Peters Anomaly malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Metabolic diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Peters Anomaly:
Orphanet epidemiological data:53
peters plus syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Cardiovascular diseases
ICD10: 30 29
Rare neurological diseases
Rare eye diseases
Rare cardiac malformations
Inborn errors of metabolism
Developmental anomalies during embryogenesis
NIH Rare Diseases:47 Peters anomaly is a disorder of the eye which involves thinning and clouding of the cornea and attachment of the iris to the cornea, which causes blurred vision. It may also be associated with clouding of the lens of the eye (cataracts) or other lens abnormalities. The cause of Peters anomaly is unknown; it may be caused by genetic factors (including alterations of several genes, like the FOXC1, PAX6, PITX2, or CYP1B1 genes, environmental factors, or both. The critical event must occur in the first trimester of pregnancy during the formation of the anterior chamber. Most cases of Peters anomaly are sporadic or inherited in an autosomal recessive pattern. Some few cases might be inherited in an autosomal dominant pattern. Peters anomaly may occur as an isolated ocular abnormality or in association with other ocular defects. Peters anomaly is a feature of the Krause-Kivlin syndrome and the Peters-plus syndrome. Treatment depends on the problems that the patient has and may include glaucoma treatment or surgery to correct the cataracts or other lens abnormalities. Last updated: 9/11/2015
MalaCards based summary: Peters Anomaly, also known as peters plus syndrome, is related to anterior segment mesenchymal dysgenesis and peters anomaly-cataract syndrome, and has symptoms including thin vermilion border, round face and long philtrum. An important gene associated with Peters Anomaly is PAX6 (Paired Box 6). Affiliated tissues include eye, myeloid and testes, and related mouse phenotypes are muscle and hearing/vestibular/ear.
Disease Ontology:11 A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has material basis in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.
UniProtKB/Swiss-Prot:69 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-plus syndrome: Autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate.
Genetics Home Reference:25 Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part (iris) of the eye, and the clear covering of the eye (cornea). During development of the eye, the elements of the anterior segment form separate structures. However, in Peters anomaly, development of the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the lens. As a result, the cornea is cloudy (opaque), which causes blurred vision. The opaque area (opacity) of the cornea varies in size and intensity from a small, faint streak to a large, white cloudy area that covers the front surface of the eye. Additionally, the location of the opacity varies; the cloudiness may be at the center of the cornea or off-center. Large, centrally located opacities tend to cause poorer vision than smaller, off-center ones.
Wikipedia:70 Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior... more...
Descriptions from OMIM:51 604229,261540
GeneReviews for NBK1464
Human phenotypes related to Peters Anomaly:63 53 (show all 129)
UMLS symptoms related to Peters Anomaly:seizures
Drugs for Peters Anomaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 345)
Interventional clinical trials:(show top 50) (show all 165)
Search NIH Clinical Center for Peters Anomaly
MalaCards organs/tissues related to Peters Anomaly:35
Eye, Myeloid, Testes, Bone, Lung, Liver, Heart
MGI Mouse Phenotypes related to Peters Anomaly:40 (show all 13)
Articles related to Peters Anomaly:(show top 50) (show all 67)
UniProtKB/Swiss-Prot genetic disease variations for Peters Anomaly:69
Clinvar genetic disease variations for Peters Anomaly:5 (show all 19)
Copy number variations for Peters Anomaly from CNVD:6
Search GEO for disease gene expression data for Peters Anomaly.
Cellular components related to Peters Anomaly according to GeneCards Suite gene sharing:
Biological processes related to Peters Anomaly according to GeneCards Suite gene sharing:(show all 26)
Molecular functions related to Peters Anomaly according to GeneCards Suite gene sharing:(show all 7)
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet