FBLN5 - Gene browser

FBLN5

fibulin 5

HCNC Approved Symbol: FBLN5 (HGNC:3602)
Genomic Coordinates: 14:91,869,411 - 91,947,694 (14q32.12)
Synonyms: EVEC, UP50, DANCE, ARMD3
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the FBLN5 gene.

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

03
Patient count

Hypertrophic cardiomyopathy: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Loose skin: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Achilles tendon contracture: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Decreased distal vibration sense: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Distal muscle weakness due to peripheral neuropathy: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)