MCID: RGR002
MIFTS: 35

Rieger Syndrome, Type 2

Categories: Genetic diseases

Aliases & Classifications for Rieger Syndrome, Type 2

MalaCards integrated aliases for Rieger Syndrome, Type 2:

Name: Rieger Syndrome, Type 2 54 24 13
Axenfeld-Rieger Syndrome Type 2 12 29 14
Rieg2 12 24
Axenfeld-Rieger Syndrome, Type 2 24
Rieger Syndrome Type 2 12
Rieger Syndrome 2 69

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
rieger syndrome, type 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Rieger Syndrome, Type 2

OMIM : 54
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 : Rieger Syndrome, Type 2, also known as axenfeld-rieger syndrome type 2, is related to axenfeld-rieger syndrome and larsen-like syndrome, and has symptoms including umbilical hernia, hydrocephalus and hypertelorism. An important gene associated with Rieger Syndrome, Type 2 is RIEG2 (Rieger Syndrome 2), and among its related pathways/superpathways is Heart Development. The drugs Zinc and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and kidney.

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

Related Diseases for Rieger Syndrome, Type 2

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



Diseases related to Rieger Syndrome, Type 2

Symptoms & Phenotypes for Rieger Syndrome, Type 2

Symptoms via clinical synopsis from OMIM:

54

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

Eyes:
hypertelorism
glaucoma
microcornea
telecanthus
blindness
more
Facies:
maxillary hypoplasia
mild prognathism

Teeth:
hypodontia
microdontia
cone-shaped teeth

GI:
anal stenosis

Mouth:
protruding lower lip

Nose:
broad nasal root
short philtrum

GU:
hypospadias
cryptorchidism
fetal lobulations of kidney

Neuro:
hydrocephaly

Cardiac:
congenital heart defect

Ear:
hearing defect
abnormal ear

Joints:
congenital hip anomalies


Clinical features from OMIM:

601499

Human phenotypes related to Rieger Syndrome, Type 2:

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

Drugs & Therapeutics for Rieger Syndrome, Type 2

Drugs for Rieger Syndrome, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved Phase 4 7440-66-6 32051 23994
2 Hypoglycemic Agents Phase 4
3 insulin Phase 4
4 Insulin, Globin Zinc Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Comparing Continuous Subcutaneous Insulin Infusion With Multiple Daily Injections to Reach HbA1c Targets in Children and Adolescents With Type 1 Diabetes Active, not recruiting NCT02403375 Phase 4
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 Calorie-restricted, Ketogenic Diet and Transient Fasting During Reirradiation for Patients With Recurrent Glioblastoma Recruiting NCT01754350

Search NIH Clinical Center for Rieger Syndrome, Type 2

Genetic Tests for Rieger Syndrome, Type 2

Genetic tests related to Rieger Syndrome, Type 2:

id Genetic test Affiliating Genes
1 Axenfeld-Rieger Syndrome Type 2 29
2 Axenfeld-Rieger Syndrome, Type 2 24

Anatomical Context for Rieger Syndrome, Type 2

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

39
Eye, Heart, Kidney, Skin

Publications for Rieger Syndrome, Type 2

Variations for Rieger Syndrome, Type 2

Expression for Rieger Syndrome, Type 2

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

Pathways for Rieger Syndrome, Type 2

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

id Super pathways Score Top Affiliating Genes
1 10.29 FOXC1 PITX2

GO Terms for Rieger Syndrome, Type 2

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

id 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 Rieger Syndrome, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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