Details of Disease

General Information of Disease (ID: DISP6CEE)

Disease Name Anterior segment dysgenesis 7
Synonyms
congenital cataract microcornea with corneal opacity; corneal opacification and other ocular anomalies; corneal opacification with Other ocular anomalies; COPOA; sclerocornea with Other ocular anomalies; ASGD7; corneal opacification with other ocular anomalies; anterior segment dysgenesis 7, with sclerocornea; CCMCO; PXDN-related ocular dysgenesis; PXDN anterior segment dysgenesis; sclerocornea with other ocular anomalies; anterior segment dysgenesis 7; anterior segment dysgenesis caused by mutation in PXDN
Definition Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene.
Disease Hierarchy
DIS7HV8A: Sclerocornea
DIS12OKO: Anterior segment dysgenesis
DISP6CEE: Anterior segment dysgenesis 7
Disease Identifiers
MONDO ID
MONDO_0010015
UMLS CUI
C3151617
OMIM ID
269400
MedGen ID
462967
Orphanet ID
289499

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATOH7 OTUBW5PV Supportive Autosomal recessive [1]
PTCH1 OTMG07H5 Strong Biomarker [2]
PXDN OTFGGM9R Definitive Autosomal recessive [3]
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References

1 Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Hum Mol Genet. 2012 Feb 15;21(4):776-83. doi: 10.1093/hmg/ddr509. Epub 2011 Nov 7.
2 Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.Genome Res. 2016 Apr;26(4):474-85. doi: 10.1101/gr.196048.115. Epub 2016 Feb 18.
3 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.