MCID: AXN010
MIFTS: 39

Axenfeld-Rieger Syndrome, Type 3

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

Aliases & Classifications for Axenfeld-Rieger Syndrome, Type 3

MalaCards integrated aliases for Axenfeld-Rieger Syndrome, Type 3:

Name: Axenfeld-Rieger Syndrome, Type 3 57 13 40 73
Axenfeld-Rieger Syndrome Type 3 12 29 6 15
Anterior Segment Mesenchymal Dysgenesis 12 75 73
Anterior Chamber Cleavage Syndrome 57 12 75
Rieg3 57 12 75
Axenfeld-Rieger Anomaly with or Without Cardiac Defects and/or Sensorineural Hearing Loss 12 75
Axenfeld-Rieger Anomaly with Cardiac Defects and/or Sensorineural Hearing Loss 57 75
Axenfeld-Rieger Anomaly 75 29
Rieger Syndrome Type 3 12 75
Rieger Eye Malformation Sequence 73
Axenfeld-Rieger Syndrome 3 75
Rieger Syndrome, Type 3 57
Axenfeld Anomaly 75
Rieger Syndrome 73
Rieger Anomaly 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

32
axenfeld-rieger syndrome, type 3:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Axenfeld-Rieger Syndrome, Type 3

UniProtKB/Swiss-Prot : 75 Axenfeld-Rieger syndrome 3: An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome.

MalaCards based summary : Axenfeld-Rieger Syndrome, Type 3, also known as axenfeld-rieger syndrome type 3, is related to axenfeld-rieger syndrome and anterior segment dysgenesis. An important gene associated with Axenfeld-Rieger Syndrome, Type 3 is FOXC1 (Forkhead Box C1), and among its related pathways/superpathways is Heart Development. Affiliated tissues include eye and skin, and related phenotypes are malar flattening and hypertelorism

Disease Ontology : 12 An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the FOXC1 gene on chromosome 6p25.

Description from OMIM: 602482

Related Diseases for Axenfeld-Rieger Syndrome, Type 3

Graphical network of the top 20 diseases related to Axenfeld-Rieger Syndrome, Type 3:



Diseases related to Axenfeld-Rieger Syndrome, Type 3

Symptoms & Phenotypes for Axenfeld-Rieger Syndrome, Type 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
glaucoma
iris hypoplasia
prominent eyes
corectopia
more
Cardiovascular Heart:
atrial septal defect
valvular defects

Head And Neck Face:
flat midface

Head And Neck Ears:
hearing loss, sensorineural

Abdomen External Features:
umbilical defect (redundant periumbilical skin)

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Teeth:
hypodontia
small teeth

Neurologic Central Nervous System:
cerebellar vermis hypoplasia

Head And Neck Nose:
saddle nose


Clinical features from OMIM:

602482

Human phenotypes related to Axenfeld-Rieger Syndrome, Type 3:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 sensorineural hearing impairment 32 HP:0000407
4 glaucoma 32 HP:0000501
5 proptosis 32 HP:0000520
6 posterior embryotoxon 32 HP:0000627
7 hypodontia 32 HP:0000668
8 microdontia 32 HP:0000691
9 cerebellar vermis hypoplasia 32 HP:0001320
10 atrial septal defect 32 HP:0001631
11 patent ductus arteriosus 32 HP:0001643
12 hypoplasia of the iris 32 HP:0007676
13 ectopia pupillae 32 HP:0009918
14 concave nasal ridge 32 HP:0011120
15 midface retrusion 32 HP:0011800

Drugs & Therapeutics for Axenfeld-Rieger Syndrome, Type 3

Search Clinical Trials , NIH Clinical Center for Axenfeld-Rieger Syndrome, Type 3

Genetic Tests for Axenfeld-Rieger Syndrome, Type 3

Genetic tests related to Axenfeld-Rieger Syndrome, Type 3:

# Genetic test Affiliating Genes
1 Axenfeld-Rieger Anomaly 29
2 Axenfeld-Rieger Syndrome Type 3 29 FOXC1

Anatomical Context for Axenfeld-Rieger Syndrome, Type 3

MalaCards organs/tissues related to Axenfeld-Rieger Syndrome, Type 3:

41
Eye, Skin

Publications for Axenfeld-Rieger Syndrome, Type 3

Articles related to Axenfeld-Rieger Syndrome, Type 3:

# Title Authors Year
1
Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. ( 18989383 )
2008
2
Unilateral congenital corneal keloid with anterior segment mesenchymal dysgenesis and subluxated lens: case report and review of literature. ( 17198027 )
2007
3
Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome. ( 11805525 )
2002
4
Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2. ( 2013025 )
1991
5
Anterior segment mesenchymal dysgenesis: probable linkage to the MNS blood group on chromosome 4. ( 6978612 )
1982
6
Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. ( 6801987 )
1982

Variations for Axenfeld-Rieger Syndrome, Type 3

UniProtKB/Swiss-Prot genetic disease variations for Axenfeld-Rieger Syndrome, Type 3:

75 (show all 23)
# Symbol AA change Variation ID SNP ID
1 FOXC1 p.Phe112Ser VAR_007815 rs104893951
2 FOXC1 p.Ile126Met VAR_007816 rs104893958
3 FOXC1 p.Ser131Leu VAR_007817 rs104893957
4 FOXC1 p.Ser82Thr VAR_007944 rs104893953
5 FOXC1 p.Ile87Met VAR_007945 rs104893954
6 FOXC1 p.Met161Lys VAR_018150
7 FOXC1 p.Pro79Leu VAR_058722
8 FOXC1 p.Pro79Arg VAR_058723
9 FOXC1 p.Pro79Thr VAR_058724
10 FOXC1 p.Leu86Phe VAR_058725 rs886039568
11 FOXC1 p.Ile91Ser VAR_058726
12 FOXC1 p.Ile91Thr VAR_058727
13 FOXC1 p.Tyr115Ser VAR_058728
14 FOXC1 p.Arg127His VAR_058729
15 FOXC1 p.Leu130Phe VAR_058730 rs121909338
16 FOXC1 p.Gly149Asp VAR_058731
17 FOXC1 p.Met161Val VAR_058732
18 FOXC1 p.Gly165Arg VAR_058733
19 FOXC1 p.Arg169Pro VAR_058734
20 FOXC1 p.Ile126Ser VAR_078503 rs483352810
21 FOXC1 p.Arg127Leu VAR_078504
22 FOXC1 p.His128Arg VAR_078505
23 FOXC1 p.Cys135Tyr VAR_078507

ClinVar genetic disease variations for Axenfeld-Rieger Syndrome, Type 3:

6
(show top 50) (show all 85)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXC1 NM_001453.2(FOXC1): c.335T> C (p.Phe112Ser) single nucleotide variant Pathogenic rs104893951 GRCh37 Chromosome 6, 1611015: 1611015
2 FOXC1 NM_001453.2(FOXC1): c.335T> C (p.Phe112Ser) single nucleotide variant Pathogenic rs104893951 GRCh38 Chromosome 6, 1610780: 1610780
3 FOXC1 NM_001453.2(FOXC1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs104893952 GRCh37 Chromosome 6, 1610747: 1610747
4 FOXC1 NM_001453.2(FOXC1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs104893952 GRCh38 Chromosome 6, 1610512: 1610512
5 FOXC1 NM_001453.2(FOXC1): c.245G> C (p.Ser82Thr) single nucleotide variant Pathogenic rs104893953 GRCh37 Chromosome 6, 1610925: 1610925
6 FOXC1 NM_001453.2(FOXC1): c.245G> C (p.Ser82Thr) single nucleotide variant Pathogenic rs104893953 GRCh38 Chromosome 6, 1610690: 1610690
7 FOXC1 NM_001453.2(FOXC1): c.358C> T (p.Gln120Ter) single nucleotide variant Pathogenic rs121909339 GRCh37 Chromosome 6, 1611038: 1611038
8 FOXC1 NM_001453.2(FOXC1): c.358C> T (p.Gln120Ter) single nucleotide variant Pathogenic rs121909339 GRCh38 Chromosome 6, 1610803: 1610803
9 FOXC1 NM_001453.2(FOXC1): c.405C> T (p.Cys135=) single nucleotide variant Benign rs2230096 GRCh37 Chromosome 6, 1611085: 1611085
10 FOXC1 NM_001453.2(FOXC1): c.405C> T (p.Cys135=) single nucleotide variant Benign rs2230096 GRCh38 Chromosome 6, 1610850: 1610850
11 FOXC1 NM_001453.2(FOXC1): c.502C> T (p.Leu168=) single nucleotide variant Benign rs148739656 GRCh37 Chromosome 6, 1611182: 1611182
12 FOXC1 NM_001453.2(FOXC1): c.502C> T (p.Leu168=) single nucleotide variant Benign rs148739656 GRCh38 Chromosome 6, 1610947: 1610947
13 FOXC1 NM_001453.2(FOXC1): c.1563T> G (p.Ser521=) single nucleotide variant Benign rs73406891 GRCh37 Chromosome 6, 1612243: 1612243
14 FOXC1 NM_001453.2(FOXC1): c.1563T> G (p.Ser521=) single nucleotide variant Benign rs73406891 GRCh38 Chromosome 6, 1612008: 1612008
15 FOXC1 NM_001453.2(FOXC1): c.256C> T (p.Leu86Phe) single nucleotide variant Pathogenic rs886039568 GRCh37 Chromosome 6, 1610936: 1610936
16 FOXC1 NM_001453.2(FOXC1): c.256C> T (p.Leu86Phe) single nucleotide variant Pathogenic rs886039568 GRCh38 Chromosome 6, 1610701: 1610701
17 FOXC1 NM_001453.2(FOXC1): c.290dupA (p.Lys98Glufs) duplication Pathogenic rs886044143 GRCh37 Chromosome 6, 1610970: 1610970
18 FOXC1 NM_001453.2(FOXC1): c.290dupA (p.Lys98Glufs) duplication Pathogenic rs886044143 GRCh38 Chromosome 6, 1610735: 1610735
19 FOXC1 NC_000006.12: g.(?_1610445)_(1612107_?)del deletion Pathogenic GRCh38 Chromosome 6, 1610445: 1612107
20 FOXC1 NC_000006.12: g.(?_1610445)_(1612107_?)del deletion Pathogenic GRCh37 Chromosome 6, 1610680: 1612342
21 FOXC1 NM_001453.2(FOXC1): c.100_109delGGGGGCGGCT (p.Gly34Thrfs) deletion Pathogenic rs1057519471 GRCh37 Chromosome 6, 1610780: 1610789
22 FOXC1 NM_001453.2(FOXC1): c.100_109delGGGGGCGGCT (p.Gly34Thrfs) deletion Pathogenic rs1057519471 GRCh38 Chromosome 6, 1610545: 1610554
23 FOXC1 NM_001453.2(FOXC1): c.116_123delCCATGCCG (p.Ala39Glyfs) deletion Pathogenic rs1057519472 GRCh38 Chromosome 6, 1610561: 1610568
24 FOXC1 NM_001453.2(FOXC1): c.116_123delCCATGCCG (p.Ala39Glyfs) deletion Pathogenic rs1057519472 GRCh37 Chromosome 6, 1610796: 1610803
25 FOXC1 NM_001453.2(FOXC1): c.268G> A (p.Ala90Thr) single nucleotide variant Uncertain significance rs1057519473 GRCh38 Chromosome 6, 1610713: 1610713
26 FOXC1 NM_001453.2(FOXC1): c.268G> A (p.Ala90Thr) single nucleotide variant Uncertain significance rs1057519473 GRCh37 Chromosome 6, 1610948: 1610948
27 FOXC1 NM_001453.2(FOXC1): c.269C> A (p.Ala90Asp) single nucleotide variant Uncertain significance rs1057519474 GRCh37 Chromosome 6, 1610949: 1610949
28 FOXC1 NM_001453.2(FOXC1): c.269C> A (p.Ala90Asp) single nucleotide variant Uncertain significance rs1057519474 GRCh38 Chromosome 6, 1610714: 1610714
29 FOXC1 NM_001453.2(FOXC1): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs1057519475 GRCh38 Chromosome 6, 1610761: 1610761
30 FOXC1 NM_001453.2(FOXC1): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs1057519475 GRCh37 Chromosome 6, 1610996: 1610996
31 FOXC1 NM_001453.2(FOXC1): c.457A> C (p.Thr153Pro) single nucleotide variant Uncertain significance rs1057519476 GRCh37 Chromosome 6, 1611137: 1611137
32 FOXC1 NM_001453.2(FOXC1): c.457A> C (p.Thr153Pro) single nucleotide variant Uncertain significance rs1057519476 GRCh38 Chromosome 6, 1610902: 1610902
33 FOXC1 NM_001453.2(FOXC1): c.487G> T (p.Glu163Ter) single nucleotide variant Pathogenic rs1057519477 GRCh37 Chromosome 6, 1611167: 1611167
34 FOXC1 NM_001453.2(FOXC1): c.487G> T (p.Glu163Ter) single nucleotide variant Pathogenic rs1057519477 GRCh38 Chromosome 6, 1610932: 1610932
35 FOXC1 NM_001453.2(FOXC1): c.599_617del19 (p.Gln200Argfs) deletion Pathogenic rs1057519478 GRCh37 Chromosome 6, 1611279: 1611297
36 FOXC1 NM_001453.2(FOXC1): c.599_617del19 (p.Gln200Argfs) deletion Pathogenic rs1057519478 GRCh38 Chromosome 6, 1611044: 1611062
37 FOXC1 NM_001453.2(FOXC1): c.666_681del16 (p.Ile223Profs) deletion Pathogenic rs1057519479 GRCh38 Chromosome 6, 1611111: 1611126
38 FOXC1 NM_001453.2(FOXC1): c.666_681del16 (p.Ile223Profs) deletion Pathogenic rs1057519479 GRCh37 Chromosome 6, 1611346: 1611361
39 FOXC1 NM_001453.2(FOXC1): c.718_719delCT (p.Leu240Valfs) deletion Pathogenic rs1057519480 GRCh38 Chromosome 6, 1611163: 1611164
40 FOXC1 NM_001453.2(FOXC1): c.718_719delCT (p.Leu240Valfs) deletion Pathogenic rs1057519480 GRCh37 Chromosome 6, 1611398: 1611399
41 FOXC1 NM_001453.2(FOXC1): c.925_949del25 (p.Ser309Cysfs) deletion Pathogenic rs1057519481 GRCh38 Chromosome 6, 1611370: 1611394
42 FOXC1 NM_001453.2(FOXC1): c.925_949del25 (p.Ser309Cysfs) deletion Pathogenic rs1057519481 GRCh37 Chromosome 6, 1611605: 1611629
43 FOXC1 NM_001453.2(FOXC1): c.1265C> A (p.Ser422Ter) single nucleotide variant Pathogenic rs1057519482 GRCh38 Chromosome 6, 1611710: 1611710
44 FOXC1 NM_001453.2(FOXC1): c.1265C> A (p.Ser422Ter) single nucleotide variant Pathogenic rs1057519482 GRCh37 Chromosome 6, 1611945: 1611945
45 FOXC1 NM_001453.2(FOXC1): c.1491C> G (p.Tyr497Ter) single nucleotide variant Pathogenic rs760676014 GRCh38 Chromosome 6, 1611936: 1611936
46 FOXC1 NM_001453.2(FOXC1): c.1491C> G (p.Tyr497Ter) single nucleotide variant Pathogenic rs760676014 GRCh37 Chromosome 6, 1612171: 1612171
47 der(6)t(6;10)(p25.2;q26.3) Translocation Pathogenic
48 FOXC1 GRCh37/hg19 6p25.3(chr6: 951385-1832936)x3 copy number gain Pathogenic GRCh37 Chromosome 6, 951385: 1832936
49 FOXC1 NM_001453.2(FOXC1): c.380G> T (p.Arg127Leu) single nucleotide variant Likely pathogenic rs1085307884 GRCh37 Chromosome 6, 1611060: 1611060
50 FOXC1 NM_001453.2(FOXC1): c.380G> T (p.Arg127Leu) single nucleotide variant Likely pathogenic rs1085307884 GRCh38 Chromosome 6, 1610825: 1610825

Expression for Axenfeld-Rieger Syndrome, Type 3

Search GEO for disease gene expression data for Axenfeld-Rieger Syndrome, Type 3.

Pathways for Axenfeld-Rieger Syndrome, Type 3

Pathways related to Axenfeld-Rieger Syndrome, Type 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.29 FOXC1 PITX2

GO Terms for Axenfeld-Rieger Syndrome, Type 3

Biological processes related to Axenfeld-Rieger Syndrome, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.4 FOXC1 PITX2
2 heart development GO:0007507 9.37 FOXC1 PITX2
3 in utero embryonic development GO:0001701 9.32 FOXC1 PITX2
4 anatomical structure morphogenesis GO:0009653 9.26 FOXC1 PITX2
5 camera-type eye development GO:0043010 9.16 FOXC1 PITX2
6 odontogenesis of dentin-containing tooth GO:0042475 8.96 FOXC1 PITX2
7 positive regulation of DNA binding GO:0043388 8.62 FOXC1 PITX2

Sources for Axenfeld-Rieger Syndrome, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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