MCID: ANT069
MIFTS: 23

Anterior Segment Dysgenesis 7, with Sclerocornea

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Anterior Segment Dysgenesis 7, with Sclerocornea

MalaCards integrated aliases for Anterior Segment Dysgenesis 7, with Sclerocornea:

Name: Anterior Segment Dysgenesis 7, with Sclerocornea 54
Sclerocornea with Other Ocular Anomalies 12 24 71
Corneal Opacification with Other Ocular Anomalies 71 69
Corneal Opacification and Other Ocular Anomalies 12 24
Anterior Segment Dysgenesis 7 71 29
Copoa 24 71
Congenital Cataract Microcornea with Corneal Opacity 56
Ccmco 56
Asgd7 71

Characteristics:

Orphanet epidemiological data:

56
congenital cataract microcornea with corneal opacity
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Miscellaneous:
variable features may be present

Inheritance:
autosomal recessive


HPO:

32
anterior segment dysgenesis 7, with sclerocornea:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


Summaries for Anterior Segment Dysgenesis 7, with Sclerocornea

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). In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012). Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007). (269400)

MalaCards based summary : Anterior Segment Dysgenesis 7, with Sclerocornea, is also known as sclerocornea with other ocular anomalies, and has symptoms including microphthalmia, buphthalmos and sclerocornea. An important gene associated with Anterior Segment Dysgenesis 7, with Sclerocornea is PXDN (Peroxidasin). Affiliated tissues include eye, and related phenotype is vision/eye.

UniProtKB/Swiss-Prot : 71 Anterior segment dysgenesis 7: 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. ASGD7 is an autosomal recessive disease.

Disease Ontology : 12 A sclerocornea that has material basis in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25 and is characterized by corneal opacifiaction, cataract, microcornea, microphthalmia, and anterior segment dysgenesis.

Related Diseases for Anterior Segment Dysgenesis 7, with Sclerocornea

Symptoms & Phenotypes for Anterior Segment Dysgenesis 7, with Sclerocornea

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
anterior segment dysgenesis
microphthalmia
buphthalmos
increased intraocular pressure
iridocorneal adhesion
more

Clinical features from OMIM:

269400

Human phenotypes related to Anterior Segment Dysgenesis 7, with Sclerocornea:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 microphthalmia 32 occasional (7.5%) HP:0000568
2 buphthalmos 32 occasional (7.5%) HP:0000557
3 sclerocornea 32 HP:0000647
4 microcornea 32 occasional (7.5%) HP:0000482
5 cataract 32 occasional (7.5%) HP:0000518
6 increased intraocular pressure 32 occasional (7.5%) HP:0007906
7 anterior segment dysgenesis 32 occasional (7.5%) HP:0007700
8 abnormality of the outer ear 32 HP:0000356

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis 7, with Sclerocornea:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 ATOH7 PXDN

Drugs & Therapeutics for Anterior Segment Dysgenesis 7, with Sclerocornea

Search Clinical Trials , NIH Clinical Center for Anterior Segment Dysgenesis 7, with Sclerocornea

Genetic Tests for Anterior Segment Dysgenesis 7, with Sclerocornea

Genetic tests related to Anterior Segment Dysgenesis 7, with Sclerocornea:

id Genetic test Affiliating Genes
1 Anterior Segment Dysgenesis 7 29
2 Corneal Opacification and Other Ocular Anomalies 24 PXDN

Anatomical Context for Anterior Segment Dysgenesis 7, with Sclerocornea

MalaCards organs/tissues related to Anterior Segment Dysgenesis 7, with Sclerocornea:

39
Eye

Publications for Anterior Segment Dysgenesis 7, with Sclerocornea

Variations for Anterior Segment Dysgenesis 7, with Sclerocornea

UniProtKB/Swiss-Prot genetic disease variations for Anterior Segment Dysgenesis 7, with Sclerocornea:

71
id Symbol AA change Variation ID SNP ID
1 PXDN p.Arg880Cys VAR_071389 rs587777572

ClinVar genetic disease variations for Anterior Segment Dysgenesis 7, with Sclerocornea:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PXDN NM_012293.2(PXDN): c.2568delC (p.Cys857Alafs) deletion Pathogenic rs587777571 GRCh37 Chromosome 2, 1652984: 1652984
2 PXDN NM_012293.2(PXDN): c.2638C> T (p.Arg880Cys) single nucleotide variant Pathogenic rs587777572 GRCh37 Chromosome 2, 1652914: 1652914
3 PXDN NM_012293.2(PXDN): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs369535598 GRCh37 Chromosome 2, 1670256: 1670256
4 PXDN NM_012293.2(PXDN): c.2375_2397del23 (p.Leu792Hisfs) deletion Pathogenic rs587777573 GRCh37 Chromosome 2, 1653155: 1653177

Expression for Anterior Segment Dysgenesis 7, with Sclerocornea

Search GEO for disease gene expression data for Anterior Segment Dysgenesis 7, with Sclerocornea.

Pathways for Anterior Segment Dysgenesis 7, with Sclerocornea

GO Terms for Anterior Segment Dysgenesis 7, with Sclerocornea

Sources for Anterior Segment Dysgenesis 7, with Sclerocornea

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
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42 MeSH
43 MESH via Orphanet
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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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