MCID: ANT083
MIFTS: 24

Anterior Segment Dysgenesis 7

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

Aliases & Classifications for Anterior Segment Dysgenesis 7

MalaCards integrated aliases for Anterior Segment Dysgenesis 7:

Name: Anterior Segment Dysgenesis 7 57 75 29 6
Corneal Opacification with Other Ocular Anomalies 57 75 73
Sclerocornea with Other Ocular Anomalies 57 12 75
Asgd7 57 75
Copoa 57 75
Corneal Opacification with Other Ocular Anomalies; Copoa 57
Dysgenesis, Anterior Segment, with Sclerocornea , Type 7 40
Congenital Cataract Microcornea with Corneal Opacity 59
Anterior Segment Dysgenesis 7, with Sclerocornea 57
Corneal Opacification and Other Ocular Anomalies 12
Ccmco 59

Characteristics:

Orphanet epidemiological data:

59
congenital cataract microcornea with corneal opacity
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable features may be present


HPO:

32
anterior segment dysgenesis 7:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


Summaries for Anterior Segment Dysgenesis 7

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). 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, is also known as corneal opacification with other ocular anomalies. An important gene associated with Anterior Segment Dysgenesis 7 is PXDN (Peroxidasin). Affiliated tissues include eye, and related phenotypes are abnormality of the outer ear and microcornea

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.

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Anterior Segment Dysgenesis 7

Symptoms & Phenotypes for Anterior Segment Dysgenesis 7

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
corneal opacification, partial or total
sclerocornea
cataract
microcornea
iridocorneal dysgenesis
more

Clinical features from OMIM:

269400

Human phenotypes related to Anterior Segment Dysgenesis 7:

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

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 ATOH7 PXDN

Drugs & Therapeutics for Anterior Segment Dysgenesis 7

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

Genetic Tests for Anterior Segment Dysgenesis 7

Genetic tests related to Anterior Segment Dysgenesis 7:

# Genetic test Affiliating Genes
1 Anterior Segment Dysgenesis 7 29 PXDN

Anatomical Context for Anterior Segment Dysgenesis 7

MalaCards organs/tissues related to Anterior Segment Dysgenesis 7:

41
Eye

Publications for Anterior Segment Dysgenesis 7

Variations for Anterior Segment Dysgenesis 7

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

75
# Symbol AA change Variation ID SNP ID
1 PXDN p.Arg880Cys VAR_071389 rs587777572

ClinVar genetic disease variations for Anterior Segment Dysgenesis 7:

6
(show all 38)
# 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.2568delC (p.Cys857Alafs) deletion Pathogenic rs587777571 GRCh38 Chromosome 2, 1649212: 1649212
3 PXDN NM_012293.2(PXDN): c.2638C> T (p.Arg880Cys) single nucleotide variant Pathogenic rs587777572 GRCh37 Chromosome 2, 1652914: 1652914
4 PXDN NM_012293.2(PXDN): c.2638C> T (p.Arg880Cys) single nucleotide variant Pathogenic rs587777572 GRCh38 Chromosome 2, 1649142: 1649142
5 PXDN NM_012293.2(PXDN): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs369535598 GRCh37 Chromosome 2, 1670256: 1670256
6 PXDN NM_012293.2(PXDN): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs369535598 GRCh38 Chromosome 2, 1666484: 1666484
7 PXDN NM_012293.2(PXDN): c.2375_2397del23 (p.Leu792Hisfs) deletion Pathogenic rs587777573 GRCh37 Chromosome 2, 1653155: 1653177
8 PXDN NM_012293.2(PXDN): c.2375_2397del23 (p.Leu792Hisfs) deletion Pathogenic rs587777573 GRCh38 Chromosome 2, 1649383: 1649405
9 PXDN NM_012293.2(PXDN): c.3190G> A (p.Ala1064Thr) single nucleotide variant Benign rs202132697 GRCh37 Chromosome 2, 1652362: 1652362
10 PXDN NM_012293.2(PXDN): c.3190G> A (p.Ala1064Thr) single nucleotide variant Benign rs202132697 GRCh38 Chromosome 2, 1648590: 1648590
11 PXDN NM_012293.2(PXDN): c.3198C> T (p.Ala1066=) single nucleotide variant Benign rs115076385 GRCh38 Chromosome 2, 1648582: 1648582
12 PXDN NM_012293.2(PXDN): c.3198C> T (p.Ala1066=) single nucleotide variant Benign rs115076385 GRCh37 Chromosome 2, 1652354: 1652354
13 PXDN NM_012293.2(PXDN): c.3093C> T (p.Tyr1031=) single nucleotide variant Benign rs6752525 GRCh38 Chromosome 2, 1648687: 1648687
14 PXDN NM_012293.2(PXDN): c.3093C> T (p.Tyr1031=) single nucleotide variant Benign rs6752525 GRCh37 Chromosome 2, 1652459: 1652459
15 PXDN NM_012293.2(PXDN): c.2661C> T (p.Ser887=) single nucleotide variant Benign rs1863134 GRCh38 Chromosome 2, 1649119: 1649119
16 PXDN NM_012293.2(PXDN): c.2661C> T (p.Ser887=) single nucleotide variant Benign rs1863134 GRCh37 Chromosome 2, 1652891: 1652891
17 PXDN NM_012293.2(PXDN): c.1946+6G> A single nucleotide variant Benign rs73178792 GRCh38 Chromosome 2, 1654394: 1654394
18 PXDN NM_012293.2(PXDN): c.1946+6G> A single nucleotide variant Benign rs73178792 GRCh37 Chromosome 2, 1658166: 1658166
19 PXDN NM_012293.2(PXDN): c.2821G> A (p.Val941Met) single nucleotide variant Benign rs189824177 GRCh38 Chromosome 2, 1648959: 1648959
20 PXDN NM_012293.2(PXDN): c.2821G> A (p.Val941Met) single nucleotide variant Benign rs189824177 GRCh37 Chromosome 2, 1652731: 1652731
21 PXDN NM_012293.2(PXDN): c.4342G> A (p.Val1448Met) single nucleotide variant Uncertain significance rs577701184 GRCh38 Chromosome 2, 1634302: 1634302
22 PXDN NM_012293.2(PXDN): c.4342G> A (p.Val1448Met) single nucleotide variant Uncertain significance rs577701184 GRCh37 Chromosome 2, 1638074: 1638074
23 PXDN NM_012293.2(PXDN): c.3593G> A (p.Arg1198Gln) single nucleotide variant Benign rs6723697 GRCh38 Chromosome 2, 1648187: 1648187
24 PXDN NM_012293.2(PXDN): c.3593G> A (p.Arg1198Gln) single nucleotide variant Benign rs6723697 GRCh37 Chromosome 2, 1651959: 1651959
25 PXDN NM_012293.2(PXDN): c.2827C> T (p.Arg943Trp) single nucleotide variant Likely benign rs200127189 GRCh38 Chromosome 2, 1648953: 1648953
26 PXDN NM_012293.2(PXDN): c.2827C> T (p.Arg943Trp) single nucleotide variant Likely benign rs200127189 GRCh37 Chromosome 2, 1652725: 1652725
27 PXDN NM_012293.2(PXDN): c.1380G> A (p.Pro460=) single nucleotide variant Benign rs191647762 GRCh38 Chromosome 2, 1664986: 1664986
28 PXDN NM_012293.2(PXDN): c.1380G> A (p.Pro460=) single nucleotide variant Benign rs191647762 GRCh37 Chromosome 2, 1668758: 1668758
29 PXDN NM_012293.2(PXDN): c.1182T> C (p.Ser394=) single nucleotide variant Benign rs76057922 GRCh38 Chromosome 2, 1666323: 1666323
30 PXDN NM_012293.2(PXDN): c.1182T> C (p.Ser394=) single nucleotide variant Benign rs76057922 GRCh37 Chromosome 2, 1670095: 1670095
31 PXDN NM_012293.2(PXDN): c.1018+9C> T single nucleotide variant Benign rs182152963 GRCh38 Chromosome 2, 1673634: 1673634
32 PXDN NM_012293.2(PXDN): c.1018+9C> T single nucleotide variant Benign rs182152963 GRCh37 Chromosome 2, 1677406: 1677406
33 PXDN NM_012293.2(PXDN): c.831C> A (p.Ile277=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 1676944: 1676944
34 PXDN NM_012293.2(PXDN): c.831C> A (p.Ile277=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 1680716: 1680716
35 PXDN NM_012293.2(PXDN): c.1113G> A (p.Pro371=) single nucleotide variant Benign rs200996147 GRCh37 Chromosome 2, 1670164: 1670164
36 PXDN NM_012293.2(PXDN): c.1113G> A (p.Pro371=) single nucleotide variant Benign rs200996147 GRCh38 Chromosome 2, 1666392: 1666392
37 PXDN NM_012293.2(PXDN): c.2394G> A (p.Val798=) single nucleotide variant Likely benign rs548975446 GRCh37 Chromosome 2, 1653158: 1653158
38 PXDN NM_012293.2(PXDN): c.2394G> A (p.Val798=) single nucleotide variant Likely benign rs548975446 GRCh38 Chromosome 2, 1649386: 1649386

Expression for Anterior Segment Dysgenesis 7

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

Pathways for Anterior Segment Dysgenesis 7

GO Terms for Anterior Segment Dysgenesis 7

Sources for Anterior Segment Dysgenesis 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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