IDUA - Gene browser

IDUA

alpha-L-iduronidase

HCNC Approved Symbol: IDUA (HGNC:5391)
Genomic Coordinates: 4:986,997 - 1,008,351 (4p16.3)
Synonyms: MPS1, MPSI
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the IDUA gene.

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

012
Patient count

Coarse face: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Short stature: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Dwarfism: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Hepatomegaly: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Anteverted nares: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)