AXENFELD-RIEGER SYNDROME, TYPE 2

General Information (adopted from Orphanet):

Synonyms, Signs: RIEGER SYNDROME, TYPE 2
RIEG2
Number of Symptoms 32
OrphanetNr:
OMIM Id: 601499
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:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000303) Mandibular prognathia 179 / 7739
4
 (HPO:0000431) Wide nasal bridge 290 / 7739
5
 (HPO:0000691) Microdontia 104 / 7739
6
 (HPO:0000316) Hypertelorism 644 / 7739
7
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
8
 (HPO:0000668) Hypodontia 81 / 7739
9
 (HPO:0000322) Short philtrum 130 / 7739
10
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
11
 (HPO:0000506) Telecanthus 156 / 7739
12
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
13
 (HPO:0000501) Glaucoma 180 / 7739
14
 (HPO:0000482) Microcornea 102 / 7739
15
 (HPO:0007833) Anterior chamber synechiae 1 / 7739
16
 (HPO:0000618) Blindness 124 / 7739
17
 (HPO:0007957) Corneal opacity 84 / 7739
18
 (HPO:0000365) Hearing impairment 539 / 7739
19
 (HPO:0001374) Congenital hip dislocation 51 / 7739
20
 (HPO:0002025) Anal stenosis 23 / 7739
21
 (HPO:0001537) Umbilical hernia 206 / 7739
22
 (HPO:0000023) Inguinal hernia 181 / 7739
23
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
24
 (OMIM) Cone-shaped teeth 1 / 7739
25
 (OMIM) Abnormal ear 2 / 7739
26
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
27
 (OMIM) Fetal lobulations of kidney 2 / 7739
28
 (HPO:0000238) Hydrocephalus 278 / 7739
29
 (OMIM) No failure of involution of periumbilical skin 1 / 7739
30
 (OMIM) Iris dysplasia 2 / 7739
31
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
32
 (OMIM) Mild prognathism 3 / 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, which results in blindness from glaucoma in approximately 50% of affected individuals. Systemic abnormalities are sometimes associated. ...