGTGCAGGCAG (p.Arg355Asnfs) deletion Pathogenic rs1064792896 GRCh38 Chromosome 2, 38071279: 38071291

Expression for Anterior Segment Dysgenesis 5, Multiple Subtypes

Search GEO for disease gene expression data for Anterior Segment Dysgenesis 5, Multiple Subtypes.

Pathways for Anterior Segment Dysgenesis 5, Multiple Subtypes

GO Terms for Anterior Segment Dysgenesis 5, Multiple Subtypes

Biological processes related to Anterior Segment Dysgenesis 5, Multiple Subtypes according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 8.96 CYP1B1 PAX6
2 visual perception GO:0007601 8.62 CYP1B1 PAX6

Sources for Anterior Segment Dysgenesis 5, Multiple Subtypes

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