🧬 SyndromeScope
← Back to search
Cardiology · Cardiology / Genetic cardiology

Naxos disease

also: Cardiocutaneous syndrome with palmoplantar keratoderma

Recessive ARVC with woolly hair and palmoplantar keratoderma.

Specialty
Cardiology
Subspecialty
Cardiology / Genetic cardiology
Sex & age distribution
Male: affected; Female: affected equally; Children: yes, hair and skin from infancy
Gene(s) involved
JUP
Alternative names & eponyms
Cardiocutaneous syndrome with palmoplantar keratoderma

Etiology & mechanism

Plakoglobin deficiency impairs desmosomes.

Gene(s) involved (1)

JUP

Symptoms & signs (6)

In plain terms, someone with Naxos disease may experience the following — click any to explore related syndromes:

Same gene(s)

Other syndromes that involve one of this syndrome's genes.

Overlapping symptoms

Other syndromes that share symptoms with this one.

Drag nodes, scroll to zoom, click a node to open that syndrome.

Loading…
Loading…