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anterior segment dysgenesis 8 (ASGD8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

anterior segment dysgenesis 8

MONDO:0015017

Also known as:ASGD8CPAMD8 anterior segment dysgenesisCPAMD8-related anterior segment dysgenesis

Overview

Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.

GeneticsAutosomal recessive · CPAMD8 (chr 19)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Ectopia pupillae, Ectopia lentis, and Cataract; and common findings: Iris transillumination defect, Optic nerve dysplasia, Iridodonesis, and Microphakia and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Cloudy or opaque cornea (corneal opacity), Optic nerve dysplasia, Cataract

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CPAMD8 encodes C3 and PZP like alpha-2-macroglobulin domain containing 8 (1,885 aa). Highest expression in Prostate (41.7 TPM) and Thyroid (20.0 TPM).

Anterior segment dysgenesis 8 is caused by mutations in the CPAMD8 gene on chromosome 19.

CPAMD8 is classified as a druggable target (Druggable Genome and Protease Inhibitor categories) with score 0.0.

Diagnosis

Genetic testing for CPAMD8 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for anterior segment dysgenesis 8.

23 publications have been identified in PubMed for anterior segment dysgenesis 8. Research spans Case Report / Case Series (30%), Basic Science / Preclinical (30%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	7	30%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617319

Orphanet

European rare disease database

Orphanet:519388

GARD

Genetic and Rare Diseases Info Center

GARD:17954

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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anterior segment dysgenesis 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

anterior segment dysgenesis 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications