Axenfeld-Rieger syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Axenfeld syndrome
Rieger syndrome
Number of Symptoms 39
OrphanetNr: 782
OMIM Id: 180500
601499
602482
ICD-10: Q13.8
UMLs: C0265341
MeSH: C535679
MedDRA:
Snomed: 204154009
267585008
417604002
47507006

Prevalence, inheritance and age of onset:

Prevalence: 0.5 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disease associated with nonacquired combined pituitary hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Iridogoniodysgenesis
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Nonsyndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Rare disease with glaucoma as a major feature
 -Rare eye disease
 -Rare genetic disease
Rare eye disease due to a differentiation anomaly
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
2
 (HPO:0000327) Hypoplasia of the maxilla Occasional [Orphanet] 129 / 7739
3
 (HPO:0000336) Prominent supraorbital ridges 45 / 7739
4
 (HPO:0000691) Microdontia Occasional [Orphanet] 104 / 7739
5
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
6
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
7
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
8
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
9
 (HPO:0000322) Short philtrum 130 / 7739
10
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
11
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
12
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
13
 (HPO:0000506) Telecanthus Occasional [Orphanet] 156 / 7739
14
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
15
 (HPO:0000668) Hypodontia 81 / 7739
16
 (HPO:0000431) Wide nasal bridge 290 / 7739
17
 (HPO:0011500) Polycoria 3 / 7739
18
 (HPO:0000485) Megalocornea 26 / 7739
19
 (HPO:0000627) Posterior embryotoxon Very frequent [Orphanet] 15 / 7739
20
 (HPO:0000558) Rieger anomaly 5 / 7739
21
 (HPO:0000486) Strabismus 576 / 7739
22
 (HPO:0000482) Microcornea 102 / 7739
23
 (HPO:0000526) Aniridia 12 / 7739
24
 (HPO:0008053) Aplasia/Hypoplasia of the iris Very frequent [Orphanet] 38 / 7739
25
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
26
 (HPO:0007676) Hypoplasia of the iris 22 / 7739
27
 (HPO:0007873) Abnormally prominent line of Schwalbe 4 / 7739
28
 (HPO:0000593) Abnormality of the anterior chamber Very frequent [Orphanet] 15 / 7739
29
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
30
 (HPO:0000864) Abnormality of the hypothalamus-pituitary axis Occasional [Orphanet] 23 / 7739
31
 (HPO:0000824) Growth hormone deficiency 56 / 7739
32
 (HPO:0002025) Anal stenosis 23 / 7739
33
 (HPO:0004298) Abnormality of the abdominal wall 20 / 7739
34
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
35
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
36
 (HPO:0001582) Redundant skin Occasional [Orphanet] 51 / 7739
37
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
38
 (HPO:0003828) Variable expressivity 130 / 7739
39
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: