OnlineIMD
Ectonucleotide pyrophosphatase/ phosphodiesterase 1 deficiency
Synonym(s)
Generalized arterial calcification of infancy type 1
Type
Disease
External link(s)
IEMbase
Gene
ENPP1
/ Ectonucleotide Pyrophosphatase/Phosphodiesterase 1
6q23.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Ectonucleotide pyrophosphatase/phosphodiesterase 1
Disease group(s)
16.3 Disorders of ectonucleotide and nucleic acid metabolism
Child entries
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Autosomal recessive hypophosphatemic rickets type 2
Cole disease