ASGD5
MCID: ANT085
MIFTS: 44

Anterior Segment Dysgenesis 5 (ASGD5)

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

Aliases & Classifications for Anterior Segment Dysgenesis 5

MalaCards integrated aliases for Anterior Segment Dysgenesis 5:

Name: Anterior Segment Dysgenesis 5 57 12 72 6 15
Anterior Segment Dysgenesis 5, Multiple Subtypes 57 29 6
Asgd5 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
variable expressivity

Inheritance:
autosomal dominant


HPO:

31
anterior segment dysgenesis 5:
Inheritance autosomal dominant 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) (Updated 20-May-2021)

MalaCards based summary : Anterior Segment Dysgenesis 5, also known as anterior segment dysgenesis 5, multiple subtypes, is related to aniridia 2 and hereditary wilms' tumor. An important gene associated with Anterior Segment Dysgenesis 5 is PAX6 (Paired Box 6), and among its related pathways/superpathways is TRP channels. Affiliated tissues include eye, pituitary and brain, and related phenotypes are nystagmus and strabismus

Disease Ontology : 12 An anterior segment dysgenesis that has material basis in heterozygous mutation in the PAX6 gene on chromosome 11p13.

UniProtKB/Swiss-Prot : 72 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

Diseases in the Anterior Segment Dysgenesis family:

Anterior Segment Dysgenesis 1 Anterior Segment Dysgenesis 4
Anterior Segment Dysgenesis 7 Anterior Segment Dysgenesis 3
Anterior Segment Dysgenesis 5 Anterior Segment Dysgenesis 2
Anterior Segment Dysgenesis 6 Anterior Segment Dysgenesis 8

Diseases related to Anterior Segment Dysgenesis 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 aniridia 2 10.3 PAX6 ELP4
2 hereditary wilms' tumor 10.3 PAX6 ELP4
3 foveal hypoplasia 1 10.3 PAX6 ELP4
4 microphthalmia, isolated 2 10.3 PAX6 CYP1B1
5 hydrophthalmos 10.2 PAX6 CYP1B1
6 isolated aniridia 10.2 PAX6 ELP4
7 coloboma of optic nerve 10.2 PAX6 ELP4
8 coloboma, ocular, autosomal dominant 10.2 PAX6 ELP4
9 retinal dystrophy and iris coloboma with or without congenital cataract 10.2 TRPM3 MIR204
10 megalocornea 10.2 MIR204 CYP1B1
11 anterior segment dysgenesis 1 10.2 PAX6 CYP1B1
12 juvenile glaucoma 10.2 PAX6 CYP1B1
13 iris disease 10.2 PAX6 ELP4 CYP1B1
14 aniridia 1 10.1 PAX6 ELP4 CYP1B1
15 keratitis, hereditary 10.1 PAX6 ELP4 CYP1B1
16 intraocular pressure quantitative trait locus 10.1 PAX6 MIR204 CYP1B1
17 mucolipidosis iv 10.1 TRPM3 TRPM1
18 primary congenital glaucoma 10.0 PAX6 CYP1B1
19 keratocystic odontogenic tumor 10.0 PTCH1 CTNNBIP1
20 peters-plus syndrome 10.0 PTCH1 PAX6 ELP4 CYP1B1
21 axenfeld-rieger syndrome 10.0 PTCH1 PAX6 MIR204 CYP1B1
22 familial episodic pain syndrome 10.0 TRPM3 TRPM1
23 coloboma of macula 10.0 PTCH1 PAX6 MIR204 ELP4
24 axenfeld-rieger syndrome, type 3 10.0 PAX6 MIR204 CYP1B1 ANKRD13A
25 keratopathy 9.9 PAX6 CYP1B1
26 congenital stationary night blindness 9.8 TRPM3 TRPM1 RDH10
27 microphthalmia 9.8 TRPM1 PTCH1 PAX6 MIR204 ELP4

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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 strabismus 31 HP:0000486
3 glaucoma 31 HP:0000501
4 microphthalmia 31 HP:0000568
5 reduced visual acuity 31 HP:0007663
6 posterior embryotoxon 31 HP:0000627
7 sclerocornea 31 HP:0000647
8 microcornea 31 HP:0000482
9 hypoplasia of the fovea 31 HP:0007750
10 peters anomaly 31 HP:0000659
11 developmental cataract 31 HP:0000519
12 rieger anomaly 31 HP:0000558
13 anterior synechiae of the anterior chamber 31 HP:0011483

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
strabismus
glaucoma
microphthalmia
posterior embryotoxon
more

Clinical features from OMIM®:

604229 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.23 CTNNBIP1 CYP1B1 KLHL20 MYO10 PAX6 PTCH1
2 taste/olfaction MP:0005394 9.13 PAX6 PTCH1 RDH10

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

Genetic tests related to Anterior Segment Dysgenesis 5:

# Genetic test Affiliating Genes
1 Anterior Segment Dysgenesis 5, Multiple Subtypes 29

Anatomical Context for Anterior Segment Dysgenesis 5

MalaCards organs/tissues related to Anterior Segment Dysgenesis 5:

40
Eye, Pituitary, Brain

Publications for Anterior Segment Dysgenesis 5

Articles related to Anterior Segment Dysgenesis 5:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. 57 6
10441571 1999
2
PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. 6
29618921 2018
3
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants. 6
28488383 2017
4
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 6
28321846 2017
5
Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation. 6
29217025 2017
6
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. 57
27839872 2016
7
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations. 6
26849621 2016
8
Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia. 6
27431685 2016
9
[Analysis of PAX6 gene mutation in a family affected with congenital aniridia]. 6
27455012 2016
10
Assessment of PAX6 alleles in 66 families with aniridia. 6
26661695 2016
11
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 6
26893459 2016
12
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma. 6
27463523 2016
13
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. 6
27124303 2016
14
Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population. 6
27307692 2016
15
A rare PAX6 mutation in a Chinese family with congenital aniridia. 6
26535646 2015
16
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia. 6
25678763 2015
17
Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia. 6
24737507 2014
18
Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families. 6
27081502 2014
19
Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired. 6
24390526 2014
20
A review of the clinical and genetic aspects of aniridia. 6
24138039 2013
21
11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia. 6
23761016 2013
22
Mutation analysis of paired box 6 gene in inherited aniridia in northern China. 6
23734086 2013
23
Aniridia. 6
22692063 2012
24
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. 6
22171686 2012
25
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia. 6
22509105 2012
26
Genetic and genomic analysis of classic aniridia in Saudi Arabia. 6
21423868 2011
27
A case of aniridia with unilateral Peters anomaly. 6
21397818 2011
28
Mutation spectrum of PAX6 in Chinese patients with aniridia. 6
21850189 2011
29
Aniridia phenotype and myopia in a turkish boy with a PAX6 gene mutation. 6
21848007 2011
30
Pax6 localizes to chromatin-rich territories and displays a slow nuclear mobility altered by disease mutations. 6
20577777 2010
31
Eye anomalies and neurological manifestations in patients with PAX6 mutations. 6
19898691 2009
32
PAX6 aniridia and interhemispheric brain anomalies. 6
19862335 2009
33
Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. 6
19218613 2009
34
Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations. 6
20054790 2009
35
Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. 6
18483559 2008
36
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. 6
18241071 2008
37
Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion. 6
17630404 2007
38
Three novel mutations of the PAX6 gene in Japanese aniridia patients. 6
17568989 2007
39
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2. 6
16712695 2006
40
A novel PAX6 gene mutation in a Chinese family with aniridia. 6
15889018 2005
41
Genetic analysis of the Caenorhabditis elegans pax-6 locus: roles of paired domain-containing and nonpaired domain-containing isoforms. 6
15579687 2004
42
Surgical management of glaucoma in infants and children with Peters' anomaly: long-term structural and functional outcome. 57
14711722 2004
43
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 6
12721955 2003
44
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. 6
12634864 2003
45
Missense mutations in the DNA-binding region and termination codon in PAX6. 6
12552561 2003
46
Anterior segment dysgenesis and the developmental glaucomas are complex traits. 57
12015278 2002
47
Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. 6
11479730 2001
48
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 6
11309364 2001
49
Rieger syndrome is associated with PAX6 deletion. 6
11284764 2001
50
Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature. 6
10887930 2000

Variations for Anterior Segment Dysgenesis 5

ClinVar genetic disease variations for Anterior Segment Dysgenesis 5:

6 (show top 50) (show all 294)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP1B1 NM_000104.3(CYP1B1):c.1063_1075del (p.Arg355fs) Deletion Pathogenic 417858 rs1064792896 GRCh37: 2:38298422-38298434
GRCh38: 2:38071279-38071291
2 PAX6 NM_001368894.2(PAX6):c.38G>C (p.Gly13Ala) SNV Pathogenic 988072 GRCh37: 11:31824355-31824355
GRCh38: 11:31802807-31802807
3 PAX6 NM_001368894.2(PAX6):c.828G>C (p.Arg276Ser) SNV Pathogenic 988073 GRCh37: 11:31815330-31815330
GRCh38: 11:31793782-31793782
4 PAX6 NM_000280.4(PAX6):c.142-117T>A SNV Pathogenic 3473 rs121907921 GRCh37: 11:31823441-31823441
GRCh38: 11:31801893-31801893
5 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter) SNV Pathogenic 7737 rs72549387 GRCh37: 2:38302361-38302361
GRCh38: 2:38075218-38075218
6 CYP1B1 NM_000104.3(CYP1B1):c.1200_1209dup (p.Thr404fs) Duplication Pathogenic 68466 rs587778873 GRCh37: 2:38298287-38298288
GRCh38: 2:38071144-38071145
7 PAX6 NM_000280.4(PAX6):c.152G>T (p.Gly51Val) SNV Pathogenic 68469 rs587778874 GRCh37: 11:31823314-31823314
GRCh38: 11:31801766-31801766
8 PAX6 NM_000280.4(PAX6):c.120C>A (p.Cys40Ter) SNV Pathogenic 460456 rs1329112134 GRCh37: 11:31824273-31824273
GRCh38: 11:31802725-31802725
9 PAX6 NM_000280.4(PAX6):c.495del (p.Thr166fs) Deletion Pathogenic 460463 rs1554984996 GRCh37: 11:31822267-31822267
GRCh38: 11:31800719-31800719
10 PAX6 NM_000280.4(PAX6):c.718C>T (p.Arg240Ter) SNV Pathogenic 3467 rs121907917 GRCh37: 11:31815627-31815627
GRCh38: 11:31794079-31794079
11 PAX6 NM_000280.4(PAX6):c.357+4A>T SNV Pathogenic 460459 rs1554985282 GRCh37: 11:31823105-31823105
GRCh38: 11:31801557-31801557
12 ELP4 , PAX6 NM_019040.5(ELP4):c.*6459_*6465del Deletion Pathogenic 460457 rs1554982299 GRCh37: 11:31811530-31811536
GRCh38: 11:31789982-31789988
13 PAX6 NM_000280.4(PAX6):c.607C>T (p.Arg203Ter) SNV Pathogenic 3466 rs121907916 GRCh37: 11:31816253-31816253
GRCh38: 11:31794705-31794705
14 PAX6 NM_000280.4(PAX6):c.3G>A (p.Met1Ile) SNV Pathogenic 460461 rs1554986754 GRCh37: 11:31827957-31827957
GRCh38: 11:31806409-31806409
15 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter) SNV Pathogenic 279862 rs886041222 GRCh37: 11:31815335-31815335
GRCh38: 11:31793787-31793787
16 PAX6 NM_001368911.1(PAX6):c.1078-814_1078-810dup Duplication Pathogenic 460455 rs1554982609 GRCh37: 11:31812376-31812377
GRCh38: 11:31790828-31790829
17 PAX6 NM_000280.4(PAX6):c.470del (p.Gly157fs) Deletion Pathogenic 460462 rs1554985024 GRCh37: 11:31822292-31822292
GRCh38: 11:31800744-31800744
18 PAX6 NM_000280.4(PAX6):c.358delG Deletion Pathogenic 284286 rs886042838 GRCh37: 11:31822404-31822404
GRCh38: 11:31800856-31800856
19 PAX6 NM_000280.4(PAX6):c.949C>T (p.Arg317Ter) SNV Pathogenic 372444 rs1057517785 GRCh37: 11:31815069-31815069
GRCh38: 11:31793521-31793521
20 PAX6 NM_000280.4(PAX6):c.325G>T (p.Glu109Ter) SNV Pathogenic 492993 rs1554985305 GRCh37: 11:31823141-31823141
GRCh38: 11:31801593-31801593
21 PAX6 NM_000280.4(PAX6):c.1A>C (p.Met1Leu) SNV Pathogenic 430972 rs1131692284 GRCh37: 11:31827959-31827959
GRCh38: 11:31806411-31806411
22 PAX6 NM_000280.4(PAX6):c.536_537insC (p.Gln179fs) Insertion Pathogenic 529891 rs1554983577 GRCh37: 11:31816323-31816324
GRCh38: 11:31794775-31794776
23 PAX6 NM_000280.4(PAX6):c.511C>T (p.Gln171Ter) SNV Pathogenic 430998 rs1131692308 GRCh37: 11:31822251-31822251
GRCh38: 11:31800703-31800703
24 PAX6 NM_000280.4(PAX6):c.52G>C (p.Gly18Arg) SNV Pathogenic 289849 rs886044289 GRCh37: 11:31824341-31824341
GRCh38: 11:31802793-31802793
25 PAX6 NM_000280.4(PAX6):c.139C>T (p.Gln47Ter) SNV Pathogenic 529892 rs1554985716 GRCh37: 11:31824254-31824254
GRCh38: 11:31802706-31802706
26 PAX6 and overlap with 1 gene(s) NC_000011.10:g.(?_31789914)_(31794829_?)del Deletion Pathogenic 529893 GRCh37: 11:31811462-31816377
GRCh38: 11:31789914-31794829
27 PAX6 and overlap with 3 gene(s) NC_000011.10:g.(?_31789934)_(31806411_?)del Deletion Pathogenic 529895 GRCh37: 11:31811482-31827959
GRCh38: 11:31789934-31806411
28 PAX6 NM_001310160.1(PAX6):c.-680_-676delinsAACC Indel Pathogenic 565950 rs1565245835 GRCh37: 11:31824287-31824291
GRCh38: 11:31802739-31802743
29 PAX6 NM_000280.4(PAX6):c.114dup (p.Pro39fs) Duplication Pathogenic 567776 rs1565245598 GRCh37: 11:31824278-31824279
GRCh38: 11:31802730-31802731
30 PAX6 NM_000280.4(PAX6):c.403C>T (p.Gln135Ter) SNV Pathogenic 430994 rs1131692304 GRCh37: 11:31822359-31822359
GRCh38: 11:31800811-31800811
31 PAX6 NM_000280.4(PAX6):c.357+1G>A SNV Pathogenic 92758 rs398123295 GRCh37: 11:31823108-31823108
GRCh38: 11:31801560-31801560
32 overlap with 7 genes NC_000011.9:g.(?_31284590)_(32456911_?)del Deletion Pathogenic 583750 GRCh37: 11:31284590-32456911
GRCh38:
33 overlap with 5 genes NC_000011.10:g.(?_31664397)_(31794829_?)del Deletion Pathogenic 584225 GRCh37: 11:31685945-31816377
GRCh38: 11:31664397-31794829
34 ELP4 , PAX6 NM_019040.5(ELP4):c.*6411T>A SNV Pathogenic 3474 rs121907922 GRCh37: 11:31811483-31811483
GRCh38: 11:31789935-31789935
35 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter) SNV Pathogenic 279862 rs886041222 GRCh37: 11:31815335-31815335
GRCh38: 11:31793787-31793787
36 overlap with 5 genes NC_000011.9:g.(?_31284590)_(31832374_?)del Deletion Pathogenic 647471 GRCh37: 11:31284590-31832374
GRCh38:
37 PAX6 NM_001310160.1(PAX6):c.-704del Deletion Pathogenic 430974 rs1131692286 GRCh37: 11:31824315-31824315
GRCh38: 11:31802767-31802767
38 ELP4 , PAX6 NM_019040.5(ELP4):c.*6411T>A SNV Pathogenic 3474 rs121907922 GRCh37: 11:31811483-31811483
GRCh38: 11:31789935-31789935
39 PAX6 NC_000011.10:g.(?_31794610)_(31794829_?)del Deletion Pathogenic 651831 GRCh37: 11:31816158-31816377
GRCh38: 11:31794610-31794829
40 PAX6 NM_000280.4(PAX6):c.112del (p.Arg38fs) Deletion Pathogenic 651977 rs1592563428 GRCh37: 11:31824281-31824281
GRCh38: 11:31802733-31802733
41 PAX6 NM_001310160.1(PAX6):c.-747del Deletion Pathogenic 658913 rs1592564672 GRCh37: 11:31824358-31824358
GRCh38: 11:31802810-31802810
42 PAX6 NM_000280.4(PAX6):c.1183+5G>A SNV Pathogenic 658957 rs1592366898 GRCh37: 11:31812253-31812253
GRCh38: 11:31790705-31790705
43 PAX6 NM_000280.4(PAX6):c.775dup (p.Ser259fs) Duplication Pathogenic 665256 rs1592416305 GRCh37: 11:31815340-31815341
GRCh38: 11:31793792-31793793
44 PAX6 NM_000280.4(PAX6):c.316_317insA (p.Leu106fs) Insertion Pathogenic 835201 GRCh37: 11:31823149-31823150
GRCh38: 11:31801601-31801602
45 PAX6 NM_000280.4(PAX6):c.486G>A (p.Trp162Ter) SNV Pathogenic 379847 rs1057520755 GRCh37: 11:31822276-31822276
GRCh38: 11:31800728-31800728
46 PAX6 NM_000280.4(PAX6):c.453_454delinsTT (p.Gln152Ter) Indel Pathogenic 843371 GRCh37: 11:31822308-31822309
GRCh38: 11:31800760-31800761
47 PAX6 NM_000280.4(PAX6):c.766-1G>C SNV Pathogenic 800453 rs1592416538 GRCh37: 11:31815351-31815351
GRCh38: 11:31793803-31793803
48 PAX6 NM_000280.4(PAX6):c.189_195del (p.Gly64fs) Deletion Pathogenic 856041 GRCh37: 11:31823271-31823277
GRCh38: 11:31801723-31801729
49 PAX6 NM_000280.4(PAX6):c.62_65dup (p.Asp23fs) Duplication Pathogenic 856320 GRCh37: 11:31824327-31824328
GRCh38: 11:31802779-31802780
50 PAX6 NM_001368894.2(PAX6):c.527G>A (p.Trp176Ter) SNV Pathogenic 942257 GRCh37: 11:31822277-31822277
GRCh38: 11:31800729-31800729

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

72
# 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

Expression for Anterior Segment Dysgenesis 5

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

Pathways for Anterior Segment Dysgenesis 5

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

# Super pathways Score Top Affiliating Genes
1 10.02 TRPM3 TRPM1

GO Terms for Anterior Segment Dysgenesis 5

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.73 PTCH1 PAX6 MIR204 CYP1B1
2 animal organ morphogenesis GO:0009887 9.63 RDH10 PTCH1 PAX6
3 embryonic organ development GO:0048568 9.51 RDH10 PTCH1
4 dorsal/ventral pattern formation GO:0009953 9.49 PTCH1 PAX6
5 branching involved in ureteric bud morphogenesis GO:0001658 9.48 PTCH1 CTNNBIP1
6 protein tetramerization GO:0051262 9.4 TRPM3 TRPM1
7 cell fate determination GO:0001709 9.37 PTCH1 PAX6
8 cellular response to light stimulus GO:0071482 9.32 TRPM3 TRPM1
9 G protein-coupled glutamate receptor signaling pathway GO:0007216 9.26 TRPM3 TRPM1
10 retinal metabolic process GO:0042574 9.16 RDH10 CYP1B1
11 divalent metal ion transport GO:0070838 8.96 TRPM3 TRPM1
12 visual perception GO:0007601 8.92 TRPM1 RDH10 PAX6 CYP1B1

Sources for Anterior Segment Dysgenesis 5

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
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