CPAMD8 - Gene browser | 3billion

CPAMD8

CPAMD8

C3 and PZP like alpha-2-macroglobulin domain containing 8

HCNC Approved Symbol: CPAMD8 (HGNC:23228)
Genomic Coordinates: 19:16,892,951 - 17,026,810 (19p13.11)
Synonyms: KIAA1283, VIP, K-CAP
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the CPAMD8 gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

03
Patient count

Ocular absence: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Axenfeld anomaly: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Dental abnormality: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Posterior embryotoxon: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)

Last updated: 2024-06-30

CPAMD8 - Gene browser | 3billion