MCID: AXN012
MIFTS: 34

Axenfeld-Rieger Syndrome, Type 2

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

Aliases & Classifications for Axenfeld-Rieger Syndrome, Type 2

MalaCards integrated aliases for Axenfeld-Rieger Syndrome, Type 2:

Name: Axenfeld-Rieger Syndrome, Type 2 57 40
Axenfeld-Rieger Syndrome Type 2 12 29 15
Rieger Syndrome, Type 2 57 13
Rieg2 57 12
Rieger Syndrome Type 2 12
Rieger Syndrome 2 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
axenfeld-rieger syndrome, type 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Axenfeld-Rieger Syndrome, Type 2

OMIM : 57 Axenfeld-Rieger syndrome is a disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, which results in blindness from glaucoma in approximately 50% of affected individuals. Systemic abnormalities, including cardiac and dental anomalies, are associated. For a general phenotypic description and a discussion of genetic heterogeneity and nomenclature of Axenfeld-Rieger syndrome, see RIEG1 (180500). (601499)

MalaCards based summary : Axenfeld-Rieger Syndrome, Type 2, also known as axenfeld-rieger syndrome type 2, is related to axenfeld-rieger syndrome, type 3 and axenfeld-rieger syndrome. An important gene associated with Axenfeld-Rieger Syndrome, Type 2 is RIEG2 (Rieger Syndrome 2), and among its related pathways/superpathways is Heart Development. Affiliated tissues include eye, heart and skin, and related phenotypes are inguinal hernia and cryptorchidism

Disease Ontology : 12 An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14.

Related Diseases for Axenfeld-Rieger Syndrome, Type 2

Graphical network of the top 20 diseases related to Axenfeld-Rieger Syndrome, Type 2:



Diseases related to Axenfeld-Rieger Syndrome, Type 2

Symptoms & Phenotypes for Axenfeld-Rieger Syndrome, Type 2

Symptoms via clinical synopsis from OMIM:

57
Eyes:
hypertelorism
corneal opacity
blindness
telecanthus
glaucoma
more
Teeth:
microdontia
hypodontia
cone-shaped teeth

Nose:
short philtrum
broad nasal root

Facies:
maxillary hypoplasia
mild prognathism

Mouth:
protruding lower lip

Ear:
hearing defect
abnormal ear

Abdomen:
inguinal hernia
umbilical hernia
no failure of involution of periumbilical skin

GU:
cryptorchidism
hypospadias
fetal lobulations of kidney

GI:
anal stenosis

Cardiac:
congenital heart defect

Neuro:
hydrocephaly

Joints:
congenital hip anomalies


Clinical features from OMIM:

601499

Human phenotypes related to Axenfeld-Rieger Syndrome, Type 2:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 HP:0000023
2 cryptorchidism 32 HP:0000028
3 hypospadias 32 HP:0000047
4 everted lower lip vermilion 32 HP:0000232
5 hydrocephalus 32 HP:0000238
6 mandibular prognathia 32 HP:0000303
7 hypertelorism 32 HP:0000316
8 short philtrum 32 HP:0000322
9 hypoplasia of the maxilla 32 HP:0000327
10 hearing impairment 32 HP:0000365
11 wide nasal bridge 32 HP:0000431
12 microcornea 32 HP:0000482
13 glaucoma 32 HP:0000501
14 telecanthus 32 HP:0000506
15 blindness 32 HP:0000618
16 hypodontia 32 HP:0000668
17 microdontia 32 HP:0000691
18 umbilical hernia 32 HP:0001537
19 abnormal heart morphology 32 HP:0001627
20 anal stenosis 32 HP:0002025
21 opacification of the corneal stroma 32 HP:0007759
22 anterior chamber synechiae 32 HP:0007833
23 abnormality of cardiovascular system morphology 32 HP:0030680

Drugs & Therapeutics for Axenfeld-Rieger Syndrome, Type 2

Search Clinical Trials , NIH Clinical Center for Axenfeld-Rieger Syndrome, Type 2

Genetic Tests for Axenfeld-Rieger Syndrome, Type 2

Genetic tests related to Axenfeld-Rieger Syndrome, Type 2:

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

Anatomical Context for Axenfeld-Rieger Syndrome, Type 2

MalaCards organs/tissues related to Axenfeld-Rieger Syndrome, Type 2:

41
Eye, Heart, Skin, Kidney

Publications for Axenfeld-Rieger Syndrome, Type 2

Variations for Axenfeld-Rieger Syndrome, Type 2

Expression for Axenfeld-Rieger Syndrome, Type 2

Search GEO for disease gene expression data for Axenfeld-Rieger Syndrome, Type 2.

Pathways for Axenfeld-Rieger Syndrome, Type 2

Pathways related to Axenfeld-Rieger Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.29 FOXC1 PITX2

GO Terms for Axenfeld-Rieger Syndrome, Type 2

Biological processes related to Axenfeld-Rieger Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 9.16 FOXC1 PITX2
2 odontogenesis of dentin-containing tooth GO:0042475 8.96 FOXC1 PITX2
3 positive regulation of DNA binding GO:0043388 8.62 FOXC1 PITX2

Sources for Axenfeld-Rieger Syndrome, Type 2

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
Content
Loading form....