ASGD7
MCID: ANT083
MIFTS: 34

Anterior Segment Dysgenesis 7 (ASGD7)

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

Aliases & Classifications for Anterior Segment Dysgenesis 7

MalaCards integrated aliases for Anterior Segment Dysgenesis 7:

Name: Anterior Segment Dysgenesis 7 57 12 72 29 6
Corneal Opacification with Other Ocular Anomalies 57 72 70
Anterior Segment Dysgenesis 7, with Sclerocornea 57 29
Sclerocornea with Other Ocular Anomalies 57 72
Asgd7 57 72
Copoa 57 72
Corneal Opacification with Other Ocular Anomalies; Copoa 57
Dysgenesis, Anterior Segment, with Sclerocornea , Type 7 39
Congenital Cataract Microcornea with Corneal Opacity 58
Ccmco 58

Characteristics:

Orphanet epidemiological data:

58
congenital cataract microcornea with corneal opacity
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable features may be present


HPO:

31
anterior segment dysgenesis 7:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0080612
OMIM® 57 269400
OMIM Phenotypic Series 57 PS107250
MeSH 44 D003316
Orphanet 58 ORPHA289499
UMLS 70 C3151617

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) (Updated 20-May-2021)

MalaCards based summary : Anterior Segment Dysgenesis 7, also known as corneal opacification with other ocular anomalies, is related to anterior segment dysgenesis and cataract. An important gene associated with Anterior Segment Dysgenesis 7 is PXDN (Peroxidasin). Affiliated tissues include eye, and related phenotypes are cataract and microphthalmia

Disease Ontology : 12 An anterior segment dysgenesis that has material basis in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25.

UniProtKB/Swiss-Prot : 72 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

Graphical network of the top 20 diseases related to Anterior Segment Dysgenesis 7:



Diseases related to Anterior Segment Dysgenesis 7

Symptoms & Phenotypes for Anterior Segment Dysgenesis 7

Human phenotypes related to Anterior Segment Dysgenesis 7:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cataract 31 occasional (7.5%) HP:0000518
2 microphthalmia 31 occasional (7.5%) HP:0000568
3 buphthalmos 31 occasional (7.5%) HP:0000557
4 microcornea 31 occasional (7.5%) HP:0000482
5 ocular hypertension 31 occasional (7.5%) HP:0007906
6 sclerocornea 31 HP:0000647
7 abnormality of the outer ear 31 HP:0000356

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
cataract
microphthalmia
buphthalmos
sclerocornea
microcornea
more

Clinical features from OMIM®:

269400 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.8 ATOH7 PXDN SIX6

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
2 Anterior Segment Dysgenesis 7, with Sclerocornea 29

Anatomical Context for Anterior Segment Dysgenesis 7

MalaCards organs/tissues related to Anterior Segment Dysgenesis 7:

40
Eye

Publications for Anterior Segment Dysgenesis 7

Articles related to Anterior Segment Dysgenesis 7:

# Title Authors PMID Year
1
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity. 61 6 57
21474777 2011
2
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. 6 57
24939590 2015
3
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. 6 57
21907015 2011
4
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. 57
27839872 2016
5
Congenital corneal opacities - a surgical approach to nomenclature and classification. 57
17914436 2007
6
Hereditary sclerocornea. 57
3994576 1985
7
[The different types of sclerocornea, their hereditary modes and concomitant congenital malformations]. 57
4954614 1965

Variations for Anterior Segment Dysgenesis 7

ClinVar genetic disease variations for Anterior Segment Dysgenesis 7:

6 (show top 50) (show all 76)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SIX6 NM_007374.3(SIX6):c.547G>C (p.Asp183His) SNV Pathogenic 637058 rs1594631582 GRCh37: 14:60976663-60976663
GRCh38: 14:60509945-60509945
2 PXDN NM_012293.3(PXDN):c.2568del (p.Cys857fs) Deletion Pathogenic 140741 rs558163499 GRCh37: 2:1652984-1652984
GRCh38: 2:1649212-1649212
3 PXDN NM_012293.3(PXDN):c.2638C>T (p.Arg880Cys) SNV Pathogenic 140742 rs587777572 GRCh37: 2:1652914-1652914
GRCh38: 2:1649142-1649142
4 PXDN NM_012293.3(PXDN):c.2276C>T (p.Ser759Leu) SNV Pathogenic 694375 rs200731840 GRCh37: 2:1653276-1653276
GRCh38: 2:1649504-1649504
5 PXDN NM_012293.3(PXDN):c.4216_4225dup (p.Arg1409delinsProTer) Duplication Pathogenic 694376 rs1572110097 GRCh37: 2:1639274-1639275
GRCh38: 2:1635502-1635503
6 PXDN NM_012293.3(PXDN):c.2569del (p.Cys857fs) Deletion Pathogenic 694377 rs1408683917 GRCh37: 2:1652983-1652983
GRCh38: 2:1649211-1649211
7 PXDN NM_012293.3(PXDN):c.693_697dup (p.Val233fs) Duplication Pathogenic 694378 rs1572153816 GRCh37: 2:1683997-1683998
GRCh38: 2:1680225-1680226
8 PXDN NM_012293.3(PXDN):c.1A>G (p.Met1Val) SNV Pathogenic 694379 rs1387582423 GRCh37: 2:1748227-1748227
GRCh38: 2:1744455-1744455
9 PXDN NM_012293.3(PXDN):c.2375_2397del (p.Leu792fs) Deletion Pathogenic 140744 rs587777573 GRCh37: 2:1653155-1653177
GRCh38: 2:1649383-1649405
10 PXDN NM_012293.3(PXDN):c.1021C>T (p.Arg341Ter) SNV Pathogenic 140743 rs369535598 GRCh37: 2:1670256-1670256
GRCh38: 2:1666484-1666484
11 SIX6 NM_007374.3(SIX6):c.-227_572+235del Deletion Pathogenic 637953 GRCh37: 14:60975886-60976919
GRCh38: 14:60509168-60510201
12 PXDN NM_012293.3(PXDN):c.2098G>T (p.Gly700Ter) SNV Pathogenic 984974 GRCh37: 2:1657406-1657406
GRCh38: 2:1653634-1653634
13 PXDN NM_012293.3(PXDN):c.2353C>T (p.Arg785Ter) SNV Pathogenic 1029185 GRCh37: 2:1653199-1653199
GRCh38: 2:1649427-1649427
14 PXDN NM_012293.3(PXDN):c.841C>T (p.Arg281Ter) SNV Pathogenic 1032556 GRCh37: 2:1680706-1680706
GRCh38: 2:1676934-1676934
15 PXDN NM_012293.3(PXDN):c.1075G>A (p.Val359Ile) SNV Uncertain significance 1036682 GRCh37: 2:1670202-1670202
GRCh38: 2:1666430-1666430
16 PXDN NM_012293.3(PXDN):c.2214_2215delinsAA (p.His738_Gln739delinsGlnLys) Indel Uncertain significance 1054280 GRCh37: 2:1653337-1653338
GRCh38: 2:1649565-1649566
17 PXDN NM_012293.3(PXDN):c.2569T>C (p.Cys857Arg) SNV Uncertain significance 988077 GRCh37: 2:1652983-1652983
GRCh38: 2:1649211-1649211
18 PXDN NM_012293.3(PXDN):c.3292C>T (p.Leu1098Phe) SNV Uncertain significance 998974 GRCh37: 2:1652260-1652260
GRCh38: 2:1648488-1648488
19 PXDN NM_012293.3(PXDN):c.2369A>T (p.His790Leu) SNV Uncertain significance 1018179 GRCh37: 2:1653183-1653183
GRCh38: 2:1649411-1649411
20 PXDN NM_012293.3(PXDN):c.31C>T (p.Arg11Cys) SNV Uncertain significance 839270 GRCh37: 2:1748197-1748197
GRCh38: 2:1744425-1744425
21 PXDN NM_012293.3(PXDN):c.3949G>A (p.Glu1317Lys) SNV Uncertain significance 940832 GRCh37: 2:1647143-1647143
GRCh38: 2:1643371-1643371
22 PXDN NM_012293.3(PXDN):c.701C>T (p.Ala234Val) SNV Uncertain significance 943641 GRCh37: 2:1683994-1683994
GRCh38: 2:1680222-1680222
23 PXDN NM_012293.3(PXDN):c.2999C>G (p.Thr1000Arg) SNV Uncertain significance 977092 GRCh37: 2:1652553-1652553
GRCh38: 2:1648781-1648781
24 PXDN NM_012293.3(PXDN):c.3655G>T (p.Val1219Leu) SNV Uncertain significance 567848 rs372395551 GRCh37: 2:1648478-1648478
GRCh38: 2:1644706-1644706
25 PXDN NM_012293.3(PXDN):c.1657G>A (p.Glu553Lys) SNV Uncertain significance 569961 rs755097189 GRCh37: 2:1665867-1665867
GRCh38: 2:1662095-1662095
26 PXDN NM_012293.3(PXDN):c.1680+6C>T SNV Uncertain significance 574233 rs930569592 GRCh37: 2:1665838-1665838
GRCh38: 2:1662066-1662066
27 PXDN NM_012293.3(PXDN):c.1964A>T (p.Asn655Ile) SNV Uncertain significance 581630 rs773445177 GRCh37: 2:1657540-1657540
GRCh38: 2:1653768-1653768
28 PXDN NM_012293.3(PXDN):c.1498T>C (p.Tyr500His) SNV Uncertain significance 659976 rs368890003 GRCh37: 2:1667446-1667446
GRCh38: 2:1663674-1663674
29 PXDN NM_012293.3(PXDN):c.4342G>A (p.Val1448Met) SNV Uncertain significance 471916 rs577701184 GRCh37: 2:1638074-1638074
GRCh38: 2:1634302-1634302
30 PXDN NM_012293.3(PXDN):c.19G>T (p.Gly7Cys) SNV Likely benign 707047 rs775995985 GRCh37: 2:1748209-1748209
GRCh38: 2:1744437-1744437
31 PXDN NM_012293.3(PXDN):c.3559G>A (p.Asp1187Asn) SNV Likely benign 707215 rs201763004 GRCh37: 2:1651993-1651993
GRCh38: 2:1648221-1648221
32 PXDN NM_012293.3(PXDN):c.2827C>T (p.Arg943Trp) SNV Likely benign 471914 rs200127189 GRCh37: 2:1652725-1652725
GRCh38: 2:1648953-1648953
33 PXDN NM_012293.3(PXDN):c.3660G>A (p.Glu1220=) SNV Likely benign 798001 rs368223046 GRCh37: 2:1648473-1648473
GRCh38: 2:1644701-1644701
34 PXDN NM_012293.3(PXDN):c.3147G>A (p.Glu1049=) SNV Likely benign 726003 rs369851999 GRCh37: 2:1652405-1652405
GRCh38: 2:1648633-1648633
35 PXDN NM_012293.3(PXDN):c.612G>A (p.Ala204=) SNV Likely benign 729776 rs748974745 GRCh37: 2:1684083-1684083
GRCh38: 2:1680311-1680311
36 PXDN NM_012293.3(PXDN):c.1827C>T (p.Leu609=) SNV Likely benign 737663 rs202108023 GRCh37: 2:1664663-1664663
GRCh38: 2:1660891-1660891
37 PXDN NM_012293.3(PXDN):c.831C>A (p.Ile277=) SNV Likely benign 471917 rs1553362974 GRCh37: 2:1680716-1680716
GRCh38: 2:1676944-1676944
38 PXDN NM_012293.3(PXDN):c.2394G>A (p.Val798=) SNV Likely benign 539291 rs548975446 GRCh37: 2:1653158-1653158
GRCh38: 2:1649386-1649386
39 PXDN NM_012293.3(PXDN):c.1422C>T (p.Ser474=) SNV Likely benign 767082 rs112778384 GRCh37: 2:1667522-1667522
GRCh38: 2:1663750-1663750
40 PXDN NM_012293.3(PXDN):c.2787G>A (p.Leu929=) SNV Likely benign 767425 rs753095408 GRCh37: 2:1652765-1652765
GRCh38: 2:1648993-1648993
41 PXDN NM_012293.3(PXDN):c.1112C>T (p.Pro371Leu) SNV Likely benign 771087 rs201592851 GRCh37: 2:1670165-1670165
GRCh38: 2:1666393-1666393
42 PXDN NM_012293.3(PXDN):c.3064G>A (p.Val1022Met) SNV Benign 772109 rs79322931 GRCh37: 2:1652488-1652488
GRCh38: 2:1648716-1648716
43 PXDN NM_012293.3(PXDN):c.3165C>T (p.Pro1055=) SNV Benign 772146 rs75454260 GRCh37: 2:1652387-1652387
GRCh38: 2:1648615-1648615
44 PXDN NM_012293.3(PXDN):c.2640C>G (p.Arg880=) SNV Benign 772147 rs79442404 GRCh37: 2:1652912-1652912
GRCh38: 2:1649140-1649140
45 PXDN NM_012293.3(PXDN):c.3906C>T (p.Asp1302=) SNV Benign 772168 rs111450110 GRCh37: 2:1647186-1647186
GRCh38: 2:1643414-1643414
46 PXDN NM_012293.3(PXDN):c.1656C>T (p.Pro552=) SNV Benign 772385 rs200276592 GRCh37: 2:1665868-1665868
GRCh38: 2:1662096-1662096
47 PXDN NM_012293.3(PXDN):c.2385G>A (p.Pro795=) SNV Benign 772780 rs373265335 GRCh37: 2:1653167-1653167
GRCh38: 2:1649395-1649395
48 PXDN NM_012293.3(PXDN):c.3175G>A (p.Ala1059Thr) SNV Benign 774097 rs186563338 GRCh37: 2:1652377-1652377
GRCh38: 2:1648605-1648605
49 PXDN NM_012293.3(PXDN):c.969C>T (p.Ala323=) SNV Benign 787553 rs61746899 GRCh37: 2:1677464-1677464
GRCh38: 2:1673692-1673692
50 PXDN NM_012293.3(PXDN):c.481G>A (p.Glu161Lys) SNV Benign 771076 rs151054868 GRCh37: 2:1687859-1687859
GRCh38: 2:1684087-1684087

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

72
# Symbol AA change Variation ID SNP ID
1 PXDN p.Arg880Cys VAR_071389 rs587777572

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

Molecular functions related to Anterior Segment Dysgenesis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 8.62 SIX6 ATOH7

Sources for Anterior Segment Dysgenesis 7

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....