AXENFELD-RIEGER SYNDROME, TYPE 1

General Information (adopted from Orphanet):

Synonyms, Signs: RIEGER SYNDROME, TYPE 1
RIEG
RIEG1
RGS
Number of Symptoms 23
OrphanetNr:
OMIM Id: 180500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000047) Hypospadias 250 / 7739
2
(HPO:0000336) Prominent supraorbital ridges 45 / 7739
3
(HPO:0000322) Short philtrum 130 / 7739
4
(HPO:0000431) Wide nasal bridge 290 / 7739
5
(HPO:0000219) Thin upper lip vermilion 112 / 7739
6
(HPO:0000677) Oligodontia 41 / 7739
7
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
8
(HPO:0000668) Hypodontia 81 / 7739
9
(HPO:0000482) Microcornea 102 / 7739
10
(HPO:0000526) Aniridia 12 / 7739
11
(HPO:0007873) Abnormally prominent line of Schwalbe 4 / 7739
12
(HPO:0007676) Hypoplasia of the iris 22 / 7739
13
(HPO:0000485) Megalocornea 26 / 7739
14
(HPO:0000486) Strabismus 576 / 7739
15
(HPO:0000501) Glaucoma 180 / 7739
16
(HPO:0011500) Polycoria 3 / 7739
17
(HPO:0000824) Growth hormone deficiency 56 / 7739
18
(HPO:0002023) Anal atresia 135 / 7739
19
(HPO:0002025) Anal stenosis 23 / 7739
20
(OMIM) Dyscoria 1 / 7739
21
(OMIM) Iris dysplasia 2 / 7739
22
(OMIM) Displaced pupil 2 / 7739
23
(OMIM) Umbilical defect (redundant periumbilical skin) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Axenfeld-Rieger syndrome is 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 (Fitch and Kaback, 1978). Systemic ...
Clinical Description OMIM Hypodontia with malformation of the anterior chamber of the eye was recognized as a dominantly inherited disorder by Rieger (1935, 1941). The ocular features are microcornea with opacity, hypoplasia of the iris, and anterior synechiae. In 5 generations ...
Molecular genetics OMIM Semina et al. (1996) isolated the novel homeobox gene PITX2 (601542), which they designated RIEG, and identified 6 mutations in this gene (601542.0001-601542.0006) in individuals with Rieger syndrome.

PITX2 and DLX2 (126255) are transcription markers observed ...