PHIP-Related disorder

What causes PHIP-related disorder?

PHIP-related disorder is a rare condition caused by a genetic change in the pleckstrin homology domain-interacting protein (PHIP) gene. This gene plays an important role in several processes linked to brain and nervous system development. The PHIP gene is also involved in regulating insulin in nervous tissues. To date, PHIP-related disorder is not known to cause diabetes, however people with the disorder are at an increased risk for being overweight which is a risk factor for diabetes.

Last updated on 05-01-20

How is PHIP-related disorder inherited?

PHIP-related disorder often occurs for the first time in a family as a new genetic change in the family member with the disorder. However, some cases have been inherited from a parent who has the disorder themselves. People with PHIP-related disorder have a 50% chance of passing the condition on to each child.

A few cases of PHIP-related disorder have been caused by a loss of genetic material on chromosome 6, where the PHIP gene is found. These cases are due to a larger change in chromosome 6 versus a change in the PHIP gene alone. These cases may occur for the first time in a family in the family member with the disorder, or be inherited from a parent.

Talking with a genetic professional can help a family understand the origin of the PHIP-related disorder in their family, and learn if genetic testing of family members would be helpful.

Last updated on 05-01-20

How rare is PHIP-related disorder?

The actual prevalence of PHIP-related disorder is not known. To date around 27 cases of PHIP-related disorder have been described in the medical literature.

Last updated on 05-01-20

Selected Full-Text Journal Articles

PHIP-Related disorder articles

Webster E, Cho MT, Alexander N, Desai S, Naidu S, Bekheirnia MR, Lewis A, Retterer K, Juusola J, Chung WK. De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001172.

Last updated on 04-27-20

PHIP related disorder article

Last updated on 04-27-20

Social Networking Websites

PHIP Kids (Chung-Jansen Syndrome)

The PHIP Kids (Chung-Jansen Syndrome) is an active Facebook group for people with loved ones with PHIP-related disorder.

Last updated on 04-27-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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