RGD Reference Report - Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. - Rat Genome Database

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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

Authors: Rutsch, F  Ruf, N  Vaingankar, S  Toliat, MR  Suk, A  Hohne, W  Schauer, G  Lehmann, M  Roscioli, T  Schnabel, D  Epplen, JT  Knisely, A  Superti-Furga, A  McGill, J  Filippone, M  Sinaiko, AR  Vallance, H  Hinrichs, B  Smith, W  Ferre, M  Terkeltaub, R  Nurnberg, P 
Citation: Rutsch F, etal., Nat Genet 2003 Aug;34(4):379-81.
RGD ID: 731203
Pubmed: PMID:12881724   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1221   (Journal Full-text)

Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. We analyzed affected individuals from 11 unrelated kindreds and found that IIAC was associated with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This cell surface enzyme generates inorganic pyrophosphate (PP(i)), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
arterial calcification of infancy  IAGP 731203DNA:missense mutations more ...RGD 
arterial calcification of infancy  ISOENPP1 (Homo sapiens)731203; 731203DNA:missense mutations more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Enpp1  (ectonucleotide pyrophosphatase/phosphodiesterase 1)

Genes (Mus musculus)
Enpp1  (ectonucleotide pyrophosphatase/phosphodiesterase 1)

Genes (Homo sapiens)
ENPP1  (ectonucleotide pyrophosphatase/phosphodiesterase 1)


Additional Information