anterior segment dysgenesis 7
Findings
No curated finding names anterior segment dysgenesis 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene.
Definition from the Mondo Disease Ontology (MONDO:0010015), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CataractHPOHP:0000518
- 7 of 7 reported patients
- Corneal opacityHPOHP:0007957
- 11 of 11 reported patients
- Reduced visual acuityHPOHP:0007663
- 11 of 11 reported patients
- MicrocorneaHPOHP:0000482
- 8 of 11 reported patients
- Anterior synechiae of the anterior chamberHPOHP:0011483
- 3 of 7 reported patients
- Ocular hypertensionHPOHP:0007906
- 3 of 7 reported patients
- BuphthalmosHPOHP:0000557
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PXDNHGNC:14966
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- ATOH7HGNC:13907
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: anterior segment dysgenesis 7
- Also called
- anterior segment dysgenesis 7, with sclerocorneaanterior segment dysgenesis caused by mutation in PXDNCCMCOPXDN anterior segment dysgenesisPXDN-related ocular dysgenesissclerocornea with other ocular anomalies