ASGD4
MCID: ANT071
MIFTS: 48

Anterior Segment Dysgenesis 4 (ASGD4)

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

Aliases & Classifications for Anterior Segment Dysgenesis 4

MalaCards integrated aliases for Anterior Segment Dysgenesis 4:

Name: Anterior Segment Dysgenesis 4 57 12 72 29 6
Iridogoniodysgenesis Syndrome 57 12 54 15
Iridogoniodysgenesis, Type 2 57 13 39 70
Iridogoniodysgenesis Type 2 12 20 72
Irid2 57 20 72
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant 57 72
Iridogoniodysgenesis Type 1 12 20
Igda Syndrome 20 6
Asgd4 57 72
Igds 57 12
Ihga 57 72
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant; Ihga 57
Iridogoniodysgenesis Anomaly, Autosomal Dominant 20
Iridogoniodysgenesis, Type 2; Irid2 57
Iridogoniodysgenesis Syndrome; Igds 57
Iridogoniodysgenesis Syndrome 2 72
Iridogoniodysgenesis, Type 1 70
Irid 1 12
Irid 2 12
Irid1 20
Igds2 72
Igda 20

Characteristics:

OMIM®:

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


HPO:

31
anterior segment dysgenesis 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050786 DOID:0080609
OMIM® 57 137600
OMIM Phenotypic Series 57 PS107250
MeSH 44 D005124
MedGen 41 C1842031
UMLS 70 C1842031 C1866560

Summaries for Anterior Segment Dysgenesis 4

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 ASGD4 have been reported with iridogoniodysgenesis or Peters anomaly subtypes. Iridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by Mears et al., 1996). 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). (137600) (Updated 20-May-2021)

MalaCards based summary : Anterior Segment Dysgenesis 4, also known as iridogoniodysgenesis syndrome, is related to axenfeld-rieger syndrome, type 1 and axenfeld-rieger syndrome. An important gene associated with Anterior Segment Dysgenesis 4 is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. The drugs Immunoglobulin G and Mitogens have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are abnormality of the dentition and glaucoma

Disease Ontology : 12 An anterior segment dysgenesis that has material basis in heterozygous mutation in the PITX2 gene on chromosome 4q25.

GARD : 20 Iridogoniodysgenesis type 1 is a rare condition that affects the eyes. People with this condition are born with malformations of the iris (the colored part of the eye) and cornea, which eventually lead to early-onset glaucoma. The irides of affected people are unusually dark. For example, studies of the condition often describe 'brown' irides as a dark, chocolate color and 'blue' irides as a very dark, slate gray. The iris also lacks the usual pattern and has a smooth appearance. Iridogoniodysgenesis type 1 is caused by changes ( mutations ) in the FOXC1 gene and is inherited in an autosomal dominant manner. Management is based on the signs and symptoms present in each person and is generally focused on the screening and eventual treatment of glaucoma.

UniProtKB/Swiss-Prot : 72 Anterior segment dysgenesis 4: 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. ASGD4 is an autosomal dominant disease.

Related Diseases for Anterior Segment Dysgenesis 4

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 axenfeld-rieger syndrome, type 1 30.4 PITX2 FOXC1 CRYAA
2 axenfeld-rieger syndrome 30.4 PITX2 FOXC1 CRYAA
3 juvenile glaucoma 30.1 PITX2 FOXC1 CRYAA
4 anterior segment dysgenesis 3 11.3
5 interstitial granulomatous dermatitis with arthritis 11.3
6 axenfeld-rieger syndrome, type 2 10.4 PITX2 FOXC1
7 acquired color blindness 10.3 PITX2 FOXC1
8 glaucoma-related pigment dispersion syndrome 10.3 PITX2 FOXC1
9 hydrophthalmos 10.3 PITX2 FOXC1
10 otopalatodigital syndrome, type ii 10.3 PITX2 FOXC1
11 hyperphosphatasia with mental retardation syndrome 1 10.2 PIGV PIGO PIGG
12 glaucoma 3, primary congenital, a 10.2 PITX2 PGAP2 FOXC1
13 paroxysmal nocturnal hemoglobinuria 1 10.2 PIGT PIGA
14 megalocornea 10.2 PITX2 FOXC1
15 congenital muscular dystrophy-dystroglycanopathy type a2 10.2 PIGV PIGL
16 anterior segment dysgenesis 10.2 PITX2 FOXC1 CRYAA
17 intestinal atresia 10.2 PITX2 FOXC1
18 phacogenic glaucoma 10.2 FOXC1 CRYAA
19 cornea plana 10.2 PITX2 FOXC1 CRYAA
20 primary congenital glaucoma 10.1 PITX2 FOXC1 CRYAA
21 sclerocornea 10.1 PITX2 CRYAA
22 axenfeld-rieger syndrome, type 3 10.1 PITX2 FOXC1 CRYAA
23 aniridia 1 10.1 PITX2 FOXC1 CRYAA
24 microphthalmia, syndromic 2 10.1 PITX2 CRYAA
25 corneal disease 10.1 PITX2 FOXC1 CRYAA
26 gillespie syndrome 10.1 PITX2 FOXC1
27 keratitis, hereditary 10.1 PITX2 FOXC1 CRYAA
28 glaucoma, primary open angle 10.1 PITX2 FOXC1 CRYAA
29 anodontia 10.1
30 intraocular pressure quantitative trait locus 10.1 PITX2 FOXC1 CRYAA
31 diaphragmatic hernia, congenital 10.1 PIGW PIGV PIGN PGAP3
32 iris disease 10.1 PITX2 PIGO FOXC1 CRYAA
33 hypotonia 10.0 PIGT PIGN PIGG PIGA
34 anterior segment dysgenesis 1 10.0 PITX2 FOXC1
35 peters-plus syndrome 10.0 PITX2 FOXC1 CRYAA
36 retinal detachment 9.9
37 inguinal hernia 9.9
38 hypospadias 9.9
39 optic nerve disease 9.9
40 muscular dystrophy, congenital, with cataracts and intellectual disability 9.8 PIGY PIGP PIGL PGAP1
41 salt and pepper syndrome 9.8 PIGY PIGT PGAP1 MPPE1
42 multiple congenital anomalies-hypotonia-seizures syndrome 3 9.8 PIGY PIGT PIGQ PIGK PGAP2
43 bleeding disorder, platelet-type, 9 9.8 PIGY PIGT PIGL PIGK PIGA
44 agnathia-otocephaly complex 9.8 PIGW PIGN PGAP1 MPPE1
45 multiple congenital anomalies-hypotonia-seizures syndrome 1 9.6 PIGV PIGT PIGO PIGN PIGL PIGG
46 coloboma of macula 9.6 PITX2 PIGV PIGO PIGL PGAP2 FOXC1
47 hyperphosphatasia-intellectual disability syndrome 9.5 PIGY PIGW PIGV PIGO PIGL PIGG
48 multiple congenital anomalies-hypotonia-seizures syndrome 2 9.1 PIGV PIGT PIGO PIGL PIGG PIGA
49 autosomal recessive non-syndromic intellectual disability 9.0 PIGY PIGV PIGO PIGN PIGL PIGG
50 multiple congenital anomalies-hypotonia-seizures syndrome 8.9 PIGW PIGV PIGT PIGO PIGN PIGL

Graphical network of the top 20 diseases related to Anterior Segment Dysgenesis 4:



Diseases related to Anterior Segment Dysgenesis 4

Symptoms & Phenotypes for Anterior Segment Dysgenesis 4

Human phenotypes related to Anterior Segment Dysgenesis 4:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the dentition 31 hallmark (90%) HP:0000164
2 glaucoma 31 hallmark (90%) HP:0000501
3 iris hypopigmentation 31 hallmark (90%) HP:0007730
4 hypoplastic iris stroma 31 hallmark (90%) HP:0007990
5 abnormal facial shape 31 HP:0001999

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
glaucoma
hypoplastic iris stroma
light colored iris
goniodysgenesis

Clinical features from OMIM®:

137600 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Anterior Segment Dysgenesis 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.55 CRYAA PGAP1 PIGA PIGW PITX2
2 Decreased viability GR00381-A-1 9.55 MPPE1
3 Decreased viability GR00386-A-1 9.55 PIGL PIGO PIGV
4 Decreased viability GR00402-S-2 9.55 CRYAA PGAP2 PGAP3 PIGG PIGK PIGL

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 FOXC1 PGAP1 PIGA PIGN PIGQ PIGV
2 embryo MP:0005380 9.28 FOXC1 PGAP1 PIGA PIGK PIGL PIGN

Drugs & Therapeutics for Anterior Segment Dysgenesis 4

Drugs for Anterior Segment Dysgenesis 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulin G Phase 1
2 Mitogens Phase 1
3 Immunoglobulins Phase 1
4 Immunoglobulins, Intravenous Phase 1
5 Antibodies Phase 1
6 Interleukin-2 Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label, Multicenter, Efficacy and Safety Pilot Study of 6-month Canakinumab Treatment With up to 6-month Follow-up in Patients With Active Hyper-IgD Syndrome (HIDS) Completed NCT01303380 Phase 2 Canakinumab
2 A Phase 1, Randomized, Double-blind, Placebo-controlled, Single Ascending Dose Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of GX-I7 in Healthy Volunteers Completed NCT02860715 Phase 1 GX-I7;Placebo
3 A Phase 1, Randomized, Double-blind, Placebo-controlled, Multiple Ascending Dose Study to Evaluate the Safety and Tolerability of GX-I7 in HPV-infected Female Volunteers Completed NCT03144934 Phase 1 GX-I7;Placebo
4 High Working Memory Load to Reduce IGD Cravings: N-Back Task Unknown status NCT03868501
5 Mental Imagery Tasks to Reduce IGD Cravings: Visual Imagery and Auditory Imagery Unknown status NCT03868488
6 The Behavioral and Brain Mechanism of Internet Gaming Disorder Completed NCT02550405
7 Does Interactive Group Drumming (IGD) Improve the Hospital Experience of Patients Undergoing Hematopoietic Stem Cell Transplant? - A Pilot Study Completed NCT03345433
8 Efficacy and Mechanisms Underlying Emotional Association Bias Modification in Individuals With IGD Recruiting NCT04068064
9 A Randomized Controlled Trial for Evaluating the Efficacy of a Cognitive Behavioral Therapy Intervention in Reducing Internet Gaming Disorder Among Secondary School Students in Hong Kong Not yet recruiting NCT04257890
10 B7 Coreceptor Molecules as Clinically-Relevant Surrogate Biomarkers in the Hyper IgD Syndrome (HIDS) Form of Mevalonate Kinase Deficiency (MKD) Withdrawn NCT01568736

Search NIH Clinical Center for Anterior Segment Dysgenesis 4

Genetic Tests for Anterior Segment Dysgenesis 4

Genetic tests related to Anterior Segment Dysgenesis 4:

# Genetic test Affiliating Genes
1 Anterior Segment Dysgenesis 4 29 PITX2

Anatomical Context for Anterior Segment Dysgenesis 4

MalaCards organs/tissues related to Anterior Segment Dysgenesis 4:

40
Eye

Publications for Anterior Segment Dysgenesis 4

Articles related to Anterior Segment Dysgenesis 4:

(show all 32)
# Title Authors PMID Year
1
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. 57 6 54
9618168 1998
2
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. 57 6
9437321 1998
3
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). 6 57
7581385 1995
4
Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes. 6
32832252 2020
5
4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features. 6
29100920 2018
6
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. 57
27839872 2016
7
PITX2 and FOXC1 spectrum of mutations in ocular syndromes. 6
22569110 2012
8
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. 6
20881294 2011
9
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. 6
19668217 2009
10
Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis. 6
19793056 2009
11
Chromatin-associated HMG-17 is a major regulator of homeodomain transcription factor activity modulated by Wnt/beta-catenin signaling. 6
18045789 2008
12
A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome. 6
19052653 2008
13
Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. 6
17167399 2006
14
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome. 6
16498627 2006
15
PITX2, beta-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoter. 6
15728254 2005
16
Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. 6
12036988 2002
17
Anterior segment dysgenesis and the developmental glaucomas are complex traits. 57
12015278 2002
18
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. 6
11170889 2001
19
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. 6
11007653 2000
20
Multifunctional role of the Pitx2 homeodomain protein C-terminal tail. 6
10490637 1999
21
A mutation in the RIEG1 gene associated with Peters' anomaly. 57
10051017 1999
22
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. 6
9792859 1998
23
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. 6
9620769 1998
24
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. 6
8944018 1996
25
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. 57
8940278 1996
26
Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. 6
8942889 1996
27
Congenital glaucoma due to dominant goniodysgenesis. A new concept of the heredity of glaucoma. 57
6881141 1983
28
Dominant goniodysgenesis with late congenital glaucoma. A re-examination of Berg's pedigree. 57
4624765 1972
29
Familial hypoplasia of the iris stroma associated with glaucoma. 57
5804028 1969
30
Iridoschisis as a cause of glaucoma. 57
14771214 1950
31
Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. 54
10937553 2000
32
Complex microphthalmos. 61
2818283 1989

Variations for Anterior Segment Dysgenesis 4

ClinVar genetic disease variations for Anterior Segment Dysgenesis 4:

6 (show top 50) (show all 91)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXC1 FOXC1, 11-BP DEL Deletion Pathogenic 8451 GRCh37:
GRCh38:
2 FOXC1 NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu) SNV Pathogenic 8452 rs104893957 GRCh37: 6:1611072-1611072
GRCh38: 6:1610837-1610837
3 FOXC1 NM_001453.3(FOXC1):c.378C>G (p.Ile126Met) SNV Pathogenic 8453 rs104893958 GRCh37: 6:1611058-1611058
GRCh38: 6:1610823-1610823
4 FOXC1 FOXC1, DUP Duplication Pathogenic 8456 GRCh37:
GRCh38:
5 FOXC1 FOXC1, 22-BP INS, NT26 Insertion Pathogenic 8457 GRCh37:
GRCh38:
6 FOXC1 NM_001453.3(FOXC1):c.261C>G (p.Ile87Met) SNV Pathogenic 8459 rs104893954 GRCh37: 6:1610941-1610941
GRCh38: 6:1610706-1610706
7 FOXC1 NM_001453.3(FOXC1):c.349del (p.Asp117fs) Deletion Pathogenic 495293 rs1554100953 GRCh37: 6:1611027-1611027
GRCh38: 6:1610792-1610792
8 PITX2 NM_000325.6(PITX2):c.411+2T>G SNV Pathogenic 662470 rs1578450728 GRCh37: 4:111542318-111542318
GRCh38: 4:110621162-110621162
9 PITX2 NC_000004.12:g.(?_110618105)_(110633018_?)del Deletion Pathogenic 832808 GRCh37: 4:111539261-111554174
GRCh38:
10 PITX2 NM_000325.6(PITX2):c.264del (p.Lys89fs) Deletion Pathogenic 837823 GRCh37: 4:111542467-111542467
GRCh38: 4:110621311-110621311
11 PITX2 NM_000325.6(PITX2):c.365G>A (p.Arg122His) SNV Pathogenic 8090 rs104893861 GRCh37: 4:111542366-111542366
GRCh38: 4:110621210-110621210
12 PITX2 NM_000325.6(PITX2):c.409C>T (p.Arg137Trp) SNV Pathogenic 8089 rs121909248 GRCh37: 4:111542322-111542322
GRCh38: 4:110621166-110621166
13 PITX2 NM_000325.6(PITX2):c.373del (p.Ile125fs) Deletion Pathogenic 844916 GRCh37: 4:111542358-111542358
GRCh38: 4:110621202-110621202
14 PITX2 NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter) SNV Pathogenic 639456 rs1578446544 GRCh37: 4:111539722-111539722
GRCh38: 4:110618566-110618566
15 PITX2 NM_000325.6(PITX2):c.416G>C (p.Trp139Ser) SNV Pathogenic 647394 rs772800095 GRCh37: 4:111539840-111539840
GRCh38: 4:110618684-110618684
16 PITX2 NM_000325.6(PITX2):c.522_523delinsAA (p.Tyr174_Asp175delinsTer) Indel Pathogenic 937285 GRCh37: 4:111539733-111539734
GRCh38: 4:110618577-110618578
17 PITX2 NM_000325.6(PITX2):c.383G>A (p.Trp128Ter) SNV Pathogenic 946640 GRCh37: 4:111542348-111542348
GRCh38: 4:110621192-110621192
18 overlap with 4 genes GRCh37/hg19 6p25.3(chr6:1318643-1837594)x3 copy number gain Pathogenic 973776 GRCh37: 6:1307929-1856280
GRCh38:
19 PITX2 NM_000325.6(PITX2):c.164_167dup (p.His57fs) Duplication Pathogenic 1032502 GRCh37: 4:111543449-111543450
GRCh38: 4:110622293-110622294
20 FOXC1 NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) SNV Pathogenic 30156 rs79691946 GRCh37: 6:1611569-1611569
GRCh38: 6:1611334-1611334
21 PITX2 NM_000325.6(PITX2):c.332T>C (p.Phe111Ser) SNV Likely pathogenic 988075 GRCh37: 4:111542399-111542399
GRCh38: 4:110621243-110621243
22 FOXC1 NM_001453.3(FOXC1):c.1157del (p.Gly386fs) Deletion Likely pathogenic 992653 GRCh37: 6:1611832-1611832
GRCh38: 6:1611597-1611597
23 PITX2 NM_000325.6(PITX2):c.361dup (p.Thr121fs) Duplication Likely pathogenic 474010 rs1553922891 GRCh37: 4:111542369-111542370
GRCh38: 4:110621213-110621214
24 PITX2 NM_000325.6(PITX2):c.412-2A>G SNV Likely pathogenic 474011 rs1553922583 GRCh37: 4:111539846-111539846
GRCh38: 4:110618690-110618690
25 PITX2 NC_000004.12:g.(?_110618181)_(110621345_?)del Deletion Likely pathogenic 474009 GRCh37: 4:111539337-111542501
GRCh38: 4:110618181-110621345
26 PITX2 NM_000325.6(PITX2):c.*611A>G SNV Uncertain significance 347288 rs886059002 GRCh37: 4:111538670-111538670
GRCh38: 4:110617514-110617514
27 PITX2 NM_000325.6(PITX2):c.412-11del Deletion Uncertain significance 347299 rs886059007 GRCh37: 4:111539855-111539855
GRCh38: 4:110618699-110618699
28 PITX2 NM_000325.6(PITX2):c.*373_*375GTT[1] Microsatellite Uncertain significance 347292 rs886059004 GRCh37: 4:111538903-111538905
GRCh38: 4:110617747-110617749
29 PITX2 NM_000325.6(PITX2):c.*572T>C SNV Uncertain significance 347289 rs886059003 GRCh37: 4:111538709-111538709
GRCh38: 4:110617553-110617553
30 PITX2 NM_000325.6(PITX2):c.*370G>C SNV Uncertain significance 347293 rs886059005 GRCh37: 4:111538911-111538911
GRCh38: 4:110617755-110617755
31 PITX2 NM_000325.6(PITX2):c.*522T>C SNV Uncertain significance 347290 rs188349821 GRCh37: 4:111538759-111538759
GRCh38: 4:110617603-110617603
32 FOXC1 NM_001453.3(FOXC1):c.532G>C (p.Asp178His) SNV Uncertain significance 469653 rs751970827 GRCh37: 6:1611212-1611212
GRCh38: 6:1610977-1610977
33 PITX2 NM_000325.6(PITX2):c.412-7C>T SNV Uncertain significance 899414 GRCh37: 4:111539851-111539851
GRCh38: 4:110618695-110618695
34 PITX2 NM_153427.2(PITX2):c.-40G>A SNV Uncertain significance 899457 GRCh37: 4:111557966-111557966
GRCh38: 4:110636810-110636810
35 PITX2 NM_153427.2(PITX2):c.-245G>A SNV Uncertain significance 899519 GRCh37: 4:111558171-111558171
GRCh38: 4:110637015-110637015
36 PITX2 NM_153427.2(PITX2):c.-270A>G SNV Uncertain significance 899520 GRCh37: 4:111558196-111558196
GRCh38: 4:110637040-110637040
37 PITX2 NM_153427.2(PITX2):c.-429C>G SNV Uncertain significance 899596 GRCh37: 4:111558355-111558355
GRCh38: 4:110637199-110637199
38 PITX2 NM_153427.2(PITX2):c.-436G>C SNV Uncertain significance 899597 GRCh37: 4:111558362-111558362
GRCh38: 4:110637206-110637206
39 PITX2 NM_153427.2(PITX2):c.-501T>G SNV Uncertain significance 899665 GRCh37: 4:111558427-111558427
GRCh38: 4:110637271-110637271
40 PITX2 NM_153427.2(PITX2):c.-966A>G SNV Uncertain significance 899731 GRCh37: 4:111558892-111558892
GRCh38: 4:110637736-110637736
41 PITX2 NM_153427.2(PITX2):c.-1078C>A SNV Uncertain significance 899796 GRCh37: 4:111559004-111559004
GRCh38: 4:110637848-110637848
42 PITX2 NM_000325.6(PITX2):c.916G>A (p.Val306Met) SNV Uncertain significance 648326 rs760790139 GRCh37: 4:111539340-111539340
GRCh38: 4:110618184-110618184
43 PITX2 NM_153427.2(PITX2):c.-1092G>A SNV Uncertain significance 899797 GRCh37: 4:111559018-111559018
GRCh38: 4:110637862-110637862
44 PITX2 NM_153427.2(PITX2):c.-1422C>A SNV Uncertain significance 899914 GRCh37: 4:111563112-111563112
GRCh38: 4:110641956-110641956
45 PITX2 NM_153427.2(PITX2):c.-1491G>A SNV Uncertain significance 901089 GRCh37: 4:111563181-111563181
GRCh38: 4:110642025-110642025
46 PITX2 NM_000325.6(PITX2):c.*696A>C SNV Uncertain significance 901346 GRCh37: 4:111538585-111538585
GRCh38: 4:110617429-110617429
47 PITX2 NM_000325.6(PITX2):c.*107A>C SNV Uncertain significance 901514 GRCh37: 4:111539174-111539174
GRCh38: 4:110618018-110618018
48 PITX2 NM_000325.6(PITX2):c.941G>A (p.Ser314Asn) SNV Uncertain significance 849729 GRCh37: 4:111539315-111539315
GRCh38: 4:110618159-110618159
49 PITX2 NM_000325.6(PITX2):c.*173G>A SNV Uncertain significance 900360 GRCh37: 4:111539108-111539108
GRCh38: 4:110617952-110617952
50 PITX2 NM_000325.6(PITX2):c.282G>T (p.Arg94=) SNV Uncertain significance 900537 GRCh37: 4:111542449-111542449
GRCh38: 4:110621293-110621293

UniProtKB/Swiss-Prot genetic disease variations for Anterior Segment Dysgenesis 4:

72
# Symbol AA change Variation ID SNP ID
1 PITX2 p.Arg130Trp VAR_003762 rs121909248
2 PITX2 p.Arg115His VAR_003765 rs104893861

Expression for Anterior Segment Dysgenesis 4

Search GEO for disease gene expression data for Anterior Segment Dysgenesis 4.

Pathways for Anterior Segment Dysgenesis 4

Pathways related to Anterior Segment Dysgenesis 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 PIGY PIGW PIGV PIGT PIGQ PIGP
2
Show member pathways
13.39 PIGW PIGV PIGT PIGQ PIGP PIGO
3
Show member pathways
11.76 PIGW PIGV PIGT PIGQ PIGP PIGO
4
Show member pathways
11.08 PIGY PIGW PIGV PIGT PIGQ PIGP

GO Terms for Anterior Segment Dysgenesis 4

Cellular components related to Anterior Segment Dysgenesis 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.25 PIGY PIGW PIGV PIGT PIGQ PIGP
2 integral component of membrane GO:0016021 10.19 PIGY PIGW PIGV PIGT PIGQ PIGP
3 endoplasmic reticulum GO:0005783 10 PIGY PIGW PIGV PIGT PIGO PIGN
4 endoplasmic reticulum membrane GO:0005789 9.53 PIGY PIGW PIGV PIGT PIGQ PIGP
5 GPI-anchor transamidase complex GO:0042765 9.37 PIGT PIGK
6 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 9.35 PIGY PIGQ PIGP PIGC PIGA

Biological processes related to Anterior Segment Dysgenesis 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 preassembly of GPI anchor in ER membrane GO:0016254 9.65 PIGY PIGW PIGV PIGQ PIGP PIGN
2 GPI anchor biosynthetic process GO:0006506 9.55 PIGY PIGW PIGV PIGT PIGQ PIGP
3 attachment of GPI anchor to protein GO:0016255 9.43 PIGT PIGK PGAP1
4 GPI anchor metabolic process GO:0006505 9.33 PIGW PGAP3 PGAP1

Molecular functions related to Anterior Segment Dysgenesis 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.91 PIGW PIGV PIGQ PIGP PIGO PIGN
2 transferase activity, transferring glycosyl groups GO:0016757 9.55 PIGV PIGQ PIGP PIGC PIGA
3 hydrolase activity, acting on ester bonds GO:0016788 9.37 PGAP3 PGAP1
4 GPI anchor binding GO:0034235 9.32 PIGK MPPE1
5 mannose-ethanolamine phosphotransferase activity GO:0051377 9.13 PIGO PIGN PIGG
6 phosphatidylinositol N-acetylglucosaminyltransferase activity GO:0017176 9.02 PIGY PIGQ PIGP PIGC PIGA

Sources for Anterior Segment Dysgenesis 4

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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