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ENPP1-pEDD

Previously: Cole disease

pEDD Gene: ENPP1 AD, AR

Onset: Early childhood

Pathway: Enzymes and their inhibitors

Category Paper: pEDD Paper

Key Clinical Clues

Early-onset punctate PPK associated with hypopigmented macules.

Additional Cutaneous Features

Hypopigmented macules

References

Eytan O, Morice-Picard F, Sarig O et al. Cole disease results from mutations in ENPP1. Am J Hum Genet 2013; 93:752-7.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer

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This is a reference resource for clinicians and researchers. It is not medical advice or a diagnostic tool.

The database is still being verified and entries may be incomplete. Do not rely on it without independent professional judgement.

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