Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

familial cavitary optic disk anomaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial cavitary optic disk anomaly

MONDO:0012687

Also known as:familial CODACODAcavitary optic DISC anomalies

Overview

GeneticsAutosomal dominant · MMP19 (chr 12)

Clinical Presentation

Features include sometimes findings: Nyctalopia; and rarely findings: Peripapillary atrophy. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	1	Peripapillary atrophy

Explore clinical features

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.

MMP19 encodes matrix metallopeptidase 19 (508 aa). Endopeptidase that degrades various components of the extracellular matrix, such as aggrecan and cartilage oligomeric matrix protein (comp), during development, haemostasis and pathological conditions (arthritic disease). Highest expression in Adipose Visceral Omentum (68.1 TPM) and Spleen (63.1 TPM).

Familial cavitary optic disk anomaly is associated with mutations in the MMP19 gene on chromosome 12.

The MMP19 protein participates in Gelatin degradation by MMP19, NID1 degradation by MMP19, and Gelatin degradation by MMP1, 2, 3, 7, 8, 9, 12, 13 pathways.

MMP19 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 0.0.

Diagnosis

Genetic testing for MMP19 is available. Testing is considered confirmatory for diagnosis.

Prognosis

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 familial cavitary optic disk anomaly.

17 publications have been identified in PubMed for familial cavitary optic disk anomaly. Research spans Review / Meta-Analysis (36%), Clinical Trial Publication (21%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Research summaries	5	36%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611543

Orphanet

European rare disease database

Orphanet:464760

GARD

Genetic and Rare Diseases Info Center

GARD:17822

Questions for Your Care Team

→Should I pursue genetic testing for MMP19, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

familial cavitary optic disk anomaly

Overview

Clinical Presentation

Explore clinical features

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

Recent Publications