KRT5 - Gene browser

KRT5

keratin 5

HCNC Approved Symbol: KRT5 (HGNC:6442)
Genomic Coordinates: 12:52,514,575 - 52,520,394 (12q13.13)
Synonyms: KRT5A, CK-5, EBS2
Disease Associations: This gene is associated with the following 7 diseases in OMIM.

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the KRT5 gene.

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

011
Patient count

Skin blistering: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Hyperpigmentation of the skin: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Skin erosion: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Hypopigmentation of the skin: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Abnormal blistering of the skin: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)