MCID: ANT085
MIFTS: 24

Anterior Segment Dysgenesis 5

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

Aliases & Classifications for Anterior Segment Dysgenesis 5

MalaCards integrated aliases for Anterior Segment Dysgenesis 5:

Name: Anterior Segment Dysgenesis 5 57 75
Anterior Segment Dysgenesis 5, Multiple Subtypes 57 6
Asgd5 57 75

Characteristics:

HPO:

32
anterior segment dysgenesis 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Anterior Segment Dysgenesis 5

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). 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 coloboma, ocular, autosomal dominant and juvenile glaucoma. An important gene associated with Anterior Segment Dysgenesis 5 is PAX6 (Paired Box 6). Affiliated tissues include eye, and related phenotypes are strabismus and nystagmus

UniProtKB/Swiss-Prot : 75 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

Clinical features from OMIM:

604229

Human phenotypes related to Anterior Segment Dysgenesis 5:

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

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis 5:

46
# 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:

41
Eye

Publications for Anterior Segment Dysgenesis 5

Variations for Anterior Segment Dysgenesis 5

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

75
# 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 400)
# 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 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh37 Chromosome 2, 38302361: 38302361
8 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh38 Chromosome 2, 38075218: 38075218
9 CYP1B1 NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs) duplication Pathogenic rs587778873 GRCh37 Chromosome 2, 38298288: 38298297
10 CYP1B1 NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs) duplication Pathogenic rs587778873 GRCh38 Chromosome 2, 38071145: 38071154
11 PAX6 NM_000280.4(PAX6): c.152G> T (p.Gly51Val) single nucleotide variant Pathogenic rs587778874 GRCh37 Chromosome 11, 31823314: 31823314
12 PAX6 NM_000280.4(PAX6): c.152G> T (p.Gly51Val) single nucleotide variant Pathogenic rs587778874 GRCh38 Chromosome 11, 31801766: 31801766
13 CYP1B1 NM_000104.3(CYP1B1): c.1347T> C (p.Asp449=) single nucleotide variant Benign rs1056837 GRCh37 Chromosome 2, 38298150: 38298150
14 CYP1B1 NM_000104.3(CYP1B1): c.1347T> C (p.Asp449=) single nucleotide variant Benign rs1056837 GRCh38 Chromosome 2, 38071007: 38071007
15 CYP1B1 NM_000104.3(CYP1B1): c.729G> C (p.Val243=) single nucleotide variant Benign/Likely benign rs9341249 GRCh37 Chromosome 2, 38301803: 38301803
16 CYP1B1 NM_000104.3(CYP1B1): c.729G> C (p.Val243=) single nucleotide variant Benign/Likely benign rs9341249 GRCh38 Chromosome 2, 38074660: 38074660
17 CYP1B1 NM_000104.3(CYP1B1): c.564C> A (p.Gly188=) single nucleotide variant Benign/Likely benign rs9341247 GRCh37 Chromosome 2, 38301968: 38301968
18 CYP1B1 NM_000104.3(CYP1B1): c.564C> A (p.Gly188=) single nucleotide variant Benign/Likely benign rs9341247 GRCh38 Chromosome 2, 38074825: 38074825
19 CYP1B1 NM_000104.3(CYP1B1): c.-1-12C> T single nucleotide variant Benign/Likely benign rs2617266 GRCh37 Chromosome 2, 38302544: 38302544
20 CYP1B1 NM_000104.3(CYP1B1): c.-1-12C> T single nucleotide variant Benign/Likely benign rs2617266 GRCh38 Chromosome 2, 38075401: 38075401
21 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh37 Chromosome 4, 111539437: 111539437
22 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh38 Chromosome 4, 110618281: 110618281
23 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh38 Chromosome 4, 110617671: 110617671
24 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh37 Chromosome 4, 111538827: 111538827
25 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh37 Chromosome 4, 111539694: 111539694
26 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh38 Chromosome 4, 110618538: 110618538
27 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh38 Chromosome 11, 31810819: 31810819
28 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh37 Chromosome 11, 31832367: 31832367
29 EPHB2 NM_001309193.1(EPHB2): c.787G> A (p.Val263Ile) single nucleotide variant Likely benign rs150803261 GRCh37 Chromosome 1, 23111545: 23111545
30 EPHB2 NM_001309193.1(EPHB2): c.787G> A (p.Val263Ile) single nucleotide variant Likely benign rs150803261 GRCh38 Chromosome 1, 22785052: 22785052
31 DAB1 NM_021080.3(DAB1): c.1075G> A (p.Gly359Arg) single nucleotide variant Likely benign rs746363033 GRCh38 Chromosome 1, 57015252: 57015252
32 DAB1 NM_021080.3(DAB1): c.1075G> A (p.Gly359Arg) single nucleotide variant Likely benign rs746363033 GRCh37 Chromosome 1, 57480925: 57480925
33 FAT4 NM_001291285.1(FAT4): c.131A> C (p.Glu44Ala) single nucleotide variant Likely benign rs200221425 GRCh37 Chromosome 4, 126237697: 126237697
34 FAT4 NM_001291285.1(FAT4): c.131A> C (p.Glu44Ala) single nucleotide variant Likely benign rs200221425 GRCh38 Chromosome 4, 125316542: 125316542
35 FAT1 NM_005245.3(FAT1): c.4336G> A (p.Val1446Ile) single nucleotide variant Likely benign rs200828005 GRCh37 Chromosome 4, 187549905: 187549905
36 FAT1 NM_005245.3(FAT1): c.4336G> A (p.Val1446Ile) single nucleotide variant Likely benign rs200828005 GRCh38 Chromosome 4, 186628751: 186628751
37 PTCH1 NM_000264.4(PTCH1): c.2695A> G (p.Ile899Val) single nucleotide variant Likely pathogenic rs765371196 GRCh37 Chromosome 9, 98224146: 98224146
38 PTCH1 NM_000264.4(PTCH1): c.2695A> G (p.Ile899Val) single nucleotide variant Likely pathogenic rs765371196 GRCh38 Chromosome 9, 95461864: 95461864
39 PITRM1 NM_001242307.1(PITRM1): c.2423A> G (p.Lys808Arg) single nucleotide variant Likely benign rs869025266 GRCh37 Chromosome 10, 3187825: 3187825
40 PITRM1 NM_001242307.1(PITRM1): c.2423A> G (p.Lys808Arg) single nucleotide variant Likely benign rs869025266 GRCh38 Chromosome 10, 3145633: 3145633
41 RARG NM_000966.5(RARG): c.245C> T (p.Pro82Leu) single nucleotide variant Likely benign rs769476878 GRCh37 Chromosome 12, 53609518: 53609518
42 RARG NM_000966.5(RARG): c.245C> T (p.Pro82Leu) single nucleotide variant Likely benign rs769476878 GRCh38 Chromosome 12, 53215734: 53215734
43 PRPF8 NM_006445.3(PRPF8): c.3527C> T (p.Ser1176Phe) single nucleotide variant Likely benign rs869025267 GRCh38 Chromosome 17, 1673487: 1673487
44 PRPF8 NM_006445.3(PRPF8): c.3527C> T (p.Ser1176Phe) single nucleotide variant Likely benign rs869025267 GRCh37 Chromosome 17, 1576781: 1576781
45 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh37 Chromosome 4, 111539638: 111539638
46 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh38 Chromosome 4, 110618482: 110618482
47 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh37 Chromosome 11, 31815362: 31815362
48 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh38 Chromosome 11, 31793814: 31793814
49 46;XX;t(X;22)(q13;q13) Translocation Uncertain significance
50 PAX6 NM_000280.4(PAX6): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 GRCh37 Chromosome 11, 31815335: 31815335

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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