MCID: AXN010
MIFTS: 39

Axenfeld-Rieger Syndrome, Type 3

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

Aliases & Classifications for Axenfeld-Rieger Syndrome, Type 3

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

Name: Axenfeld-Rieger Syndrome, Type 3 53 13 69
Anterior Segment Mesenchymal Dysgenesis 12 71 69
Anterior Chamber Cleavage Syndrome 53 12 71
Axenfeld-Rieger Syndrome Type 3 12 28 14
Rieg3 53 12 71
Axenfeld-Rieger Anomaly with or Without Cardiac Defects and/or Sensorineural Hearing Loss 12 71
Axenfeld-Rieger Anomaly with Cardiac Defects and/or Sensorineural Hearing Loss 53 71
Axenfeld-Rieger Anomaly 71 28
Rieger Syndrome Type 3 12 71
Rieger Eye Malformation Sequence 69
Axenfeld-Rieger Syndrome 3 71
Rieger Syndrome, Type 3 53
Axenfeld Anomaly 71
Rieger Syndrome 69
Rieger Anomaly 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

31
axenfeld-rieger syndrome, type 3:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Axenfeld-Rieger Syndrome, Type 3

UniProtKB/Swiss-Prot : 71 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 anterior segment mesenchymal dysgenesis, is related to axenfeld-rieger syndrome and aniridia 1, and has symptoms including malar flattening, hypertelorism and sensorineural hearing impairment. 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.

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:

53
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:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 hypertelorism 31 HP:0000316
3 sensorineural hearing impairment 31 HP:0000407
4 patent ductus arteriosus 31 HP:0001643
5 concave nasal ridge 31 HP:0011120
6 microdontia 31 HP:0000691
7 atrial septal defect 31 HP:0001631
8 glaucoma 31 HP:0000501
9 hypoplasia of the iris 31 HP:0007676
10 posterior embryotoxon 31 HP:0000627
11 hypodontia 31 HP:0000668
12 midface retrusion 31 HP:0011800
13 proptosis 31 HP:0000520
14 ectopia pupillae 31 HP:0009918
15 cerebellar vermis hypoplasia 31 HP:0001320

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 28
2 Axenfeld-Rieger Syndrome Type 3 28 FOXC1

Anatomical Context for Axenfeld-Rieger Syndrome, Type 3

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

38
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:

71 (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 all 21)
# 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.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs104893952 GRCh37 Chromosome 6, 1610747: 1610747
3 FOXC1 NM_001453.2(FOXC1): c.245G> C (p.Ser82Thr) single nucleotide variant Pathogenic rs104893953 GRCh37 Chromosome 6, 1610925: 1610925
4 FOXC1 NM_001453.2(FOXC1): c.358C> T (p.Gln120Ter) single nucleotide variant Pathogenic rs121909339 GRCh37 Chromosome 6, 1611038: 1611038
5 FOXC1 NM_001453.2(FOXC1): c.256C> T (p.Leu86Phe) single nucleotide variant Pathogenic/Likely pathogenic rs886039568 GRCh37 Chromosome 6, 1610936: 1610936
6 FOXC1 NM_001453.2(FOXC1): c.290dupA (p.Lys98Glufs) duplication Pathogenic rs886044143 GRCh37 Chromosome 6, 1610970: 1610970
7 FOXC1 NC_000006.12: g.(?_1610445)_(1612107_?)del deletion Pathogenic GRCh38 Chromosome 6, 1610445: 1612107
8 FOXC1 NM_001453.2(FOXC1): c.100_109delGGGGGCGGCT (p.Gly34Thrfs) deletion Pathogenic rs1057519471 GRCh37 Chromosome 6, 1610780: 1610789
9 FOXC1 NM_001453.2(FOXC1): c.116_123delCCATGCCG (p.Ala39Glyfs) deletion Pathogenic rs1057519472 GRCh38 Chromosome 6, 1610561: 1610568
10 FOXC1 NM_001453.2(FOXC1): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs1057519475 GRCh38 Chromosome 6, 1610761: 1610761
11 FOXC1 NM_001453.2(FOXC1): c.487G> T (p.Glu163Ter) single nucleotide variant Pathogenic rs1057519477 GRCh37 Chromosome 6, 1611167: 1611167
12 FOXC1 NM_001453.2(FOXC1): c.599_617del19 (p.Gln200Argfs) deletion Pathogenic rs1057519478 GRCh37 Chromosome 6, 1611279: 1611297
13 FOXC1 NM_001453.2(FOXC1): c.666_681del16 (p.Ile223Profs) deletion Pathogenic rs1057519479 GRCh38 Chromosome 6, 1611111: 1611126
14 FOXC1 NM_001453.2(FOXC1): c.718_719delCT (p.Leu240Valfs) deletion Pathogenic rs1057519480 GRCh38 Chromosome 6, 1611163: 1611164
15 FOXC1 NM_001453.2(FOXC1): c.925_949del25 (p.Ser309Cysfs) deletion Pathogenic rs1057519481 GRCh38 Chromosome 6, 1611370: 1611394
16 FOXC1 NM_001453.2(FOXC1): c.1265C> A (p.Ser422Ter) single nucleotide variant Pathogenic rs1057519482 GRCh38 Chromosome 6, 1611710: 1611710
17 FOXC1 NM_001453.2(FOXC1): c.1491C> G (p.Tyr497Ter) single nucleotide variant Pathogenic rs760676014 GRCh38 Chromosome 6, 1611936: 1611936
18 der(6)t(6;10)(p25.2;q26.3) Translocation Pathogenic
19 FOXC1 GRCh37/hg19 6p25.3(chr6: 951385-1832936)x3 copy number gain Pathogenic GRCh37 Chromosome 6, 951385: 1832936
20 FOXC1 NM_001453.2(FOXC1): c.192C> G (p.Tyr64Ter) single nucleotide variant Pathogenic rs368260972 GRCh37 Chromosome 6, 1610872: 1610872
21 FOXC1 NC_000006.12: g.(?_1610426)_(1612841_?)del deletion Pathogenic GRCh38 Chromosome 6, 1610426: 1612841

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 9.37 FOXC1 PITX2
2 heart development GO:0007507 9.32 FOXC1 PITX2
3 in utero embryonic development GO:0001701 9.26 FOXC1 PITX2
4 camera-type eye development GO:0043010 9.16 FOXC1 PITX2
5 odontogenesis of dentin-containing tooth GO:0042475 8.96 FOXC1 PITX2
6 positive regulation of DNA binding GO:0043388 8.62 FOXC1 PITX2

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 8.62 FOXC1 PITX2

Sources for Axenfeld-Rieger Syndrome, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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