anterior segment dysgenesis 8
Findings
No curated finding names anterior segment dysgenesis 8 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 CPAMD8 gene.
Definition from the Mondo Disease Ontology (MONDO:0015017), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
12 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
- 4 of 4 reported patients
- Ectopia lentisHPOHP:0001083
- 3 of 3 reported patients
- Ectopia pupillaeHPOHP:0009918
- 4 of 4 reported patients
- Hypoplasia of the irisHPOHP:0007676
- 3 of 4 reported patients
- IridodonesisHPOHP:0100693
- 3 of 4 reported patients
- Iris transillumination defectHPOHP:0012805
- 3 of 4 reported patients
- Uveal ectropionHPOHP:0025358
Genes
1 gene
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.
- CPAMD8HGNC:23228
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2017
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
5 names
Resolves to: anterior segment dysgenesis 8
- Also called
- anterior segment dysgenesis caused by mutation in CPAMD8anterior segment dysgenesis type 8ASGD8CPAMD8 anterior segment dysgenesisCPAMD8-related anterior segment dysgenesis