RIEG2
MCID: AXN012
MIFTS: 31

Axenfeld-Rieger Syndrome, Type 2 (RIEG2)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Axenfeld-Rieger Syndrome, Type 2

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

Name: Axenfeld-Rieger Syndrome, Type 2 56 39
Axenfeld-Rieger Syndrome Type 2 12 29 15
Rieger Syndrome, Type 2 56 13
Rieg2 56 12
Rieger Syndrome Type 2 12
Rieger Syndrome 2 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
axenfeld-rieger syndrome, type 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Axenfeld-Rieger Syndrome, Type 2

OMIM : 56 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 and anterior segment dysgenesis. 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 hypertelorism and hydrocephalus

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

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

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 hydrocephalus 31 HP:0000238
3 hearing impairment 31 HP:0000365
4 inguinal hernia 31 HP:0000023
5 mandibular prognathia 31 HP:0000303
6 wide nasal bridge 31 HP:0000431
7 umbilical hernia 31 HP:0001537
8 cryptorchidism 31 HP:0000028
9 blindness 31 HP:0000618
10 short philtrum 31 HP:0000322
11 opacification of the corneal stroma 31 HP:0007759
12 everted lower lip vermilion 31 HP:0000232
13 microdontia 31 HP:0000691
14 telecanthus 31 HP:0000506
15 hypospadias 31 HP:0000047
16 hypoplasia of the maxilla 31 HP:0000327
17 glaucoma 31 HP:0000501
18 abnormal heart morphology 31 HP:0001627
19 hypodontia 31 HP:0000668
20 anterior chamber synechiae 31 HP:0007833
21 microcornea 31 HP:0000482
22 abnormality of cardiovascular system morphology 31 HP:0030680
23 anal stenosis 31 HP:0002025

Symptoms via clinical synopsis from OMIM:

56
Eyes:
hypertelorism
corneal opacity
blindness
telecanthus
glaucoma
more
G U:
cryptorchidism
hypospadias
fetal lobulations of kidney

Teeth:
microdontia
hypodontia
cone-shaped teeth

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

Nose:
short philtrum
broad nasal root

G I:
anal stenosis

Cardiac:
congenital heart defect

Neuro:
hydrocephaly

Joints:
congenital hip anomalies

Clinical features from OMIM:

601499

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:

40
Eye, Heart, Skin, Kidney

Publications for Axenfeld-Rieger Syndrome, Type 2

Articles related to Axenfeld-Rieger Syndrome, Type 2:

# Title Authors PMID Year
1
A second locus for Rieger syndrome maps to chromosome 13q14. 56
8751862 1996
2
The Rieger syndrome and a chromosome 13 deletion. 56
3117999 1987
3
Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter. 61
15823925 2005
4
Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil. 61
11821690 2002
5
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. 61
10713890 2000

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 PITX2 FOXC1

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 anatomical structure morphogenesis GO:0009653 8.96 PITX2 FOXC1
2 camera-type eye development GO:0043010 8.62 PITX2 FOXC1

Sources for Axenfeld-Rieger Syndrome, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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