Peters anomaly

General Information (adopted from Orphanet):

Synonyms, Signs: Peters congenital glaucoma
Number of Symptoms 16
OrphanetNr: 708
OMIM Id: 604229
ICD-10: Q13.4
UMLs:
MeSH: C537884
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Corneoiridogoniodysgenesis
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Nonsyndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -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

Symptom Information: Sort by abundance 

1
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
2
 (HPO:0000308) Microretrognathia Occasional [Orphanet] 78 / 7739
3
 (HPO:0000689) Dental malocclusion Occasional [Orphanet] 114 / 7739
4
 (HPO:0007957) Corneal opacity hallmark [HPO:curators] 84 / 7739
5
 (HPO:0000486) Strabismus 16% [HPO:curators] 14711722 IBIS 576 / 7739
6
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
7
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
8
 (HPO:0000659) Peters anomaly 10 / 7739
9
 (HPO:0001131) Corneal dystrophy Frequent [Orphanet] 56 / 7739
10
 (HPO:0000517) Abnormality of the lens Occasional [Orphanet] 12 / 7739
11
 (HPO:0001087) Congenital glaucoma common [HPO:curators] 12 / 7739
12
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
13
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
14
 (HPO:0000639) Nystagmus Occasional [Orphanet] 32% [HPO:curators] 14711722 IBIS 555 / 7739
15
 (HPO:0000482) Microcornea Very frequent [Orphanet] 102 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906). It occurs ...
Molecular genetics OMIM In a family with dominantly inherited anterior segment malformations with variable expression, including typical Peters anomaly, Hanson et al. (1994) identified a mutation in the PAX6 gene (607108.0004). Two family members had a phenotype that most closely resembled ...