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GJA1-pEDD

Previously: PPK with congenital alopecia

pEDD Gene: GJA1 AD

Onset: Childhood

Pathway: Channels

Category Paper: pEDD Paper

Key Clinical Clues

PPK, hypotrichosis, leuconychia.

Additional Cutaneous Features

Hypotrichosis, leuconychia

Treatment

Potential for antisense oligonucleotides, mAbs (Mammano, 2024).

References

van Steensel MA, Spruijt L, van der Burgt I et al. A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. Am J Med Genet A 2005; 132a:171-4.

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