ASGD1
MCID: ANT077
MIFTS: 47

Anterior Segment Dysgenesis 1 (ASGD1)

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

Aliases & Classifications for Anterior Segment Dysgenesis 1

MalaCards integrated aliases for Anterior Segment Dysgenesis 1:

Name: Anterior Segment Dysgenesis 1 57 12 72 29 6
Anterior Segment Mesenchymal Dysgenesis 57 72 13 54 70
Anterior Segment Dysgenesis 1, Multiple Subtypes 57 29 6
Anterior Segment Ocular Dysgenesis 57 72 6
Asgd1 57 72
Asmd 57 72
Asod 57 72
Familial Ocular Anterior Segment Mesenchymal Dysgenesis 72
Anterior Segment Mesenchymal Dysgenesis; Asmd 57
Anterior Segment Ocular Dysgenesis; Asod 57
Axenfeld-Rieger Syndrome, Type 3 70
Irido-Corneal Dysgenesis 70

Characteristics:

OMIM®:

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

Miscellaneous:
variable features present
markedly variable expressivity within families
histopathology findings from report of 1 patient


HPO:

31
anterior segment dysgenesis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080606
OMIM® 57 107250
OMIM Phenotypic Series 57 PS107250
MeSH 44 D005124
UMLS 70 C0266525 C1862839 C2678503

Summaries for Anterior Segment Dysgenesis 1

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). Some patients with ASGD1 have been reported with the Peters anomaly subtype. In its simplist form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999). (107250) (Updated 20-May-2021)

MalaCards based summary : Anterior Segment Dysgenesis 1, also known as anterior segment mesenchymal dysgenesis, is related to anterior segment dysgenesis 4 and anterior segment dysgenesis 5. An important gene associated with Anterior Segment Dysgenesis 1 is PITX3 (Paired Like Homeodomain 3), and among its related pathways/superpathways is Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include eye, endothelial and lung, and related phenotypes are posterior polar cataract and ocular anterior segment dysgenesis

Disease Ontology : 12 An anterior segment dysgenesis that has material basis in heterozygous mutation in the PITX3 gene on chromosome 10q24.

UniProtKB/Swiss-Prot : 72 Anterior segment dysgenesis 1: 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.

Wikipedia : 73 Anterior segment mesenchymal dysgenesis, or simply anterior segment dysgenesis (ASD), is a failure of... more...

Related Diseases for Anterior Segment Dysgenesis 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 4 31.5 PITX2 FOXC1
2 anterior segment dysgenesis 5 31.3 PAX6 CYP1B1
3 anterior segment dysgenesis 2 30.3 PITX3 LINC01389 FOXE3
4 cataract 11, multiple types 30.1 PITX3 GBF1
5 early-onset non-syndromic cataract 29.7 PITX3 LINC01389 GBF1 FOXE3
6 axenfeld-rieger syndrome, type 1 29.4 PITX3 PITX2 PAX6 FOXE3 FOXC1
7 axenfeld-rieger syndrome, type 3 29.0 PXDN PITX3 PITX2 PAX6 LINC01389 ITPR1
8 anterior segment dysgenesis 28.7 PXDN PITX3 PITX2 PAX6 LINC01389 ITPR1
9 peters-plus syndrome 28.5 PXDN PITX3 PITX2 PAX6 FOXE3 FOXC1
10 cataract 28.2 PXDN PITX3 PITX2 PAX6 LINC01389 GJA8
11 niemann-pick disease, type a 11.0
12 niemann-pick disease, type b 11.0
13 anterior segment dysgenesis 7 10.9
14 anterior segment dysgenesis 3 10.9
15 anterior segment dysgenesis 6 10.9
16 anterior segment dysgenesis 8 10.9
17 acid sphingomyelinase deficiency 10.3
18 aortic aneurysm, familial thoracic 11 10.3 LINC01389 FOXE3
19 keloid disorder 10.2
20 disuse amblyopia 10.2 PITX3 FOXE3
21 axenfeld-rieger syndrome, type 2 10.2 PITX2 FOXC1
22 otopalatodigital syndrome, type ii 10.2 PITX2 FOXC1
23 posterior polar cataract 10.2 PITX3 GBF1
24 early-onset glaucoma 10.2 PITX2 CYP1B1
25 cornea plana 10.1 PITX2 FOXC1
26 congenital aphakia 10.1 PAX6 FOXE3
27 excessive tearing 10.1 FOXC1 CYP1B1
28 pick disease of brain 10.1
29 niemann-pick disease 10.1
30 lysosomal storage disease 10.1
31 cataract 34, multiple types 10.1 LINC01389 FOXE3
32 hypertelorism 10.1
33 otopalatodigital syndrome, type i 10.1
34 yemenite deaf-blind hypopigmentation syndrome 10.1
35 chromosome 16p13.3 deletion syndrome, proximal 10.1
36 iris pattern 10.1
37 partial duplication of the short arm of chromosome 2 10.1
38 acute closed-angle glaucoma 10.1 PXDN CYP1B1
39 heritable thoracic aortic disease 10.1
40 isolated aniridia 10.0 PAX6 FOXC1
41 aniseikonia 10.0 PITX3 PAX6 FOXE3
42 mature cataract 10.0 GJA8 CPAMD8
43 lung disease 10.0
44 colobomatous microphthalmia 10.0 PITX3 PITX2 PAX6
45 glaucoma-related pigment dispersion syndrome 10.0 PITX2 FOXC1 CYP1B1
46 microphthalmia, isolated 2 10.0 PAX6 CYP1B1
47 lymphedema-distichiasis syndrome 10.0 FOXE3 FOXC1
48 acquired color blindness 10.0 PITX2 PAX6 FOXC1
49 phacolytic glaucoma 10.0 PXDN FOXE3 COL4A1
50 intestinal atresia 10.0 PITX2 PAX6 FOXC1

Graphical network of the top 20 diseases related to Anterior Segment Dysgenesis 1:



Diseases related to Anterior Segment Dysgenesis 1

Symptoms & Phenotypes for Anterior Segment Dysgenesis 1

Human phenotypes related to Anterior Segment Dysgenesis 1:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 posterior polar cataract 31 very rare (1%) HP:0001115
2 ocular anterior segment dysgenesis 31 very rare (1%) HP:0007700
3 opacification of the corneal stroma 31 HP:0007759
4 microcornea 31 HP:0000482
5 peters anomaly 31 HP:0000659
6 ocular hypertension 31 HP:0007906

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
microcornea
peters anomaly
cataracts, multiple types
corneal opacities of variable size and density
iris adhesions (synechiae)
more

Clinical features from OMIM®:

107250 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.35 FOXC1 PAX6 PITX2 PITX3 PXDN
2 vision/eye MP:0005391 9.28 COL4A1 CYP1B1 FOXC1 GJA8 ITPR1 PAX6

Drugs & Therapeutics for Anterior Segment Dysgenesis 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label, Multicenter, Ascending Dose Study of the Tolerability and Safety of Recombinant Human Acid Sphingomyelinase (rhASM) in Patients With Acid Sphingomyelinase Deficiency (ASMD) Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
2 A Phase I, Single-Center, Single Dose, Dose Escalation Study of Recombinant Human Acid Sphingomyelinase (rhASM) in Adults With Acid Sphingomyelinase Deficiency (ASMD) Terminated NCT00410566 Phase 1 rhASM;rhASM;rhASM;rhASM;rhASM
3 A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD) Recruiting NCT04106544

Search NIH Clinical Center for Anterior Segment Dysgenesis 1

Genetic Tests for Anterior Segment Dysgenesis 1

Genetic tests related to Anterior Segment Dysgenesis 1:

# Genetic test Affiliating Genes
1 Anterior Segment Dysgenesis 1 29 PITX3
2 Anterior Segment Dysgenesis 1, Multiple Subtypes 29

Anatomical Context for Anterior Segment Dysgenesis 1

MalaCards organs/tissues related to Anterior Segment Dysgenesis 1:

40
Eye, Endothelial, Lung, Brain, Liver

Publications for Anterior Segment Dysgenesis 1

Articles related to Anterior Segment Dysgenesis 1:

(show all 28)
# Title Authors PMID Year
1
Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. 6 57 61 54
18989383 2008
2
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. 54 57 6 61
9620774 1998
3
Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. 6 57 61
6801987 1982
4
Autosomal dominant cataracts and Peters anomaly in a large Australian family. 6 57
10361984 1999
5
Anterior segment mesenchymal dysgenesis: probable linkage to the MNS blood group on chromosome 4. 57 61
6978612 1982
6
Revealing hidden genetic diagnoses in the ocular anterior segment disorders. 6
32499604 2020
7
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. 57
27839872 2016
8
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 6
24033328 2014
9
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. 6
24555714 2014
10
FOXE3 plays a significant role in autosomal recessive microphthalmia. 6
20140963 2010
11
Functional analysis of human mutations in homeodomain transcription factor PITX3. 6
17888164 2007
12
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. 6
16826526 2006
13
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). 6
15286169 2004
14
Anterior segment dysgenesis and the developmental glaucomas are complex traits. 57
12015278 2002
15
Variable expressivity of autosomal dominant microcornea with cataract. 57
3355418 1988
16
Autosomal dominant cataract and microcornea associated with myopia in a Sicilian family. 57
4028500 1985
17
Autosomal dominant cataracts and microcornea. 57
550913 1979
18
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. 54 61
16565358 2006
19
Identification of a New Genetic Mutation Associated With Peters Anomaly. 61
33284162 2021
20
Congenital Ocular Abnormalities in Free-Ranging White-Tailed Deer. 61
29444630 2018
21
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects. 61
29314435 2018
22
Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation. 61
20376326 2010
23
Homeodomain protein Pitx3 maintains the mitotic activity of lens epithelial cells. 61
19007884 2009
24
Unilateral congenital corneal keloid with anterior segment mesenchymal dysgenesis and subluxated lens: case report and review of literature. 61
17198027 2007
25
Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene. 61
15665340 2005
26
Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome. 61
11805525 2002
27
Axenfeld anomaly in association with hypomelanosis of Ito. 61
1881652 1991
28
Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2. 61
2013025 1991

Variations for Anterior Segment Dysgenesis 1

ClinVar genetic disease variations for Anterior Segment Dysgenesis 1:

6 (show top 50) (show all 102)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PITX3 PITX3, 17-BP DUP, NT657 Duplication Pathogenic 6937 GRCh37:
GRCh38:
2 CYP1B1 NM_000104.3(CYP1B1):c.1200_1209dup (p.Thr404fs) Duplication Pathogenic 68466 rs587778873 GRCh37: 2:38298287-38298288
GRCh38: 2:38071144-38071145
3 PITX2 NM_000325.6(PITX2):c.344G>A (p.Arg115His) SNV Pathogenic 8094 rs104893862 GRCh37: 4:111542387-111542387
GRCh38: 4:110621231-110621231
4 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter) SNV Pathogenic 8448 rs80358194 GRCh37: 1:47882707-47882707
GRCh38: 1:47417035-47417035
5 CYP1B1 NM_000104.3(CYP1B1):c.1331G>A (p.Arg444Gln) SNV Pathogenic 845455 GRCh37: 2:38298166-38298166
GRCh38: 2:38071023-38071023
6 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter) SNV Pathogenic 7737 rs72549387 GRCh37: 2:38302361-38302361
GRCh38: 2:38075218-38075218
7 FOXC1 NM_001453.3(FOXC1):c.478_482dup (p.Met161fs) Duplication Pathogenic 932294 GRCh37: 6:1611157-1611158
GRCh38: 6:1610922-1610923
8 CPAMD8 NM_015692.5(CPAMD8):c.4408-1G>A SNV Pathogenic 375311 rs369858688 GRCh37: 19:17014434-17014434
GRCh38: 19:16903624-16903624
9 FOXC1 NM_001453.3(FOXC1):c.1399C>T (p.Gln467Ter) SNV Pathogenic 932292 GRCh37: 6:1612079-1612079
GRCh38: 6:1611844-1611844
10 PXDN NM_012293.3(PXDN):c.4085_4086del (p.Gln1362fs) Deletion Pathogenic 932291 GRCh37: 2:1642738-1642739
GRCh38: 2:1638966-1638967
11 PITX2 NM_000325.6(PITX2):c.409C>T (p.Arg137Trp) SNV Pathogenic 8089 rs121909248 GRCh37: 4:111542322-111542322
GRCh38: 4:110621166-110621166
12 PITX2 NM_000325.6(PITX2):c.500dup (p.Asn168fs) Duplication Pathogenic 932289 GRCh37: 4:111539755-111539756
GRCh38: 4:110618599-110618600
13 ADAMTS17 NM_139057.4(ADAMTS17):c.526C>T (p.Arg176Ter) SNV Pathogenic 932287 GRCh37: 15:100871184-100871184
GRCh38: 15:100330979-100330979
14 GBF1 , PITX3 NM_005029.4(PITX3):c.640_656dup (p.Gly220fs) Duplication Pathogenic 468353 rs1411557416 GRCh37: 10:103990523-103990524
GRCh38: 10:102230766-102230767
15 GJA8 NM_005267.5(GJA8):c.281G>A (p.Gly94Glu) SNV Likely pathogenic 932286 GRCh37: 1:147380363-147380363
GRCh38: 1:147908236-147908236
16 FOXC1 NM_001453.3(FOXC1):c.518G>A (p.Arg173His) SNV Likely pathogenic 932288 GRCh37: 6:1611198-1611198
GRCh38: 6:1610963-1610963
17 FOXC1 NM_001453.3(FOXC1):c.504_506GCG[6] (p.Arg173dup) Microsatellite Likely pathogenic 570813 rs1183655796 GRCh37: 6:1611183-1611184
GRCh38: 6:1610948-1610949
18 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.181del (p.Arg61fs) Deletion Likely pathogenic 839342 GRCh37: 1:47882168-47882168
GRCh38: 1:47416496-47416496
19 GJA8 NM_005267.5(GJA8):c.280G>C (p.Gly94Arg) SNV Likely pathogenic 932290 GRCh37: 1:147380362-147380362
GRCh38: 1:147908235-147908235
20 COL4A1 NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) SNV Likely pathogenic 235568 rs878853070 GRCh37: 13:110861756-110861756
GRCh38: 13:110209409-110209409
21 ITPR1 NM_002222.6(ITPR1):c.7471G>A (p.Gly2491Arg) SNV Likely pathogenic 235922 rs752281590 GRCh37: 3:4856205-4856205
GRCh38: 3:4814521-4814521
22 PAX6 NM_000280.4(PAX6):c.152G>T (p.Gly51Val) SNV Likely pathogenic 68469 rs587778874 GRCh37: 11:31823314-31823314
GRCh38: 11:31801766-31801766
23 CPAMD8 NM_015692.5(CPAMD8):c.3008G>T (p.Gly1003Val) SNV Likely pathogenic 932293 GRCh37: 19:17039888-17039888
GRCh38: 19:16929078-16929078
24 PXDN NM_012293.3(PXDN):c.2459A>G (p.Gln820Arg) SNV Likely pathogenic 635164 rs1558489563 GRCh37: 2:1653093-1653093
GRCh38: 2:1649321-1649321
25 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.837_843CCCGCTG[3] (p.Glu284delinsAlaArgTer) Microsatellite Uncertain significance 639324 rs1476879051 GRCh37: 1:47882822-47882823
GRCh38: 1:47417150-47417151
26 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.893C>T (p.Pro298Leu) SNV Uncertain significance 643964 rs1570406106 GRCh37: 1:47882880-47882880
GRCh38: 1:47417208-47417208
27 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.527C>T (p.Ala176Val) SNV Uncertain significance 643978 rs201955081 GRCh37: 1:47882514-47882514
GRCh38: 1:47416842-47416842
28 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.629C>G (p.Pro210Arg) SNV Uncertain significance 661663 rs780276474 GRCh37: 1:47882616-47882616
GRCh38: 1:47416944-47416944
29 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.106G>A (p.Glu36Lys) SNV Uncertain significance 498360 rs900562270 GRCh37: 1:47882093-47882093
GRCh38: 1:47416421-47416421
30 GBF1 , PITX3 NM_005029.4(PITX3):c.726_728CGC[6] (p.Ala250dup) Microsatellite Uncertain significance 665913 rs749538425 GRCh37: 10:103990439-103990440
GRCh38: 10:102230682-102230683
31 PITX2 NM_000325.6(PITX2):c.*373_*375GTT[1] Microsatellite Uncertain significance 347292 rs886059004 GRCh37: 4:111538903-111538905
GRCh38: 4:110617747-110617749
32 PITX2 NM_000325.6(PITX2):c.*119T>A SNV Uncertain significance 347297 rs765040142 GRCh37: 4:111539162-111539162
GRCh38: 4:110618006-110618006
33 PITX2 NM_000325.6(PITX2):c.412-11del Deletion Uncertain significance 347299 rs886059007 GRCh37: 4:111539855-111539855
GRCh38: 4:110618699-110618699
34 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.135_155del (p.Ala46_Ala52del) Deletion Uncertain significance 834580 GRCh37: 1:47882114-47882134
GRCh38: 1:47416442-47416462
35 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.838C>T (p.Pro280Ser) SNV Uncertain significance 836896 GRCh37: 1:47882825-47882825
GRCh38: 1:47417153-47417153
36 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.287C>G (p.Ala96Gly) SNV Uncertain significance 837571 GRCh37: 1:47882274-47882274
GRCh38: 1:47416602-47416602
37 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.736G>A (p.Ala246Thr) SNV Uncertain significance 838131 GRCh37: 1:47882723-47882723
GRCh38: 1:47417051-47417051
38 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) SNV Uncertain significance 427852 rs377669670 GRCh37: 1:47882219-47882219
GRCh38: 1:47416547-47416547
39 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser) SNV Uncertain significance 617853 rs745571457 GRCh37: 1:47882321-47882321
GRCh38: 1:47416649-47416649
40 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro) SNV Uncertain significance 856708 GRCh37: 1:47882039-47882039
GRCh38: 1:47416367-47416367
41 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.925C>A (p.Pro309Thr) SNV Uncertain significance 426214 rs1085307504 GRCh37: 1:47882912-47882912
GRCh38: 1:47417240-47417240
42 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.291C>G (p.Ile97Met) SNV Uncertain significance 935371 GRCh37: 1:47882278-47882278
GRCh38: 1:47416606-47416606
43 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.91C>T (p.Pro31Ser) SNV Uncertain significance 939105 GRCh37: 1:47882078-47882078
GRCh38: 1:47416406-47416406
44 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.619G>A (p.Gly207Arg) SNV Uncertain significance 939305 GRCh37: 1:47882606-47882606
GRCh38: 1:47416934-47416934
45 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.709C>T (p.Pro237Ser) SNV Uncertain significance 940300 GRCh37: 1:47882696-47882696
GRCh38: 1:47417024-47417024
46 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.338G>C (p.Arg113Pro) SNV Uncertain significance 941853 GRCh37: 1:47882325-47882325
GRCh38: 1:47416653-47416653
47 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.266G>A (p.Gly89Asp) SNV Uncertain significance 960209 GRCh37: 1:47882253-47882253
GRCh38: 1:47416581-47416581
48 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.854C>T (p.Pro285Leu) SNV Uncertain significance 1007221 GRCh37: 1:47882841-47882841
GRCh38: 1:47417169-47417169
49 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.413A>G (p.Asn138Ser) SNV Uncertain significance 1044928 GRCh37: 1:47882400-47882400
GRCh38: 1:47416728-47416728
50 FOXE3 , LINC01389 NM_012186.3(FOXE3):c.283G>T (p.Ala95Ser) SNV Uncertain significance 1057924 GRCh37: 1:47882270-47882270
GRCh38: 1:47416598-47416598

Expression for Anterior Segment Dysgenesis 1

Search GEO for disease gene expression data for Anterior Segment Dysgenesis 1.

Pathways for Anterior Segment Dysgenesis 1

Pathways related to Anterior Segment Dysgenesis 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.42 PAX6 ITPR1 FOXC1

GO Terms for Anterior Segment Dysgenesis 1

Biological processes related to Anterior Segment Dysgenesis 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 9.67 PITX3 PITX2 FOXE3 FOXC1
2 collagen fibril organization GO:0030199 9.58 PXDN FOXC1 CYP1B1
3 blood vessel morphogenesis GO:0048514 9.52 CYP1B1 COL4A1
4 negative regulation of neurogenesis GO:0050768 9.51 PITX3 PAX6
5 cornea development in camera-type eye GO:0061303 9.49 PAX6 FOXE3
6 positive regulation of core promoter binding GO:1904798 9.48 PAX6 FOXC1
7 lacrimal gland development GO:0032808 9.46 PAX6 FOXC1
8 eye development GO:0001654 9.46 PAX6 FOXE3 FOXC1 CPAMD8
9 retinal blood vessel morphogenesis GO:0061304 9.43 CYP1B1 COL4A1
10 iris morphogenesis GO:0061072 9.43 PITX2 PAX6 FOXE3
11 trabecular meshwork development GO:0002930 9.32 FOXE3 CYP1B1
12 lens development in camera-type eye GO:0002088 9.26 PITX3 PAX6 GJA8 FOXE3
13 camera-type eye development GO:0043010 9.02 PITX2 PAX6 GJA8 FOXE3 FOXC1

Molecular functions related to Anterior Segment Dysgenesis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.02 PITX3 PITX2 PAX6 FOXE3 FOXC1

Sources for Anterior Segment Dysgenesis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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36 KEGG
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41 MedGen
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46 MGI
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
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69 Tocris
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