RIEG2
MCID: AXN012
MIFTS: 33

Axenfeld-Rieger Syndrome, Type 2 (RIEG2)

Categories: 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 58 41
Axenfeld-Rieger Syndrome Type 2 12 30 15
Rieger Syndrome, Type 2 58 13
Rieg2 58 12
Rieger Syndrome Type 2 12
Rieger Syndrome 2 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
axenfeld-rieger syndrome, type 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Axenfeld-Rieger Syndrome, Type 2

OMIM : 58 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 perrault syndrome 1. 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:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 hydrocephalus 33 HP:0000238
3 inguinal hernia 33 HP:0000023
4 mandibular prognathia 33 HP:0000303
5 hearing impairment 33 HP:0000365
6 wide nasal bridge 33 HP:0000431
7 umbilical hernia 33 HP:0001537
8 blindness 33 HP:0000618
9 opacification of the corneal stroma 33 HP:0007759
10 everted lower lip vermilion 33 HP:0000232
11 microdontia 33 HP:0000691
12 cryptorchidism 33 HP:0000028
13 telecanthus 33 HP:0000506
14 short philtrum 33 HP:0000322
15 hypospadias 33 HP:0000047
16 hypoplasia of the maxilla 33 HP:0000327
17 glaucoma 33 HP:0000501
18 hypodontia 33 HP:0000668
19 anterior chamber synechiae 33 HP:0007833
20 microcornea 33 HP:0000482
21 abnormality of cardiovascular system morphology 33 HP:0030680
22 anal stenosis 33 HP:0002025
23 abnormal heart morphology 33 HP:0001627

Symptoms via clinical synopsis from OMIM:

58
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

G U:
cryptorchidism
hypospadias
fetal lobulations of kidney

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 30

Anatomical Context for Axenfeld-Rieger Syndrome, Type 2

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

42
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 anatomical structure morphogenesis GO:0009653 8.96 FOXC1 PITX2
2 camera-type eye development GO:0043010 8.62 FOXC1 PITX2

Sources for Axenfeld-Rieger Syndrome, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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