ASGD5
MCID: ANT085
MIFTS: 24

Anterior Segment Dysgenesis 5 (ASGD5)

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

Aliases & Classifications for Anterior Segment Dysgenesis 5

MalaCards integrated aliases for Anterior Segment Dysgenesis 5:

Name: Anterior Segment Dysgenesis 5 58 76
Anterior Segment Dysgenesis 5, Multiple Subtypes 58 6
Asgd5 58 76

Characteristics:

HPO:

33
anterior segment dysgenesis 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Anterior Segment Dysgenesis 5

OMIM : 58 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, also known as anterior segment dysgenesis 5, multiple subtypes, is related to anterior segment dysgenesis and coloboma, ocular, autosomal dominant. An important gene associated with Anterior Segment Dysgenesis 5 is PAX6 (Paired Box 6). Affiliated tissues include eye and bone, and related phenotypes are corneal opacity and developmental glaucoma

UniProtKB/Swiss-Prot : 76 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

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



Diseases related to Anterior Segment Dysgenesis 5

Symptoms & Phenotypes for Anterior Segment Dysgenesis 5

Human phenotypes related to Anterior Segment Dysgenesis 5:

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

Clinical features from OMIM:

604229

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis 5:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 CYP1B1 PAX6

Drugs & Therapeutics for Anterior Segment Dysgenesis 5

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

Genetic Tests for Anterior Segment Dysgenesis 5

Anatomical Context for Anterior Segment Dysgenesis 5

MalaCards organs/tissues related to Anterior Segment Dysgenesis 5:

42
Eye, Bone

Publications for Anterior Segment Dysgenesis 5

Articles related to Anterior Segment Dysgenesis 5:

# Title Authors Year
1
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. ( 10441571 )
1999

Variations for Anterior Segment Dysgenesis 5

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

76
# 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:

6 (show top 50) (show all 422)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_000280.4(PAX6): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs121907916 GRCh37 Chromosome 11, 31816253: 31816253
2 PAX6 NM_000280.4(PAX6): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs121907916 GRCh38 Chromosome 11, 31794705: 31794705
3 PAX6 NM_000280.4(PAX6): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs121907917 GRCh37 Chromosome 11, 31815627: 31815627
4 PAX6 NM_000280.4(PAX6): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs121907917 GRCh38 Chromosome 11, 31794079: 31794079
5 PAX6 NM_001604.5(PAX6): c.161T> A (p.Val54Asp) single nucleotide variant Pathogenic rs121907921 GRCh37 Chromosome 11, 31823441: 31823441
6 PAX6 NM_001604.5(PAX6): c.161T> A (p.Val54Asp) single nucleotide variant Pathogenic rs121907921 GRCh38 Chromosome 11, 31801893: 31801893
7 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic rs121907922 GRCh37 Chromosome 11, 31811483: 31811483
8 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic rs121907922 GRCh38 Chromosome 11, 31789935: 31789935
9 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh37 Chromosome 2, 38302361: 38302361
10 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh38 Chromosome 2, 38075218: 38075218
11 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 GRCh37 Chromosome 2, 38298394: 38298394
12 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 GRCh38 Chromosome 2, 38071251: 38071251
13 FREM1 NM_144966.5(FREM1): c.1493G> A (p.Arg498Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs184394424 GRCh37 Chromosome 9, 14842559: 14842559
14 FREM1 NM_144966.5(FREM1): c.1493G> A (p.Arg498Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs184394424 GRCh38 Chromosome 9, 14842561: 14842561
15 CYP1B1 NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs) duplication Pathogenic rs587778873 GRCh37 Chromosome 2, 38298288: 38298297
16 CYP1B1 NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs) duplication Pathogenic rs587778873 GRCh38 Chromosome 2, 38071145: 38071154
17 PAX6 NM_000280.4(PAX6): c.152G> T (p.Gly51Val) single nucleotide variant Pathogenic rs587778874 GRCh37 Chromosome 11, 31823314: 31823314
18 PAX6 NM_000280.4(PAX6): c.152G> T (p.Gly51Val) single nucleotide variant Pathogenic rs587778874 GRCh38 Chromosome 11, 31801766: 31801766
19 PAX6 NM_000280.4(PAX6): c.357+1G> A single nucleotide variant Pathogenic rs398123295 GRCh37 Chromosome 11, 31823108: 31823108
20 PAX6 NM_000280.4(PAX6): c.357+1G> A single nucleotide variant Pathogenic rs398123295 GRCh38 Chromosome 11, 31801560: 31801560
21 PTCH1 NM_000264.4(PTCH1): c.3947A> G (p.Tyr1316Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147067171 GRCh37 Chromosome 9, 98209591: 98209591
22 PTCH1 NM_000264.4(PTCH1): c.3947A> G (p.Tyr1316Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147067171 GRCh38 Chromosome 9, 95447309: 95447309
23 CYP1B1 NM_000104.3(CYP1B1): c.1347T> C (p.Asp449=) single nucleotide variant Benign rs1056837 GRCh37 Chromosome 2, 38298150: 38298150
24 CYP1B1 NM_000104.3(CYP1B1): c.1347T> C (p.Asp449=) single nucleotide variant Benign rs1056837 GRCh38 Chromosome 2, 38071007: 38071007
25 CYP1B1 NM_000104.3(CYP1B1): c.729G> C (p.Val243=) single nucleotide variant Benign/Likely benign rs9341249 GRCh37 Chromosome 2, 38301803: 38301803
26 CYP1B1 NM_000104.3(CYP1B1): c.729G> C (p.Val243=) single nucleotide variant Benign/Likely benign rs9341249 GRCh38 Chromosome 2, 38074660: 38074660
27 CYP1B1 NM_000104.3(CYP1B1): c.564C> A (p.Gly188=) single nucleotide variant Benign/Likely benign rs9341247 GRCh37 Chromosome 2, 38301968: 38301968
28 CYP1B1 NM_000104.3(CYP1B1): c.564C> A (p.Gly188=) single nucleotide variant Benign/Likely benign rs9341247 GRCh38 Chromosome 2, 38074825: 38074825
29 CYP1B1 NM_000104.3(CYP1B1): c.-1-12C> T single nucleotide variant Benign/Likely benign rs2617266 GRCh37 Chromosome 2, 38302544: 38302544
30 CYP1B1 NM_000104.3(CYP1B1): c.-1-12C> T single nucleotide variant Benign/Likely benign rs2617266 GRCh38 Chromosome 2, 38075401: 38075401
31 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh37 Chromosome 4, 111539437: 111539437
32 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh38 Chromosome 4, 110618281: 110618281
33 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh38 Chromosome 4, 110617671: 110617671
34 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh37 Chromosome 4, 111538827: 111538827
35 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh37 Chromosome 4, 111539694: 111539694
36 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh38 Chromosome 4, 110618538: 110618538
37 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh38 Chromosome 11, 31810819: 31810819
38 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh37 Chromosome 11, 31832367: 31832367
39 EPHB2 NM_001309193.1(EPHB2): c.787G> A (p.Val263Ile) single nucleotide variant Likely benign rs150803261 GRCh37 Chromosome 1, 23111545: 23111545
40 EPHB2 NM_001309193.1(EPHB2): c.787G> A (p.Val263Ile) single nucleotide variant Likely benign rs150803261 GRCh38 Chromosome 1, 22785052: 22785052
41 DAB1 NM_021080.3(DAB1): c.1075G> A (p.Gly359Arg) single nucleotide variant Likely benign rs746363033 GRCh38 Chromosome 1, 57015252: 57015252
42 DAB1 NM_021080.3(DAB1): c.1075G> A (p.Gly359Arg) single nucleotide variant Likely benign rs746363033 GRCh37 Chromosome 1, 57480925: 57480925
43 FAT4 NM_001291285.1(FAT4): c.131A> C (p.Glu44Ala) single nucleotide variant Likely benign rs200221425 GRCh37 Chromosome 4, 126237697: 126237697
44 FAT4 NM_001291285.1(FAT4): c.131A> C (p.Glu44Ala) single nucleotide variant Likely benign rs200221425 GRCh38 Chromosome 4, 125316542: 125316542
45 FAT1 NM_005245.3(FAT1): c.4336G> A (p.Val1446Ile) single nucleotide variant Likely benign rs200828005 GRCh37 Chromosome 4, 187549905: 187549905
46 FAT1 NM_005245.3(FAT1): c.4336G> A (p.Val1446Ile) single nucleotide variant Likely benign rs200828005 GRCh38 Chromosome 4, 186628751: 186628751
47 PTCH1 NM_000264.4(PTCH1): c.2695A> G (p.Ile899Val) single nucleotide variant Likely pathogenic rs765371196 GRCh37 Chromosome 9, 98224146: 98224146
48 PTCH1 NM_000264.4(PTCH1): c.2695A> G (p.Ile899Val) single nucleotide variant Likely pathogenic rs765371196 GRCh38 Chromosome 9, 95461864: 95461864
49 PITRM1 NM_001242307.1(PITRM1): c.2423A> G (p.Lys808Arg) single nucleotide variant Likely benign rs869025266 GRCh37 Chromosome 10, 3187825: 3187825
50 PITRM1 NM_001242307.1(PITRM1): c.2423A> G (p.Lys808Arg) single nucleotide variant Likely benign rs869025266 GRCh38 Chromosome 10, 3145633: 3145633

Expression for Anterior Segment Dysgenesis 5

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

Pathways for Anterior Segment Dysgenesis 5

GO Terms for Anterior Segment Dysgenesis 5

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

# 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

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