Genopathy
Gene-Disorder Association · Article
Gene
ENPP1
Ectonucleotide Pyrophosphatase/Phosphodiesterase 1
Disorder
Arterial Calcification, Generalized, Of Infancy, 1
First reported 1997
Supporting publications 12
Key publication · gene–disorder Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report.Pediatric cardiology · 1997
Key publication · disorder [Demonstration of toxoplasma in mice inoculated with Trombicula le gaci powder collected from Lemniscomys barbarus striatus and Mylomys cuninghamei alberti captured in Oubangui-Chari].Bulletin de la Societe de pathologie exotique et de ses filiales · 1952
Manually curated
Association Review

In brief

The association between ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1) and Arterial Calcification, Generalized, Of Infancy, 1 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 351
Symptoms 40
Compounds 0
Trials 0
Publications 12
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
ENPP1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Arterial Calcification, Generalized, Of Infancy, 1

The disorder

9 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

18 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

351 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

12 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

14 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access