Disease association ontology term - MONDO:1040012 - PI4KA-related disorder

Term summary

ID

MONDO:1040012

Name

PI4KA-related disorder

Ontology or CV name

Disease association

Definition

Any human disease in which the cause of the disease is a variation in the PI4KA gene. This disease is characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.

Parents

• excluded_subClassOf complex hereditary spastic paraplegia
• excluded_subClassOf bilateral perisylvian polymicrogyria
• excluded_subClassOf gastrointestinal defect and immunodeficiency syndrome
• is_a hereditary disease

Annotation