NIPAL4 - Gene browser

NIPAL4

NIPA like domain containing 4

HCNC Approved Symbol: NIPAL4 (HGNC:28018)
Genomic Coordinates: 5:157,460,213 - 157,474,722 (5q33.3)
Synonyms: ICHYN, SLC57A6, NIPA4
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the NIPAL4 gene.

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

08
Patient count

Congenital ichthyosis: 4 (50.0%)
Patient Count: 4 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (50.0%)
Congenital lamellar ichthyosis: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Congenital nonbullous ichthyosiform erythroderma: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Congenital ichthyosiform erythroderma: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)
Ectropion: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)