ENPP1 - Gene browser

ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1

HCNC Approved Symbol: ENPP1 (HGNC:3356)
Genomic Coordinates: 6:131,808,020 - 131,895,155 (6q23.2)
Synonyms: PC-1, PCA1, NPPS, M6S1, PDNP1
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the ENPP1 gene.

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

04
Patient count

Genu varum: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Global developmental delay: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Metaphyseal dysplasia: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Obesity: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Short lower limbs: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)