PHIP-Related disorder

Print

Disease Overview

PHIP-related disorder, also known as Chung-Jansen syndrome, is a rare condition caused by a change in the pleckstrin homology domain-interacting protein (PHIP) gene. The most common signs and symptoms, include mild to severe learning problems, behavior problems, and a tendency toward being overweight.[14529][14530] PHIP-related disorder is an autosomal dominant condition. This means that a person with the disorder has a 1 in 2 or 50% chance of passing the condition to each child.


Synonyms

  • Chung-Jansen syndrome
  • CHUJANS
  • Intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
  • Developmental delay, intellectual disability, obesity, and dysmorphism

For more information, visit GARD.

National Organization for Rare Disorders